Adults' perceptions of genetic counseling and genetic testing.
Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley
2015-02-01
This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.
Prenatal Genetic Counseling (For Parents)
... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...
Genetic counseling and testing for gynecological cancers ...
African Journals Online (AJOL)
undergraduates of universities in Ibadan to genetic counseling and testing (GCT) for ... questionnaire, information on their understanding of GCT, perception of implications, and ... by genetic counseling from suitably trained health-care providers and genetic testing of selected high-risk individuals ..... Multiple sexual partners.
Shugar, Andrea
2017-04-01
Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills.
Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M
2016-02-01
Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.
Respecting autonomous decision making among Filipinos: a re-emphasis in genetic counseling.
Cura, Jonathan Diego
2015-04-01
Family cohesiveness provides a unique cultural influence in the observance and expression of autonomy in terms of Filipino patients' decision making. With genetic counseling yet in its dawning practice in the Philippines, healthcare professionals (i.e., geneticists, practitioners) practicing genetic counseling and students in the pioneering genetic counseling program face the challenge of how to provide culturally appropriate measures in respecting Filipinos' autonomy. There is much deliberation with respect to identifying autonomous decision making among Filipino patients as counselees in genetic counseling. Cultural values influence how autonomy and bioethical principles are upheld. In a culturally-appropriate manner of identifying who makes health care and genetic counseling decisions, the sole focus on an individualistic perspective may be too western-based and may render genetic counseling less effective. The uniquely important cultural feature of family cohesiveness necessitates its incorporation into the practice of genetic counseling in the Philippines.
Presymptomatic ALS genetic counseling and testing: Experience and recommendations.
Benatar, Michael; Stanislaw, Christine; Reyes, Eliana; Hussain, Sumaira; Cooley, Anne; Fernandez, Maria Catalina; Dauphin, Danielle D; Michon, Sara-Claude; Andersen, Peter M; Wuu, Joanne
2016-06-14
Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS. © 2016 American Academy of Neurology.
Frequently Asked Questions about Genetic Counseling
... a decision about testing. Interpret the results of genetic tests and medical data. Provide counseling or refer individuals and families to support services. Serve as patient advocates. Explain possible treatments or preventive ... What is a genetic consultation? [ghr.nlm.nih.gov] Top of page ...
A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.
Madlensky, Lisa; Trepanier, Angela M; Cragun, Deborah; Lerner, Barbara; Shannon, Kristen M; Zierhut, Heather
2017-06-01
As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.
Genetic information, non-discrimination, and privacy protections in genetic counseling practice.
Prince, Anya E R; Roche, Myra I
2014-12-01
The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, 6 years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information.
Suli, S.
2009-01-01
This article provides an empirical account of the application of genetic counselling in China based on interviews, clinical observation and literature research during a field study from September 2008 to February 2009, carried out mainly in China and partly in Hong Kong and the United Kingdom.
Albada, A.; Dulmen, S. van; Otten, R.; Bensing, J.M.; Ausems, M.G.E.M.
2009-01-01
This article describes the stepwise development of the website ‘E-info geneca’. The website provides counselees in breast cancer genetic counseling with computer-tailored information and a question prompt prior to their first consultation. Counselees generally do not know what to expect from genetic
Genetic Counseling for Congenital Heart Defects
... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...
Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine.
Austin, Jehannine; Semaka, Alicia; Hadjipavlou, George
2014-12-01
Discussions about genetic contributions to medical illness have become increasingly commonplace. Physicians and other health-care providers in all quarters of medicine, from oncology to psychiatry, routinely field questions about the genetic basis of the medical conditions they treat. Communication about genetic testing and risk also enter into these conversations, as knowledge about genetics is increasingly expected of all medical specialists. Attendant to this evolving medical landscape is some uncertainty regarding the future of the genetic counseling profession, with the potential for both increases and decreases in demand for genetic counselors being possible outcomes. This emerging uncertainty provides the opportunity to explicitly conceptualize the potentially distinct value and contributions of the genetic counselor over and above education about genetics and risk that may be provided by other health professionals. In this paper we suggest conceptualizing genetic counseling as a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal. While such an approach is by no means new--in 1979 Seymour Kessler explicitly described genetic counseling as a "kind of psychotherapeutic encounter," an "interaction with a psychotherapeutic potential"--we expand on his view, and provide research evidence in support of our position. We review available evidence from process and outcome studies showing that genetic counseling is a therapeutic encounter that cannot be reduced to one where the counselor performs a simple "conduit for information" function, without losing effectiveness. We then discuss potential barriers that may have impeded greater uptake of a psychotherapeutic model of practice, and close by discussing implications for practice.
Employability of genetic counselors with a PhD in genetic counseling.
Wallace, Jody P; Myers, Melanie F; Huether, Carl A; Bedard, Angela C; Warren, Nancy Steinberg
2008-06-01
The development of a PhD in genetic counseling has been discussed for more than 20 years, yet the perspectives of employers have not been assessed. The goal of this qualitative study was to gain an understanding of the employability of genetic counselors with a PhD in genetic counseling by conducting interviews with United States employers of genetic counselors. Study participants were categorized according to one of the following practice areas: academic, clinical, government, industry, laboratory, or research. All participants were responsible for hiring genetic counselors in their institutions. Of the 30 employers interviewed, 23 envisioned opportunities for individuals with a PhD degree in genetic counseling, particularly in academic and research settings. Performing research and having the ability to be a principal investigator on a grant was the primary role envisioned for these individuals by 22/30 participants. Employers expect individuals with a PhD in genetic counseling to perform different roles than MS genetic counselors with a master's degree. This study suggests there is an employment niche for individuals who have a PhD in genetic counseling that complements, and does not compete with, master's prepared genetic counselors.
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Langen, Irene M
2016-01-01
Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas, showing positive patients' and professionals' satisfaction. One economic analysis published thus far reported lower costs than in-person care. We hypothesized that telegenetics can also be beneficial from the professional's view in relatively small geographical areas. We performed a pilot study in the Northern Netherlands of 51 home-based online counseling sessions for cardiogenetic and oncogenetic cascade screening, and urgent prenatal counseling. Previously, we showed patient satisfaction, anxiety, and perceived control of online counseling to be comparable to in-person counseling. This study focuses on expectations, satisfaction, and practical evaluations of the involved counselors, and the impact in terms of time and costs. Most counselors expected disadvantages of online counseling for themselves and their patients, mainly concerning insufficient non-verbal communication; few expected advantages for themselves. Afterwards, counselors additionally raised the disadvantage of insufficient verbal communication, and reported frequent technical problems. Their overall mean telemedicine satisfaction itemscore was 3.38 before, and 2.95 afterwards, being afterwards slightly below the minimum level we set for a satisfactory result. We estimated reduced time and costs by online counseling with about 8% and 10–12%, respectively. We showed online genetic counseling to be effective, feasible and cost-efficient, but technical improvements are needed to increase counselors' satisfaction. PMID:26785833
Genetic counseling and the ethical issues around direct to consumer genetic testing.
Hawkins, Alice K; Ho, Anita
2012-06-01
Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.
Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia
Directory of Open Access Journals (Sweden)
M. Z. Rahman
2018-01-01
Full Text Available With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.
Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia.
Rahman, M Z; Nishat, L; Yesmin, Z A; Banu, L A
2018-01-01
With the advancement of medical genetics, particular emphasis is given on the genetic counseling worldwide. In Bangladesh, genetic counseling services are not yet developed. Acute myeloid leukemia (AML) is a malignant disease of the myeloid cells of bone marrow. Like other malignant diseases, it may result from a mutation in the DNA. A genetic counseling format will educate the AML patients and provide appropriate medical and emotional support. The aim of this descriptive cross-sectional study was to develop a genetic counseling format for adult Bangladeshi patients with AML. Taking this into account, a draft format was prepared by reviewing relevant documents available online which was later analyzed by an expert panel through a group discussion and thus a proposed format was developed. To make the format effective in the perspective of Bangladeshi population, the proposed format was applied in counseling, and thus a final format was developed in the English language. This format will educate the counselors, clinicians, and patients about the utility and importance of the genetic counseling and genetic tests. Also, the patients feel comfort regarding the whole counseling process and going for postcounseling treatments and advice. Though it is written in English, it may be translated into mother tongue for better communication during counseling.
Austin, Jehannine C; Honer, William G
2007-02-01
Genetic counseling is an important clinical service that is routinely offered to families affected by genetic disorders or by complex disorders for which genetic testing is available. It is not yet routinely offered to individuals with serious mental illnesses and their families, but recent findings that beliefs about the cause of mental illness can affect an individual's adaptation to the illness suggest that genetic counseling may be a useful intervention for this population. In a genetic counseling session the counselor discusses genetic and environmental contributors to disease pathogenesis; helps individuals explore conceptions, fears, and adaptive strategies; and provides nondirective support for decision making. Expected outcomes may include reductions in fear, stigma, and guilt associated with a psychiatric diagnosis; improvements in adherence to prescribed medications; declines in risk behaviors; and reductions in misconceptions about the illness. The authors endorse a multidisciplinary approach in which a psychiatrist and genetic counselor collaborate to provide comprehensive psychiatric genetic counseling.
A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.
Resta, Robert; Biesecker, Barbara Bowles; Bennett, Robin L; Blum, Sandra; Hahn, Susan Estabrooks; Strecker, Michelle N; Williams, Janet L
2006-04-01
The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.
Interactive genetic counseling role-play: a novel educational strategy for family physicians.
Blaine, Sean M; Carroll, June C; Rideout, Andrea L; Glendon, Gord; Meschino, Wendy; Shuman, Cheryl; Telner, Deanna; Van Iderstine, Natasha; Permaul, Joanne
2008-04-01
Family physicians (FPs) are increasingly involved in delivering genetic services. Familiarization with aspects of genetic counseling may enable FPs to help patients make informed choices. Exploration of interactive role-play as a means to raise FPs' awareness of the process and content of genetic counseling. FPs attending two large Canadian family medicine conferences in 2005 were eligible -- 93 participated. FPs discussed a case during a one-on-one session with a genetic counselor. Evaluation involved pre and post intervention questionnaires FPs' baseline genetic knowledge was self-rated as uniformly poor. Baseline confidence was highest in eliciting family history and providing psychosocial support and lowest in discussing risks/benefits of genetic testing and counseling process. Post-intervention, 80% of FPs had better appreciation of family history and 97% indicated this was an effective learning experience. Role-play with FPs is effective in raising awareness of the process and content of genetic counseling and may be applied to other health disciplines.
Own experiences in genetic counselling of radiation exposed persons
International Nuclear Information System (INIS)
Laude, G.; Bruening, L.
1995-01-01
An outline is given of genetic counselling provided to 46 radiation-exposed persons during the period from 1978 to 1994. The radiation exposure had, in most cases, been due to radiation-therapeutic measures (n=22). To a low extent, counselling was carried out because of fear of genetic consequences of the Chernobyl reactor accident (n=11), preceding radiation exposure from X-ray (n=9) and nuclear diagnosis (n=1) as well as occupation radiation exposure (n=3). During counselling, information was given on the genetic risk to be expected, taking into consideration the risk factor that is valid at present and the malformation doubling dose. After performance of radiation therapy, an avoidance of conception for 2 years has been recommended. After termination of this period, in the case of an urgent wish of having children, pregnancy was not discouraged if no further risk factors existed. (orig.) [de
Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark
DEFF Research Database (Denmark)
Diness, Birgitte Rode; Overbeck, Gritt; Hjortshøj, Tina Duelund
2017-01-01
Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic counseling. The Genetic Counselling Outcome Scale (GCOS-24), a Patient Reported Outcome Measure (PROM), was developed in English...... and validated with clinical genetics patients in the British NHS. This study reports the translation and adaptation of the GCOS-24 for use in Denmark. GCOS-24 was translated and back translated, supervised by an expert committee. Feedback on the first version was collected from genetic counseling patients...
Ethical issues in genetic counselling with special reference to haemoglobinopathies.
Muthuswamy, Vasantha
2011-10-01
Genetic counselling is provided in places where genetic tests are carried out. The process involves pre-test counselling as well as post-test counselling to enable the individuals to face the situation and take appropriate decisions with the right frame of mind. Major ethical principles which govern the attitudes and actions of counsellors include: respect for patient autonomy, non-maleficence, beneficence, or taking action to help benefit others and prevent harm, both physical and mental, and justice, which requires that services be distributed fairly to those in need. Other moral issues include veracity, the duty to disclose information or to be truthful, and respect for patient confidentiality. Nondirective counselling, a hallmark of this profession, is in accordance with the principle of individual autonomy. High prevalence of haemoglobinopathies with availability of good and sensitive carrier detection tests and prenatal diagnostic techniques makes these good candidates for population screening of carriers along with genetic counselling for primary prevention of the disease. Screening of the extended family members of the affected child, high risk communities and general population screening including antenatal women are the main target groups for planning a Haemoglobinopathy control programme. A critical mass of trained genetic counsellors who have understanding of the ethical issues and its appropriate handling with the required sensitivity is needed in India.
Genetic Counseling Supervisors' Self-Efficacy for Select Clinical Supervision Competencies.
Finley, Sabra Ledare; Veach, Pat McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S; Callanan, Nancy
2016-04-01
Supervision is a primary instructional vehicle for genetic counseling student clinical training. Approximately two-thirds of genetic counselors report teaching and education roles, which include supervisory roles. Recently, Eubanks Higgins and colleagues published the first comprehensive list of empirically-derived genetic counseling supervisor competencies. Studies have yet to evaluate whether supervisors possess these competencies and whether their competencies differ as a function of experience. This study investigated three research questions: (1) What are genetic counselor supervisors' perceptions of their capabilities (self-efficacy) for a select group of supervisor competencies?, (2) Are there differences in self-efficacy as a function of their supervision experience or their genetic counseling experience, and 3) What training methods do they use and prefer to develop supervision skills? One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics, self-efficacy (self-perceived capability) for 12 goal setting and 16 feedback competencies (Scale: 0-100), competencies that are personally challenging, and supervision training experiences and preferences (open-ended). A MANOVA revealed significant positive effects of supervision experience but not genetic counseling experience on participants' self-efficacy. Although mean self-efficacy ratings were high (>83.7), participant comments revealed several challenging competencies (e.g., incorporating student's report of feedback from previous supervisors into goal setting, and providing feedback about student behavior rather than personal traits). Commonly preferred supervision training methods included consultation with colleagues, peer discussion, and workshops/seminars.
Genetic Counseling: MedlinePlus Health Topic
... Craniosynostosis as a clinical and diagnostic problem: molecular pathology and... Article: GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital ... March of Dimes Birth Defects Foundation Also in Spanish ...
Personalized Genetic Risk Counseling to Motivate Diabetes Prevention
Grant, Richard W.; O’Brien, Kelsey E.; Waxler, Jessica L.; Vassy, Jason L.; Delahanty, Linda M.; Bissett, Laurie G.; Green, Robert C.; Stember, Katherine G.; Guiducci, Candace; Park, Elyse R.; Florez, Jose C.; Meigs, James B.
2012-01-01
OBJECTIVE To examine whether diabetes genetic risk testing and counseling can improve diabetes prevention behaviors. RESEARCH DESIGN AND METHODS We conducted a randomized trial of diabetes genetic risk counseling among overweight patients at increased phenotypic risk for type 2 diabetes. Participants were randomly allocated to genetic testing versus no testing. Genetic risk was calculated by summing 36 single nucleotide polymorphisms associated with type 2 diabetes. Participants in the top an...
[The emphases and basic procedures of genetic counseling in psychotherapeutic model].
Zhang, Yuan-Zhi; Zhong, Nanbert
2006-11-01
The emphases and basic procedures of genetic counseling are all different with those in old models. In the psychotherapeutic model, genetic counseling will not only focus on counselees' genetic disorders and birth defects, but also their psychological problems. "Client-centered therapy" termed by Carl Rogers plays an important role in genetic counseling process. The basic procedures of psychotherapeutic model of genetic counseling include 7 steps: initial contact, introduction, agendas, inquiry of family history, presenting information, closing the session and follow-up.
Genetic and family counselling for schizophrenia: Where do we ...
African Journals Online (AJOL)
Background: Recent genetic findings have led to profound changes in genetic and family counselling for schizophrenia patients and their families. Objectives: The article gives an overview of the present knowledge regarding the genetic and family counselling for schizophrenia. Method: Literature searches were performed ...
BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation.
Sussner, Katarina M; Edwards, Tiffany; Villagra, Cristina; Rodriguez, M Carina; Thompson, Hayley S; Jandorf, Lina; Valdimarsdottir, Heiddis B
2015-02-01
Despite the life-saving information that genetic counseling can provide for women at hereditary breast and/or ovarian cancer (HBOC) risk, Latinas disproportionately underuse such services. Understanding Latinas' beliefs and attitudes about BRCA genetic counseling may be the key to better health promotion within this underserved, at-risk group. We conducted 12 focus groups (N = 54) with at-risk Latina women in New York City, followed by 30 in-depth interviews among a subset of the focus group women. Both were professionally transcribed, translated where applicable and data analysis was completed by two coders trained in qualitative methods. Results revealed personal and community knowledge about BRCA genetic counseling was relatively low, although women felt largely positive about counseling. The main motivator to undergo genetic counseling was concerns about learning family members' cancer status, while the main barrier was competing demands. Generational differences were apparent, with younger women (approximately machismo, fatalismo, destino) to undergoing genetic counseling. Participants were largely enthusiastic about educational efforts to increase awareness of genetic counseling among Latinos. Revealing the beliefs and attitudes of underserved Latinas may help shape culturally appropriate educational materials and promotion programs to increase BRCA genetic counseling uptake within this underrepresented community.
Laurino, Mercy Y; Leppig, Kathleen A; Abad, Peter James; Cham, Breana; Chu, Yoyo Wing Yiu; Kejriwal, Saahil; Lee, Juliana M H; Sternen, Darci L; Thompson, Jennifer K; Burgess, Matthew J; Chien, Shu; Elackatt, Niby; Lim, Jiin Ying; Sura, Thanyachai; Faradz, Sultana; Padilla, Carmencita; Paz, Eva Cutiongco de-la; Nauphar, Donny; Nguyen, Khanh Ngoc; Zayts, Olya; Vu, Dung Chi; Thong, Meow-Keong
2018-02-01
The Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA's vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote quality genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education. The PSGCA was formally launched during the Genetic Counseling Pre-Conference Workshop held at the 11th Asia-Pacific Conference on Human Genetics in Hanoi, Viet Nam, September 16, 2015. The pre-conference workshop provided an opportunity for medical geneticists and genetic counselors from across 10 Asia Pacific countries to learn about the varied genetic counseling practices and strategies for genetic counseling training. This paper provides an overview of the current status and challenges in these countries, and proposed course of unified actions for the future of the genetic counseling profession.
Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.
Besser, Andria G; Mounts, Emily L
2017-04-01
The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos. This is the first commentary to thoroughly address pre- and post-test genetic counselling recommendations, as well as considerations regarding prenatal screening and diagnosis. Current data on mosaic PGS results are summarized along with embryo selection considerations and potential outcomes of embryos diagnosed as mosaic. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
Genetic Counseling and Evaluation for BRCA1/2 Testing
... Options Talking to Family Family Stories Diseases Genetic Counseling for Hereditary Breast and Ovarian Cancer Recommend on ... mutation, your doctor may refer you for genetic counseling. Understanding and dealing with a strong family health ...
Shiloh, S; Reznik, H; Bat-Miriam-Katznelson, M; Goldman, B
1995-11-01
Semi-structured interviews were conducted with 65 Israeli subjects who received genetic counselling while considering marriage to a close relative, 40 subjects married to a close relative who did not receive pre-marital genetic counselling, and 125 controls married to a nonrelative and never having considered marrying a relative. It was found that 72% of the consanguineous couples who received pre-marital genetic counselling proceeded with their plans and married their relative; 86% of them reported that the counselling influenced their final decision to some degree. Counsellees' appraisals of genetic counselling revealed unfulfilled expectations to obtain more definitive answers, and mixed reactions to the nondirective approach applied by the counsellors. Comparisons between consanguineous and control couples revealed different views about consanguinity in general, and genetic risks in particular. Consanguineous couples, unlike controls, perceived consanguinity as an ordinary form of marriage, and had more favorable attitudes towards it. Compared to the noncounselled consanguineous group, consanguineous couples who received pre-marital genetic counselling had fewer children, estimated their genetic risk as lower but its subjective significance as higher, and perceived genetic disorders as more severe. The implications of these results are discussed from both theoretical and practical standpoints.
Alexander, Chelsea K A; Veach, Patricia McCarthy; Lian, Fengqin; LeRoy, Bonnie S
2013-12-01
International exchange training in genetic counseling is increasing, but research examining these experiences is lacking. In this study 309 genetic counseling students and genetic counselors completed an anonymous survey investigating six major research questions: (1) How prevalent are international genetic counseling experiences? (2) What types are pursued and why? (3) What supports and barriers exist? 3) What are the demographic characteristics of individuals accruing international experience? (5) Does international experience promote professional development? and (6) Do genetic counseling students and professionals perceive international experiences as beneficial? Most respondents were Caucasian females born in one of 25 countries. The most prevalent experiences involved either clinical observation or clinical training. Common motivations for pursuing international experience were personal growth, exposure to a different healthcare system, and travel opportunities. Outcomes included professionally-relevant experience and personal growth. Barriers included finances, limited availability of opportunities, and for those without international experience, family responsibilities. Additional findings, practice and training implications, and research recommendations are provided.
Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13
Directory of Open Access Journals (Sweden)
Chih-Ping Chen
2010-03-01
Full Text Available Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13.
[Prenatal genetic counseling and instruction for deaf families by genetic test].
Han, Ming-yu; Huang, Sha-sha; Wang, Guo-jian; Yuan, Yong-yi; Kang, Dong-yang; Zhang, Xin; Dai, Pu
2011-11-01
Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for
Reiser, Catherine; LeRoy, Bonnie; Grubs, Robin; Walton, Carol
2015-10-01
The master's degree is the required entry-level degree for the genetic counseling profession in the US and Canada. In 2012 the Association of Genetic Counseling Program Directors (AGCPD) passed resolutions supporting retention of the master's as the entry-level and terminal degree and opposing introduction of an entry-level clinical doctorate (CD) degree. An AGCPD workgroup surveyed directors of all 34 accredited training programs with the objective of providing the Genetic Counseling Advanced Degrees Task Force (GCADTF) with information regarding potential challenges if master's programs were required to transition to an entry-level CD. Program demographics, projected ability to transition to an entry-level CD, factors influencing ability to transition, and potential effects of transition on programs, students and the genetic counseling workforce were characterized. Two programs would definitely be able to transition, four programs would close, thirteen programs would be at risk to close and fourteen programs would probably be able to transition with varying degrees of difficulty. The most frequently cited limiting factors were economic, stress on clinical sites, and administrative approval of a new degree/program. Student enrollment under an entry-level CD model was projected to decrease by 26.2 %, negatively impacting the workforce pipeline. The results further illuminate and justify AGCPD's position to maintain the master's as the entry-level degree.
Uptake of genetic counselling services by patients with cystic fibrosis ...
African Journals Online (AJOL)
Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing ...
Level of awareness of genetic counselling in Lagos, Nigeria: its ...
African Journals Online (AJOL)
Level of awareness of genetic counselling in Lagos, Nigeria: its advocacy on the inheritance of sickle cell disease. ... and the level of awareness about genetic counseling in 30 hospitals were carried out. ... AJOL African Journals Online.
Schmidlen, Tara; Sturm, Amy C; Hovick, Shelly; Scheinfeldt, Laura; Scott Roberts, J; Morr, Lindsey; McElroy, Joseph; Toland, Amanda E; Christman, Michael; O'Daniel, Julianne M; Gordon, Erynn S; Bernhardt, Barbara A; Ormond, Kelly E; Sweet, Kevin
2018-02-19
With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.
The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.
Björkman, Maria
2015-09-01
This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public.
Risk perception after genetic counseling in patients with increased risk of cancer
Directory of Open Access Journals (Sweden)
Rantala Johanna
2009-08-01
Full Text Available Abstract Background Counselees are more aware of genetics and seek information, reassurance, screening and genetic testing. Risk counseling is a key component of genetic counseling process helping patients to achieve a realistic view for their own personal risk and therefore adapt to the medical, psychological and familial implications of disease and to encourage the patient to make informed choices 12. The aim of this study was to conceptualize risk perception and anxiety about cancer in individuals attending to genetic counseling. Methods The questionnaire study measured risk perception and anxiety about cancer at three time points: before and one week after initial genetic counseling and one year after completed genetic investigations. Eligibility criteria were designed to include only index patients without a previous genetic consultation in the family. A total of 215 individuals were included. Data was collected during three years period. Results Before genetic counseling all of the unaffected participants subjectively estimated their risk as higher than their objective risk. Participants with a similar risk as the population overestimated their risk most. All risk groups estimated the risk for children's/siblings to be lower than their own. The benefits of preventive surveillance program were well understood among unaffected participants. The difference in subjective risk perception before and directly after genetic counseling was statistically significantly lower in all risk groups. Difference in risk perception for children as well as for population was also statistically significant. Experienced anxiety about developing cancer in the unaffected subjects was lower after genetic counseling compared to baseline in all groups. Anxiety about cancer had clear correlation to perceived risk of cancer before and one year after genetic investigations. The affected participants overestimated their children's risk as well as risk for anyone in
Directory of Open Access Journals (Sweden)
Marco Lucci
2013-10-01
Full Text Available Background: there are many reasons why a couple may seek specialist genetic counselling about foetal risk. The referral for prenatal genetic counselling of women with a known risk factor during pregnancy has many disadvantages. Despite this, 10-20% of women seek counselling when already pregnant.Methods: data on 804 pregnant women out of 2 158 (37.3% referred for genetic counselling in 2010 to three Clinical Genetic Services were retrospectively analysed. Patients referred only for advanced maternal age were analysed in a separate study.Results: the 804 pregnant women were referred for 932 counselling issues. 325 issues (34.9% were identified during pregnancy and 607 (65.1% were pre-existing. 81.2% of Italians compared to 41.8% of the non-Italians (P<0.01 had access to counselling before 13 weeks of gestation for risk factors present before pregnancy. An accurate genetic diagnosis was available in 25.0% of cases. In 21.7% of the cases an elevated a priori risk of >10% for the unborn child was established.Conclusions: genetic services provide 37.3% of counselling to pregnant women. Referral for genetic counselling during pregnancy can require considerable resources and pose significant ethical and organizational challenges. New models of pregnancy care in the community need to be developed. General practitioners and gynaecologists have an important role in the referral and in the defence of equity of access and a more structured approach to the participation of medical geneticists to primary practice should be considered.
The future is now: Technology's impact on the practice of genetic counseling.
Gordon, Erynn S; Babu, Deepti; Laney, Dawn A
2018-03-01
Smartphones, artificial intelligence, automation, digital communication, and other types of technology are playing an increasingly important role in our daily lives. It is no surprise that technology is also shaping the practice of medicine, and more specifically the practice of genetic counseling. While digital tools have been part of the practice of medical genetics for decades, such as internet- or CD-ROM-based tools like Online Mendelian Inheritance in Man and Pictures of Standard Syndromes and Undiagnosed Malformations in the 1980s, the potential for emerging tools to change how we practice and the way patients consume information is startling. Technology has the potential to aid in at-risk patient identification, assist in generating a differential diagnosis, improve efficiency in medical history collection and risk assessment, provide educational support for patients, and streamline follow-up. Here we review the historic and current uses of technology in genetic counseling, identify challenges to integration, and propose future applications of technology that can shape the practice of genetic counseling. © 2018 Wiley Periodicals, Inc.
Sanborn, Erica; Patterson, Annette R
2014-08-01
Over the past two decades, disability activists, ethicists, and genetic counselors have examined the moral complexities inherent in prenatal genetic counseling and considered whether and in what ways genetic counseling may negatively affect individuals in the disability community. Many have expressed concerns about defining disability in the context of prenatal decision-making, as the definition presented may influence prenatal choices. In the past few years, publications have begun to explore the responsibility of counselors in presenting a balanced view of disability and have questioned the preparedness of counselors for this duty. Currently, the Accreditation Council for Genetic Counseling (ACGC) only minimally includes disability training in their competencies for genetic counselors, and in their accreditation requirements for training programs. In an attempt to describe current practice, this article details two studies that assess disability training in ABGC-accredited genetic counseling programs. Results from these studies demonstrate that experience with disability is not required by the majority of programs prior to matriculation. Though most program directors agree on the importance of including disability training in the curriculum, there is wide variability in the amount and types of training students receive. Hours dedicated to disability exposure among programs ranged from 10 to 600 hours. Eighty-five percent of program directors surveyed agree that skills for addressing disability should be added to the core competencies. Establishing a set of disability competencies would help to ensure that all graduates have the skills necessary to provide patients with an accurate understanding of disability that facilitates informed decision-making. © 2014 Wiley Periodicals, Inc.
Li, L; Qiu, L; Wu, M
2017-11-21
Objective: To analyze patients' tendency towards genetics counseling and tests based on a prospective cohort study on hereditary ovarian cancer. Methods: From February 2017 to June 2017, among 220 cases of epithelial ovarian cancer in Peking Union Medical College Hospital, we collected epidemiological, pathological and tendency towards genetics counseling and tests via medical records and questionnaire.All patients would get education about hereditary ovarian cancer by pamphlets and WeChat.If they would receive further counseling, a face to face interview and tests will be given. Results: Among all 220 patients, 10 (4.5%) denied further counseling.For 210 patients receiving genetic counseling, 170 (81%) accepted genetic tests.In multivariate analysis, risk factors relevant to acceptance of genetic tests included: being charged by physicians of gynecologic oncology for diagnosis and treatment, receiving counseling in genetic counseling clinics, and having family history of breast cancer.For patients denying genetic tests, there were many subjective reasons, among which, "still not understanding genetic tests" (25%) and "unable bear following expensive targeting medicine" . Conclusions: High proportion patients of epithelial ovarian cancer would accept genetic counseling and tests.Genetic counseling clinics for gynecologic oncology would further improve genetic tests for patients.
Alternate service delivery models in cancer genetic counseling: a mini-review
Directory of Open Access Journals (Sweden)
Adam Hudson Buchanan
2016-05-01
Full Text Available Demand for cancer genetic counseling has grown rapidly in recent years as germline genomic information has become increasingly incorporated into cancer care and the field has entered the public consciousness through high-profile celebrity publications. Increased demand and existing variability in the availability of trained cancer genetics clinicians place a priority on developing and evaluating alternate service delivery models for genetic counseling. This mini-review summarizes the state of science regarding service delivery models such as telephone counseling, telegenetics and group counseling. Research on comparative effectiveness of these models in traditional individual, in-person genetic counseling has been promising for improving access to care in a manner acceptable to patients. Yet, it has not fully evaluated the short- and long-term patient- and system-level outcomes that will help answer the question of whether these models achieve the same beneficial psychosocial and behavioral outcomes as traditional cancer genetic counseling. We propose a research agenda focused on comparative effectiveness of available service delivery models and how to match models to patients and practice settings. Only through this rigorous research can clinicians and systems find the optimal balance of clinical quality, ready and secure access to care, and financial sustainability. Such research will be integral to achieving the promise of genomic medicine in oncology.
Peering into a Chilean black box: parental storytelling in pediatric genetic counseling.
Ordonez, Jessica; Margarit, Sonia; Downs, Katy; Yashar, Beverly M
2013-12-01
While genetic counseling has expanded to multiple international settings, research about providing culturally sensitive services to non-U.S. patients is limited. To gain insights, we utilized a process study to explore parental communication in pediatric genetics clinics in Chile. We utilized a phenomenological hermeneutic approach to assess storytelling in six pediatric sessions that were conducted in Spanish, and translated into English. The majority of the sessions focused on information gathering (35 %), and providing medical (20 %) and genetics education (18 %). The 14 instances of storytelling we identified usually emerged during information gathering, genetics education, and the closing of the session. Stories illustrated parental efforts to create a cognitive and emotional context for their child's genetic diagnosis. Parents emerged as competent caregivers who discussed the role of the child as a social being in the family and the larger community. Our analysis found that genetic counseling sessions in the U.S. and Chile are structured similarly and although communication is not a balanced process, parents use storytelling to participate as active agents in the session. Via storytelling, we learned that parents are working to understand and gain control over their child's genetic diagnosis by relying on mechanisms that extend beyond the genetics appointment.
Sheppard, Vanessa B; Graves, Kristi D; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia
2014-06-01
Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n = 13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n = 8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community.
Genetic Counseling for Diabetes Mellitus
Stein, Stephanie A.; Maloney, Kristin L.; Pollin, Toni I.
2014-01-01
Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and/or the effects of maternal hyperglycemia on pregnancy outcome. An estimated one to five percent of diabetes is monogenic in nature, e.g., maturity onset diabetes of the young (MODY), with molecular testing and etiology-based treatment available. However, recent studies show that most monogenic diabetes is misdiagnosed as T1DM or T2DM. While efforts are underway to increase the rate of diagnosis in the diabetes clinic, genetic counselors and clinical geneticists are in a prime position to identify monogenic cases through targeted questions during a family history combined with working in conjunction with diabetes professionals to diagnose and assure proper treatment and familial risk assessment for individuals with monogenic diabetes. PMID:25045596
Personalized Genetic Risk Counseling to Motivate Diabetes Prevention: A randomized trial
Grant, Richard W.; O’Brien, Kelsey E.; Waxler, Jessica L.; Vassy, Jason L.; Delahanty, Linda M.; Bissett, Laurie G.; Green, Robert C.; Stember, Katherine G.; Guiducci, Candace; Park, Elyse R.; Florez, Jose C.; Meigs, James B.
2013-01-01
OBJECTIVE To examine whether diabetes genetic risk testing and counseling can improve diabetes prevention behaviors. RESEARCH DESIGN AND METHODS We conducted a randomized trial of diabetes genetic risk counseling among overweight patients at increased phenotypic risk for type 2 diabetes. Participants were randomly allocated to genetic testing versus no testing. Genetic risk was calculated by summing 36 single nucleotide polymorphisms associated with type 2 diabetes. Participants in the top an...
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Tintelen, J Peter; van Langen, Irene M
2015-11-01
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas the number of professionals available to provide this is limited. We therefore piloted group genetic counselling for symptomatic cardiomyopathy patients at regional hospitals, to assess whether this could be an acceptable alternative to individual counselling. We performed a cohort study with pre- and post-counselling patient measurements using questionnaires, supplemented with evaluations of the group counselling format by the professionals involved. Patients from eight regional hospitals in the northern part of the Netherlands were included. Questionnaires comprised patient characteristics, psychological measures (personal perceived control (PPC), state and trait anxiety inventory (STAI)), and satisfaction with counsellors, counselling content and design. In total, 82 patients (mean age 57.5 year) attended one of 13 group sessions. Median PPC and STAI scores showed significantly higher control and lower anxiety after the counselling. Patients reported they were satisfied with the counsellors, and almost 75% of patients were satisfied with the group counselling. Regional professionals were also, overall, satisfied with the group sessions. The genetics professionals were less satisfied, mainly because of their perceived large time investment and less-than-expected group interaction. Hence, a group approach to cardiogenetic counselling is feasible, accessible, and psychologically effective, and could be one possible approach to counselling the increasing patient numbers in cardiogenetics.
Reed, Amy R
2016-10-19
This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent genetic counselors as neutral parties. Ultimately, this article argues that this ambiguity is harmful to the production of a professional habitus that is consistent with espoused professional values concerning respect for persons with disabilities and the promotion of psychosocial counseling.
Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?
Austin, Jehannine; Caleshu, Colleen
2016-01-01
Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy. PMID:27804046
Prevalence and detection of psychosocial problems in cancer genetic counseling.
Eijzenga, W; Bleiker, E M A; Hahn, D E E; Van der Kolk, L E; Sidharta, G N; Aaronson, N K
2015-12-01
Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the prevalence of such psychosocial problems, and to identify possible demographic and clinical variables associated significantly with them. Consenting individuals scheduled to undergo cancer genetic counseling completed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire, the Hospital Anxiety and Depression Scale (HADS) and the Distress Thermometer (DT) prior to or immediately following their counseling session. More than half of the 137 participants reported problems on three or more domains of the PAHC, most often in the domains 'living with cancer' (84%), 'family issues' (46%), 'hereditary predisposition' (45%), and 'child-related issues' (42%). Correlations between the PAHC, the HADS and the DT were low. Previous contact with a psychosocial worker, and having a personal history of cancer were associated significantly with HADS scores, but explained little variance (9%). No background variables were associated significantly with the DT. Previous contact with a psychosocial worker, and having children were significantly associated with several PAHC domains, again explaining only a small percentage of the variance (2-14%). The majority of counselees experience specific cancer genetic counseling-related psychosocial problems. Only a few background variables are associated significantly with distress or psychosocial problems. Thus we recommend using the PAHC or a similar problem-oriented questionnaire routinely in cancer genetic counseling to identify individuals with such problems.
Kyung Lee, Hyun; McCarthy Veach, Patricia; LeRoy, Bonnie S
2009-06-01
As racial and ethnic diversity increase in the U.S., genetic counselor multicultural competence is growing in importance. In mental health counseling, supervisor multicultural competence has been shown to promote supervisees' multicultural competence. Moreover, developmentally-advanced supervisors tend to be more effective. This study was designed to investigate relationships among genetic counselor supervisors' perceived multicultural counseling competence and development as supervisors, and their ability to evaluate a supervisee's multicultural skills. One hundred twenty-two supervisors completed an online survey of demographics, the Multicultural Counseling Knowledge and Awareness Scale, the Supervisor Development Scale, and a hypothetical vignette in which they evaluated a supervisee's multicultural skills and provided written feedback. Stepwise multiple regression yielded five significant predictors accounting for 31% of the variance in accuracy of supervisor evaluations of the student: multicultural awareness, multicultural knowledge, age, supervision experience, and supervisor development. Six feedback themes were identified from written responses. Practice and research suggestions are provided.
Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge
2013-08-01
Recent advances in molecular genetics have allowed the determination of the genetic cause of some childhood non-syndromic deafness. In Portugal only a small proportion of families are referred to a clinical genetics service in order to clarify the etiology of the deafness and to provide genetic counseling. Consequently, there are no published studies of the prior beliefs of parents about the causes of hereditary deafness of their children and their genetic knowledge after receipt of genetic counseling. In order to evaluate the impact of genetic counseling, 44 parents of 24 children with the diagnosis of non-syndromic sensorineural prelingual deafness due to mutations in the GJB2 (connexin 26), completed surveys before and after genetic counseling. Before counseling 13.6 % of the parents knew the cause of deafness; at a post-counseling setting this percentage was significantly higher, with 84.1 % of the parents accurately identifying the etiology. No significant differences were found between the answers of mothers and fathers either before or after genetic counseling. Parents' level of education was a significant factor in pre-test knowledge. After genetic counseling 95.5 % of the parents stated that the consultation had met their expectations, 70.5 % remembered correctly the inheritance pattern, and 93.2 % correctly recalled the chance of risk of deafness. These results underline the importance of genetic counseling in demystifying parents' beliefs about the etiology of their children's deafness.
Social and cultural issues in genetic counselling
Indian Academy of Sciences (India)
Home; Journals; Journal of Biosciences; Volume 40; Issue 2. Social and cultural issues in genetic counselling. Meenakshi Bhat. Perspectives Volume 40 Issue 2 June 2015 pp 217-220. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/jbsc/040/02/0217-0220. Keywords. Genetic ...
Amara, Nabil; Blouin-Bougie, Jolyane; Jbilou, Jalila; Halilem, Norrin; Simard, Jacques; Landry, Réjean
2016-01-01
The aim of this paper is twofold: to analyze the genetic counseling process for breast cancer with a theoretical knowledge transfer lens and to compare generalists, medical specialists, and genetic counselors with regards to their genetic counseling practices. This paper presents the genetic counseling process occurring within a chain of value-adding activities of four main stages describing health professionals' clinical practices: (1) evaluation, (2) investigation, (3) information, and (4) decision. It also presents the results of a cross-sectional study based on a Canadian medical doctors and genetic counselors survey (n = 176) realized between July 2012 and March 2013. The statistical exercise included descriptive statistics, one-way ANOVA and post-hoc tests. The results indicate that even though all types of health professionals are involved in the entire process of genetic counseling for breast cancer, genetic counselors are more involved in the evaluation of breast cancer risk, while medical doctors are more active in the decision toward breast cancer risk management strategies. The results secondly demonstrate the relevance and the key role of genetic counselors in the care provided to women at-risk of familial breast cancer. This paper presents an integrative framework to understand the current process of genetic counseling for breast cancer in Canada, and to shed light on how and where health professionals contribute to the process. It also offers a starting point for assessing clinical practices in genetic counseling in order to establish more clearly where and to what extent efforts should be undertaken to implement future genetic services.
Sheppard, Vanessa B.; Graves, Kristi D.; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia
2014-01-01
Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n=13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n= 8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community. PMID:24186304
Wilson, R Douglas
2017-10-11
To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. This information may allow improved risk assessment for pre-conception counselling for individual patients and their families. PubMed or Medline and the Cochrane Database were searched in May 2017 using appropriate key words ("pre-conception," "genetic disease," "maternal," "family history," "genetic," "health risk," "genetic health surveillance," "prenatal screening," "prenatal diagnosis," "birth defects," and "teratogen"). Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies. The benefits for the patient and her family include an increased understanding of relevant genetic risk pre-conception and in early pregnancy, and better pregnancy outcomes as a result of use of the information. The harm includes potential increased anxiety or psychological stress associated with the possibility of identifying genetic risks. The evidence obtained was peer-reviewed by the Genetics Committee of The Society of Obstetricians and Gynaecologists of Canada. Consideration for Care Statements For this review article, the Consideration for Care Statements use the GRADE strength and quality as it is comparable for the clinician and the patient/public user. [GRADE from the Canadian Task Force on Preventive Health Care (www.canadiantaskforce.ca). For clinicians, Strong = The recommendation would apply to most individuals. Formal discussion aids are not likely to be
Translation and adaption of the Genetic Counseling Outcome Scale (GCOS-24) to Danish
DEFF Research Database (Denmark)
Diness, Birgitte Rode; Overbeck, Gritt; Duelund, T.
2013-01-01
Background and aim: The ability to measure patient outcomes from genetic counselling is a prerequisite for evidencebased development of practice. The Genetic Counselling Outcome Scale (GCOS-24) is a recently developed patient reported outcome measure. The aim of this project was to develop a Danish...... perception of genetic counseling and genetic conditions and led to adjustments of the original translation, leading to development of a tool better-suited to the target population. We would recommend the described approach when attempting translation of patient reported outcome measures...
Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan
2015-05-01
Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Redlinger-Grosse, Krista; Veach, Patricia McCarthy; LeRoy, Bonnie S; Zierhut, Heather
2017-12-01
As the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present study was to further elaborate and provide supporting evidence for the REM by identifying and mapping genetic counseling strategies to the REM goals. A secondary, qualitative analysis was conducted on data from two prior studies: 1) focus group results of genetic counseling outcomes (Redlinger-Grosse et al., Journal of Genetic Counseling, 2015); and 2) genetic counselors' examples of successful and unsuccessful genetic counseling sessions (Geiser et al. 2009). Using directed content analysis, 337 unique strategies were extracted from focus group data. A Q-sort of the 337 strategies yielded 15 broader strategy domains that were then mapped to the successful and unsuccessful session examples. Differing prevalence of strategy domains identified in successful sessions versus the prevalence of domains identified as lacking in unsuccessful sessions provide further support for the REM goals. The most prevalent domains for successful sessions were Information Giving and Use Psychosocial Skills and Strategies; and for unsuccessful sessions, Information Giving and Establish Working Alliance. Identified strategies support the REM's reciprocal nature, especially with regard to addressing patients' informational and psychosocial needs. Patients' contributions to success (or lack thereof) of sessions was also noted, supporting a REM tenet that individual characteristics and the counselor-patient relationship are central to processes and outcomes. The elaborated REM could be used as a framework for certain graduate curricular objectives, and REM components could also inform process and outcomes research studies to document and further characterize genetic counselor strategies.
Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?
Biesecker, Barbara; Austin, Jehannine; Caleshu, Colleen
2017-04-01
Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy.
Clinical utility of fetal autopsy and its impact on genetic counseling.
Nayak, Shalini S; Shukla, Anju; Lewis, Leslie; Kadavigere, Rajagopal; Mathew, Mary; Adiga, Prashanth K; Vasudeva, Akhila; Kumar, Pratap; Shetty, Jyothi; Shah, Hitesh; Girisha, Katta M
2015-07-01
We aimed to analyze the utility of fetal autopsy in terms of its contribution to establishing a definitive diagnosis and its impact on genetic counseling. Detailed fetal autopsy was carried out in fetuses referred for examination. Clinical utility of fetal autopsy and its impact on counseling were measured by adapting previously published parameters. We performed autopsy in 230 fetuses. There were 106 cases with single system and 92 cases with multisystem involvement. We confirmed prenatal findings in 23% of cases and observed additional findings in 37% of cases. In 23% of cases, autopsy findings differed enough to change the diagnosis. However, in 17% of fetuses, no cause of fetal loss was determined. Risk of recurrence became clear in 30.3% of the fetuses, and risk remained the same, but the diagnosis was different in 4.8% of cases after autopsy. Hence, autopsy led to refinement of the risk of recurrence in 36% of cases. Autopsy aided prenatal counseling of couples in 77% of cases by either confirming the prenatal findings (35%) or providing new information/ruling out a diagnosis (42%). The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort. © 2015 John Wiley & Sons, Ltd.
Risk perception among women receiving genetic counseling: a population-based follow-up study
DEFF Research Database (Denmark)
Mikkelsen, Ellen M; Sunde, Lone; Johansen, Christoffer
2007-01-01
-up study of 213 women who received genetic counseling for hereditary breast and ovarian cancer, 319 women who underwent mammography (Reference Group I), and a random sample of 1070 women from the general population (Reference Group II). RESULTS: Women who received genetic counseling decreased...... counseling, compared to a reduction of 5% (p=0.03) and 2% (p=0.01) in Reference Groups I and II, respectively. Risk communicated only in words, inaccurate risk perception at baseline, and presence of a familial mutation appeared to be predictors of inaccurate risk perception 12 months after counseling......BACKGROUND: We aimed to explore the impact of genetic counseling on perceived personal lifetime risk of breast cancer, the accuracy of risk perception, and possible predictors of inaccurate risk perception 1 year following counseling. METHODS: We conducted a population-based prospective follow...
Directory of Open Access Journals (Sweden)
Datta SK
2011-05-01
Full Text Available Santanu K Datta1,2, Adam H Buchanan3, Gail P Hollowell4, Henry F Beresford5, Paul K Marcom1,3, Martha B Adams1,61Department of Medicine, Duke University; 2Center for Health Services Research in Primary Care, Durham VA Medical Center; 3Duke Cancer Institute, Duke University; 4Department of Biology, North Carolina Central University; 5School of Nursing, Duke University; 6Department of Community and Family Medicine, Duke University, Durham, NC, USAAbstract: Cancer genetic counseling (CGC provides benefits and is the standard of care for individuals at increased risk of having a hereditary cancer syndrome. CGC services are typically centered in urban medical centers, leading to limited access to counseling in rural communities. Telemedicine has the potential to improve access to CGC, increase efficient use of genetic counselors, and improve patient care in rural communities. For telemedicine CGC to gain wide acceptance and implementation it needs to be shown that individuals who receive telemedicine CGC have high satisfaction levels and that CGC is cost-effective; however little research has been conducted to measure the impact of telemedicine CGC. This paper describes the design and methodology of a randomized controlled trial comparing telemedicine with in-person CGC. Measurement of patient satisfaction and effectiveness outcomes are described, as is measurement of costs that are included in an economic analysis. Study design and methodologies used are presented as a contribution to future comparative effectiveness investigations in the telemedicine genetic counseling field.Keywords: cancer genetics, genetic counseling, rural health services, telemedicine, satisfaction, cost
Albada, Akke; van Dulmen, Sandra; Spreeuwenberg, Peter; Ausems, Margreet G E M
Objective: Pre-counseling education helps counselees to prepare for breast cancer genetic counseling and might subsequently result in more positive experiences, improved cognitive outcomes and more experienced control. This study assessed the effects of a website with tailored information and a
Albada, A.; Dulmen, S. van; Spreeuwenberg, P.; Ausems, M.G.E.M.
2015-01-01
Objective: Pre-counseling education helps counselees to prepare for breast cancer genetic counseling and might subsequently result in more positive experiences, improved cognitive outcomes and more experienced control. This study assessed the effects of a website with tailored information and a
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Bleiker Eveline MA
2007-06-01
Full Text Available Abstract Background This study examined: (1 levels of cancer-specific distress more than one year after genetic counselling for hereditary nonpolyposis colorectal cancer (HNPCC; (2 associations between sociodemographic, clinical and psychosocial factors and levels of distress; (3 the impact of genetic counselling on family relationships, and (4 social consequences of genetic counselling. Methods In this cross-sectional study, individuals who had received genetic counselling for HNPCC during 1986–1998 completed a self-report questionnaire by mail. Results 116 individuals (81% response rate completed the questionnaire, on average 4 years after the last counselling session. Of all respondents, 6% had clinically significant levels of cancer-specific distress (Impact of Event Scale, IES. Having had contact with a professional psychosocial worker for cancer risk in the past 10 years was significantly associated with higher levels of current cancer specific distress. Only a minority of the counselees reported any adverse effects of genetic counselling on: communication about genetic counselling with their children (9%, family relationships (5%, obtaining life insurance (8%, choice or change of jobs (2%, and obtaining a mortgage (2%. Conclusion On average, four years after genetic counselling for HNPCC, only a small minority of counselled individuals reports clinically significant levels of distress, or significant family or social problems.
International Nuclear Information System (INIS)
Afroze, B.; Jehan, F.
2014-01-01
Objective: To assess the needs related to prenatal genetic counselling in a developing country. Methods: The prospective observational study was conducted at the Prenatal-Genetic Counselling Clinic of Aga Khan University Hospital, Karachi, from October 2007 to September 2010. In-depth interviews were conducted and the data was stored in the form of patient charts. Information was then extracted from the charts and entered into a structured questionnaire. Results: Of the 93 couples in the study, 49(53%) were in the self-referral group and 44(47%) were in the physician-referral group. Diagnosis was not given for previously affected children by the paediatrician or by obstetrician for recurrent miscarriages in 68(73%)cases. Besides, 20(22%) couples had voluntarily terminated a pregnancy without any tests because of the fear of having a diseased child. Eleven (12%) couples were looking for amniocentensis or chorionic villus sampling. Death in previous children was the main reason to seek genetic counselling and was seen in 57(61%) couples. Consanguinity was seen in 77(83%) couples. Conclusion: A clear deficiency of knowledge of genetics was seen among the non-genetic healthcare providers. Demand of antenatal genetic testing among the public was also seen, highlighting the need of diagnostic facility for genetic and metabolic disorders. However, this needs to be explored in the context of the existing healthcare infrastructure. (author)
Hooker, Gillian W; Babu, D; Myers, M F; Zierhut, H; McAllister, M
2017-06-01
As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Counselors (NSGC) convened a task force in 2015 to develop consensus standards for the reporting of genetic counseling interventions. Following review by the NSGC Board of Directors, the NSGC Practice Guidelines Committee and the editorial board of the Journal of Genetic Counseling, 23 items across 8 domains were proposed as standards for the reporting of genetic counseling interventions in the published literature (GCIRS: Genetic Counseling Intervention Reporting Standards). The authors recommend adoption of these standards by authors and journals when reporting studies involving genetic counseling interventions.
Researcher responsibilities and genetic counseling for pure-bred dog populations.
Bell, Jerold S
2011-08-01
Breeders of dogs have ethical responsibilities regarding the testing and management of genetic disease. Molecular genetics researchers have their own responsibilities, highlighted in this article. Laboratories offering commercial genetic testing should have proper sample identification and quality control, official test result certificates, clear explanations of test results and reasonably priced testing fees. Providing test results to a publicly-accessible genetic health registry allows breeders and the public to search for health-tested parents to reduce the risk of producing or purchasing affected offspring. Counseling on the testing and elimination of defective genes must consider the effects of genetic selection on the population. Recommendations to breed quality carriers to normal-testing dogs and replacing them with quality normal-testing offspring will help to preserve breeding lines and breed genetic diversity. Copyright © 2011 Elsevier Ltd. All rights reserved.
Role of genetic counselling in prenatal diagnosis of beta-thalassaemia in pakistan
International Nuclear Information System (INIS)
Bozdar, M.; Hanif, T.B.
2013-01-01
To compare the response towards prenatal diagnosis (PND) of b-thalassaemia, in individuals who had not received genetic counselling and a genetically counselled population. Study Design: Cross-sectional survey. Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi, from March 2009 to December 2010. Methodology: Using non-probability consecutive sampling, a total of 176 individuals having thalassaemic children, were interviewed regarding PND of thalassaemia, by using a structured questionnaire. Forty two individuals were taken as controls as they had received genetic counselling for PND, whereas the remaining 134 were taken as cases. Responses towards PND were compared using chi-square test. Odds ratio was also calculated for subsequent PND utilization. Results: Seventy (52.2%) cases and 42 (100%) controls were aware of the availability of PND in Pakistan. This difference in awareness was statistically significant (p < 0.001). In the controls, 40 (95.3%) individuals were aware of the appropriate timing of the test, in contrast to 52 (39%) cases (p < 0.001). PND was used in subsequent pregnancies by 50 (37.3%) cases and 32 (80%) controls (p < 0.001). The calculated odds ratio for subsequent PND utilization was 5.37. Conclusion: The study reflects a very positive attitude of genetically counselled thalassaemia affected families towards PND. For better utilization of PND, genetic counselling services should be available at all health strata. (author)
Health Providers' Counselling of Caregivers in the Integrated ...
African Journals Online (AJOL)
Results: Health providers performed well in assessing the child's problem (85%); listening (100%); use of simple language (95%); use of kind tone of voice (99%); showing interest in caregivers (99%); giving feeding ... Keywords: Child, preschool; infant; health-provider; caregiver; counselling; IMCI-counselling; Uganda
Harris, A.; Kelly, S.; Wyatt, S.
2013-01-01
Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing
Hunter, MJ; Hippman, Catriona; Honer, William G; Austin, Jehannine C.
2014-01-01
Purpose Recent studies have shown that individuals with schizophrenia and their family members are interested in genetic counseling, but few have received this service. We conducted an exploratory, retrospective study to describe (a) the population of individuals who were referred to the provincial program for genetic counseling for a primary indication of schizophrenia, and (b) trends in number of referrals between 1968 and 2007. Methods Referrals for a primary indication of schizophrenia were identified through the provincial program database. Charts were reviewed and the following information was recorded: discipline of referring physician, demographics, psychiatric diagnosis, referred individual’s and partner’s (if applicable) family history, and any current pregnancy history. Data were characterized using descriptive statistics. Results Between 1968 and 2007, 288 referrals were made for a primary indication of schizophrenia. Most referrals were made: (a) for individuals who had a first-degree family member with schizophrenia, rather than for affected individuals, (b) for preconception counseling, and (c) by family physicians (69%), with only 2% by psychiatrists. Conclusions In British Columbia, individuals affected with schizophrenia and their family members are rarely referred for psychiatric genetic counseling. There is a need to identify barriers to psychiatric genetic counseling and develop strategies to improve access. PMID:20034078
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Mary P. Metcalf
2010-01-01
Full Text Available Background: It is increasingly important that physicians have a thorough understanding of the basic science of human genetics and the ethical, legal and social implications (ELSI associated with genetic testing and counseling. Methods: The authors developed a series of web-based courses for medical students on these topics. The course modules are interactive, emphasize clinical case studies, and can easily be incorporated into existing medical school curricula. Results: Results of a ‘real world’ effectiveness trial indicate that the courses have a statistically significant effect on knowledge, attitude, intended behavior and self-efficacy related to genetic testing (p<0.001; N varies between 163 and 596 for each course. Conclusions: The results indicate that this curriculum is an effective tool for educating medical students on the ELSI associated with genetic testing and for promoting positive changes in students' confidence, counseling attitudes and behaviors.
Cancer Genetics Risk Assessment and Counseling (PDQ®)—Health Professional Version
Cancer genetics risk assessment and genetic counseling includes family history, psychosocial assessments, and education on hereditary cancer syndromes, testing, and risk. Get more information including the ethical, legal, and social implications of genetic testing in this summary for clinicians.
Eijzenga, Willem; Aaronson, Neil K; Kluijt, Irma; Sidharta, Grace N; Hahn, Daniela Ee; Ausems, Margreet Gem; Bleiker, Eveline Ma
2014-01-15
distress, specific psychosocial problems, satisfaction with care received, and experience using the PAHC questionnaire. This study will provide empirical evidence regarding the efficacy of a relatively brief psychosocial screening questionnaire in terms of facilitating personalized communication, increasing counselors' awareness, and optimizing management of psychosocial problems in the cancer genetic counseling setting. This study is registered at the Netherlands Trial Register (NTR3205) and ClinicalTrials.gov (NCT01562431).
[Views of Icelandic women towards genetic counseling - and testing of BRCA2 mutations].
Jonsdottir, Thordis; Valdimarsdottir, Heiddis; Tryggvadottir, Laufey; Lund, Sigrun Helga; Thordardottir, Marianna; Magnusson, Magnus Karl; Valdimarsdottir, Unnur
2018-01-01
Introduction The aim of this study was to explore the attitudes of Icelandic women towards existing genetic information, genetic counseling and genetic testing for BRCA mutations which dramatically increase risk for aggressive cancers. Materials and methods Women attending the cancer prevention clinic in Reykjavik, capital of Iceland, from October 12th until November 20th 2015 received an invitation to participate. Participation involved answering a short online questionnaire about background, family history of cancer as well as attitudes towards genetic counseling, BRCA testing and preventive use of such information. Descriptive statistics and chi-square tests were used to describe differences in attitudes towards those questions between subgroups of women. Results 1129 women (69% response rate) answered the questionnaire. Mean age was 47 years (span 21-76 years). Around half (47%) had heard fairly much about the mutations. Independent of family history of cancer, the majority of women were positive towards receiving genetic counseling (79%) and to undergo genetic testing (83%) for BRCA mutation with younger women being more interested than older women. On the other hand, only 4% of the women had already received genetic counseling and 7% undergone genetic testing. Women with family history of cancer were more knowledgeable about BRCA mutations (pcounseling and testing for BRCA mutations although half of them worry that a positive result might affect their health insurance. Nevertheless, almost all women believe that existing genetic information should be used to inform carriers for preventive purposes.
Bradbury, Angela R; Patrick-Miller, Linda; Long, Jessica; Powers, Jacquelyn; Stopfer, Jill; Forman, Andrea; Rybak, Christina; Mattie, Kristin; Brandt, Amanda; Chambers, Rachelle; Chung, Wendy K; Churpek, Jane; Daly, Mary B; Digiovanni, Laura; Farengo-Clark, Dana; Fetzer, Dominique; Ganschow, Pamela; Grana, Generosa; Gulden, Cassandra; Hall, Michael; Kohler, Lynne; Maxwell, Kara; Merrill, Shana; Montgomery, Susan; Mueller, Rebecca; Nielsen, Sarah; Olopade, Olufunmilayo; Rainey, Kimberly; Seelaus, Christina; Nathanson, Katherine L; Domchek, Susan M
2015-06-01
Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.
Schwartz, Marc D; Peshkin, Beth N; Isaacs, Claudine; Willey, Shawna; Valdimarsdottir, Heiddis B; Nusbaum, Rachel; Hooker, Gillian; O'Neill, Suzanne; Jandorf, Lina; Kelly, Scott P; Heinzmann, Jessica; Zidell, Aliza; Khoury, Katia
2018-04-02
Breast cancer patients who carry BRCA1/BRCA2 gene mutations may consider bilateral mastectomy. Having bilateral mastectomy at the time of diagnosis not only reduces risk of a contralateral breast cancer, but can eliminate the need for radiation therapy and yield improved reconstruction options. However, most patients do not receive genetic counseling or testing at the time of their diagnosis. In this trial, we tested proactive rapid genetic counseling and testing (RGCT) in newly diagnosed breast cancer patients in order to facilitate pre-surgical genetic counseling and testing. We recruited newly diagnosed breast cancer patients at increased risk for carrying a BRCA1/2 mutation. Of 379 eligible patients who completed a baseline survey, 330 agreed to randomization in a 2:1 ratio to RGCT (n = 220) versus UC (n = 108). Primary outcomes were genetic counseling and testing uptake and breast cancer surgical decisions. RGCT led to higher overall (83.8% vs. 54.6%; p genetic counseling uptake compared to UC. Despite higher rates of genetic counseling, RGCT did not differ from UC in overall (54.1% vs. 49.1%, p > 0.10) or pre-surgical (30.6% vs. 27.4%, p > 0.10) receipt of genetic test results nor did they differ in uptake of bilateral mastectomy (26.6% vs. 21.8%, p > 0.10). Although RGCT yielded increased genetic counseling participation, this did not result in increased rates of pre-surgical genetic testing or impact surgical decisions. These data suggest that those patients most likely to opt for genetic testing at the time of diagnosis are being effectively identified by their surgeons.
Breast Cancer in Men: Treatments and Genetic Counseling
... Products For Consumers Home For Consumers Consumer Updates Breast Cancer in Men: Treatments and Genetic Counseling Share Tweet ... knowledge for others with this disease,” Prowell says. Breast Cancer Symptoms for Men Each year, about 2,000 ...
[Genetic counseling in cystic fibrosis].
Julia, S; Bieth, E
2000-08-01
Genetic counseling is an important part of health care in patients with cystic fibrosis or respiratory diseases associated with the CFTR (cystic fibrosis transmembrane conductance regulator) gene, including certain types of allergic bronchopulmonary aspergilloses or bronchial diseases (diffuse bronchiectasia). The basic goal is to provide patients with information on the transmission of cystic fibrosis and to asses the risk of recurrence. This risk is determined from molecular biology analyses examining the CFTR gene. Genotyping is the only means of screening for the heterozygous state, frequent in the French population (about 1/30). Because of the large number of mutated alleles not covered entirely by the genetic tests, there remains a question of probability expressed as a residual risk of a heterozygous state. A prenatal genotype diagnosis should be proposed to heterozygous couples who have a 25% risk of having a diseased child. Technically, this is almost always possible and the results are highly reliable. Nevertheless, there remains the risks related to sample taking and the ethical issue about which the patients must be informed. Management of these at risk couples who desire a child must be based on a multidisciplinary approach, particularly important when one of the parents has overt cystic fibrosis.
Tsai, Ginger J; Cameron, Carrie A; Czerwinski, Jennifer L; Mendez-Figueroa, Hector; Peterson, Susan K; Noblin, Sarah Jane
2017-10-01
Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.
Calzone, Kathleen A; Prindiville, Sheila A; Jourkiv, Oxana; Jenkins, Jean; DeCarvalho, Maria; Wallerstedt, Dawn B; Liewehr, David J; Steinberg, Seth M; Soballe, Peter W; Lipkowitz, Stan; Klein, Pamela; Kirsch, Ilan R
2005-05-20
An efficient approach to education and counseling before BRCA1 and BRCA2 mutation testing is necessary for effective utilization of testing in the community. Education and counseling, when delivered individually, are limited by a shortage of trained health care providers as well as by financial and time constraints. The purpose of this study was to determine whether pretest education and counseling for breast cancer genetics in a group setting is equivalent to that provided on an individual basis. One hundred forty-two patients at high risk for harboring a BRCA mutation were randomly assigned to group or individual education and counseling sessions. Group education was followed by brief individual counseling. Knowledge and Impact of Events Scales (IES) were administered at baseline and after education and counseling and at 1 week and 3, 6, and 12 months. Satisfaction with education and counseling was measured at completion of the session. Preferred method of education and counseling was solicited at 3 months. There was no difference in knowledge or IES scores between groups. When stratified by genetic test results, knowledge scores showed no difference. Regardless of group, post-test IES scores in patients with positive results were higher than patients with negative or uninformative results but returned to baseline by 12 months. Participants were equally satisfied with either method they were assigned. Significantly more time was spent per patient in individual sessions (1.25 hours) than in group education (0.74 hours). Our data suggest that group education and counseling may confer similar benefits compared with traditional individual sessions. Additional investigation of this approach in larger numbers of patients is warranted.
Prevalence and detection of psychosocial problems in cancer genetic counseling
Eijzenga, W.; Bleiker, E.M.A.; Hahn, D.E.E.; van der Kolk, L.E.; Sidharta, G.N.; Aaronson, N.K.
2015-01-01
Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the prevalence of such psychosocial problems, and to
Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.
2014-01-01
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116
Genetic counseling and cascade genetic testing in Lynch syndrome.
Hampel, Heather
2016-07-01
Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.
A case report of truncus arteriosus communis and genetic counseling
Directory of Open Access Journals (Sweden)
Gholamreza Nourzad
2013-06-01
Full Text Available BACKGROUND: Truncus arteriosus communis (TAC is a rare heart disorder with the prevalence of approximately 1%, mostly in male newborns. In this disease, aorta and pulmonary artery have not been separated during fetus development and both originate jointly from left ventricle. In addition, various disorders are reported like ventricular septal defect (VSD, mitral and tricuspid valves defects, aortic septal defect (ASD, reduction of lung and lung vessels’ resistance, pulmonary hypertension, increase in heart rate, high perspiration, bad digestion, and tetralogy of Fallot. CASR REPORT: Parents of deceased patient were referred for genetic counseling after the death of third girl due to severe cardiac disorder. Cardiologist declared the disease in deceased girl as TAC based on findings along with VSD, ASD and hypoplastic aortic arch which resulted to death in the first day of birth. CONCLUSION: There was no chromosomal disorder in chromosome analysis of patient’ skin. Parents were interested to have another child, so they were referred to university's Genetic Counseling Center to become aware of their next child’s condition. This disorder is genetically heterogeneous and multifactorial and because all external factors are not recognized, the accurate estimation of risk is not possible and the probability of risk for the next child is about 10% to 20%. Keywords: Heart Disorder, Truncus Arteriosus Communis, Genetic Counseling
Email medication counseling services provided by Finnish community pharmacies.
Pohjanoksa-Mäntylä, Marika K; Kulovaara, Heidi; Bell, J Simon; Enäkoski, Marianne; Airaksinen, Marja S
2008-12-01
The importance of email as a mode of communication between medication users and pharmacists is likely to increase. However, little is known about the email medication counseling practices of community pharmacies. To determine the prevalence of email medication counseling services in Finland and to assess the accuracy and comprehensiveness of responses by pharmacies providing the opportunity for email medication counseling to inquiries related to use of antidepressants. An inventory was made of all Finnish community pharmacies that provided the opportunity for email medication counseling. Data related to the accuracy and comprehensiveness of responses were collected, using a virtual pseudo-customer method with 3 scenarios related to common concerns of patients on antidepressants. Two inquiries were emailed to each pharmacy that provided the opportunity for email medication counseling in January and February 2005. The responses were content analyzed by 2 researchers, using a prestructured scoring system. Almost one-third (30%, n = 182) of Finnish community pharmacies maintained a working Web site, and 94% of those provided the opportunity for email medication counseling. An online "ask-the-pharmacist" service was offered by 13% (n = 23) of the pharmacies with a Web site. Pharmacies responded to 54% of the email inquiries sent by the virtual pseudo-customers. The response rate and the content score ratio between mean and maximum scores varied among the scenarios. The content score ratio was highest for the scenarios concerning the adverse effects of fluoxetine (0.53, n = 55) and interactions with mirtazapine (0.52, n = 63) and lowest for the scenario related to sexual dysfunction and weight gain associated with citalopram (0.38, n = 52). Community pharmacies are potential providers of email medication counseling services. However, more attention should be directed to responding to consumer inquiries and to the content of these responses.
Omaggio, NinaMarie F; Baker, Maria J; Conway, Laura J
2018-04-01
Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG). An online 54-item survey was used to gain information on (1) how and to what extent genetic counseling students and genetic counselors connect directly with patients via social media sites, and (2) gather information on providers using PTG. Four hundred genetic counseling students and genetic counselors participated in the survey. The majority of respondents (88.9%; n = 344/387) find it is never or rarely acceptable to interact with current patients via social media sites; however, 27.7% (n = 110/397) have visited a patient's social media site. Gathering information for patient care was the most commonly reported reason (76.8%; n = 43/56). Thirty-three percent (n = 130/394) have considered searching online or actually searched online for information about a patient. Curiosity was the most common reason (92.7%; n = 114/123); although, respondents also used PTG to obtain contact information and to prepare for patient sessions. Our study supports the need for development and dissemination of professional guidelines to serve as a valuable resource for practicing genetic counselors and genetic counseling training programs.
Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?
Powell, C Bethan; Littell, Ramey; Hoodfar, Elizabeth; Sinclair, Fiona; Pressman, Alice
2013-03-01
Kaiser Permanente Northern California is a large integrated health care delivery system in the United States that has guidelines for referring women with newly diagnosed BRCA1-and BRCA2-associated cancers for genetic counseling. This study assesses adherence to genetic counseling referral guidelines within this health system. Chart review was performed to identify patients with cancer who met the following pathology-based Kaiser Permanente Northern California guidelines for referral for genetic counseling: invasive breast cancer, younger than age 40; nonmucinous epithelial ovarian, fallopian tube, or peritoneal cancer, younger than age 60; women with synchronous or metachronous primary cancers of the breast and ovaries; and male breast cancer. We assessed compliance with referral guidelines. An electronic notice was sent to the managing physician of patients with newly diagnosed cancer to assess the feasibility of this intervention. A total of 340 patients were identified with breast cancer at younger than age 40 or with ovarian, peritoneal, or tubal cancer between January and June, 2008. Upon chart review, 105 of these patients met pathology-based criteria for referral to genetic counseling, of whom 47 (45%) were referred within the 2-year study period. Of the 67 subjects with breast cancer, 40 subjects (60%) were referred. In contrast, only 7 (21%) of 33 patients with ovarian cancer were referred (P < 0.001). A pilot study was performed to test the feasibility of notifying managing oncologists with an electronic letter alerting them of eligibility for genetic referral of patients with new diagnosis (n = 21). In the 3 to 6 months after this notification, 12 of these 21 patients were referred for counseling including 5 of 7 patients with a diagnosis of ovarian cancer. There is a missed opportunity for referring patients to genetic counseling, especially among patients with ovarian cancer. A pilot study suggests that alerting treating physicians is a feasible
Level of awareness of genetic counselling in Lagos, Nigeria: its ...
African Journals Online (AJOL)
SERVER
2007-12-17
Dec 17, 2007 ... The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; .... should also be a safe and supportive environment in the ... genetic counselling where he/she had received the genetic coun- .... that is commonly recommended for pregnant women is.
Provider self-disclosure during contraceptive counseling.
McLean, Merritt; Steinauer, Jody; Schmittdiel, Julie; Chan, Pamela; Dehlendorf, Christine
2017-02-01
Provider self-disclosure (PSD) - defined as providers making statements regarding personal information to patients - has not been well characterized in the context of contraceptive counseling. In this study, we describe the incidence, content and context of contraceptive PSD. This mixed methods analysis used data from the Provider-Patient Contraceptive Counseling study, for which 349 family planning patients were recruited from 2009 to 2012 from six clinics in the San Francisco Bay Area. Audio-recordings from their visits were analyzed for the presence or absence of PSD, and those visits with evidence of PSD were analyzed using qualitative methods. The associations of patient and provider demographics and patient satisfaction measures, obtained from survey data, with PSD were analyzed using bivariable and multivariable analyses. Thirty-seven percent of providers showed evidence of PSD during at least one visit, and PSD occurred in 9% of clinic visits. Fifty-four percent of PSD statements were about intrauterine devices. About half of PSD statements occurred prior to the final selection of the contraceptive method and appeared to influence the choice of method. In post-visit surveys, all patients who reported receiving PSD considered it to be appropriate, and patient-reported PSD was not statistically associated with measures of patient satisfaction. This study provides some support for the appropriateness of PSD during family planning encounters, at least as practiced during the sampled visits. Further research could explore whether this counseling strategy has an impact on patients' ability to identify the best contraceptive methods for them. In this study, PSD did not have a demonstrated negative effect on the provider-patient relationship. In almost half of visits, PSD appeared to influence patients' choice of a method; whether this influence is beneficial needs further research. Copyright © 2017 Elsevier Inc. All rights reserved.
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women
... their family history of cancer. Depending on a woman’s family history, the doctor or nurse may then use a ... against routine genetic counseling or BRCA testing of women whose family history is not associated with an increased risk for ...
Tercyak, Kenneth P.; DeMarco, Tiffani A.; Mars, Bryn D.; Peshkin, Beth N.
2004-01-01
Women who participate in BRCA1/2 cancer genetic counseling do so for a variety of reasons, including learning quantitative risk information about their chances of developing hereditary breast-ovarian cancer at some point during their lifetimes. For these women, obtaining pre-test and disclosure genetic counseling with a professional affords them numerous potential benefits, including adequate preparation for, and accurate interpretation of, their test results. In consequence, women commonly r...
Vadaparampil, S T; Scherr, C L; Cragun, D; Malo, T L; Pal, T
2015-05-01
Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non-genetics professionals (NGPs) perform guideline-based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida (n = 386) were surveyed about clinical practices. Among 81 respondents (response rate = 22%), approximately half reported: sometimes scheduling a separate session for pre-test counseling lasting 11-30 min prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance-related issues. Few constructed a three-generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline-based practice may result in direct harm to patients and their family members. NGPs who are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at-risk patients to in person or telephone services provided by genetics professionals. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
de la Vara-Salazar, Elvia; Suárez-López, Leticia; Rivera, Leonor; Lazcano-Ponce, Eduardo
2018-06-01
Family planning (FP) counseling is an essential activity to prevent unplanned pregnancies and allow a fulfilling sex life. We defined adequate counseling in FP as the counseling given to women and men of reproductive age that provided complete information about use, application, effectiveness, side effects, and contraindications. Two objectives are proposed in this study. First, we seek to analyze geographic and institutional factors associated with FP counseling in primary and secondary healthcare facilities in Mexico. Second, we seek to identify the cultural barriers that providers perceive as a limitation of the clients so that they can come to request information related to FP and that are associated with FP counseling. This cross-sectional study uses a complex, probabilistic, stratified sampling design representative at national level by institution, region and rural-urban areas. We collected 16,829 provider questionnaires at healthcare facilities. Bivariate and logistic regression analyses were performed. Providers in rural areas had a greater possibility of offering adequate counseling (OR = 2.98; 95%CI 1.18-7.53). Providers in the northern region of the country were more likely to provide adequate counseling (OR = 5.37; 95% CI 1.91-15.12). Providers whom perceive religion as a limitation for clients to come to request information about FP are less likely to provide adequate counseling (OR = 0.37; 95% CI 0.15-0.88). Physical space exclusively for the provision of FP counseling and the availability of manuals were not associated with adequate counseling. There is a need to address the social and cultural influences on the quality of counseling in these healthcare facilities. Copyright © 2018 Elsevier B.V. All rights reserved.
Smith, Anna Jo; Oswald, Donald; Bodurtha, Joann
2015-01-01
Access to genetic counseling is increasingly important to guide families' and clinicians' decision making, yet there is limited research on accessibility and affordability of counseling for families with children with special health care needs (CSHCN). Our study's objectives were to measure changes in unmet need for genetic counseling for CSHCN from 2001 to 2010 and to characterize child, family, and health system factors associated with unmet need. We used parent-reported data from the 2001, 2005-2006, and 2009-2010 National Survey of Children With Special Health Care Needs. We used a logistic regression model to measure the impact of survey year, child (sex, age, severity of health condition), family (primary language, household income, insurance, financial problems related to cost of CSHCN's health care), and health system factors (region, genetic counselors per capita, having a usual source of care) on access to genetic counseling. Unmet need for genetic counseling increased significantly in 2009-2010 compared to 2001 (odds ratio 1.89; 95% confidence interval [CI] 1.44-2.47). Being older (adjusted odds ratio [aOR] 1.04; 95% CI 1.02-1.06), having severe health limitations (aOR 1.72; 95% CI 1.16-2.58), being uninsured (aOR 3.56; 95% CI 2.16-5.87), and having family financial problems due to health care costs (aOR 1.90; 95% CI 1.52-2.38) were significantly associated with greater unmet need for genetic counseling. Having a usual source of care was associated with decreased unmet need (aOR 0.55; 95% CI 0.37-0.83). Unmet need for genetic counseling has increased over the past 12 years. Uninsurance and financial problems related to health care costs were the largest drivers of unmet need over time. Copyright © 2015 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.
Xu, Xiao-Feng; Wang, Yan; Wang, Yan-Yan; Song, Ming; Xiao, Wen-Gang; Bai, Yun
2016-09-02
Genetic diseases represent a significant public health challenge in China that will need to be addressed by a correspondingly large number of professional genetic counselors. However, neither an official training program for genetic counseling, nor formal board certification, was available in China before 2015. In 2009, a genetic counseling training program based on role-playing was implemented as a pilot study at the Third Military Medical University to train third-year medical students. Questionnaires on participant attitudes to the program and role-playing were randomly administered to 324 students after they had finished their training. Pre- and post-training instructional tests, focusing on 42 key components of genetic counseling, were administered randomly to 200 participants to assess mastery of each component. Finally, scores in final examinations of 578 participants from 2009 to 2011 were compared to scores obtained by 614 non-participating students from 2006 to 2008 to further assess program efficacy. Both the training program and the instructional strategy of role-playing were accepted by most participants. Students believed that role-playing improved their practice of genetic counseling and medical genetics, enhanced their communication skills, and would likely contribute to future professional performance. The average understanding of 40 of the key points in genetic counseling was significantly improved, and most students approached excellent levels of mastery. Scores in final examinations and the percentages of students scoring above 90 were also significantly elevated. Role-playing is a feasible and effective instructional strategy for training genetic counselors in China as well as in other developing countries.
Changing profile of couples seeking genetic counseling for consanguinity in Australia.
Port, Katrina E; Mountain, Helen; Nelson, John; Bittles, Alan H
2005-01-15
Consanguineous marriage is rare in most Western countries and, for example, in the USA it may be subject to regulation by both civil legislation and religious prescription. This is not the case in many regions of Asia and Africa where marriage within the family is strongly favored. Since the 1970s there has been widespread migration to North America, Western Europe, and Australasia from communities which encourage consanguineous marriage. To assess the effect of this trend on a genetic counseling program, the records of 302 couples referred to Genetic Services of Western Australia for consanguinity counseling were abstracted for the period 1975-2001. Overall, a family history of genetic disease or a previously affected child was reported in 28.8% of cases. Premarital or prepregnancy counseling on grounds of consanguinity was sought by 41.0% of couples, and a further 18.2% of consanguineous couples had been referred because of a consanguineous pregnancy. In 7.6% of cases a relationship closer than first cousin was involved. Through time there was a significant increase in the numbers of consanguineous consultants, and their patterns of religious affiliation and ethnic origin widened markedly. Although effectively excluded from entry to Australia prior to 1975, couples of Asian origin accounted for 25.5% of all consanguineous consultants. With ongoing migration, changes in the ethnic profiles and the specific counseling requirements of consanguineous couples can be expected to continue and probably accelerate.
Prenatal genetic counseling in cross-cultural medicine: A framework for family physicians.
Bhogal, Ashvinder K; Brunger, Fern
2010-10-01
To help family physicians practise effective genetic counseling and offer practical strategies for cross-cultural communication in the context of prenatal genetic counseling. PubMed and the Cochrane Database of Systematic Reviews were searched. Most evidence was level II and some was level III. The values and beliefs of practitioners, no less than those of patients, are shaped by culture. In promoting a patient's best interest, the assumptions of both the patient and the provider must be held up for examination and discussed in the attempt to arrive at a consensus. Through the explicit discussion and formation of trust, the health professionals, patients, and family members who are involved can develop a shared understanding of appropriate therapeutic goals and methods. Reflecting on the cultural nature of biomedicine's ideas about risk, disability, and normality helps us to realize that there are many valid interpretations of what is in a patient's best interest. Self-reflection helps to ensure that respectful communication with the specific family and patient is the basis for health care decisions. Overall, this helps to improve the quality of care.
Watson, M; Lloyd, S; Davidson, J; Meyer, L; Eeles, R; Ebbs, S; Murday, V
1999-02-01
The present study investigated: (1) perception of genetic risk and, (2) the psychological effects of genetic counselling in women with a family history of breast cancer. Using a prospective design, with assessment pre- and post-genetic counselling at clinics and by postal follow-up at 1, 6 and 12 months, attenders at four South London genetic clinics were assessed. Participants included 282 women with a family history of breast cancer. Outcome was measured in terms of mental health, cancer-specific distress and risk perception. High levels of cancer-specific distress were found pre-genetic counselling, with 28% of participants reporting that they worried about breast cancer 'frequently or constantly' and 18% that worry about breast cancer was 'a severe or definite problem'. Following genetic counselling, levels of cancer-specific distress were unchanged. General mental health remained unchanged over time (33% psychiatric cases detected pre-genetic counselling, 27% at 12 months after genetic counselling). Prior to their genetics consultation, participants showed poor knowledge of their lifetime risk of breast cancer since there was no association between their perceived lifetime risk (when they were asked to express this as a 1 in x odds ratio) and their actual risk, when the latter was calculated by the geneticist at the clinic using the CASH model. In contrast, women were more accurate about their risk of breast cancer pre-genetic counselling when this was assessed in broad categorical terms (i.e. very much lower/very much higher than the average woman) with a significant association between this rating and the subsequently calculated CASH risk figure (P = 0.001). Genetic counselling produced a modest shift in the accuracy of perceived lifetime risk, expressed as an odds ratio, which was maintained at 12 months' follow-up. A significant minority failed to benefit from genetic counselling; 77 women continued to over-estimate their risk and maintain high levels of
Benusiglio, Patrick R; Di Maria, Marina; Dorling, Leila; Jouinot, Anne; Poli, Antoine; Villebasse, Sophie; Le Mentec, Marine; Claret, Béatrice; Boinon, Diane; Caron, Olivier
2017-01-01
The increase in referrals to cancer genetics clinics, partially associated with the "Angelina Jolie effect", presents a challenge to existing services, many are already running at full capacity. More efficient ways to deliver genetic counselling are therefore urgently needed. We now systematically offer group instead of standard individual counselling to patients with suspected Hereditary Breast and Ovarian Cancer. Group sessions last 30 min. The first twenty consist of a presentation by the genetic counsellor, the next ten of a discussion involving a cancer geneticist and a psychologist. A short individual consultation ensues, where personal and family issues are addressed and consent obtained. Blood is drawn afterwards. Satisfaction and knowledge are evaluated. We report data for the Oct-2014-Aug-2015 period. 210 patients attended group counselling, up to eight simultaneously. We always fitted them within a 4-h time frame. Mean satisfaction score was 41/43. Knowledge scores increased from 3.1/6 to 4.9/6 post-counselling (p value group counselling, we have withstood increases in referrals without compromising care. The "Angelina Jolie effect" and rapid developments in personalized medicine threaten to overwhelm cancer genetics clinics. In this context, our innovative approach should ensure that all patients have access to approved services.
[Genetic counseling and instruction of marriage for deaf young people: study of 115 cases].
Han, Bing; Dai, Pu; Wang, Guo-Jian; Yuan, Yong-Yi; Li, Qi; Zhang, Xin; Kang, Dong-Yang; Han, Dong-Yi
2009-03-17
To invesigate the molecular pathogenesis of deafness among the youth by means of genetic testing so as to provide pre-marriage genetic counseling and instruction for the deaf youth. 217 deaf young people, 126 males and 91 females, aged 18.9 (16 - 26), from Yunnan and Guizhou provinces, underwent history taking, auditory testing, and collection of peripheral blood samples. Genomic DNA and mitochondrial DNA were extracted to undergo sequence analysis of the entire gene GJB2, common point mutation of SLC26A4 gene, and mutation of mtDNA A1555G. Genetic prediction and marriage instruction were provided to each subject based on these results. Twenty-three of the 117 persons (10.5%), 13 males and 10 females, were mtDNA A1555G mutation carriers and they were instructed that they, their maternal relatives, and the offspring of the female carriers, should they be born, should strictly avoid the administration of amino glycoside antibiotics. Twenty eight of the 115 persons (12.9%), were confirmed to carry homozygous or compound GJB2 mutations, 5 individuals (2.3%) carried heterozygous GJB2 mutation, 19 (8.8%) carried homozygous or compound SLC26A4 mutations, and one (0.5%) carried heterozygous SLC26A4 mutation. The suggestion for them was to avoid getting married with deaf partners caused by the same deaf gene or with individuals carrying mutations in the same deaf gene. Meanwhile, suggestions such as avoiding aggressive exercises and head injury were provided to the deaf young people with SLC26A4 mutations. Genetic testing can provide more accurate and useful genetic counseling and instruction to deaf young people for their partner selection and eugenics.
Baars, J E; van Dulmen, A M; Velthuizen, M E; Theunissen, E B M; Vrouenraets, B C; Kimmings, A N; van Dalen, T; van Ooijen, B; Witkamp, A J; van der Aa, M A; Ausems, M G E M
Certain ethnic groups seem to have less access to cancer genetic counseling. Our study was to investigate the participation in cancer genetic counseling among migrant breast cancer patients of Turkish and Moroccan origin. Hospital medical records of Turkish and Moroccan and of a comparative group of
Baars, J.E.; Dulmen, A.M. van; Velthuizen, M.E.; Theunissen, E.B.M.; Vrouenraets, B.C.; Kimmings, A.N.; Dalen, T. van; Ooijen, B. van; Witkamp, A.J.; Aa, M.A. van der; Ausems, M.G.E.M.
2016-01-01
Certain ethnic groups seem to have less access to cancer genetic counseling. Our study was to investigate the participation in cancer genetic counseling among migrant breast cancer patients of Turkish and Moroccan origin. Hospital medical records of Turkish and Moroccan and of a comparative group of
Baars, J.E.; Dulmen, A.M. van; Velthuizen, M.E.; Theunissen, E.B.; Vrouenraets, B.C.; Kimmings, A.N.; Dalen, T. van; Ooijen, B. van; Witkamp, A.J.; Aa, M.A. van der; Ausems, M.G.
2016-01-01
Certain ethnic groups seem to have less access to cancer genetic counseling. Our study was to investigate the participation in cancer genetic counseling among migrant breast cancer patients of Turkish and Moroccan origin. Hospital medical records of Turkish and Moroccan and of a comparative group of
Forman, Andrea D; Hall, Michael J
2009-01-01
Risk assessment coupled with genetic counseling and testing for the cancer predisposition genes BRCA1 and BRCA2 (BRCA1/2) has become an integral element of comprehensive patient evaluation and cancer risk management in the United States for individuals meeting high-risk criteria for hereditary breast and ovarian cancer (HBOC). For mutation carriers, several options for risk modification have achieved substantial reductions in future cancer risk. However, several recent studies have shown lower rates of BRCA1/2 counseling and testing among minority populations. Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. Barriers to genetic services related to race/ethnicity and underserved populations, including socioeconomic barriers (e.g., time, access, geographic, language/cultural, awareness, cost) and psychosocial barriers (e.g., medical mistrust, perceived disadvantages to genetic services), as well as additional barriers to care once mutation carriers are identified, will be reviewed.
Baars, J E; van Dulmen, A M; Velthuizen, M E; van Riel, E; Ausems, M G E M
2017-04-01
Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 Dutch breast cancer patients from Turkish and Moroccan descent. The interviews were held in Arabic, Berber, Turkish, or Dutch by bilingual research assistants. Additionally, 14 breast cancer patients participated in one of two focus group meetings, and two focus groups were held with 11 healthcare professionals. SPSS and QSR Nvivo were used to examine the quantitative and qualitative data, respectively. Half of the total group of patients (N = 78) and 79% of patients eligible for genetic counseling and testing (N = 33) were aware of the possibility of genetic counseling. The most important determinants for nonparticipation in genetic counseling were experienced difficulties in patient-doctor communication, cultural factors (e.g., social norms), limited health literacy, limited knowledge of the family cancer history, and anxiety about cancer. Religious beliefs and knowing personal and family members' breast cancer risks were motives to obtain genetic counseling. Despite the fact that our study showed that Moroccan and Turkish women reported several personal motives to obtain genetic counseling and testing (GCT), patients and healthcare professionals experience significant language and health literacy difficulties, which make it harder to fully access health care such as genetic counseling and testing.
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Beth Anderson
2012-01-01
Full Text Available Introduction. Women diagnosed with breast cancer at a young age are more likely to carry a cancer predisposing genetic mutation. Per the current NCCN recommendations, women diagnosed under age 50 should be referred to cancer genetic counseling for further risk evaluation. This study seeks to assess patient-reported barriers and facilitators to receiving genetic counseling and risk assessment among a community-based population of young breast cancer survivors (YBCS. Methods. Through the Michigan Cancer Surveillance Program, a state-based cancer registry, 488 women diagnosed with breast cancer before age 50 in 2006-2007 were identified. They received a mail survey regarding family history and facilitators and barriers to receiving genetic counseling and risk assessment. Results. Responses were received from 289 women (59.2%. One hundred twenty-two (42.2% reported having received cancer genetic counseling. The most frequent reason identified for receiving services was to benefit their family's future. The top reasons for not attending were “no one recommended it” and “medical insurance coverage issues.” Discussion. This study is the first published report using a state cancer registry to determine facilitators and barriers to receiving genetic counseling and risk assessment among YBCS. These findings demonstrate the need for additional awareness and education about appropriate indications for genetic services.
International Nuclear Information System (INIS)
Anderson, B.; McLosky, J.; Wasilevich, E.; Callo, S. L.; Duquette, D.; Copeland, G.
2012-01-01
Introduction. Women diagnosed with breast cancer at a young age are more likely to carry a cancer predisposing genetic mutation. Per the current NCCN recommendations, women diagnosed under age 50 should be referred to cancer genetic counseling for further risk evaluation. This study seeks to assess patient-reported barriers and facilitators to receiving genetic counseling and risk assessment among a community-based population of young breast cancer survivors (YBCS). Methods. Through the Michigan Cancer Surveillance Program, a state-based cancer registry, 488 women diagnosed with breast cancer before age 50 in 2006-2007 were identified. They received a mail survey regarding family history and facilitators and barriers to receiving genetic counseling and risk assessment. Results. Responses were received from 289 women (59.2%). One hundred twenty-two (42.2%) reported having received cancer genetic counseling. The most frequent reason identified for receiving services was to benefit their family's future. The top reasons for not attending were “no one recommended it” and “medical insurance coverage issues.” Discussion. This study is the first published report using a state cancer registry to determine facilitators and barriers to receiving genetic counseling and risk assessment among YBCS. These findings demonstrate the need for additional awareness and education about appropriate indications for genetic services.
HIV testing and counseling: test providers' experiences of best practices.
Myers, Ted; Worthington, Catherine; Haubrich, Dennis J; Ryder, Karen; Calzavara, Liviana
2003-08-01
Although education is central to HIV testing and counseling, little is known about the educational processes within the testing experience. This study investigated test providers' understandings of testing and counseling best practices. Interviews with a purposive sample of 24 test providers were thematically analyzed. Analysis revealed five best practices specific to HIV education and public health--ensuring information and education for HIV risk reduction, individualization of risk assessment, ensuring test results are given in person, providing information and referrals, and facilitating partner notification--and six practices not specific to HIV counseling relationship building. The latter were building trust and rapport; maintaining professional boundaries; ensuring a comfortable, safe environment; ensuring confidentiality; imparting nonjudgmntal attitude; and self-determination. The identified best practices demonstrated remarkable consistency across respondent subgroups. Although counseling was seen as largely educational and with a preventive focus, it included individualized messages based on assessments of risk, knowledge, and social and cultural characteristics.
Genetic counseling and the disabled: feminism examines the stance of those who stand at the gate.
Patterson, Annette; Satz, Martha
2002-01-01
This essay examines the possible systematic bias against the disabled in the structure and practice of genetic counseling. Finding that the profession's "nondirective" imperative remains problematic, the authors recommend that methodology developed by feminist standpoint epistemology be used to incorporate the perspective of disabled individuals in genetic counselors' education and practice, thereby reforming society's view of the disabled and preventing possible negative effects of genetic counseling on the self-concept and material circumstance of disabled individuals.
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Langen, Irene M.
In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics reports so far evaluated online oncogenetic counselling at remote health centres in regions with large
Autism spectrum disorders: an updated guide for genetic counseling.
Griesi-Oliveira, Karina; Sertié, Andréa Laurato
2017-01-01
Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has hampered the identification of the etiological factors in each patient and, consequently, the genetic counseling for families at risk. However, in the last decades, the remarkable advances in the knowledge of genetic aspects of autism based on genetic and molecular research, as well as the development of new molecular diagnostic tools, have substantially changed this scenario. Nowadays, it is estimated that using the currently available molecular tests, a potential underlying genetic cause can be identified in nearly 25% of cases. Combined with clinical assessment, prenatal history evaluation and investigation of other physiological aspects, an etiological explanation for the disease can be found for approximately 30 to 40% of patients. Therefore, in view of the current knowledge about the genetic architecture of autism spectrum disorder, which has contributed for a more precise genetic counseling, and of the potential benefits that an etiological investigation can bring to patients and families, molecular genetic investigation has become increasingly important. Here, we discuss the current view of the genetic architecture of autism spectrum disorder, and list the main associated genetic alterations, the available molecular tests and the key aspects for the genetic counseling of these families. RESUMO O transtorno do espectro autista é um distúrbio complexo e geneticamente heterogêneo, o que sempre dificultou a identificação de sua etiologia em cada paciente em particular e, por consequência, o aconselhamento genético das famílias. Porém, nas últimas décadas, o acúmulo crescente de conhecimento oriundo das pesquisas sobre os aspectos genéticos e moleculares desta doença, assim como o desenvolvimento de novas ferramentas de diagnóstico molecular, tem mudado este cenário de forma substancial. Atualmente, estima-se que, por meio de testes moleculares, é poss
[Genetic counseling and testing for families with Alzheimer's disease].
Kowalska, Anna
2004-01-01
With the identification of the genes responsible for autosomal dominant early-onset familial Alzheimer's disease (FAD genes), there is a considerable interest in the application of this genetic information in medical practice through genetic testing and counseling. Pathogenic mutations in the PSEN1 and PSEN2 genes encoding presenilin-1 and -2, and the APP gene encoding amyloid b precursor protein, account for 18-50% of familial EOAD cases with autosomal dominant pattern of inheritance. A clinical algorithm of genetic testing and counseling proposed for families with AD has been presented here. A screening for mutations in the APP, PSEN1, and PSEN2 genes is available to individuals with AD symptoms and at-risk children or siblings of patients with early-onset disease determined by a known mutation. In an early-onset family, a known mutation in an affected patient puts the siblings and children at a 50% risk of inheriting the same mutation. The goal of genetic testing is to identify at-risk individuals in order to facilitate early and effective treatments in the symptomatic person based on an individual's genotype and strategies to delay the onset of disease in the presymptomatic mutation carriers. However, there are several arguments against the use of genetic testing both presymptomatically (unpredictable psychological consequences of information about a genetic defect for family members) and as a diagnostic tool for the differential diagnosis of dementia in general practice (a risk of errors in an interpretation of mutation penetrance and its secondary effects on family members, especially for novel mutations; the possibility of coexistence of another form of dementia at the presence of a mutation). Currently, APOE genotyping for presymptomatic individuals with a family history of late-onset disease is not recommended. The APOE4 allele may only confer greater risk for disease, but its presence is not conclusive for the development of AD.
Baars, J.E.; Dulmen, S. van; Veldhuizen, M.E. van; Riel, E. van; Ausems, M.G.E.M.
2017-01-01
Abstract Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients’ participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 ...
Directory of Open Access Journals (Sweden)
Nan Xiang
2014-01-01
Full Text Available Objective. To examine the proportion of health care providers who counsel adolescent patients on sports and energy drink (SED consumption and the association with provider characteristics. Methods. This is a cross-sectional analysis of a survey of providers who see patients ≤17 years old. The proportion providing regular counseling on sports drinks (SDs, energy drinks (EDs, or both was assessed. Chi-square analyses examined differences in counseling based on provider characteristics. Multivariate logistic regression calculated adjusted odds ratios (aOR for characteristics independently associated with SED counseling. Results. Overall, 34% of health care providers regularly counseled on both SEDs, with 41% regularly counseling on SDs and 55% regularly counseling on EDs. On adjusted modeling regular SED counseling was associated with the female sex (aOR: 1.44 [95% CI: 1.07–1.93], high fruit/vegetable intake (aOR: 2.05 [95% CI: 1.54–2.73], family/general practitioners (aOR: 0.58 [95% CI: 0.41–0.82] and internists (aOR: 0.37 [95% CI: 0.20–0.70] versus pediatricians, and group versus individual practices (aOR: 0.59 [95% CI: 0.42–0.84]. Modeling for SD- and ED-specific counseling found similar associations with provider characteristics. Conclusion. The prevalence of regular SED counseling is low overall and varies. Provider education on the significance of SED counseling and consumption is important.
Cragun, Deborah; Zierhut, Heather
2018-02-01
Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework. The final product, "Framework for Outcomes of Clinical commUnication Services" (FOCUS) contains the following domains: communication strategy; communication process measures; patient care experience, patient changes, patient health; and family changes. A website was created to allow easier access and ongoing modifications to the framework. In addition, a step-by-step guide and two examples were created to show flexibility in how the framework can be used. FOCUS may help in conceptualizing, organizing and summarizing outcomes research related to risk communication and counseling in genetic service delivery as well as other healthcare settings.
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.
Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E
2018-02-01
PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.
Goldberg, Dena
Understanding awareness and perceptions of genetic counseling (GC) is important in identifying and overcoming potential barriers to GC services. However, there are relatively few empirical data regarding these factors among US-based populations. To address this, we attended various community events for the general public, disability community, and new parents and recruited participants for a survey-based study comprising demographic questions, closed-ended knowledge-based and awareness questions, and open text sections. We applied descriptive statistics to responses about demographics, awareness of GC, purposes of GC, and perceptions of GC practice. In total, 320 individuals participated, including 69 from the general public, 209 from the disability community, and 42 from the new parent community. Slightly more than half of respondents (n =173, 54%) had heard of GC. Risk assessment and counseling were among the most frequently cited activities attributed to genetic counselors; a few felt that GC was related to eugenics. Respondents thought that GC aims to prevent genetic disorders (n=82, 74%), helps people find their ethnic origins and understand their ancestry (n=176, 55%), advises people whether to have children (n=140, 44%), and helps couples have children with desirable characteristics (n=126, 39%). Our data showed the majority of participants preferred to watch a medical thriller involving genetic counseling, followed by documentary series; comedy was rated the lowest. These data revealed gaps in awareness of GC and misperceptions about its purpose and can be useful in devising targeted interventions by developing entertainment-based education to improve public knowledge of genetic health and the roles of GCs.
Albada, A.; Dulmen, S. van; Lindhout, D.; Bensing, J.M.; Ausems, M.G.E.M.
2012-01-01
Counselees who are the first in their family to request breast cancer genetic counselling often don't know what to expect or have unrealistic expectations of genetic counselling. Receiving tailored information might help them to prepare for their first visit. We conducted a study of the effects of a
Training Pediatric Residents to Provide Smoking Cessation Counseling to Parents
Directory of Open Access Journals (Sweden)
Rebecca L. Collins
2005-01-01
Full Text Available The objective was to assess the effectiveness of a smoking cessation educational program on pediatric residents' counseling. Residents were randomly selected to receive the intervention. Residents who were trained were compared to untrained residents. Self-reported surveys and patient chart reviews were used. Measures included changes in self-reported knowledge, attitudes and behaviors of residents, and differences in chart documentation and caretaker-reported physician counseling behaviors. The intervention was multidimensional including a didactic presentation, a problem-solving session, clinic reminders, and provision of patient education materials. Results showed that residents who were trained were more likely to ask about tobacco use in their patients' households. They were also more likely to advise caretakers to cut down on or to quit smoking, to help set a quit date, and to follow up on the advice given at a subsequent visit. Trained residents were more likely to record a history of passive tobacco exposure in the medical record. These residents also reported improved confidence in their counseling skills and documented that they had done such counseling more often than did untrained residents. Caretakers of pediatric patients who smoke seen by intervention residents were more likely to report that they had received tobacco counseling. Following this intervention, pediatric residents significantly improved their behaviors, attitudes, and confidence in providing smoking cessation counseling to parents of their pediatric patients.
Xiang, Nan; Wethington, Holly; Onufrak, Stephen; Belay, Brook
2014-01-01
Objective. To examine the proportion of health care providers who counsel adolescent patients on sports and energy drink (SED) consumption and the association with provider characteristics. Methods. This is a cross-sectional analysis of a survey of providers who see patients ≤17 years old. The proportion providing regular counseling on sports drinks (SDs), energy drinks (EDs), or both was assessed. Chi-square analyses examined differences in counseling based on provider characteristics. Multi...
Baars, J E; van Dulmen, A M; Velthuizen, M E; van Riel, E; Ausems, M G E M
2017-01-01
Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients' participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare
Baars, J.E.; Dulmen, S. van; Veldhuizen, M.E. van; Riel, E. van; Ausems, M.G.E.M.
2017-01-01
Abstract Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients’ participation in breast cancer genetic counseling and DNA testing, from the point of view of
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Tintelen, J. Peter; van Langen, Irene M.
2015-01-01
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Tintelen, J. Peter; van Langen, Irene M.
2015-01-01
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas
Interpretation in reproductive genetic counseling: a methodological framework.
Tóth, Adél; Szeverényi, Péter
2007-09-01
In case of genetic risk, parents are often faced with reproductive decisions affecting their life essentially, so it is advisable to pursue careful deliberation. For this reason, the genetic counselor is expected to help the counselee make well-informed and well-considered decisions, which requires the understanding of the patient as an individual. To reach emphatic understanding, physicians can use the results of the Gadamerian theory of interpretation that contains the idea -- as it has been summarized by V. Arnason -- that four aspects of openness are necessary to fully understand the other, such as openness to oneself, to the other, to the subject matter and to tradition. In our paper, we are applying the four-openness model of interpretation to genetic consultation, and we argue that during counseling double interpretation takes place: the physician interprets the patient, and the patient interprets the physician. Double interpretation leads to the clarification of those factors which influence the patient's decision-making: the counselor's attitude and prejudices, the counselee's values and needs, the medical, social, and moral implications of the genetic disease, and the social expectations. By adopting the theory of interpretation, counselors can also advance the provision of emotional support patients need in hard situations.
Cicero, G; De Luca, R; Dorangricchia, P; Lo Coco, G; Guarnaccia, C; Fanale, D; Calò, V; Russo, A
2017-10-01
Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular distress, anxiety and depression. Participants completed the following tools during a psychological interview: a socio-demographic form, Cancer Risk Perception (CRP) and Genetic Risk Perception (GRP), Hospital Anxiety and Depression Scale (HADS) and Distress Thermometer (DT). The data seem to confirm our hypothesis. Positive and significant correlations were found between the observed variables. Moreover, genetic risk perception determined an increase in depressive symptomatology and cancer risk perception led to an increase in anxious symptomatology, specifically in participants during cancer treatment. The present results suggest the importance of assessing genetic and cancer risk perception in individuals who undergo CGO, to identify those who are at risk of a decrease in psychological well-being and of developing greater psychological distress.
Dijkstra, H.; Albada, A.; Klöckner Cronauer, C.; Ausems, M.G.E.M.; Dulmen, S. van
2013-01-01
Objective: The current study aimed to examine how counselors’ nonverbal communication (i.e. nonverbal encouragements and counselee-directed eye gaze) and conversational contribution (i.e. verbal dominance and interactivity) during the final visit within breast cancer genetic counseling relate to
Cuturilo, Goran; Vucinic, Olivera Kontic; Novakovic, Ivana; Ignjatovic, Svetlana; Mijovic, Marija; Sulovic, Nenad; Vukolic, Dusan; Komnenic, Milica; Tadic, Jasmina; Cetkovic, Aleksandar; Belic, Aleksandra; Ljubic, Aleksandar
2016-02-01
This is the first study in Serbia and the region of South-East Europe dedicated to clients' perception of outcome and efficiency of prenatal and reproductive genetic counseling. The primary aim of this study was to assess overall value and success of genetic counseling in prenatal and reproductive care with regard to perceived personal control of clients, reflecting also in a part patient comprehension, knowledge retention, and empowerment in decision-making. The standardized Perceived Personal Control questionnaire (PPC) was used for the assessment of 239 female participants. First, we performed a complete validation of the psychometric characteristics of the Serbian-language version of the PPC questionnaire. The validation of the questionnaire permits other researchers from Serbian-speaking regions of South-East Europe to use this standard instrument to assess the effectiveness of prenatal genetic counseling in their communities and analyze advantages and disadvantages of their counseling models. We also measured social and demographic characteristics of participants. Further, we analyzed effects of our team-based prenatal and reproductive genetic counseling model through (a) calculation of PPC scores at three different stages (before initial, after initial, and before second counseling session), and (b) by assessing participants' responses by indication for referral (advanced maternal age, abnormal biochemical screening, family history of hereditary disorders, maternal exposure to drugs, exposure to radiation, exposure to infective agents, infertility or recurrent abortions, and miscellaneous). The results indicate that participants' knowledge after initial counseling increased significantly and after that remained stable and sustainable. A satisfactory level of confidence among participants had been achieved, in that many felt an increased sense of control over their situation and emotional response to it. Indirectly, these results indicate the success of a
Genetic counseling of the cancer survivor
International Nuclear Information System (INIS)
Mulvihill, J.J.; Byrne, J.
1989-01-01
Each year, tens of thousands of persons are diagnosed with cancer, are treated, and become survivors while still in their reproductive years. Their concerns about possible germ-cell damage as a result of life-saving radiation, chemotherapy, or both are plausible, based on evidence from animal models and from somatic cell mutations in human beings. A 40-year follow-up of survivors of the atomic bomb blasts in Japan showed no detectable genetic damage and suggested that the human gonad is more resistant to radiogenic mutation than the laboratory mouse. The pooled results of studying 12 series of offspring of cancer patients showed a 4% rate of major birth defects (similar to that of the general population) and an excess of fetal loss and low birth weight in offspring of women who received abdominal radiotherapy. According to preliminary evaluation of a new National Cancer Institute collaboration with five cancer registries, offspring of survivors of childhood cancers had no more birth defects than expected and, beyond an increase in probably familial cancers in children younger than 5, no overall increase in childhood cancer. Ideally, genetic and reproductive counseling should take place as soon as cancer is diagnosed (before therapy starts) and again when pregnancy is contemplated. 28 references
Zhong, Adrina; Darren, Benedict; Dimaras, Helen
2017-07-11
There has been little focus in the literature on how to build genetic testing and counseling services in low- and middle-income countries in a responsible, ethical, and culturally appropriate manner. It is unclear to what extent this area is being explored and what form further research should take. The proposed knowledge synthesis aims to fill this gap in knowledge and mine the existing data to determine the breadth of work in this area and identify ethical, social, and cultural issues that have emerged. An integrated knowledge translation approach will be undertaken by engaging knowledge users throughout the review to ensure relevance to their practice. Electronic databases encompassing various disciplines, such as healthcare, social sciences, and public health, will be searched. Studies that address clinical genetic testing and/or counseling and ethical, social, and/or cultural issues of these genetic services, and are performed in low- and middle-income countries as defined by World Bank will be considered for inclusion. Two independent reviewers will be involved in a two-stage literature screening process, data extraction, and quality appraisal. Studies included in the review will be analyzed by thematic analysis. A narrative synthesis guided by the social ecological model will be used to summarize findings. This systematic review will provide a foundation of evidence regarding ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries. Using the social ecological model as a conceptual framework will facilitate the understanding of broader influences of the sociocultural context on an individual's experience with clinical genetic testing and counseling, thereby informing interdisciplinary sectors in future recommendations for practice and policy. PROSPERO CRD42016042894.
Kessels, Koen; Eisinger, Joey D; Letteboer, Tom G; Offerhaus, G Johan A; Siersema, Peter D; Moons, Leon M G
2017-06-01
To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling. A questionnaire was mailed to patients before they underwent outpatient colonoscopy at a university hospital in 2013. These patients' additional characteristics and referral for genetic evaluation were retrieved from the electronic medical records. Patients undergoing inpatient coloboscopy, with confirmed hereditary colorectal cancer (CRC) or inflammatory bowel disease were excluded. All study patients from 2010 to 2013 were matched with the database of the genetics department to determine who consulted a geneticist. A total of 6163 patients underwent colonoscopy from 2010 to 2013. Of 1421 who underwent colonoscopy in 2013, 53 (3.7%) consulted a geneticist, while 75 (1.6%) of 4742 patients undergoing colonoscopy between 2010 and 2012 did so (P history was not recorded in the electronic medical records of 393 (40.3%). In 129 (32.8%), family history was obtained from the completed questionnaire. In 2013, 49 (60.5%) out of 81 patients referred for genetic counseling were referred based on their family history. Eight (9.9%) patients were referred based on the completed questionnaire. Screening for hereditary CRC in a population undergoing outpatient colonoscopy with a questionnaire sent by mail resulted in an increased availability of family histories and genetic counseling. © 2017 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.
Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo, M L; Lopez, G; Gelvez, N; Medina, D; Kimberling, W J; Rodríguez, V; Tamayo, G E; Bernal, J E
2008-01-01
Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are three recognized clinical types of the disorder. In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA sequencing in 10 Colombian families with confirmed diagnosis of US (4 type I and 6 type II). Seventy-five percent of the US1 families showed linkage to locus USH1B, while the remaining 25% showed linkage to loci USH1B and USH1C. Among families showing linkage to USH1B we found two different mutations in the MYO7A gene: IVS42-26insTTGAG in exon 43 (heterozygous state) and R634X (CGA-TGA) in exon 16 (homozygous state). All six US2 families showed linkage to locus USH2A. Of them, 4 had c.2299delG mutation (1 homozygote state and 3 heterozygous); in the remaining 2 we did not identify any pathologic DNA variant. USH2A individuals with a 2299delG mutation presented a typical and homogeneous retinal phenotype with bilateral severe hearing loss, except for one individual with a heterozygous 2299delG mutation, whose hearing loss was asymmetric, but more profound than in the other cases. The study of these families adds to the genotype-phenotype characterization of the different types and subtypes of US and facilitates genetic counseling in these families. We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families.
Hereditary breast/ovarian cancer--pitfalls in genetic counseling.
Dagan, E; Gershoni-Baruch, R
2001-10-01
Genetic counseling and risk assessment, given to women with a family history of breast/ovarian cancer, are regularly based on pedigree analysis. In the Ashkenazi Jewish population, hereditary breast/ovarian cancer is mainly attributed to three founder mutations, namely, 185delAG, 5382insC, and 6174delT, in BRCA1/2 genes. The overall frequency of these mutations, in the Jewish Ashkenazi population, is as high as 2.5%. Based on clinical and family history data, the results of BRCA molecular testing, in Ashkenazi individuals at risk, are appropriately anticipated in most cases. Here we report on five families, in which the segregation of BRCA1/2 mutations, in affected and unaffected family members, was unexpected, emphasizing the need to test, for founder mutations, every Ashkenazi individual at risk, irrespective of the genotype of affected family members. Ultimately, risk assessments and recommendations, in Ashkenazi women, should be invariably based on the results of genetic testing.
Jungbluth, Chelsy; Macfarlane, Ian M; Veach, Patricia McCarthy; Leroy, Bonnie S
2011-06-01
Stress is an inevitable part of daily life. Studies of graduate student stress exist, but none include genetic counseling students. The present mixed-methods study investigated 225 genetic counseling students' stress and anxiety levels using the State-Trait Anxiety Inventory (STAI; Spielberger et al. 1983), frequency and intensity of stressors associated with their graduate experience, positive and challenging aspects of their experience, and their stress management advice for prospective students. Principal axis factor analysis yielded five conceptual factors underlying the stressors: Professional Uncertainty, Personal Life Events, Interpersonal Demands, Academic Demands, and Isolating Circumstances. Exploratory model fitting using regression yielded four significant predictors accounting for 19% of the variance in state anxiety: (1) trait anxiety, (2) the Interpersonal Demands factor, (3) the Isolating Circumstances factor, and (4) the interaction between the Professional Uncertainty factor and advanced student status. Content analysis of open-ended responses identified several themes. For instance, most students enjoyed what they were learning, interactions with colleagues, and affirmation of their career choice, while certain academic and professional challenges were particularly stressful (e.g., workload, time constraints, clinical rotations). Additional findings, program implications, and research recommendations are provided.
Directory of Open Access Journals (Sweden)
Mitra Moodi
2016-09-01
Full Text Available Background and Aim: Regarding the ever-increasing of genetic diseases, counseling for the prevention of these diseases has got overwhelming necessity. Thus, promoting individuals’ awareness of. genetic counseling is required. The current study aimed at determining the effect of an educational program based on Health Belief Model on knowledge, beliefs, and self-efficacy of urbanized women in need of genetic counseling. Materials and Methods: In this randomized field trial study, 80 married women in need of genetic counseling were divided into two equal case and control groups. Data collection means were a researcher-designed questionnaire consisting of demographic data and health belief model queries, which were completed by interview. Educational intervention was done during three 90 minute sessions with one week interval between each one. Finally, the obtained data was fed into SPSS (version 16 applying the statistical tests of Chi-square, repeated ANOVA, independent t-test, Mann-Whitney and Friedman for analysis; and P0.05, but the difference became significant immediately and three months after intervention (P<0.001. There was a significant difference between the knowledge, threat, perceived benefits, barriers and self-efficacy in the two groups three week intervals before and immediately after intervention, before and after the three months, immediately and after three months in the experimental group (P<0.001, but the difference was not significant in the control group. Conclusion: The results showed that educational interventions based on HBM increases women's knowledge, beliefs, and self-efficacy regarding the role of genetic counseling in the prevention of congenital malformations.
Rives, Nathalie
2014-05-01
Infertility affects 15% of couples at reproductive age and human male infertility appears frequently idiopathic. The main genetic causes of spermatogenesis defect responsible for non-obstructive azoospermia and severe oligozoospermia are constitutional chromosomal abnormalities and microdeletions in the azoospermia factor region of the Y chromosome. The improvement of the Yq microdeletion screening method gave new insights in the mechanism responsible for the genesis of Yq microdeletions and for the consequences of the management of male infertility and genetic counselling in case of assisted reproductive technology. Copyright © 2014 Elsevier Masson SAS. All rights reserved.
Paul, Mandira; Näsström, Sara B; Klingberg-Allvin, Marie; Kiggundu, Charles; Larsson, Elin C
2016-01-01
Pregnancies among young women force girls to compromise education, resulting in low educational attainment with subsequent poverty and vulnerability. A pronounced focus is needed on contraceptive use, pregnancy, and unsafe abortion among young women. This study aims to explore healthcare providers' (HCPs) perceptions and practices regarding contraceptive counselling to young people. We conducted 27 in-depth interviews with doctors and midwives working in seven health facilities in central Uganda. Interviews were open-ended and allowed the participant to speak freely on certain topics. We used a topic guide to cover areas topics of interest focusing on post-abortion care (PAC) but also covering contraceptive counselling. Transcripts were transcribed verbatim and data were analysed using thematic analysis. The main theme, HCPs' ambivalence to providing contraceptive counselling to sexually active young people is based on two sub-themes describing the challenges of contraceptive counselling: A) HCPs echo the societal norms regarding sexual practice among young people, while at the same time our findings B) highlights the opportunities resulting from providers pragmatic approach to contraceptive counselling to young women. Providers expressed a self-identified lack of skill, limited resources, and inadequate support from the health system to successfully provide appropriate services to young people. They felt frustrated with the consultations, especially when meeting young women seeking PAC. Despite existing policies for young people's sexual and reproductive health in Uganda, HCPs are not sufficiently equipped to provide adequate contraceptive counselling to young people. Instead, HCPs are left in between the negative influence of social norms and their pragmatic approach to address the needs of young people, especially those seeking PAC. We argue that a clear policy supported by a clear strategy with practical guidelines should be implemented alongside in
Nouri, Narges; Nouri, Nayereh; Tirgar, Samane; Soleimani, Elham; Yazdani, Vida; Zahedi, Farzaneh; Larijani, Bagher
2017-01-01
Consanguineous marriage, which is common in many regions in the world, has absorbed much attention as a causative factor in raising the incidence of genetic diseases. The adverse effects may be attributed to the expression of the genes received from common ancestors and mortality and morbidity of the offspring. Iran has a high rate of consanguineous marriages. In recent years genetic counseling has come to be considered in health care services. This cross-sectional study was conducted in order to determine the prevalence and types of consanguineous marriages in the genetic clinics in Isfahan. We aimed to define the different types of marriages, specific categories of genetic disorders associated with consanguineous marriages, and mode of inheritance in the family tree. We also narratively reviewed the ethical aspects of the issue. The data were collected using a simple questionnaire. A total number of 1535 couples from urban and rural areas formed the study population. The marriages were classified according to the degree of the relationship between couples, including: double cousin, first cousin, first cousin once removed, second cousin and beyond second cousin. The SPSS software version 16 was used for data analysis. Data obtained through genetic counseling offered during a 5-year period revealed that 74.3% had consanguineous relationships, 62.3% were first cousins, 1% were double cousins and 7.8% were second cousins. In addition, 76% of the couples had at least one genetic disease in their family tree. Related ethical issues were also considered in this study, including autonomy and informed decision making, benefit and harm assessment, confidentiality, ethics in research, justice in access to counseling services, financial problems ethics, and the intellectual property of scientific success.
Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A
2013-04-01
In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.
Cancer Genetics Services Directory
... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...
Bachmann, H
1987-11-01
Genetic counselling for inherited neurological diseases has been established at the Clinic for Neurology of Karl Marx University. Comprehensive experiences have been got with the specific and sometimes markedly different problems and aims of counselling in Wilsons disease, X-linked recessive muscular dystrophies, myotonic dystrophy and other neuromuscular disorders, Huntingtons chorea and hereditary ataxias.
Seven, Memnun; Eroglu, Kafiye; Akyüz, Aygül; Ingvoldstad, Charlotta
2017-09-01
The latest advances in genetics/genomics have significantly impacted prenatal screening and diagnostic tests. This cross-sectional descriptive study was conducted in inpatient and outpatient obstetric clinics in 24 hospitals in Turkey to determine knowledge of genetics related to prenatal care and the educational needs of perinatal nurses. A total of 116 nurses working in these clinics agreed to participate. The results included the level of knowledge among nurses was not affected by sociodemographic factors. Also, there is a lack of knowledge and interest in genetics among prenatal nurses and in clinical practice to provide education and counseling related to genetics in prenatal settings as a part of prenatal care. © 2017 John Wiley & Sons Australia, Ltd.
Ackerman, Marra G; Shapiro, Peter A; Coe, Austin; Trivedi, Meghna S; Crew, Katherine D
2017-09-01
We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review. The mean age at breast cancer diagnosis was 56 years, with 44% non-Hispanic whites, 37% Hispanics, and 15% non-Hispanic blacks. Ninety-nine (32%) women met study criteria for MHD, 73% had a genetics referral, 57% had genetic counseling, and 54% completed BRCA testing. Uptake of genetic counseling services did not differ by race/ethnicity or presence of MHD. In multivariable analysis, younger age at diagnosis, Ashkenazi Jewish heritage, and family history of breast cancer were associated with HBOC genetic counseling. A relatively high proportion of breast cancer patients eligible for HBOC genetic testing were referred to a genetic counselor and referral status did not vary by MHD or race/ethnicity. © 2017 Wiley Periodicals, Inc.
Wevers, M.R.
2018-01-01
Genetic counseling and testing for breast cancer have traditionally been offered to eligible patients after completion of their primary treatment. Women with hereditary breast cancer, caused by a germline mutation in the BRCA1 or BRCA2 gene, have an increased risk of contralateral breast cancer and
Current attitudes and practices of obesity counselling by health care providers.
Petrin, Christine; Kahan, Scott; Turner, Monique; Gallagher, Christine; Dietz, William H
Relatively few patients receive obesity counselling consistent with the USPSTF guidelines, and many health care professionals (HCPs) are biased in their attitudes towards obesity management. A national sample of family physicians, internists, OB/GYN physicians, and nurse practitioners (NPs) completed a web-based survey of beliefs, practice, and knowledge regarding obesity management. A majority of HCPs believe that it is both the patient's and the provider's responsibility to ensure that the patient is counselled about obesity. Obesity (77%), obesity-related diseases (79%), or obesity-related risk factors (71%) prompt HCPs to offer obesity counselling; 59% of HCPs wait for the patient to broach the subject of their weight. Increased blood pressure (89%) and heart disease risks (90%) are the most common themes in counselling. Across all HCPs except NPs "exercise" is discussed more frequently than "physical activity" (85% vs 81%), "diet" more frequently than "eating habits" (77% vs 75%), and "obesity" more frequently than "unhealthy weight" (60% vs 45%). NPs are more likely to discuss physical activity, eating habits, and unhealthy weight instead. To improve counselling for obesity, HCPs reported needing more time (70%), training in obesity management (53%), improved reimbursement (53%), and better tools to help patients recognise obesity risks (50%). Obesity-related diseases, risk factors, or obesity alone predict obesity counselling amongst HCPs. Better training in weight management and tools to help patients recognise risks appear to be key elements in helping patients compare the risks of what they may consider invasive therapy against the risks of continued obesity. Copyright © 2016 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.
The value of CT in genetic counseling in tuberous sclerosis
International Nuclear Information System (INIS)
Scotti, L.N.; Bartoletti, S.C.
1980-01-01
The families of two patients with known tuberous sclerosis were electively evaluated by computed tomography. The CT positive (and negative) examination proved to be valuable for the genetic counseling of family members without overt clinical manifestations of tuberous sclerosis. Two patients had evidence of smaller enhancing lesions (minimal demonstrable mass without hydrocephalus) following intravenous contrast enhancement. We, therefore, suggest the use of contrast enhanced scans in addition to the plain scans to identify what may represent occult neoplasms. Abdominal CT scans can prove useful in identifying the frequently associated renal hamartomas. (orig.) [de
Tucker, Joan S; Stucky, Brian D; Edelen, Maria Orlando; Shadel, William G; Klein, David J
2018-05-21
The U.S. Public Health Service Clinical Practice Guideline on treating tobacco use and dependence recommends providing advice to quit to every tobacco user seen in a healthcare setting. However, the mechanism through which counseling encourages patients to quit has not been adequately studied. This study tests whether the association between receiving healthcare provider counseling and desire to quit is accounted for by negative health and psychosocial outcome expectancies of smoking. Data were collected online from 721 adult smokers who had seen a healthcare provider in the past 12 months. Associations between counseling to quit, negative outcome expectancies of smoking, and desire to quit were tested, as well as whether outcome expectancies and desire to quit differed by type of counseling (counseling only vs. counseling plus assistance) and level of smoking. Bivariate associations indicated a stronger desire to quit among patients receiving counseling, particularly when it included healthcare provider assistance to quit. SEM results indicated that the association between counseling and desire to quit was fully accounted for by patients' negative health and psychosocial outcome expectancies for smoking. These associations were found across levels of smoking in the case of health expectancies, but were limited to moderate and heavy smokers in the case of psychosocial expectancies. Results suggest that the time devoted to counseling patients about smoking should include providing some assistance to quit, such as recommending a product, prescription or program. Regardless of smoking level, this counseling should incorporate techniques to elicit patients' negative health and psychosocial expectancies of smoking. Copyright © 2018. Published by Elsevier Ltd.
Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine
... of this page please turn Javascript on. Feature: Genetics 101 Using the Genetics Home Reference Website Past Issues / Summer 2013 Table ... as the GHR website keeps growing. What Is Genetic Counseling? Genetic counseling provides information and support to ...
Pieterse, Arwen; van Dulmen, Sandra; Ausems, Margreet; Schoemaker, Angela; Beemer, Frits; Bensing, Jozien
2005-05-01
Counselees' motives for seeking genetic counseling for hereditary cancer have already been investigated, however not using instruments based on counselees' perspective. In addition, expectations regarding the process of counseling have scarcely been assessed. This article describes the construction and psychometric properties of the QUOTE-gene(ca), a counselee-centered instrument intended to measure needs and preferences in genetic counseling for hereditary cancer. Formulation of the items involved input from counselees and the instrument was derived from a conceptual framework for measuring patient satisfaction. Two-hundred new counselees completed a questionnaire containing the instrument and measures of coping style (TMSI), generalized anxiety (STAI) and cancer-related stress reactions (IES), prior to their first consultation. Results showed that the instrument captures relevant issues of concern with high internal consistency, and was associated, as expected, with validated measures of coping style and distress. Responses showed that major concerns prior to counseling relate to: receiving information about risk and preventive strategies; the procedure of counseling; and preferences on how the interaction with the counselor proceeds. Receiving emotional support and discussing emotional aspects were considered relatively less important. Increasing insight into individual needs may help counselors in better addressing these concerns, potentially increasing the likelihood of successful counseling. Copyright (c) 2004 John Wiley & Sons, Ltd.
Christiaans, Imke; van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.
2009-01-01
Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be
Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.
Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T
2016-02-01
The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH's clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, "marriageability," the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population.
Ethics of genetic counseling--basic concepts and relevance to Islamic communities.
El-Hazmi, Mohsen A F
2004-01-01
Scientific advances and technical developments in the field of laboratory diagnosis and their practical applications have raised ethical issues linked to religion, beliefs, lifestyle and traditions prevailing in different communities. Some of these are pertinent to genetic screening at various stages of life, prenatal diagnosis and the right of the genetically affected fetus to live--all aspects relevant to inbreeding marriages. Of relevance are medical and ethical principles based on professional responsibility. These ideological and social aspects encounter the challenges of science and its applications in the health field, which are linked, directly or indirectly, to scientific achievements and applications related to human genetics. Analysis of the human genome and identification of its sequence, and chemical components, and theories arising from connection of human genome components in health and disease conditions, have led to global requirements to outline legal aspects and ethical principles in relation to diagnosis, prevention and health care. This paper presents basic aspects of disseminating genetic information, guiding the individual, the couple, or the concerned family through genetically induced ill health and methods of control and prevention. The paper discusses the elements and manner and presents details of the application of genetic counseling in Islamic communities in light of scientific, religious, social and legal aspects in the Islamic arena.
Aconselhamento genético Genetic counseling
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João Monteiro de Pina-Neto
2008-08-01
Full Text Available OBJETIVO: Esta revisão sobre aconselhamento genético (AG teve o objetivo de mostrar os conceitos atuais e os princípios filosóficos e éticos aceitos na grande maioria dos países e recomendados pela Organização Mundial da Saúde, as fases do processo, seus resultados e o impacto psicológico de uma doença genética em uma família. FONTES DOS DADOS: Os conceitos apresentados são baseados em uma síntese histórica da literatura sobre AG desde a década de 1930 até o momento atual, sendo que os artigos citados representam os principais trabalhos publicados e que hoje fundamentam a teoria e a prática do AG. SÍNTESE DOS DADOS: O AG modernamente é definido como um processo de comunicação que trata dos problemas humanos relacionados à ocorrência de uma doença genética em uma família. É fundamental que os profissionais da saúde conheçam os aspectos psicológicos desencadeados pela doença genética e como estes aspectos podem ser manejados. Vivemos ainda na genética humana e médica uma fase de predomínio dos aspectos técnicos e científicos e de pouca ênfase no estudo das reações emocionais e dos processos de adaptação das pessoas a estas doenças, o que leva ao baixo entendimento dos clientes sobre os fatos ocorridos, com conseqüências negativas sobre a vida familiar e para a sociedade. CONCLUSÕES: Conclui-se pela necessidade de que as famílias com doenças genéticas sejam encaminhadas para AG e que os profissionais desta área invistam mais na humanização do atendimento, desenvolvendo mais as técnicas do AG psicológico não-diretivo.OBJECTIVE: The objective of this review of genetic counseling (GC is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES: The concepts presented are
Burton-Chase, Allison M.; Hovick, Shelly R.; Peterson, Susan K.; Marani, Salma K.; Vernon, Sally W.; Amos, Christopher I.; Frazier, Marsha L.; Lynch, Patrick M.; Gritz, Ellen R.
2013-01-01
Purpose This study examined colonoscopy adherence and attitudes towards colorectal cancer (CRC) screening in individuals who underwent Lynch syndrome genetic counseling and testing. Methods We evaluated changes in colonoscopy adherence and CRC screening attitudes in 78 cancer-unaffected relatives of Lynch syndrome mutation carriers before pre-test genetic counseling (baseline) and at 6 and 12 months post-disclosure of test results (52 mutation-negative, 26 mutation-positive). Results While both groups were similar at baseline, at 12 months post-disclosure, a greater number of mutation-positive individuals had had a colonoscopy compared with mutation-negative individuals. From baseline to 12 months post-disclosure, the mutation-positive group demonstrated an increase in mean scores on measures of colonoscopy commitment, self-efficacy, and perceived benefits of CRC screening, and a decrease in mean scores for perceived barriers to CRC screening. Mean scores on colonoscopy commitment decreased from baseline to 6 months in the mutation-negative group. Conclusion Adherence to risk-appropriate guidelines for CRC surveillance improved after genetic counseling and testing for Lynch syndrome. Mutation-positive individuals reported increasingly positive attitudes toward CRC screening after receiving genetic test results, potentially reinforcing longer term colonoscopy adherence. PMID:23414081
Pasick, Rena J; Joseph, Galen; Stewart, Susan; Kaplan, Celia; Lee, Robin; Luce, Judith; Davis, Sharon; Marquez, Titas; Nguyen, Tung; Guerra, Claudia
2016-10-01
To determine the effectiveness of a statewide telephone service in identifying low-income women at risk for hereditary breast and ovarian cancer and referring them to free genetic counseling. From June 2010 through August 2011, eligible callers to California's toll-free breast and cervical cancer telephone service were screened for their family histories of breast and ovarian cancer. High-risk women were identified and called for a baseline survey and randomization to an immediate offer of genetic counseling or a mailed brochure on how to obtain counseling. Clinic records were used to assess receipt of genetic counseling after 2 months. Among 1212 eligible callers, 709 (58.5%) agreed to answer family history questions; 102 (14%) were at high risk (25% Hispanic, 46% White, 10% Black, 16% Asian, 3% of other racial/ethnic backgrounds). Of the high-risk women offered an immediate appointment, 39% received counseling during the intervention period, as compared with 4.5% of those receiving the brochure. A public health approach to the rare but serious risk of hereditary breast and ovarian cancer can be successful when integrated into the efforts of existing safety net organizations.
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Cvelbar Mirjam
2017-05-01
Full Text Available In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years.
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Mandira Paul
2016-05-01
Full Text Available Background: Pregnancies among young women force girls to compromise education, resulting in low educational attainment with subsequent poverty and vulnerability. A pronounced focus is needed on contraceptive use, pregnancy, and unsafe abortion among young women. Objective: This study aims to explore healthcare providers’ (HCPs perceptions and practices regarding contraceptive counselling to young people. Design: We conducted 27 in-depth interviews with doctors and midwives working in seven health facilities in central Uganda. Interviews were open-ended and allowed the participant to speak freely on certain topics. We used a topic guide to cover areas topics of interest focusing on post-abortion care (PAC but also covering contraceptive counselling. Transcripts were transcribed verbatim and data were analysed using thematic analysis. Results: The main theme, HCPs' ambivalence to providing contraceptive counselling to sexually active young people is based on two sub-themes describing the challenges of contraceptive counselling: A HCPs echo the societal norms regarding sexual practice among young people, while at the same time our findings B highlights the opportunities resulting from providers pragmatic approach to contraceptive counselling to young women. Providers expressed a self-identified lack of skill, limited resources, and inadequate support from the health system to successfully provide appropriate services to young people. They felt frustrated with the consultations, especially when meeting young women seeking PAC. Conclusions: Despite existing policies for young people's sexual and reproductive health in Uganda, HCPs are not sufficiently equipped to provide adequate contraceptive counselling to young people. Instead, HCPs are left in between the negative influence of social norms and their pragmatic approach to address the needs of young people, especially those seeking PAC. We argue that a clear policy supported by a clear strategy
McRee, Annie-Laurie; Mays, Darren; Kornides, Melanie L; Gilkey, Melissa B
2017-10-01
Adolescence is a high-risk period for ultraviolet radiation exposure, a primary cause of skin cancer later in life. We sought to characterize receipt of health care provider-delivered counseling about skin cancer prevention (SCP) among parents of adolescents. In 2016, we conducted an online survey with a national sample of parents of adolescents aged 11-17 years (n = 1,253). Multivariable logistic regression assessed correlates of receiving counseling from a health care provider about any of the six skin cancer prevention (SCP) topics. Only half (49%) of parents recalled discussing any SCP topic with their child's provider; the prevalence was highest for sunscreen (39%) and lowest for indoor tanning (3%). Parents had greater odds of receiving counseling if they had a child with more sun-reactive skin (odds ratio [OR] = 1.53); a family history of skin cancer (OR = 1.38); or a higher quality relationship with the provider (OR = 1.47; all p attention to SCP counseling is needed, especially for exposures such as indoor tanning that remain prevalent among adolescents but are rarely addressed in clinical encounters. Copyright © 2017 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.
Siglen, Elen; Bjorvatn, Cathrine; Engebretsen, Lars Fredrik; Berglund, Gunilla; Natvig, Gerd Karin
2007-10-01
This study examines the association between Sense of Coherence and anxiety and depression amongst patients at risk of hereditary cancer receiving genetic counseling. When writing this article, 144 patients referred for genetic counseling due to a suspicion of hereditary cancer in the family were recruited for this multicentered longitudinal study on the psychosocial aspects of genetic counseling in Norway. A total of 96 (66%) patients responded to the follow-up survey distributed 6 months after genetic counseling. This survey included the Sense of Coherence-29 Scale, Impact of Event Scale, and Hospital Anxiety and Depression Scale. Multiple regression analyses were applied. Our results show association between cancer-related distress and symptoms of anxiety and depression. Sense of Coherence is significantly associated with both anxiety and depression. The hypothesis of Sense of Coherence buffering cancer-related distress and the possible impact of these findings for genetic counseling are discussed.
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Murtomaa Heikki
2011-05-01
Full Text Available Abstract Background Tobacco use adversely affects oral health. Clinical guidelines recommend that dental providers promote tobacco abstinence and provide patients who use tobacco with brief tobacco use cessation counselling. Research shows that these guidelines are seldom implemented, however. To improve guideline adherence and to develop effective interventions, it is essential to understand provider behaviour and challenges to implementation. This study aimed to develop a theoretically informed measure for assessing among dental providers implementation difficulties related to tobacco use prevention and cessation (TUPAC counselling guidelines, to evaluate those difficulties among a sample of dental providers, and to investigate a possible underlying structure of applied theoretical domains. Methods A 35-item questionnaire was developed based on key theoretical domains relevant to the implementation behaviours of healthcare providers. Specific items were drawn mostly from the literature on TUPAC counselling studies of healthcare providers. The data were collected from dentists (n = 73 and dental hygienists (n = 22 in 36 dental clinics in Finland using a web-based survey. Of 95 providers, 73 participated (76.8%. We used Cronbach's alpha to ascertain the internal consistency of the questionnaire. Mean domain scores were calculated to assess different aspects of implementation difficulties and exploratory factor analysis to assess the theoretical domain structure. The authors agreed on the labels assigned to the factors on the basis of their component domains and the broader behavioural and theoretical literature. Results Internal consistency values for theoretical domains varied from 0.50 ('emotion' to 0.71 ('environmental context and resources'. The domain environmental context and resources had the lowest mean score (21.3%; 95% confidence interval [CI], 17.2 to 25.4 and was identified as a potential implementation difficulty. The domain emotion
Amemori, Masamitsu; Michie, Susan; Korhonen, Tellervo; Murtomaa, Heikki; Kinnunen, Taru H
2011-05-26
Tobacco use adversely affects oral health. Clinical guidelines recommend that dental providers promote tobacco abstinence and provide patients who use tobacco with brief tobacco use cessation counselling. Research shows that these guidelines are seldom implemented, however. To improve guideline adherence and to develop effective interventions, it is essential to understand provider behaviour and challenges to implementation. This study aimed to develop a theoretically informed measure for assessing among dental providers implementation difficulties related to tobacco use prevention and cessation (TUPAC) counselling guidelines, to evaluate those difficulties among a sample of dental providers, and to investigate a possible underlying structure of applied theoretical domains. A 35-item questionnaire was developed based on key theoretical domains relevant to the implementation behaviours of healthcare providers. Specific items were drawn mostly from the literature on TUPAC counselling studies of healthcare providers. The data were collected from dentists (n = 73) and dental hygienists (n = 22) in 36 dental clinics in Finland using a web-based survey. Of 95 providers, 73 participated (76.8%). We used Cronbach's alpha to ascertain the internal consistency of the questionnaire. Mean domain scores were calculated to assess different aspects of implementation difficulties and exploratory factor analysis to assess the theoretical domain structure. The authors agreed on the labels assigned to the factors on the basis of their component domains and the broader behavioural and theoretical literature. Internal consistency values for theoretical domains varied from 0.50 ('emotion') to 0.71 ('environmental context and resources'). The domain environmental context and resources had the lowest mean score (21.3%; 95% confidence interval [CI], 17.2 to 25.4) and was identified as a potential implementation difficulty. The domain emotion provided the highest mean score (60%; 95% CI, 55
Batra, Peter; Aquilino, Mary L; Farris, Karen B
2015-01-01
To evaluate pharmacy staff perspectives of a 2-year pharmacy intervention aimed at reducing unintended pregnancy in 18- to 30-year-old women. Pharmacy staff completed a 48-item, self-administered paper survey consisting of scaled and open-ended questions. 55 community pharmacies in 12 Iowa counties. All pharmacy staff participated, including pharmacists, pharmacy technicians, and other pharmacy employees. Online continuing education (CE) training was made available to all pharmacy staff. Promotional materials including posters, brochures, and shelf talkers were displayed in all of the pharmacies. Pharmacy staff perceptions and self-reported behaviors related to displaying posters, brochures, and shelf talkers in their pharmacies and providing contraceptive information and counseling to patients/customers. A total of 192 (43% return rate) pharmacy staff responded. Only 44% of respondents consistently provided contraceptive information and counseling, yet more than 90% felt that talking with patients/customers about contraceptives was easy, and more than 50% could do so privately. The study showed increased pharmacy staff desire to make this topic a priority. Community pharmacy staff can play a key role in educating and counseling young adult women about contraceptive health and pregnancy planning. This study indicates that staff are comfortable providing this service and that patients/customers are open to receiving guidance from pharmacists. However, pharmacy staff are missing additional opportunities to provide information and counseling. There is also a need for greater attention to provision of nonprescription contraceptive education.
Genetic counseling follow-up - a retrospective study with a quantitative approach
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De Pina-Neto João M.
1999-01-01
Full Text Available The impact of genetic counseling (GC was evaluated in families, who were interviewed at least two and half years and at most seven years after GC at the Genetics Service of the University Hospital, Faculty of Medicine of Ribeirão Preto, University of São Paulo (HC, FMRP, USP. The 113 families interviewed in this study were asked 48 questions and all children born after GC were studied clinically. We evaluated the families for spontaneous motivation for GC and understanding of GC information, their reproductive decisions, changes in the family after GC and the health status of new children. The majority of families seen at the Hospital das Clínicas de Ribeirão Preto were not spontaneously motivated to undergo GC. They had a low level of understanding about the information they received during GC. Generally families were using contraceptive methods (even when at low genetic risk with a consequent low rate of pregnancies and children born after GC. These families also had a very low rate of child adoption and divorces when compared to other studies.
Nouri, Narges; Nouri, Nayereh; Tirgar, Samane; Soleimani, Elham; Yazdani, Vida; Zahedi, Farzaneh; Larijani, Bagher
2017-01-01
Consanguineous marriage, which is common in many regions in the world, has absorbed much attention as a causative factor in raising the incidence of genetic diseases. The adverse effects may be attributed to the expression of the genes received from common ancestors and mortality and morbidity of the offspring. Iran has a high rate of consanguineous marriages. In recent years genetic counseling has come to be considered in health care services. This cross-sectional study was conducted in orde...
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families
Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu
2018-01-01
Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496
Catania, Chiara; Feroce, Irene; Barile, Monica; Goldhirsch, Aron; De Pas, Tommaso; de Braud, Filippo; Boselli, Sabrina; Adamoli, Laura; Radice, Davide; Rossi, Alessandra; Spitaleri, Gianluca; Noberasco, Cristina; Bonanni, Bernardo
2016-03-01
Subjects referred to genetic counselling for cancer may have heightened perceptions of illness and death, even though they are healthy and this may cause anxiety and reluctance to follow through with consultation. We investigated such perceptions before and after counselling and genetic testing for cancer in a cohort of Italian women. We sought to understand the situation of the women referred by designing questionnaires administered to women at high risk of breast and/or ovarian cancer (those who had had a pathogenic mutation identified in a family member via diagnostic testing). We also assessed women after the diagnosis of breast cancers, but free of disease, to help determine risks in their families. The first questionnaires were administered before initial counselling, and the second were completed within 20 days after the counselling. When a genetic test was proposed, the individual was asked to fill in a third questionnaire; the final questionnaire was administered after the person had received the results of the genetic test. We evaluated 204 subjects. Before counselling, 89 % of the subjects were worried about their risk of disease, 52 % felt "different" because of their personal and family history, and 39 % declared that their life choices were influenced by their fear of cancer. After counselling, 82 % of the subjects felt more relived about their pre-existing fears and stated that this process of being seen in a clinic with genetic expertise had clarified the meaning of disease risk for them, and for 50 %, this experience had positively influenced their life choices. Thirty percentage of the subjects had a positive test; all of them felt safer in being cared for by specifically trained staff. Fifty percentage had a less informative test (e.g. "wild-type" gene found); 84 % of them were not worried by the uncertainty, and overall, 96 % considered counselling to be very useful. Candidates for genetic counselling frequently had heightened their perception
Grant, Richard W; Meigs, James B; Florez, Jose C; Park, Elyse R; Green, Robert C; Waxler, Jessica L; Delahanty, Linda M; O'Brien, Kelsey E
2011-10-01
The efficacy of diabetes genetic risk testing to motivate behavior change for diabetes prevention is currently unknown. This paper presents key issues in the design and implementation of one of the first randomized trials (The Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention) to test whether knowledge of diabetes genetic risk can motivate patients to adopt healthier behaviors. Because individuals may react differently to receiving 'higher' vs 'lower' genetic risk results, we designed a 3-arm parallel group study to separately test the hypotheses that: (1) patients receiving 'higher' diabetes genetic risk results will increase healthy behaviors compared to untested controls, and (2) patients receiving 'lower' diabetes genetic risk results will decrease healthy behaviors compared to untested controls. In this paper we describe several challenges to implementing this study, including: (1) the application of a novel diabetes risk score derived from genetic epidemiology studies to a clinical population, (2) the use of the principle of Mendelian randomization to efficiently exclude 'average' diabetes genetic risk patients from the intervention, and (3) the development of a diabetes genetic risk counseling intervention that maintained the ethical need to motivate behavior change in both 'higher' and 'lower' diabetes genetic risk result recipients. Diabetes genetic risk scores were developed by aggregating the results of 36 diabetes-associated single nucleotide polymorphisms. Relative risk for type 2 diabetes was calculated using Framingham Offspring Study outcomes, grouped by quartiles into 'higher', 'average' (middle two quartiles) and 'lower' genetic risk. From these relative risks, revised absolute risks were estimated using the overall absolute risk for the study group. For study efficiency, we excluded all patients receiving 'average' diabetes risk results from the subsequent intervention. This post-randomization allocation strategy was
Holland, Cynthia L; Nkumsah, Michelle Abena; Morrison, Penelope; Tarr, Jill A; Rubio, Doris; Rodriguez, Keri L; Kraemer, Kevin L; Day, Nancy; Arnold, Robert M; Chang, Judy C
2016-09-01
To describe obstetric provider attitudes, beliefs, approaches, concerns, and needs about addressing perinatal marijuana use with their pregnant patients. We conducted individual semi-structured interviews with obstetric providers and asked them to describe their thoughts and experiences about addressing perinatal marijuana use. Interviews were transcribed verbatim, coded and reviewed to identify themes. Fifty-one providers participated in semi-structured interviews. Providers admitted they were not familiar with identified risks of marijuana use during pregnancy, they perceived marijuana was not as dangerous as other illicit drugs, and they believed patients did not view marijuana as a drug. Most provider counseling strategies focused on marijuana's status as an illegal drug and the risk of child protective services being contacted if patients tested positive at time of delivery. When counseling about perinatal marijuana use, obstetric providers focus more on legal issues than on health risks. They describe needing more information regarding medical consequences of marijuana use during pregnancy. Provider training should include information about potential consequences of perinatal marijuana use and address ways to improve obstetric providers' counseling. Future studies should assess changes in providers' attitudes as more states consider the legalization of marijuana. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.
Murphy, Erin L; Droher, Madeline L; DiMaio, Miriam S; Dahl, Neera K
2018-03-30
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD). Affected individuals have a 50% chance of passing the mutation to each of their offspring. Assisted reproductive technology using preimplantation genetic diagnosis (PGD) allows these individuals to reduce this risk to 1% to 2%. We assess the disease burden of 8 individuals with ADPKD who have undergone genetic testing in preparation for PGD. Clinical features that predict high risk for progression to ESRD in patients with ADPKD include genotype, early onset of hypertension, a urologic event before age 35 years, and a large height-adjusted total kidney volume. Patients may have a family history of intracranial aneurysms or complications involving hepatic cysts, which may further influence the decision to pursue PGD. We also explore the cost, risks, and benefits of using PGD. All patients with ADPKD of childbearing potential, regardless of risk for progression to ESRD or risk for a significant disease burden, will likely benefit from genetic counseling. Copyright © 2018 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.
Subjective versus objective risk in genetic counseling for hereditary breast and/or ovarian cancers
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Sperduti Isabella
2009-12-01
Full Text Available Abstract Background Despite the fact that genetic counseling in oncology provides information regarding objective risks, it can be found a contrast between the subjective and objective risk. The aims of this study were to evaluate the accuracy of the perceived risk compared to the objective risk estimated by the BRCApro computer model and to evaluate any associations between medical, demographic and psychological variables and the accuracy of risk perception. Methods 130 subjects were given medical-demographic file, Cancer and Genetic Risk Perception, Hospital Anxiety-Depression Scale. It was also computed an objective evaluation of the risk by the BRCApro model. Results The subjective risk was significantly higher than objective risk. The risk of tumour was overestimated by 56%, and the genetic risk by 67%. The subjects with less cancer affected relatives significantly overestimated their risk of being mutation carriers and made a more innacurate estimation than high risk subjects. Conclusion The description of this sample shows: general overestimation of the risk, inaccurate perception compared to BRCApro calculation and a more accurate estimation in those subjects with more cancer affected relatives (high risk subjects. No correlation was found between the levels of perception of risk and anxiety and depression. Based on our findings, it is worth pursuing improved communication strategies about the actual cancer and genetic risk, especially for subjects at "intermediate and slightly increased risk" of developing an hereditary breast and/or ovarian cancer or of being mutation carrier.
Provider-initiated HIV counselling and testing (PICT) in the mentally ill
African Journals Online (AJOL)
This paper discusses provider-initiated HIV counselling and testing (PICT) and some of the ethical dilemmas associated with it, on the basis that PICT may be used to increase the number of mentally ill persons tested for HIV. The authors conclude that PICT should be promoted to all psychiatric admissions and mentally ill ...
Pope, Diana S; Deluca, Andrea N; Kali, Paula; Hausler, Harry; Sheard, Carol; Hoosain, Ebrahim; Chaudhary, Mohammad A; Celentano, David D; Chaisson, Richard E
2008-06-01
To determine whether implementation of provider-initiated human immunodeficiency virus (HIV) counseling would increase the proportion of tuberculosis (TB) patients who received HIV counseling and testing. Cluster-randomized trial with clinic as the unit of randomization. Twenty, medium-sized primary care TB clinics in the Nelson Mandela Metropolitan Municipality, Port Elizabeth, Eastern Cape Province, South Africa. A total of 754 adults (18 years and older) newly registered as TB patients in the 20 study clinics. Implementation of provider-initiated HIV counseling and testing. Percentage of TB patients HIV counseled and tested. SECONDARY: Percentage of patients with HIV test positive, and percentage of those who received cotrimoxazole and who were referred for HIV care. : A total of 754 adults newly registered as TB patients were enrolled. In clinics randomly assigned to implement provider-initiated HIV counseling and testing, 20.7% (73/352) patients were counseled versus 7.7% (31/402) in the control clinics (P = 0.011), and 20.2% (n = 71) versus 6.5% (n = 26) underwent HIV testing (P = 0.009). Of those patients counseled, 97% in the intervention clinics accepted testing versus 79% in control clinics (P = 0.12). The proportion of patients identified as HIV infected in intervention clinics was 8.5% versus 2.5% in control clinics (P = 0.044). Fewer than 40% of patients with a positive HIV test were prescribed cotrimoxazole or referred for HIV care in either study arm. Provider-initiated HIV counseling significantly increased the proportion of adult TB patients who received HIV counseling and testing, but the magnitude of the effect was small. Additional interventions to optimize HIV testing for TB patients urgently need to be evaluated.
Dagan, Efrat; Gershoni-Baruch, Ruth; Kurolap, Alina; Goldberg, Yael; Fried, Georgeta
2014-07-01
This article presents the complexity of prenatal genetic diagnosis and preimplantation genetic diagnosis for hereditary breast-ovarian cancer syndrome. These issues are discussed using a case report to highlight the genetic counseling process, together with decision-making considerations, in light of the clinical, psychological, and ethical perspectives, of both the mutation carriers and health professionals; and the health policy regarding these procedures in Israel compared to several European countries.
A case of diprosopus: perinatal counseling and management.
Thornton, Kimberly M; Bennett, Timothy; Singh, Vivekanand; Mardis, Neil; Linebarger, Jennifer; Kilbride, Howard; Voos, Kristin
2014-01-01
Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.
A Case of Diprosopus: Perinatal Counseling and Management
Thornton, Kimberly M.; Bennett, Timothy; Singh, Vivekanand; Mardis, Neil; Linebarger, Jennifer; Kilbride, Howard; Voos, Kristin
2014-01-01
Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.
Eijzenga, Willem; Aaronson, Neil K; Hahn, Daniela E E; Sidharta, Grace N; van der Kolk, Lizet E; Velthuizen, Mary E; Ausems, Margreet G E M; Bleiker, Eveline M A
2014-09-20
This study evaluated the efficacy of a cancer genetics–specific questionnaire in facilitating communication about, awareness of, and management of psychosocial problems, as well as in lowering distress levels. Individuals referred to genetic counseling for cancer at two family cancer clinics in The Netherlands were randomly assigned to an intervention or a control group. All participants completed the psychosocial questionnaire before counseling. In the intervention group, the counselors received the results of this questionnaire before the counseling session. All sessions were audiotaped for content analysis. Primary outcomes were the frequency with which psychosocial problems were discussed, the genetic counselors’ awareness of these problems, and their management. Secondary outcomes included cancer worries and psychological distress, duration and dynamics of the counseling, and satisfaction. The frequency with which psychosocial problems were discussed with 246 participating counselees was significantly higher in the intervention group (n = 127) than in the control group (n =119; P = .004), as was the counselors’ awareness of psychosocial problems regarding hereditary predisposition (P cancer (P = .01), and general emotions (P cancer worries (p = .005) and distress (p = .02) after counseling. The routine assessment of psychosocial problems by questionnaire facilitates genetic counselors’ recognition and discussion of their clients’ psychosocial problems and reduces clients’ distress levels.
Pope, Diana S.; DeLuca, Andrea N.; Kali, Paula; Hausler, Harry; Sheard, Carol; Hoosain, Ebrahim; Chaudhary, Mohammed A.; Celentano, David D.; Chaisson, Richard E.
2008-01-01
Objective To determine whether implementation of provider-initiated HIV counseling would increase the proportion of tuberculosis patients that received HIV counseling and testing. Design Cluster-randomized trial with clinic as unit of randomization Setting Twenty, medium-sized primary care TB clinics in the Nelson Mandela Metropolitan Municipality, Port Elizabeth, Eastern Cape Province, South Africa Subjects A total of 754 adults (≥ 18 years) newly registered as tuberculosis patients the twenty study clinics Intervention Implementation of provider-initiated HIV counseling and testing. Main outcome measures Percentage of TB patients HIV counseled and tested. Secondary Percentage of patients HIV test positive and percentage of those that received cotrimoxazole and who were referred for HIV care. Results A total of 754 adults newly registered as tuberculosis patients were enrolled. In clinics randomly assigned to implement provider-initiated HIV counseling and testing, 20.7% (73/352) patients were counseled versus 7.7% (31/402) in the control clinics (p = 0.011), and 20.2 % (n = 71) versus 6.5% (n = 26) underwent HIV testing (p = 0.009). Of those patients counseled, 97% in the intervention clinics accepted testing versus 79% in control clinics (p =0.12). The proportion of patients identified as HIV-infected in intervention clinics was 8.5% versus 2.5% in control clinics (p=0.044). Fewer than 40% of patients with a positive HIV test were prescribed cotrimoxazole or referred for HIV care in either study arm. Conclusions Provider-initiated HIV counseling significantly increased the proportion of adult TB patients that received HIV counseling and testing, but the magnitude of the effect was small. Additional interventions to optimize HIV testing for TB patients urgently need to be evaluated. PMID:18520677
A Case of Diprosopus: Perinatal Counseling and Management
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Kimberly M. Thornton
2014-01-01
Full Text Available Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case.
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Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. (Morehouse Coll., Atlanta, GA (United States). School of Medicine); Crandall, L.A.; Moseley, R.E.; Armotrading, D. (Florida Univ., Gainesville, FL (United States). Coll. of Medicine)
1993-01-01
Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia's system of Children's Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.
Gartner, Verena; Weber, Michael; Eichinger, Sabine
2008-11-01
Oral contraceptives increase the thrombotic risk in women with factor V Leiden. Emotional aspects of genetic testing prior to the prescription of oral contraceptives (OC), aspects of counseling and referral patterns are widely unknown. Two hundred forty-seven women with and 132 women without factor V Leiden were interviewed by questionnaire. One hundred sixty-one women (65%) with factor V Leiden and 63 (48%) with wild-type factor V responded. One hundred seventy-one women (76%) reported being emotionally disturbed by genetic testing. Eighty percent of women with factor V Leiden and 16% of women with wild-type factor V were discouraged from OC use. Three percent of women with factor V Leiden were encouraged to take OC. Forty-one percent of women with factor V Leiden used at least one hormone contraceptive method after diagnosis. Only 46 women (29%) with factor V Leiden were counseled about the relevance of the mutation in case of pregnancy. Testing for factor V Leiden has considerable emotional impact. Recommendations after testing are not consistently driven by the test result.
A clinical audit of provider-initiated HIV counselling and testing in a ...
African Journals Online (AJOL)
Background. Early initiation of antiretroviral therapy reduces transmission of HIV and prolongs life. Expansion of HIV testing is therefore pivotal in overcoming the HIV pandemic. Provider-initiated counselling and testing (PICT) at first clinical contact is one way of increasing the number of individuals tested. Our impression is ...
Application Form for NCI Cancer Genetics Services Directory
Professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others) may fill out this application form to be listed in the National Cancer Institute's Cancer Genetics Services Directory.
Inclusion Criteria for NCI Cancer Genetics Services Directory
Professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, and others) must meet these criteria before applying to be listed in the National Cancer Institute's Cancer Genetics Services Directory.
How Might the Genetics Profession Better Utilize Social Media.
Moore, Rebekah A; Matthews, Anne L; Cohen, Leslie
2018-04-01
Social media is a common method of communication in people's personal lives and professional settings. Gallagher et al. (2016) recommended, "it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals." Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.
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Ravindra Kumar
2013-01-01
Full Text Available There are an estimated 45 million carriers of β-thalassemia trait and about 12,000-15,000 infants with β-thalassemia major are born every year in India. The consanguinity rates are higher in India, and thalassemia major constitutes a significant burden on the health care system. In present study, β-thalassemia mutations were characterized in 300 thalassemia cases from 2007 to 2010 using ARMS-PCR and DNA sequencing. The five most common mutations accounted 79.3% of the studied chromosomes that includes IVS1-5(G>C, Cod 41-42(-TCTT, Cod8-9(+G, Cod16(-C and 619bp del. Though IVS1-5(G>C is most common mutation when all the communities were included, the percentage prevalence were calculated on sub caste basis and found that IVS1-5(G>C percentage prevalence varied from 25 to 60 in Aroras & Khatris and Thakur respectively. Interestingly Cod41-42(-TCTT mutation which is the second commonest among the mutations reported was totally absent in Kayasthas and Muslim community. These findings have implications for providing molecular diagnosis, genetic counseling and prenatal diagnosis to high risk couples of β-thalassemia.
Tozzo, Pamela; Caenazzo, Luciana; Parker, Michael J
2014-03-01
Misattributed paternity or 'false' paternity is when a man is wrongly thought, by himself and possibly by others, to be the biological father of a child. Nowadays, because of the progression of genetics and genomics the possibility of finding misattributed paternity during familial genetic testing has increased. In contrast to other medical information, which pertains primarily to individuals, information obtained by genetic testing and/or pedigree analysis necessarily has implications for other biologically related members in the family. Disclosing or not a misattributed paternity has a number of different biological and social consequences for the people involved. Such an issue presents important ethical and deontological challenges. The debate centres on whether or not to inform the family and, particularly, whom in the family, about the possibility that misattributed paternity might be discovered incidentally, and whether or not it is the duty of the healthcare professional (HCP) to disclose the results and to whom. In this paper, we consider the different perspectives and reported problems, and analyse their cultural, ethical and legal dimensions. We compare the position of HCPs from an Italian and British point of view, particularly their role in genetic counselling. We discuss whether the Oviedo Convention of the Council of Europe (1997) can be seen as a basis for enriching the debate.
Smets, E.M.A.; Pieterse, A.H.; Aalfs, C.M.; Ausems, M.G.E.M.; Dulmen, A.M. van
2006-01-01
The perceived personal control (PPC) questionnaire was developed by Berkenstadt and colleagues as an outcome measure for the evaluation of the process of genetic counseling. The present study aimed to further assess the psychometric properties of a Dutch version of the instrument. Data were used
Smoking Cessation Counseling Beliefs and Behaviors of Outpatient Oncology Providers
Danhauer, Suzanne C.; Tooze, Janet A.; Blackstock, A. William; Spangler, John; Thomas, Leslie; Sutfin, Erin L.
2012-01-01
Purpose. Many cancer patients continue to smoke after diagnosis, increasing their risk for treatment complications, reduced treatment efficacy, secondary cancers, and reduced survival. Outpatient oncology providers may not be using the “teachable moment” of cancer diagnosis to provide smoking cessation assistance. Providers and Methods. Physicians and midlevel providers (n = 74) who provide outpatient oncology services completed an online survey regarding smoking cessation counseling behaviors, beliefs, and perceived barriers. Outpatient medical records for 120 breast, lung, head and neck, colon, prostate, and acute leukemia cancer patients were reviewed to assess current smoking cessation assessment and intervention documentation practices. Results. Providers reported commonly assessing smoking in new patients (82.4% frequently or always), but rates declined at subsequent visits for both current smokers and recent quitters. Rates of advising patients to quit smoking were also high (86.5% frequently or always), but oncology setting. PMID:22334454
The Contribution of Counseling Providers to the Success or Failure of Marriages
Ansah-Hughes, Winifred
2015-01-01
This study is an investigation into the contribution of counseling providers to the success or failure of marriages. The purposive and the simple random sampling methods were used to select eight churches and 259 respondents (married people) in the Techiman Municipality. The instrument used to collect data was a 26-item questionnaire including a…
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Antonio Sérgio Ramalho
2007-09-01
Full Text Available O aconselhamento genético é um componente importante da conduta médica na doença falciforme, apresentando relevantes implicações médicas, psicológicas, sociais, éticas e jurídicas. No presente trabalho são apresentadas as considerações sobre esse processo, elaboradas pelo Serviço de Aconselhamento Genético em Hemoglobinopatias da Unicamp, mediante solicitação do Programa Nacional de Atenção Integral às Pessoas com Doença Falciforme e outras Hemoglobinopatias do Ministério da Saúde.Genetic counseling is a major component of medical conduct in sickle cell disease with relevant medical, psychological, social, ethical and judicial implications. In the current work considerations of this process elaborated by the Genetic Counseling Service on Hemoglobinopathies of Unicamp at the request of the National Program of Comprehensive Care to Sufferers of Sickle Cell Disease and other Hemoglobinopathies, of the Brazilian Ministry of Health, are presentedl.
Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu
2018-01-01
Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array‑based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice‑site mutation MITF c.909G>A in family 03 and an in‑frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling.
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Wevers, Marijke R; Rutgers, Emiel JTh; Aaronson, Neil K; Ausems, Margreet GEM; Verhoef, Senno; Bleiker, Eveline MA; Hahn, Daniela EE; Hogervorst, Frans BL; Luijt, Rob B van der; Valdimarsdottir, Heiddis B; Hillegersberg, Richard van
2011-01-01
It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a BRCA1 or BRCA2 gene mutation. Such women have an increased risk of developing a new primary breast and/or ovarian tumor, and may therefore opt for preventive surgery (e.g., bilateral mastectomy, oophorectomy). It is common practice to offer high-risk patients genetic counseling and DNA testing after their primary treatment, with genetic test results being available within 4-6 months. However, some non-commercial laboratories can currently generate test results within 3 to 6 weeks, and thus make it possible to provide rapid genetic counseling and testing (RGCT) prior to primary treatment. The aim of this study is to determine the effect of RGCT on treatment decisions and on psychosocial health. In this randomized controlled trial, 255 newly diagnosed breast cancer patients with at least a 10% risk of carrying a BRCA gene mutation are being recruited from 12 hospitals in the Netherlands. Participants are randomized in a 2:1 ratio to either a RGCT intervention group (the offer of RGCT directly following diagnosis with tests results available before surgical treatment) or to a usual care control group. The primary behavioral outcome is the uptake of direct bilateral mastectomy or delayed prophylactic contralateral mastectomy. Psychosocial outcomes include cancer risk perception, cancer-related worry and distress, health-related quality of life, decisional satisfaction and the perceived need for and use of additional decisional counseling and psychosocial support. Data are collected via medical chart audits and self-report questionnaires administered prior to randomization, and at 6 month and at 12 month follow-up. This trial will provide essential information on the impact of RGCT on the choice of primary surgical treatment among women with breast cancer with an increased risk of hereditary cancer. This study will also provide
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Farmer Jennifer M
2010-10-01
age of 37 years 21. Currently, there are no treatments or cures for FRDA. Little is known about the specific psychological or psychosocial effects of the condition. FRDA is an autosomal recessive condition. The typical molecular basis of Friedreich ataxia is the expansion of a GAA trinucleotide repeat in both copies of the FXN gene 22. Age of onset usually occurs in late childhood or early adolescence. However, the availability of genetic testing has identified affected individuals with an adult form of the condition. This late-onset form is thought to represent approximately 10-15% of the total FRDA population 23. Health care providers of individuals with progressive, neurodegenerative disorders can help facilitate their patients' progression through transitional events. Data suggest that improvements should be made in the care of these individuals. Shaw et al. 24 found that individualized care that helps to prepare patients for transition is beneficial. Beisecker et al. 25 found that patients desire not only physical care from their providers, but also emotional and psychosocial support. Genetic counselors have an important opportunity to help patients with neuromuscular disorders progress through transitional events, as several of these conditions have a genetic etiology. Genetic counselors in pediatric and adult settings often develop long-term relationships with patients, due to follow-up care. This extended relationship is becoming increasingly common as genetic counselors move into various medical sub-specialties, such as neurology, ophthalmology, oncology and cardiology. The role of the genetic counselor in addressing the psychosocial needs of patients has been advocated, but rarely framed in the context of developmental events 26. Data suggest that patients may not expect a genetic counselor to address psychosocial needs 27. In a survey of genetic counseling patients, Wertz 28 found a majority of respondents understood genetic conditions to have a moderate to
Oberguggenberger, Anne; Sztankay, Monika; Morscher, Raphael Johannes; Sperner-Unterweger, Barbara; Weber, Ingrid; Hubalek, Michael; Kemmler, Georg; Zschocke, Johannes; Martini, Caroline; Egle, Daniel; Dünser, Martina; Gamper, Eva; Meraner, Verena
2016-10-01
We investigated the psychosocial consequences of genetic counseling and testing (GCT) for hereditary breast and ovarian cancer (HBOC) at follow-up in a "real-life" sample of counselees at an Austrian tertiary care center. The study cohort included counselees who had undergone genetic counseling for HBOC and completed a follow-up self-report questionnaire battery on psychosocial outcomes (quality of life, psychological distress, satisfaction with counseling and decisions). For comparison of distress, we recruited a reference sample of breast cancer survivors (BCS; n=665) who had not requested GCT in the same setting. Overall, counselees did not exhibit increased levels of anxiety and depression when compared to BCS. No specific follow-up deleterious psychosocial consequences were detected among the former group. Of the 137 counselees, 22.6% and 9.8% experienced clinically relevant levels of anxiety and depression, respectively, at an average follow-up time of 1.8years. However, both anxiety and depression significantly decreased with time and were alike between counselees with and without cancer diagnosis. Follow-up cancer worry seems to be significantly higher among counselees who had not undergone genetic testing or were undecided about it than among counselees who had been tested. Our results strongly support GCT as part of routine care for patients with HBOC. The risk factors of increased distress in specific subgroups of counselees, such as recent cancer diagnosis or uncertainty about testing, warrant further exploration and specific attention in clinical routines. Particularly, the psychological needs of undecided counselees warrant ongoing attention and potential follow-ups. Copyright © 2016 Elsevier Inc. All rights reserved.
Longstaff, Fran; Gervis, Misia
2016-01-01
This study examined how practitioners who provide sport psychology support use counselling principles and skills to develop practitioner-athlete relationships. Semi-structured interviews were conducted with thirteen competent practitioners (Mean age = 41.2 ± 10.9 years old, five men, eight women). Thematic analysis revealed that the participants used a range of counselling principles to develop practitioner-athlete relationships including: the facilitative conditions, self-disclosure, counsel...
Guglielmo, Dana; Hootman, Jennifer M; Murphy, Louise B; Boring, Michael A; Theis, Kristina A; Belay, Brook; Barbour, Kamil E; Cisternas, Miriam G; Helmick, Charles G
2018-05-04
In the United States, 54.4 million adults report having doctor-diagnosed arthritis (1). Among adults with arthritis, 32.7% and 38.1% also have overweight and obesity, respectively (1), with obesity being more prevalent among persons with arthritis than among those who do not have arthritis (2). Furthermore, severe joint pain among adults with arthritis in 2014 was reported by 23.5% of adults with overweight and 31.7% of adults with obesity (3). The American College of Rheumatology recommends weight loss for adults with hip or knee osteoarthritis and overweight or obesity,* which can improve function and mobility while reducing pain and disability (4,5). The Healthy People 2020 target for health care provider (hereafter provider) counseling for weight loss among persons with arthritis and overweight or obesity is 45.3%. † Adults with overweight or obesity who receive weight-loss counseling from a provider are approximately four times more likely to attempt to lose weight than are those who do not receive counseling (6). To estimate changes in the prevalence of provider counseling for weight loss reported by adults with arthritis and overweight or obesity, CDC analyzed National Health Interview Survey (NHIS) data. § Overall, age-standardized estimates of provider counseling for weight loss increased by 10.4 percentage points from 2002 (35.1%; 95% confidence interval [CI] = 33.0-37.3) to 2014 (45.5%; 95% CI = 42.9-48.1) (phealth benefits for this population.
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Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. [Morehouse Coll., Atlanta, GA (United States). School of Medicine; Crandall, L.A.; Moseley, R.E.; Armotrading, D. [Florida Univ., Gainesville, FL (United States). Coll. of Medicine
1993-03-01
Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia`s system of Children`s Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as to educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.
Education and certification of genetic counselors.
Katsichti, L; Hadzipetros-Bardanis, M; Bartsocas, C S
1999-01-01
Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.
Supervision Experiences of Professional Counselors Providing Crisis Counseling
Dupre, Madeleine; Echterling, Lennis G.; Meixner, Cara; Anderson, Robin; Kielty, Michele
2014-01-01
In this phenomenological study, the authors explored supervision experiences of 13 licensed professional counselors in situations requiring crisis counseling. Five themes concerning crisis and supervision were identified from individual interviews. Findings support intensive, immediate crisis supervision and postlicensure clinical supervision.
Eijzenga, W.; Aaronson, N.K.; Hahn, D.E.E.; Sidharta, G.N.; van der Kolk, L.E.; Velthuizen, M.E.; Ausems, M.G.E.M.; Bleiker, E.M.A.
2014-01-01
Purpose: This study evaluated the efficacy of a cancer genetics-specific questionnaire in facilitating communication about, awareness of, and management of psychosocial problems, as well as in lowering distress levels. Methods: Individuals referred to genetic counseling for cancer at two family
National Research Council Canada - National Science Library
O'Neill, Suzanne
2001-01-01
..., Shattuck-Eidens, Frank, and BRCAPRO models. Questionnaires assessing psychological status, and knowledge and attitudes about breast cancer, cancer risk counseling, and genetic testing were used to identify predictors of referral uptake...
Call for change in prenatal counseling for Down syndrome.
McCabe, Linda L; McCabe, Edward R B
2012-03-01
The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information that may be outdated. Those providing counseling and those providing medical care could benefit from contact with individuals with Down syndrome outside the medical context. It is imperative that each person with Down syndrome be viewed as a unique individual with particular talents. Medical care providers should work with parents to help the child or adult with Down syndrome reach his/her goals. Copyright © 2012 Wiley Periodicals, Inc.
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Voils Corrine I
2012-08-01
Full Text Available Abstract Background We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM on psychological, health behavior, and clinical outcomes. Methods/Design Eligible patients are aged 21 to 65 years with body mass index (BMI ≥27 kg/m2 and no prior diagnosis of DM. At baseline, conventional DM risk factors are assessed, and blood is drawn for possible genetic testing. Participants are randomized to receive conventional risk counseling for DM with eye disease counseling or with genetic test results. The counseling protocol was pilot tested to identify an acceptable graphical format for conveying risk estimates and match the length of the eye disease to genetic counseling. Risk estimates are presented with a vertical bar graph denoting risk level with colors and descriptors. After receiving either genetic counseling regarding risk for DM or control counseling on eye disease, brief lifestyle counseling for prevention of DM is provided to all participants. Discussion A standardized risk counseling protocol is being used in a randomized trial of 600 participants. Results of this trial will inform policy about whether risk counseling should include genetic counseling. Trial registration ClinicalTrials.gov Identifier NCT01060540
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Miriam Taegtmeyer
Full Text Available The role of men who have sex with men (MSM in the African HIV epidemic is gaining recognition yet capacity to address the HIV prevention needs of this group is limited. HIV testing and counselling is not only a critical entry point for biomedical HIV prevention interventions, such as pre-exposure prophylaxis, rectal microbicides and early treatment initiation, but is also an opportunity for focused risk reduction counselling that can support individuals living in difficult circumstances. For prevention efforts to succeed, however, MSM need to access services and they will only do so if these are non-judgmental, informative, focused on their needs, and of clear benefit. This study aimed to understand Kenyan providers' attitudes towards and experiences with counselling MSM in a research clinic targeting this group for HIV prevention. We used in-depth interviews to explore values, attitudes and cognitive and social constructs of 13 counsellors and 3 clinicians providing services to MSM at this clinic. Service providers felt that despite their growing experience, more targeted training would have been helpful to improve their effectiveness in MSM-specific risk reduction counselling. They wanted greater familiarity with MSM in Kenya to better understand the root causes of MSM risk-taking (e.g., poverty, sex work, substance abuse, misconceptions about transmission, stigma, and sexual desire and felt frustrated at the perceived intractability of some of their clients' issues. In addition, they identified training needs on how to question men about specific risk behaviours, improved strategies for negotiating risk reduction with counselling clients, and improved support supervision from senior counsellors. This paper describes the themes arising from these interviews and makes practical recommendations on training and support supervision systems for nascent MSM HIV prevention programmes in Africa.
Taegtmeyer, Miriam; Davies, Alun; Mwangome, Mary; van der Elst, Elisabeth M; Graham, Susan M; Price, Matt A; Sanders, Eduard J
2013-01-01
The role of men who have sex with men (MSM) in the African HIV epidemic is gaining recognition yet capacity to address the HIV prevention needs of this group is limited. HIV testing and counselling is not only a critical entry point for biomedical HIV prevention interventions, such as pre-exposure prophylaxis, rectal microbicides and early treatment initiation, but is also an opportunity for focused risk reduction counselling that can support individuals living in difficult circumstances. For prevention efforts to succeed, however, MSM need to access services and they will only do so if these are non-judgmental, informative, focused on their needs, and of clear benefit. This study aimed to understand Kenyan providers' attitudes towards and experiences with counselling MSM in a research clinic targeting this group for HIV prevention. We used in-depth interviews to explore values, attitudes and cognitive and social constructs of 13 counsellors and 3 clinicians providing services to MSM at this clinic. Service providers felt that despite their growing experience, more targeted training would have been helpful to improve their effectiveness in MSM-specific risk reduction counselling. They wanted greater familiarity with MSM in Kenya to better understand the root causes of MSM risk-taking (e.g., poverty, sex work, substance abuse, misconceptions about transmission, stigma, and sexual desire) and felt frustrated at the perceived intractability of some of their clients' issues. In addition, they identified training needs on how to question men about specific risk behaviours, improved strategies for negotiating risk reduction with counselling clients, and improved support supervision from senior counsellors. This paper describes the themes arising from these interviews and makes practical recommendations on training and support supervision systems for nascent MSM HIV prevention programmes in Africa.
Vos, Joel; Stiggelbout, Anne M.; Oosterwijk, Jan; Gomez-Garcia, Encarna; Menko, Fred; Collee, J. Margriet; van Asperen, Christi J.; Tibben, Aad
Purpose: Genetic counseling may help counselees understand their genetic risk of developing breast/ovarian cancer. However, many studies have shown that their perception of their risks is inaccurate. Information-oriented variables often predicted the level of accuracy, focusing on specific processes
Penn, Claire; Watermeyer, Jennifer; MacDonald, Carol; Moabelo, Colleen
2010-02-01
With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.
Wilson, R Douglas; De Bie, Isabelle; Armour, Christine M; Brown, Richard N; Campagnolo, Carla; Carroll, June C; Okun, Nan; Nelson, Tanya; Zwingerman, Rhonda; Audibert, Francois; Brock, Jo-Ann; Brown, Richard N; Campagnolo, Carla; Carroll, June C; De Bie, Isabelle; Johnson, Jo-Ann; Okun, Nan; Pastruck, Melanie; Vallée-Pouliot, Karine; Wilson, R Douglas; Zwingerman, Rhonda; Armour, Christine; Chitayat, David; De Bie, Isabelle; Fernandez, Sara; Kim, Raymond; Lavoie, Josee; Leonard, Norma; Nelson, Tanya; Taylor, Sherry; Van Allen, Margot; Van Karnebeek, Clara
2016-08-01
This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7. Fertile, sexually active females and their fertile, sexually active male partners who are either planning a pregnancy or are pregnant (preferably in the first trimester of pregnancy, but any gestational age is acceptable). Women and their partners will be able to obtain appropriate genetic carrier screening information and possible diagnosis of AR, AD, or XL disorders (preferably pre-conception), thereby allowing an informed choice regarding genetic carrier screening and reproductive options (e.g., prenatal diagnosis, preimplantation genetic diagnosis, egg or sperm donation, or adoption). Informed reproductive decisions related to genetic carrier screening and reproductive outcomes based on family history, ethnic background, past obstetrical history, known carrier status, or genetic diagnosis. SOGC REPRODUCTIVE CARRIER SCREENING SUMMARY STATEMENT (2016): Pre-conception or prenatal education and counselling for reproductive carrier screening requires a discussion about testing within the three perinatal genetic carrier screening/diagnosis time periods, which include pre-conception, prenatal, and neonatal for conditions currently being screened for and diagnosed. This new information should be added to the standard reproductive carrier screening protocols that are already being utilized by
A Group Counseling and Educational Program for Students with Usher's Syndrome.
Vernon, McCay; Hicks, Wanda
1983-01-01
Group counseling for secondary students with Usher's syndrome, a genetic condition resulting in hearing impairment at birth and gradual loss of vision, was intended to provide information and opportunities for expression. Results included practical changes in school environment, increased information about deaf-blindness for the students, and help…
Directory of Open Access Journals (Sweden)
Ferraro ZM
2013-09-01
Full Text Available Zachary M Ferraro,1 Kaitlin S Boehm,1 Laura M Gaudet,2,3 Kristi B Adamo1,4,5 1Healthy Active Living and Obesity Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; 2Horizon Health Network, Saint John, New Brunswick, Canada; 3Department of Obstetrics and Gynaecology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada; 4School of Human Kinetics, Faculty of Health Sciences, 5Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada Introduction: There is discord between the recall of maternity care providers and patients when it comes to discussion of gestational weight gain (GWG and obesity management. Few women report being advised on GWG, physical activity (PA, and nutrition, yet the majority of health care providers report discussing these topics with patients. We evaluated whether various Canadian maternal health care providers can identify appropriate GWG targets for patients with obesity and determine if providers report counseling on GWG, physical activity, and nutrition. Methods: A valid and reliable e-survey was created using SurveyMonkey software and distributed by the Society of Obstetricians and Gynaecologists of Canada listserve. A total of 174 health care providers finished the survey. Respondents self-identified as general practitioners, obstetricians, maternal-fetal medicine specialists, midwives, or registered nurses. Results: GWG recommendations between disciplines for all body mass index categories were similar and fell within Health Canada/Institute of Medicine (IOM guidelines. Of those who answered this question, 110/160 (68.8% were able to correctly identify the maximum IOM GWG recommended for patients with obesity, yet midwives tended to recommend 0.5–1 kg more GWG (P = 0.05. PA counseling during pregnancy differed between disciplines (P < 0.01, as did nutrition counseling during pregnancy (P < 0.05. Conclusion: In
Introduction to the Major Contribution: Counseling Psychology and Online Counseling
Mallen, Michael J.; Vogel, David L.
2005-01-01
This article introduces the Major Contribution, which focuses on online counseling. Several acronyms and terms are presented to familiarize the reader with distance-communication technology, including a definition of online counseling. The authors show how counseling psychology provides a framework for specific questions related to the theory,…
Peay, H L; Hooker, G W; Kassem, L; Biesecker, B B
2009-03-01
Genetics and mental health professionals increasingly provide education and counseling related to risk for psychiatric illness, but there is insufficient evidence about patient perceptions and needs to guide such interventions. Affected individuals and relatives may perceive increased family risk and have interest in genetic education and counseling. Our objectives were to explore perceptions of family vulnerability, perceived control, and coping strategies related to familial risk and needs from genetic counseling. Our methods included conducting semi-structured interviews (n = 48) with individuals with bipolar disorder (BPD) and unaffected siblings. Content analysis generated descriptive data that provide guidance for clinical interventions and themes to evaluate in future studies. The results showed that participants perceived increased personal and family risk, attributing BPD to genes and family environment. Causal attributions were often uncertain and at times inconsistent. Participants wished to modify psychiatric risk to relatives, but were uncertain how to do so; despite the uncertainty, most parents reported risk-modification efforts. Efforts to cope with family vulnerability included monitoring and cognitive distancing. Participants endorsed the usefulness of education and psychological support, but described more ambivalence about receiving risk assessment. Educational and supportive interventions around family risk for BPD should focus on perceptions of cause and vulnerability, reproductive decision-making, and early intervention and risk modification in young relatives. Psychological support is an important component. Providers should evaluate patient coping strategies, which could facilitate or hinder genetic counseling interventions, and should not assume interest in quantitative risk assessment. 2009 Wiley-Liss, Inc.
Ockhuysen-Vermey, C.F.; Henneman, L.; van Asperen, C.J.; Oosterwijk, J.C.; Menko, F.H.; Timmermans, D.R.M.
2008-01-01
Background: Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice.
Ockhuysen-Vermey, Caroline F.; Henneman, Lidewij; van Asperen, Christi J.; Oosterwijk, Jan C.; Menko, Fred H.; Timmermans, Danielle R. M.
2008-01-01
Background: Understanding risks is considered to be crucial for informed decision-making. Inaccurate risk perception is a common finding in women with a family history of breast cancer attending genetic counseling. As yet, it is unclear how risks should best be communicated in clinical practice.
Tuthill, Emily L; Chan, Jessica; Butler, Lisa M
2015-01-01
Exclusive breastfeeding (EBF) has been identified as the optimal nutrition and critical behavior in attaining human immunodeficiency virus (HIV)-free infant survival in resource-limited settings. Health-care providers (HCPs) in clinic- and community-settings throughout sub-Saharan Africa (sSA) provide infant-feeding counseling. However, rates of EBF at 6 months of age are suboptimal. HCPs are uniquely positioned to educate HIV-positive mothers and provide support by addressing known barriers to EBF. However, limited evidence exists on the experiences faced by HCPs in providing counseling on infant feeding to HIV-positive women. Our objective is to describe experiences faced by HCPs when delivering infant-feeding counseling in the context of HIV in program settings in sSA. We searched a range of electronic databases, including PubMed, CINAHL, and PsycINFO from January 1990 to February 2013, in addition to hand-searching, cross-reference searching, and personal communications. The search was limited to publications in English. Empirical studies of HCP experiences providing infant-feeding counseling in the prevention of mother-to-child transmission (PMTCT) of HIV programs in sSA were selected. We identified 10 peer-reviewed articles reporting HCP challenges in infant-feeding counseling that met inclusion criteria. Articles included qualitative, cross-sectional and mixed-method studies, and cumulatively reported 31 challenges faced by HCPs. Among the challenges identified, the most commonly reported were personal beliefs held by the HCPs toward infant feeding in the context of HIV, contradictory messages, staff workload, directive counseling styles, and a lack of practical strategies to offer mothers, often leading to improvised counseling approaches. Counseling strategies need to be developed that are relevant, meaningful, and responsive to the needs of both HCPs and mothers.
Trainees versus Staff: Exploring Counseling Outcomes in a College Counseling Center
Ilagan, Guy; Vinson, Mike; Sharp, Julia L.; Havice, Pamela; Ilagan, Jill
2014-01-01
Investigators compared counseling outcomes among nonpaid graduate-level trainees and professional staff at a college counseling center. Counseling outcomes for 331 college student participants were measured using the Outcome Questionnaire 45.2 (OQ45.2), employing a pretest--posttest design. The two groups of service providers did not differ…
Genetic Counseling in Mental Retardation.
Bowen, Peter
The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…
Directory of Open Access Journals (Sweden)
Peter Twyman
2009-09-01
Full Text Available Testing is the gateway to HIV care and support services, and efforts to broaden treatment must include a proactive and inclusive approach to testing. Provider Initiated Testing and Counseling (PITC for HIV utilizes the opportunity afforded by the clinical encounter for the care provider to make a clinical recommendation that the patient have a voluntary HIV test. It is hoped that by broadening testing by such strategies as PITC more patients may be identified and linked to treatment and support. However, there exist multiple challenges and questions regarding the provision of routine HIV testing and counseling in clinical facilities. In order to support further PITC efforts and scale up of current testing programs, a research agenda that addresses the ethical, social and operational components of PITC programming in health facilities, is critically needed to further guide its expansion.
Wevers, M.R.; Ausems, M.G.E.M.; Verhoef, S.; Bleiker, E.M.A.; Hahn, D.E.E.; Brouwer, T.; Hogervorst, F.B.L.; van der Luijt, R.B.; van Dalen, T.; Theunissen, E.B.; van Ooijen, B.; de Roos, M.A.; Borgstein, P.J.; Vrouenraets, B.C.; Vriens, E.; Bouma, W.H.; Rijna, H.; Vente, J.P.; Kieffer, J.M.; Valdimarsdottir, H.B.; Rutgers, E.J.Th.; Witkamp, A.J.; Aaronson, N.K.
2016-01-01
Purpose: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing (RGCT) before surgery may influence choice of primary surgical treatment. In this article, we report on the psychosocial impact of RGCT.
Evans, Catrin; Nalubega, Sylivia; McLuskey, John; Darlington, Nicola; Croston, Michelle; Bath-Hextall, Fiona
2016-01-15
Global progress towards HIV prevention and care is contingent upon increasing the number of those aware of their status through HIV testing. Provider-initiated HIV testing and counseling is recommended globally as a strategy to enhance uptake of HIV testing and is primarily conducted by nurses and midwives. Research shows that provider-initiated HIV testing and counseling implementation is sub-optimal. The reasons for this are unclear. The review aimed to explore nurses' and midwives' views and experiences of the provision and management of provider-initiated HIV testing and counseling. All cadres of nurses and midwives were considered, including those who undertake routine HIV testing as part of a diverse role and those who are specifically trained as HIV counselors. Types of phenomenon of interest: The review sought to understand the views and experiences of the provision and management of provider-initiated HIV testing and counseling (including perceptions, opinions, beliefs, practices and strategies related to HIV testing and its implementation in practice). The review included only provider-initiated HIV testing and counseling. It excluded all other models of HIV testing. The review included all countries and all healthcare settings. Types of studies: This review considered all forms of qualitative study design and methodology. Qualitative elements of a mixed method study were included if they were presented separately within the publication. A three-step search strategy was utilized. Eight databases were searched for papers published from 1996 to October 2014, followed by hand searching of reference lists. Only studies published in the English language were considered. Methodological quality was assessed using the Qualitative Assessment and Review Instrument developed by the Joanna Briggs Institute. Qualitative findings were extracted using the Joanna Briggs Institute Qualitative Assessment and Review Instrument. Qualitative research findings were pooled
Cragun, Deborah; Scherr, Courtney; Camperlengo, Lucia; Vadaparampil, Susan T; Pal, Tuya
2016-10-01
We describe practitioner knowledge and practices related to hereditary breast and ovarian cancer (HBOC) in an evolving landscape of genetic testing. A survey was mailed in late 2013 to Florida providers who order HBOC testing. Descriptive statistics were conducted to characterize participants' responses. Of 101 respondents, 66% indicated either no genetics education or education through a commercial laboratory. Although 79% of respondents were aware of the Supreme Court ruling resulting in the loss of Myriad Genetics' BRCA gene patent, only 19% had ordered testing from a different laboratory. With regard to pretest counseling, 78% of respondents indicated they usually discuss 11 of 14 nationally recommended elements for informed consent. Pretest discussion times varied from 3 to 120 min, with approximately half spending 40% of respondents included (1) possibility of a variant of uncertain significance (VUS) and (2) issues related to life/disability insurance. With regard to genetic testing for HBOC, 88% would test an unaffected sister of a breast cancer patient identified with a BRCA VUS. Results highlight the need to identify whether variability in hereditary cancer service delivery impacts patient outcomes. Findings also reveal opportunities to facilitate ongoing outreach and education.
Puig, Susana; Potrony, Miriam; Cuellar, Francisco; Puig-Butille, Joan Anton; Carrera, Cristina; Aguilera, Paula; Nagore, Eduardo; Garcia-Casado, Zaida; Requena, Celia; Kumar, Rajiv; Landman, Gilles; Costa Soares de Sá, Bianca; Gargantini Rezze, Gisele; Facure, Luciana; de Avila, Alexandre Leon Ribeiro; Achatz, Maria Isabel; Carraro, Dirce Maria; Duprat Neto, João Pedreira; Grazziotin, Thais C; Bonamigo, Renan R; Rey, Maria Carolina W; Balestrini, Claudia; Morales, Enrique; Molgo, Montserrat; Bakos, Renato Marchiori; Ashton-Prolla, Patricia; Giugliani, Roberto; Larre Borges, Alejandra; Barquet, Virginia; Pérez, Javiera; Martínez, Miguel; Cabo, Horacio; Cohen Sabban, Emilia; Latorre, Clara; Carlos-Ortega, Blanca; Salas-Alanis, Julio C; Gonzalez, Roger; Olazaran, Zulema; Malvehy, Josep; Badenas, Celia
2016-07-01
CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.
Directory of Open Access Journals (Sweden)
Peggy Brady-Amoon
2017-02-01
Full Text Available Psychology, counseling psychology, and professional counseling are at a crossroad. The growing movement to establish professional counseling as a distinct profession, based on an increasingly narrow definition of professional identity, is particularly relevant to counseling psychologists and professional counselors and has implications for the broader field of psychology. A brief systematic historical analysis of these professional specialties in the U.S. provides the context to examine current challenges, including proposed restriction of master’s level training, licensure or other authorization to practice, and employment to graduates of programs accredited by the Council for the Accreditation of Counseling and Related Educational Programs (CACREP. These restrictions reduce services to the public and threaten the viability of counseling psychology and professional counseling in the U.S. These challenges also have significant implications for counseling psychologists in Europe and internationally given similar efforts. Going beyond a call to action, the article concludes with recommendations for counseling psychologists and allied professionals to address shared challenges, maximize shared opportunities, and foster enhanced intra- and inter-professional collaboration and cooperation.
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.6100... Recipients Counseling § 21.6100 Counseling. General. A veteran requesting or being furnished assistance under this temporary program shall be provided professional counseling services by the Vocational...
Cvelbar, Mirjam; Hocevar, Marko; Novakovic, Srdjan; Stegel, Vida; Perhavec, Andraz
2017-01-01
Abstract Background In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to
Vallis, M; Lee-Baggley, D; Sampalli, T; Ryer, A; Ryan-Carson, S; Kumanan, K; Edwards, L
2018-01-01
There is an urgent need for healthcare providers and healthcare systems to support productive interactions with patients that promote sustained health behaviour change in order to improve patient and population health outcomes. Behaviour change theories and interventions have been developed and evaluated in experimental contexts; however, most healthcare providers have little training, and therefore low confidence in, behaviour change counselling. Particularly important is how to integrate theory and method to support healthcare providers to engage in behaviour change counselling competently. In this article, we describe a general training model developed from theory, evidence, experience and stakeholder engagement. This model will set the stage for future evaluation research on training needed to achieve competency, sustainability of competency, as well as effectiveness/cost-effectiveness of training in supporting behaviour change. A framework to support competency based training in behaviour change counselling is described in this article. This framework is designed to be integrative, sustainable, scalable and capable of being evaluated in follow-up studies. Effective training in behaviour change counselling is critical to meet the current and future healthcare needs of patients living with, or at risk of, chronic diseases. Increasing competency in establishing change-based relationships, assessing and promoting readiness to change, implementing behaviour modification and addressing psychosocial issues will be value added to the healthcare system. Copyright © 2017 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.
Directory of Open Access Journals (Sweden)
Cínthia Tavares Leal Guimarães
2010-06-01
Full Text Available O aconselhamento genético tem a finalidade de nortear as pessoas sobre a tomada de decisões a respeito da procriação, ajudando-as a entender como a hereditariedade pode colaborar para a ocorrência ou risco de recorrência de doenças genéticas, como é o caso da anemia falciforme. Esta anemia é a doença hereditária de maior prevalência no Brasil, com complicações clínicas que podem prejudicar o desenvolvimento, a qualidade de vida e levar à morte. O presente artigo tem o intuito de elucidar a importância do aconselhamento genético para os portadores de anemia ou traço falciforme, visando salientar as principais características dessa doença, suas complicações e como é feito o diagnóstico e a captação desses doentes. O estudo realizado foi embasado no método bibliográfico, buscando estudos que dissertam sobre esse tipo de anemia e aconselhamento genético, correlacionando-os com as diretrizes e dados do Ministério da Saúde. A partir dos dados encontrados, infere-se a importância do aconselhamento genético para os indivíduos que apresentam a forma heterozigota da anemia falciforme - o traço falcêmico - e destaca-se a necessidade de implantação de programas de diagnóstico precoce e de orientação tanto genética quanto social e psicológica para as pessoas que possuem a doença ou o traço falciforme.The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia. This type of anemia is the most prevalence hereditary illness in Brazil and has clinical complications that can harm the development, the quality of life and lead to death. The present article has the objective to clarify the importance of the genetic counseling for the anemia carriers or falciform
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.100... Counseling § 21.100 Counseling. (a) General. A veteran requesting or being furnished assistance under Chapter 31 shall be provided professional counseling services by Vocational Rehabilitation and Employment (VR...
Cook, Lola; Schulze, Jeanine
2017-12-01
There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease. Parkinson disease is, in part, caused by the same mutations in the GBA gene that lead to Gaucher disease, and the two conditions are thought to have shared pathophysiology. Briefly reviewed are how these two diseases historically became linked, where their paths cross, potential problems and considerations in disclosure of the link, and current guidelines and research in this area. Genetic counseling experience with a large Parkinson disease cohort is used as a starting point to question the state of clinical and nonclinical practice in disclosing this unusual connection We conclude that more research and discussion are needed to inform practice regarding the crossroads of Gaucher and Parkinson disease.
Genetic Forms of Epilepsies and other Paroxysmal Disorders
Olson, Heather E.; Poduri, Annapurna; Pearl, Phillip L.
2016-01-01
Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including Tuberous Sclerosis Complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of singe gene causes or susceptibility factors associated with several epilepsy syndromes, including the early onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look towards the future of epilepsy genetics. PMID:25192505
Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Langen, Irene M.
Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas,
Yoshida, Kunihiro; Tamai, Mariko; Kubota, Takeo; Kawame, Hiroshi; Amano, Naoji; Ikeda, Shu-ichi; Fukushima, Yoshimitsu
2002-02-01
Predictive genetic testing for hereditary neuromuscular diseases is a delicate issue for individuals at risk and their families, as well as for medical staff because these diseases are often late-onset and intractable. Therefore careful pre- and post-test genetic counseling and psychosocial support should be provided along with such genetic testing. The Division of Clinical and Molecular Genetics was established at our hospital in May 1996 to provide skilled professional genetic counseling. Since its establishment, 14 individuals have visited our clinic to request predictive genetic testing for hereditary neuromuscular diseases (4 for myotonic dystrophy, 6 for spinocerebellar ataxia, 3 for Huntington's disease, and 1 for Alzheimer's disease). The main reasons for considering testing were to remove uncertainty about the genetic status and to plan for the future. Nine of 14 individuals requested testing for making decisions about a forthcoming marriage or pregnancy (family planning). Other reasons raised by the individuals included career or financial planning, planning for their own health care, and knowing the risk for their children. At the first genetic counseling session, all of the individuals expressed hopes of not being a gene carrier and of escaping from fear of disease, and seemed not to be mentally well prepared for an increased-risk result. To date, 7 of the 14 individuals have received genetic testing and only one, who underwent predictive genetic testing for spinocerebellar ataxia, was given an increased-risk result. The seven individuals including the one with an increased-risk result, have coped well with their new knowledge about their genetic status after the testing results were disclosed. None of them has expressed regret. In pre-test genetic counseling sessions, we consider it quite important not only to determine the psychological status of the individual, but also to make the individual try to anticipate the changes in his/her life upon
Patel, Shilpa N.; Marks, Gary; Gardner, Lytt; Golin, Carol E.; Shinde, Sanjyot; O'Daniels, Christine; Wilson, Tracey E.; Quinlivan, E. Byrd; Banderas, Julie W.
2013-01-01
Objective: The aim of this study was to examine whether brief training of human immunodeficiency virus (HIV) medical providers increased the frequency with which they routinely delivered prevention counselling to patients, and whether patient characteristics were associated with receipt of that counselling. Design: Longitudinal. Setting: Seven HIV…
Professional challenges in cancer genetic testing: who is the patient?
Chan-Smutko, Gayun; Patel, Devanshi; Shannon, Kristen M; Ryan, Paula D
2008-03-01
In the genetic counseling setting, the health care provider can be challenged by opposing duties to members of the same family: protecting the privacy of the patient identified with a gene mutation and the ethical obligation to warn at-risk relatives. In a situation of nondisclosure between members of a family with a known disease-predisposing mutation, this type of dilemma can present in acute form for the provider who cares for different members of the family. This can hinder effective medical decision making. To minimize this effect, we recommend detailed pretest genetic counseling steps to empower the patient to communicate with their at-risk relatives their intent to pursue testing and willingness to share information. In addition, post-test counseling should reiterate the implications of a positive result for at-risk relatives and conclude with a written summary that patients can share with their family.
Human Genetics. Informational and Educational Materials, Vol. I, No. 1.
National Clearinghouse for Human Genetic Diseases (DHEW/PHS), Rockville, MD.
This catalogue, prepared by the National Clearinghouse for Human Genetic Diseases, provides educational and informational materials on the latest advances in testing, diagnosing, counseling, and treating individuals with a concern for genetic diseases. The materials include books, brochures, pamphlets, journal articles, audio cassettes,…
38 CFR 21.3102 - Required counseling.
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Required counseling. 21.... Chapter 35 Counseling § 21.3102 Required counseling. (a) Child. The VA counseling psychologist will provide counseling and assist in preparing the educational plan only if the eligible child or his or her...
Counseling-Related Research in Counseling Psychology: Creating Bricks, Not Edifices
Scheel, Michael J.; Berman, Margit; Friedlander, Myrna L.; Conoley, Collie W.; Duan, Changming; Whiston, Susan C.
2011-01-01
Three counseling psychology colleagues (Lichtenberg, 2011; Mallinckrodt, 2011; Murdock, 2011 [all this issue]) provide differing perspectives about the findings from our target article (Scheel et al., 2011) of the decline of published counseling-related research in our major journals. In this rejoinder we respond to each author's viewpoints…
Sexual counseling and cardiovascular disease: practical approaches
Directory of Open Access Journals (Sweden)
Elaine E Steinke
2015-02-01
Full Text Available Patients with cardiovascular disease and their partners expect health care providers to provide sexual counseling to assist them in maintaining sexual quality of life. Evidence suggests however, that there is a gap in integrating evidence into practice and that relatively few cardiac patients receive sexual counseling. This can result in negative psychological, physical, and quality of life outcomes for couples who may needlessly decide sexual activity is too risky and cease all sexual activity. Two scientific statements now exist that provide ample guidance to health care providers in discussing this important topic. Using a team approach that includes physicians, nurses, physical therapists, rehabilitation staff, and others is important to ensure that sexual counseling occurs throughout recovery. In addition, several trials using interventional approaches for sexual counseling provide insight into successful approaches for sexual counseling in practice. This article provides practical strategies and evidence-based approaches for assessment and sexual counseling for all cardiac patients and their partners, and specific counseling for those with ischemic conditions, heart failure, and implanted devices.
Kentenich, H; Tandler-Schneider, A
2012-09-01
The role of the physician in the context of in vitro fertilization and preimplantation genetic diagnosis has certain distinct characteristics. Involuntary childlessness by definition of the WHO is a disease with good treatment options. As it is not considered a medical emergency, the focus lies more on intensive information giving, education, and counseling. Because the diagnosis and treatment can be a medical and psychological strain for the couple, counseling should address both medical and psychological aspects. The physician needs to have detailed medical knowledge as well as good communication skills to be able to meet the specific needs of the couple. Moreover, the physician should point out the realistic success rates of treatment and should refer to alternatives, such as remaining childless, adoption, and sperm or egg donation. The concurrent inclusion of biological, psychological, social, and ethical aspects in terms of psychosomatic basic care (Psychosomatische Grundversorgung) seems to be useful. There is potential for conflicts, for example, due to the economic interests of the physician. On the other hand, the treatment can be a financial burden for the couple. Of importance are the physician's and the patient's moral concepts, especially concerning some aspects of therapy (sperm and egg donation, surrogacy). The expected welfare of the intended child should also be respected (e.g., higher risk of preterm birth in multiple pregnancies). Further possible conflicts in reproductive medicine arise because of the crossing of moral boundaries (oocyte donation for postmenopausal women, surrogacy, cloning of human beings). The framework of counseling is based on the guidelines of the German Medical Association (Bundesärztekammer) for assisted reproduction (2006). Preimplantation genetic diagnosis has special requirements from a medical and psychosocial point of view.
Mendryga, Tiffany A; Gwozdek, Anne E
2014-01-01
Children from low-income families and ethnic minority groups are associated with an increased risk of developing dental disease and are often enrolled in the Women, Infants and Children (WIC) nutritional program. It has been an intention of the Michigan Department of Community Health (MDCH) Oral Health Program (OHP) to collaborate with WIC to provide preventive oral health resources and education to their population. This project focused on achieving the goals outlined in the Michigan 2010 State Oral Health Plan. An 18 question survey was designed to identify gaps existing in oral health counseling in Michigan WIC agencies. The survey was disseminated to 56 MI WIC agencies. WIC providers perceive oral health risk assessment to be important and are asking oral health questions during certification and re-certification appointments. Seventy-nine percent of participants indicated they never had training in oral health counseling, and 79% are interested in learning more about oral health. Agencies are interested in obtaining oral health education resources for their clients. The 2010 State Oral Health Plan's goals recognized the need for oral health related resources and education within community-based programs like WIC. The results of the survey support the need for additional oral health counseling and associated resources in WIC agencies. This information will be used to help the MDCH OHP find ways to address these gaps. Copyright © 2014 The American Dental Hygienists’ Association.
Genetic counselling in the beta-thalassaemias
Directory of Open Access Journals (Sweden)
Adonis S. Ioannides
2013-03-01
Full Text Available The beta-thalassaemias are very important genetic disorders of haemoglobin synthesis and are amongst the commonest monogenic disorders. In view of the severity of beta-thalassaemia major, a number of screening programmes have been developed aimed at reducing the number of individuals born with the condition. Genetic counsellingplays a vital role in this process supporting the successful implementation of screening and delineating available options to at risk individuals. This review assesses the contribution of genetic counsellingat each stage of this process in the context of new diagnostic techniques and therapeutic options and discusses some of the more challenging aspects such as genotype/ phenotype correlation and coinheritance of other genetic conditions or genetic modifiers.
A systematic analysis of online marketing materials used by providers of expanded carrier screening.
Chokoshvili, Davit; Borry, Pascal; Vears, Danya F
2017-12-14
PurposeExpanded carrier screening (ECS) for a large number of recessive disorders is available to prospective parents through commercial providers. This study aimed to analyze the content of marketing materials on ECS providers' websites.MethodsTo identify providers of ECS tests, we undertook a comprehensive online search, reviewed recent academic literature on commercial carrier screening, and consulted with colleagues familiar with the current ECS landscape. The identified websites were archived in April 2017, and inductive content analysis was performed on website text, brochures and educational materials, and video transcripts.ResultsWe identified 18 ECS providers, including 16 commercial genetic testing companies. Providers typically described ECS as an important family planning tool. The content differed in both the tone used to promote ECS and the accuracy and completeness of the test information provided. We found that most providers offered complimentary genetic counseling to their consumers, although this was often optional, limited to the posttest context, and, in some cases, appeared to be available only to test-positive individuals.ConclusionThe quality of ECS providers' websites could be improved by offering more complete and accurate information about ECS and their tests. Providers should also ensure that all carrier couples receive posttest genetic counseling to inform their subsequent reproductive decision making.Genet Med advance online publication, 14 December 2017; doi:10.1038/gim.2017.222.
Contraceptive counseling for adolescents.
Potter, Julia; Santelli, John S
2015-11-01
The majority of adolescents become sexually active during their teenage years, making contraceptive counseling an important aspect of routine adolescent healthcare. However, many healthcare providers express discomfort when it comes to counseling adolescents about contraceptive options. This Special Report highlights the evidence supporting age-appropriate contraceptive counseling for adolescents and focuses on best practices for addressing adolescents' questions and concerns about contraceptive methods.
Basic concepts of medical genetics, formal genetics, Part 1
African Journals Online (AJOL)
Mohammad Saad Zaghloul Salem
2013-11-15
Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.
28 CFR 550.43 - Drug counseling.
2010-07-01
... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Drug counseling. 550.43 Section 550.43... Drug Services (Urine Surveillance and Counseling for Sentenced Inmates in Contract CTCs) § 550.43 Drug counseling. (a) Drug counseling shall be provided to sentenced inmates in contract community treatment...
Sie, Aisha S; Spruijt, Liesbeth; van Zelst-Stams, Wendy A G; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J L; Brunner, Han G; Prins, Judith B; Hoogerbrugge, Nicoline
2016-06-01
According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p = 0.01) and BC-specific distress (IES-bc, p = 0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.
Redlinger-Grosse, Krista; Veach, Patricia McCarthy; MacFarlane, Ian M
2013-08-01
Genetic counselor self-disclosure is a complex behavior that lacks extensive characterization. In particular, data are limited about genetic counselors' responses when patients ask them to self-disclose. Accordingly, this study investigated genetic counseling students' (n = 114) and practicing genetic counselors' (n = 123) responses to two hypothetical scenarios in which a female prenatal patient requests self-disclosure. Scenarios were identical except for a final patient question: "Have you ever had an amniocentesis?" or "What would you do if you were me?" Imagining themselves as the counselor, participants wrote a response for each scenario and then explained their response. Differences in disclosure frequency for students vs. counselors and disclosure question were assessed, and themes in participant responses and explanations were extracted via content and thematic analysis methods. Chi-square analyses indicated no significant differences in frequency of student versus counselor disclosure. Self-disclosure was significantly higher for, "Have you ever had an amniocentesis?" (78.5 %) than for, "What would you do if you were me?" (53.2 %) (p self-disclosures included personal, professional, and mixed disclosures. Prevalent explanations for disclosure and non-disclosure responses included: remain patient focused and support/empower the patient. Additional findings, practice and training implications, and research recommendations are presented.
34 CFR 685.304 - Counseling borrowers.
2010-07-01
... 34 Education 3 2010-07-01 2010-07-01 false Counseling borrowers. 685.304 Section 685.304 Education... Direct Loan Program Schools § 685.304 Counseling borrowers. (a) Entrance counseling. (1) Except as provided in paragraph (a)(8) of this section, a school must ensure that entrance counseling is conducted...
2010-04-01
... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Counseling. 206.41 Section 206.41... CONVERSION MORTGAGE INSURANCE Eligibility; Endorsement Eligible Mortgagors § 206.41 Counseling. (a) List... receive counseling. (b) Information to be provided. A counselor must discuss with the mortgagor: (1) The...
Counselling adults who experience a first seizure.
Legg, Karen T; Newton, Mark
2017-07-01
A first seizure can result in significant uncertainty, fear and apprehension. One of the key roles of the clinician in the setting of first seizure is to provide accurate, timely information and counselling. We review the numerous components to be considered when counselling an adult patient after a first seizure. We provide a framework and manner to provide that counselling. We focus on an individualized approach and provide recommendations and information on issues of diagnosis, etiology, prognosis, the role and importance of medical testing, lifestyle considerations, driving, medication and other key counselling considerations. Accurate, timely counselling can allay fears and anxieties, remove misconceptions and reduce the risk for injury in seizure recurrence. Copyright © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
General Counsel`s office FY 1995 site support program plan WBS 6.10.5
Energy Technology Data Exchange (ETDEWEB)
Moreno, S.R.
1994-09-01
The General Counsel`s office provides legal counsel to all levels of WHC management; administers the intellectual property program; coordinates all WHC investigative activity and supports WHC activities to ensure compliance with all applicable federal, state, and local laws, DOE directives, contractual provisions, and other requirements. In so doing, the Office of General Counsel supports the Hanford site mission of transforming the Hanford site into an environmentally attractive and economically sustainable community. This document briefs the FY95 site support plan.
Amemori, Masamitsu; Korhonen, Tellervo; Kinnunen, Taru; Michie, Susan; Murtomaa, Heikki
2011-02-14
Tobacco use adversely affects oral health. Tobacco use prevention and cessation (TUPAC) counselling guidelines recommend that healthcare providers ask about each patient's tobacco use, assess the patient's readiness and willingness to stop, document tobacco use habits, advise the patient to stop, assist and help in quitting, and arrange monitoring of progress at follow-up appointments. Adherence to such guidelines, especially among dental providers, is poor. To improve guideline implementation, it is essential to understand factors influencing it and find effective ways to influence those factors. The aim of the present study protocol is to introduce a theory-based approach to diagnose implementation difficulties of TUPAC counselling guidelines among dental providers. Theories of behaviour change have been used to identify key theoretical domains relevant to the behaviours of healthcare providers involved in implementing clinical guidelines. These theoretical domains will inform the development of a questionnaire aimed at assessing the implementation of the TUPAC counselling guidelines among Finnish municipal dental providers. Specific items will be drawn from the guidelines and the literature on TUPAC studies. After identifying potential implementation difficulties, we will design two interventions using theories of behaviour change to link them with relevant behaviour change techniques aiming to improve guideline adherence. For assessing the implementation of TUPAC guidelines, the electronic dental record audit and self-reported questionnaires will be used. To improve guideline adherence, the theoretical-domains approach could provide a comprehensive basis for assessing implementation difficulties, as well as designing and evaluating interventions. After having identified implementation difficulties, we will design and test two interventions to enhance TUPAC guideline adherence. Using the cluster randomised controlled design, we aim to provide further evidence on
Directory of Open Access Journals (Sweden)
Michie Susan
2011-02-01
Full Text Available Abstract Background Tobacco use adversely affects oral health. Tobacco use prevention and cessation (TUPAC counselling guidelines recommend that healthcare providers ask about each patient's tobacco use, assess the patient's readiness and willingness to stop, document tobacco use habits, advise the patient to stop, assist and help in quitting, and arrange monitoring of progress at follow-up appointments. Adherence to such guidelines, especially among dental providers, is poor. To improve guideline implementation, it is essential to understand factors influencing it and find effective ways to influence those factors. The aim of the present study protocol is to introduce a theory-based approach to diagnose implementation difficulties of TUPAC counselling guidelines among dental providers. Methods Theories of behaviour change have been used to identify key theoretical domains relevant to the behaviours of healthcare providers involved in implementing clinical guidelines. These theoretical domains will inform the development of a questionnaire aimed at assessing the implementation of the TUPAC counselling guidelines among Finnish municipal dental providers. Specific items will be drawn from the guidelines and the literature on TUPAC studies. After identifying potential implementation difficulties, we will design two interventions using theories of behaviour change to link them with relevant behaviour change techniques aiming to improve guideline adherence. For assessing the implementation of TUPAC guidelines, the electronic dental record audit and self-reported questionnaires will be used. Discussion To improve guideline adherence, the theoretical-domains approach could provide a comprehensive basis for assessing implementation difficulties, as well as designing and evaluating interventions. After having identified implementation difficulties, we will design and test two interventions to enhance TUPAC guideline adherence. Using the cluster
Yeo, Lay See; Tan, Soo Yin; Neihart, Maureen F.
2012-01-01
Singapore, a tiny island nation, rose from 3rd- to 1st-world status in just 3 decades. Unlike in most developed countries, counseling in Singapore has a short history with faith-based beginnings and currently faces challenges to remain culturally relevant. The authors trace the development of Singapore's counseling services, provide an update…
Counseling in Turkey: An Evolving Field
Stockton, Rex; Guneri, Oya Yerin
2011-01-01
This article provides a brief history of counseling and addresses the current issues and future trends of counseling in Turkey. Special emphasis is placed on the factors that impede the development of school counseling as a discipline.
24 CFR 904.105 - Counseling of homebuyers.
2010-04-01
... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Counseling of homebuyers. 904.105... DEVELOPMENT LOW RENT HOUSING HOMEOWNERSHIP OPPORTUNITIES Turnkey III Program Description § 904.105 Counseling of homebuyers. The LHA shall provide counseling and training as provided in subpart C of this part...
Stump, Tammy K; Aspinwall, Lisa G; Kohlmann, Wendy; Champine, Marjan; Hauglid, Jamie; Wu, Yelena P; Scott, Emily; Cassidy, Pamela; Leachman, Sancy A
2018-01-19
Genetic testing of minors is advised only for conditions in which benefits of early intervention outweigh potential psychological harms. This study investigated whether genetic counseling and test reporting for the CDKN2A/p16 mutation, which confers highly elevated melanoma risk, improved sun protection without inducing distress. Eighteen minors (M age = 12.4, SD = 1.9) from melanoma-prone families completed measures of protective behavior and distress at baseline, 1 week (distress only), 1 month, and 1 year following test disclosure. Participants and their mothers were individually interviewed on the psychological and behavioral impact of genetic testing 1 month and 1 year post-disclosure. Carriers (n = 9) and noncarriers (n = 9) reported significantly fewer sunburns and a greater proportion reported sun protection adherence between baseline and 1 year post-disclosure; results did not vary by mutation status. Anxiety symptoms remained low post-disclosure, while depressive symptoms and cancer worry decreased. Child and parent interviews corroborated these findings. Mothers indicated that genetic testing was beneficial (100%) because it promoted risk awareness (90.9%) and sun protection (81.8%) without making their children scared (89.9%); several noted their child's greater independent practice of sun protection (45.4%). In this small initial study, minors undergoing CDKN2A/p16 genetic testing reported behavioral improvements and consistently low distress, suggesting such testing may be safely implemented early in life, allowing greater opportunity for risk-reducing lifestyle changes.
A Framework for Chaos Theory Career Counselling
Pryor, Robert G. L.
2010-01-01
Theory in career development counselling provides a map that counsellors can use to understand and structure the career counselling process. It also provides a means to communicate this understanding and structuring to their clients as part of the counselling intervention. The chaos theory of careers draws attention to the complexity,…
Directory of Open Access Journals (Sweden)
Jessica A Hill
Full Text Available Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills.The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire.Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions.A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.
Hill, Jessica A; Lee, Su Yeon; Njambi, Lucy; Corson, Timothy W; Dimaras, Helen
2015-01-01
Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills. The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire. Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions. A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.
Evers-Kiebooms, G; Welkenhuysen, M; Claes, E; Decruyenaere, M; Denayer, L
2000-09-01
Increasing knowledge about the human genome has resulted in the availability of a steadily increasing number of predictive DNA-tests for two major categories of diseases: neurogenetic diseases and hereditary cancers. The psychological complexity of predictive testing for these late onset diseases requires careful consideration. It is the main aim of the present paper to describe this psychological complexity, which necessitates an adequate and systematic multidisciplinary approach, including psychological counselling, as well as ongoing education of professionals and of the general public. Predictive testing for neurogenetic diseases--in an adequate counselling context--so far elicits optimism regarding the short- and mid-term impact of the predictive test result. The psychosocial impact has been most widely studied for Huntington's disease. Longitudinal studies are of the utmost importance in evaluating the long-term impact of predictive testing for neurogenetic diseases on the tested person and his/her family. Given the more recent experience with predictive DNA-testing for hereditary cancers, fewer published scientific data are available. Longitudinal research on the mid- and long-term psychological impact of the predictive test result is essential. Decision making regarding health surveillance or preventive surgery after being detected as a carrier of one of the relevant mutations should receive special attention. Tailoring the professional approach--inside and outside genetic centres--to the families' needs is a continuous challenge. Even if a continuous effort is made, several important questions remain unanswered, last but not least the question regarding the best strategy to guarantee that the availability of predictive genetic testing results in a reduction of suffering caused by genetic disease and in an improvement of the quality of life of families confronted with genetic disease.
Caruso, Anita; Vigna, Cristina; Maggi, Gabriella; Sega, Fabio Massimo; Cognetti, Francesco; Savarese, Antonella
2008-11-24
Oncogenetic counselling is seldom followed through, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: risk perception, expected benefit or limitations of genetic testing, general psychological distress or cancer-specific distress, lack of trust in one's emotional reactions when faced with negative events, expected level of family support and communications within the family. The aim of this study was to describe the psychosocial variables of an Italian sample that forgoes genetic counselling. From May 2002 to December 2006 a psychological questionnaire was sent out to one hundred and six subjects, who freely requested a first genetic informative consultation, and never asked to have a second visit and the family tree drawn up in order to inquire about their eligibility for genetic testing. Statistical analysis was performed by Pearson chi-square test, t-test and Spearman RHO coefficient. The survey presents a lack of emotional cohesion and structured roles and rules within the family system and a positive correlation between the number of children, anxiety and risk perception. The main reasons for giving up on counselling were a sense that testing was a waste of time and the inability to emotionally handle the negative consequences of the test outcome. The subjects who maintained that test and an early diagnosis were a "waste of time" experienced more anxiety. The study revealed the importance to ac knowledging the whole persona and their family system as well as provide information highlighting usefulness of early diagnosis.
Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?
Geransar, Rose; Einsiedel, Edna
2008-03-01
Commercialization of genetic technologies is expanding the horizons for the marketing and sales of genetic tests direct-to-consumers (DTCs). This study assesses the information provision and access requirements that are in place for genetic tests that are being advertised DTC over the Internet. Sets of key words specific to DTC genetic testing were entered into popular Internet search engines to generate a list of 24 companies engaging in DTC advertising. Company requirements for physician mediation, genetic counseling arrangements, and information provision were coded to develop categories for quantitative analysis within each variable. Results showed that companies offering risk assessment and diagnostic testing were most likely to require that testing be mediated by a clinician, and to recommend physician-arranged counseling. Companies offering enhancement testing were less likely to require physician mediation of services and more likely to provide long-distance genetic counseling. DTC advertisements often provided information on disease etiology; this was most common in the case of multifactorial diseases. The majority of companies cited outside sources to support the validity of claims about clinical utility of the tests being advertised; companies offering risk assessment tests most frequently cited all information sources. DTC advertising for genetic tests that lack independent professional oversight raises troubling questions about appropriate use and interpretation of these tests by consumers and carries implications for the standards of patient care. These implications are discussed in the context of a public healthcare system.
Psychological counselling and indigenous African knowledge ...
African Journals Online (AJOL)
Psychological counselling relates to basic humanity and universal values such as the regard for human dignity, healthy socialisation, and emotional health. Counselling individuals who experience emotional or relational problems is a function of the helping and health care professions. Effective counselling should provide ...
Genetic and epigenetic factors: Role in male infertility
Directory of Open Access Journals (Sweden)
M B Shamsi
2011-01-01
Full Text Available Genetic factors contribute upto 15%-30% cases of male infertility. Formation of spermatozoa occurs in a sequential manner with mitotic, meiotic, and postmeiotic differentiation phases each of which is controlled by an intricate genetic program. Genes control a variety of physiologic processes, such as hypothalamus-pituitary-gonadal axis, germ cell development, and differentiation. In the era of assisted reproduction technology, it is important to understand the genetic basis of infertility to provide maximum adapted therapeutics and counseling to the couple.
Hasenbring, Monika I; Kreddig, Nina; Deges, Gabriele; Epplen, Joerg T; Kunstmann, Erdmute; Stemmler, Susanne; Schulmann, Karsten; Willert, Joerg; Schmiegel, Wolf
2011-04-01
We prospectively examined the impact of an initial interdisciplinary genetic counseling (human geneticist, oncologist, and psycho-oncologist) on feelings of anxiety with a special focus on subgroups related to personal cancer history, gender, age, and education. At baseline, cancer-affected men revealed a significantly higher level of anxiety than unaffected men (pDepression Scale-A cases can be predicted by general distress (Brief Symptom Inventory) as well as by hereditary nonpolyposis colorectal cancer-related cognitions of intrusion and avoidance (impact of event scale) with a correct classification of 86%. Although initial hereditary nonpolyposis colorectal cancer counseling leads to an overall reduction of anxiety, differential effects of cancer history, gender, and age focus on subgroups of cancer-affected men, who may display unexpectedly high anxiety scores at baseline. Especially younger men do not seem to reduce this high anxiety level. Baseline anxiety was mainly determined by maladaptive situation-specific cognitions. Therefore, consulters should be more aware of anxiety-related cognitions in cancer-affected younger men.
24 CFR 214.300 - Counseling services.
2010-04-01
... to provide specified types of counseling nationally. (6) All participating agencies that offer group educational sessions must also offer individual counseling on the same topics covered in the group educational... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Counseling services. 214.300...
15 CFR 0.735-38 - Availability for counseling.
2010-01-01
... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Availability for counseling. 0.735-38... AND CONDUCT Administration § 0.735-38 Availability for counseling. (a) The General Counsel of the... part; and (3) Coordinate the counseling services provided under this part and assure that counseling...
Exercise as a Counseling Intervention.
Okonski, Verna O.
2003-01-01
The focus of wellness counseling is to guide individuals to live a healthy life in which body, mind, and spirit are integrated in order to experience fulfillment and happiness. The purpose of this article is to provide counselors steps to follow when using exercise as a counseling intervention and to provide techniques that will encourage exercise…
[Issues on business of genetic testing in near future].
Takada, Fumio
2009-06-01
Since 1990's, a business condition that company sells genetic testing services directly to consumers without through medical facility, so called "direct-to-consumers (DTC) genetic testing", has risen. They provide genetic testing for obesity, disease susceptibility or paternity, etc. There are serious problems in this kind of business. Most of the providers do not make sales with face-to-face selling, and do through internet instead. They do not provide genetic counseling by certified genetic counselor or clinical geneticist. Most DTC genetic testing services for disease susceptibility or predispositions including obesity, lack scientific validity, clinical validity and clinical utility. And also including paternity genetic testing, they all have risks of ethical legal and social issues (ELSI) in genetic discrimination and/or eugenics. The specific problem in Japan is that the healthcare section of the government still has not paid attention and not taken seriously the requirement to deploy safety net.
Evaluation of a nurse-led haemophilia counselling service.
LENUS (Irish Health Repository)
O'Shea, Eadaoln
2012-01-01
Genetic counselling and testing for females with a family history of haemophilia has long been advocated. However, there is little research in regard to clients\\' satisfaction with the existing counselling models in haemophilia, and in particular with nurse-led clinics. The purpose of this study was to evaluate whether clients were satisfied with a nurse-led carrier testing clinic and counselling service. A retrospective quantitative study of clients\\' satisfaction and perceived knowledge was undertaken using an anonymous questionnaire. A sample of 42 women who had attended the clinic in the last 12 months was identified. The response rate for the study was 71% (n = 30).Two thirds of the respondents were 35 years of age or younger, 93% had a family history of haemophilia and 56% were diagnosed as carriers. Perceived understanding and knowledge increased significantly between the first and second appointments (p < 0.001). Overall, the study identified a high level of client satisfaction with the nurse-led carrier testing clinic and counselling service.
Publishing International Counseling Articles
Hohenshil, Thomas H.; Amundson, Norman E.
2011-01-01
This article begins with a rationale for including international articles in the "Journal of Counseling & Development." Then, 2 general categories of international articles are described. First are articles that provide a general overview of counseling in a particular country. The 2nd category is more general and might involve international…
The perceived impact of the European registration system for genetic counsellors and nurses.
Paneque, Milena; Moldovan, Ramona; Cordier, Christophe; Serra-Juhé, Clara; Feroce, Irene; Pasalodos, Sara; Haquet, Emmanuelle; Lambert, Debby; Bjørnevoll, Inga; Skirton, Heather
2017-09-01
The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013. A cross-sectional, online survey was used to explore the motivations and experiences of those applying for, and the effect of registration on their career. Fifty-five Genetic Nurses and Counsellors are registered till now, from them, thirty-three agreed to participate on this study. The main motivations for registering were for recognition of their work value and competence (30.3%); due to the absence of a registration system in their own country (15.2%) and the possibility of obtaining a European/international certification (27.3%), while 27.3% of respondents registered to support recognition of the genetic counselling profession. Some participants valued the registration process as an educational activity in its own right, while the majority indicated the greatest impact of the registration process was on their clinical practice. The results confirm that registrants value the opportunity to both confirm their own competence and advance the genetic counselling profession in Europe.
Directory of Open Access Journals (Sweden)
Yong-Lin Foo
2015-08-01
Full Text Available This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries.
Anxiety and depression among subjects attending genetic counseling for hereditary cancer.
Bjorvatn, Cathrine; Eide, Geir Egil; Hanestad, Berit R; Havik, Odd E
2008-05-01
The main aims of the study were to investigate changes in anxiety and depression over time in subjects attending genetic counseling (GC) for hereditary cancer, and secondly, to identify psychological, social, and medical variables associated with the course and outcome of anxiety and depression. Of 275 eligible individuals, 221 consented to participate, 214 returned the baseline questionnaire, and were included in a prospective multi-center study. Questionnaires were mailed to the subjects before and after the GC. The mean values for anxiety and depression were quite low at all assessments. Mixed linear analyzes revealed that both anxiety and depression declined over time. Higher age, GC-related self-efficacy, and social support were associated with lower levels of anxiety. More social support, satisfaction with GC, self-rated physical function, and GC-related self-efficacy were associated with lower levels of depression. The effects of social support on both anxiety and depression had a significant interaction with time. The results support the buffer theory, which proposes that social support acts as a buffer, protecting people from the potentially pathogenic influence of stressful life events, such as GC. Subjects with less social support and less GC-related self-efficacy seem to be more vulnerable to anxiety and depression and should be offered extra attention by counselors.
Directory of Open Access Journals (Sweden)
Cognetti Francesco
2008-11-01
Full Text Available Abstract Background Oncogenetic counselling is seldom followed through, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: risk perception, expected benefit or limitations of genetic testing, general psychological distress or cancer-specific distress, lack of trust in one's emotional reactions when faced with negative events, expected level of family support and communications within the family. The aim of this study was to describe the psychosocial variables of an Italian sample that forgoes genetic counselling. Methods From May 2002 to December 2006 a psychological questionnaire was sent out to one hundred and six subjects, who freely requested a first genetic informative consultation, and never asked to have a second visit and the family tree drawn up in order to inquire about their eligibility for genetic testing. Statistical analysis was performed by Pearson chi-square test, t-test and Spearman RHO coefficient. Results The survey presents a lack of emotional cohesion and structured roles and rules within the family system and a positive correlation between the number of children, anxiety and risk perception. The main reasons for giving up on counselling were a sense that testing was a waste of time and the inability to emotionally handle the negative consequences of the test outcome. The subjects who maintained that test and an early diagnosis were a "waste of time" experienced more anxiety. Conclusion The study revealed the importance to ac knowledging the whole persona and their family system as well as provide information highlighting usefulness of early diagnosis.
de Lau, Hinke; Depmann, Martine; Laeven, Yvo J M; Stoutenbeek, Philip H; Pistorius, Lou R; van Beek, Erik; Schuitemaker, Nico W E
2013-01-01
To compare group counselling to individual counselling with respect to the second trimester ultrasound. A prospective cohort study at two hospitals. At one hospital, 100 pregnant women were counselled on the risks and benefits of the second trimester ultrasound in groups of up to 15 patients. Shortly before the ultrasound they were asked to fill out a questionnaire. Results were compared to 100 women who were counselled individually at another hospital. The primary outcome was the level of informed choice whether or not to undergo the ultrasound, defined as sufficient knowledge and a value-consistent decision. The secondary outcome measures were level of understanding of the second trimester ultrasound and the degree of satisfaction with the counselling. The resulting level of informed choice was 87.0% after group counselling compared to 79.4% after individual counselling (p = 0.47). The mean knowledge score was 8.8 for the women who attended group counselling; women who were individually counselled had a mean score of 7.4 (p counselling was 7.0 for group counselling and 6.2 for individual counselling (p group counselling was associated with higher post-counselling knowledge and satisfaction scores. Group counselling should therefore be considered as an alternative counselling method.
Gouse, H; Robbins, R N; Mellins, C A; Kingon, A; Rowe, J; Henry, M; Remien, R H; Pearson, A; Victor, F; Joska, J A
2018-05-19
Lay-counsellors in resource-limited settings convey critical HIV- and ART-information, and face challenges including limited training and variable application of counselling. This study explored lay-counsellors and Department of Health (DoH) perspectives on the utility of a multimedia adherence counselling program. Masivukeni, an mHealth application that provides scaffolding for delivering standardized ART counselling was used in a 3-year randomized control trail at two primary health care clinics in Cape Town, South Africa. In this programmatic and descriptive narrative report, we describe the application; lay-counsellors' response to open-ended questions regarding their experience with using Masivukeni; and perspectives of the City of Cape Town and Western Cape Government DoH, obtained through ongoing engagements and feedback sessions. Counsellors reported Masivukeni empowered them to provide high quality counselling. DoH indicated strong support for a future implementation study assessing feasibility for larger scale roll-out. Masivukeni has potential as a counselling tool in resource-limited settings.
Genetic counseling in monogenic diabetes GCK MODY.
Skała-Zamorowska, Eliza; Deja, Grażyna; Borowiec, Maciej; Fendler, Wojciech; Małachowska, Beata; Kamińska, Halla; Młynarski, Wojciech; Jarosz-Chobot, Przemysława
2016-01-01
Genetic testing in families with monogenic GCK MODY has predictive, diagnostic, and preventive utility. Predictive tests relate to people who have no features of the disorder themselves at the time of testing. Diagnostic tests relate to family members who have been previously diagnosed with diabetes mellitus or glucose metabolism disturbances. The preventive value of genetic testing for families is to raise awareness of the circumstances leading to glucose metabolism disorders. The detection of mutation carriers among family members of patients with GCK MODY and the determination of the clinical significance of the genetic test result. The study group included 27 families of adolescent patients with GCK MODY (39 (75%) of parents and 19 (73.08%) of siblings) monitored in the Department of Pediatrics, Endocrinology and Diabetes and in the Diabetes Clinic of John Paul II Upper Silesian Child Health Centre in Katowice in the years 2007-2012. Subjects underwent a blood sample drawing for genetic and biochemical testing. Through the genetic diagnostics we diagnosed GCK MODY in 14 (63.64%) mothers, 6 (35.29%) fathers and in 7 (36,84%) siblings. Genetic testing has contributed to the detection of 7 (26.92%) asymptomatic carriers of GCK gene mutation among parents and 3 (15,79%) asymptomatic carriers among siblings declaring no carbohydrate metabolism disturbances (before genetic testing there were no indications suggesting carbohydrate metabolism disturbances; OGTT were performed after positive genetic testing). Each case of mutation detection, which is the cause of monogenic diabetes in a patient, justifies the genetic testing in other members of his/her family. Awareness of the genetic status may allow sick family member to confirm the diagnosis, while asymptomatic mutation carriers could benefit from an early clinical observation. Consequently, in each case it gives an opportunity to take diagnostic and therapeutic measures in accordance with the current state of
Kierkegaard's Philosophy: Implications for Counseling.
Dopson, Lorraine; Gade, Eldon
1981-01-01
Discusses how the philosophy of Soren Kierkegaard can provide useful guidelines for the study of the counseling process. Compares Kierkegaard's philosophy with selected contributions of Freud, Skinner, Rogers, and May and with four common themes of counseling and psychotherapy. (Author)
Preliminary program evaluation of emergency department HIV prevention counseling.
Sitlinger, Andrea P; Lindsell, Christopher J; Ruffner, Andrew H; Wayne, D Beth; Hart, Kimberly W; Trott, Alexander T; Fichtenbaum, Carl J; Lyons, Michael S
2011-07-01
Controversy surrounds the linkage of prevention counseling with emergency department (ED)-based HIV testing. Further, the effectiveness and feasibility of prevention counseling in the ED setting is unknown. We investigate these issues by conducting a preliminarily exploration of several related aspects of our ED's HIV prevention counseling and testing program. Our urban, academic ED provides formal client-centered prevention counseling in conjunction with HIV testing. Five descriptive, exploratory observations were conducted, involving surveys and analysis of electronic medical records and programmatic data focused on (1) patient perception and feasibility of prevention counseling in the ED, (2) patient perceptions of the need to link prevention counseling with testing, and (3) potential effectiveness of providing prevention counseling in conjunction with ED-based HIV testing. Of 110 ED patients surveyed after prevention counseling and testing, 98% believed privacy was adequate, and 97% reported that their questions were answered. Patients stated that counseling would lead to improved health (80%), behavioral changes (72%), follow-up testing (77%), and discussion with partners (74%). However, 89% would accept testing without counseling, 32% were willing to seek counseling elsewhere, and 26% preferred not to receive the counseling. Correct responses to a 16-question knowledge quiz increased by 1.6 after counseling (95% confidence interval 1.3 to 12.0). The program completed counseling for 97% of patients tested; however, 6% of patients had difficulty recalling the encounter and 13% denied received testing. Among patients undergoing repeated testing, there was no consistent change in self-reported risk behaviors. Participants in the ED prevention counseling and testing program considered counseling acceptable and useful, though not required. Given adequate resources, prevention counseling can be provided in the ED, but it is unlikely that all patients benefit
Primary care providers' lived experiences of genetics in practice.
Harding, Brittany; Webber, Colleen; Ruhland, Lucia; Dalgarno, Nancy; Armour, Christine M; Birtwhistle, Richard; Brown, Glenn; Carroll, June C; Flavin, Michael; Phillips, Susan; MacKenzie, Jennifer J
2018-04-26
To effectively translate genetic advances into practice, engagement of primary care providers (PCPs) is essential. Using a qualitative, phenomenological methodology, we analyzed key informant interviews and focus groups designed to explore perspectives of urban and rural PCPs. PCPs endorsed a responsibility to integrate genetics into their practices and expected advances in genetic medicine to expand. However, PCPs reported limited knowledge and difficulties accessing resources, experts, and continuing education. Rural practitioners' additional concerns included cost, distance, and poor patient engagement. PCPs' perspectives are crucial to develop relevant educational and systems-based interventions to further expand genetic medicine in primary care.
Genetic Testing: MedlinePlus Health Topic
... Your Family's Health (National Institutes of Health) - PDF Topic Image MedlinePlus Email Updates Get Genetic Testing updates ... testing and your cancer risk Karyotyping Related Health Topics Birth Defects Genetic Counseling Genetic Disorders Newborn Screening ...
Professional Counseling in Taiwan: Past to Future
Guo, Yuh-Jen; Wang, Shu-Ching; Combs, Don C.; Lin, Yi-Chun; Johnson, Veronica
2013-01-01
Because of the recent introduction of a licensure law, professional counseling has grown rapidly in Taiwan after decades of slow development. The authors provide a historical review of the development of professional counseling in Taiwan and discuss the current status and future trajectory of professional counseling in Taiwan.
Alnaqeb, Dhekra; Hamamy, Hanan; Youssef, Amira M; Al-Rubeaan, Khalid
2018-01-01
This study aimed to assess knowledge, attitude and practice related to consanguinity among multiethnic health care providers in the Kingdom of Saudi Arabia. Using a cross-sectional study design, a validated, self-administered close-ended questionnaire was randomly distributed to health care providers in different health institutions in the country between 1st August 2012 and 31st July 2013. A total of 1235 health care providers completed the study questionnaire. Of the 892 married participants (72.23% of total), 11.43% were married to a first cousin, and were predominantly Arabs, younger than 40 years and male. Only 17.80% of the patients seen by the health care providers requested consanguinity related counselling. A knowledge barrier was expressed by 27.49% of the participants, and 85.67% indicated their willingness to have more training in basic genetic counselling. A language barrier was expressed as a limiting factor to counselling for consanguinity among non-Arabs. The health care providers had a major dearth of knowledge that was reflected in their attitude and practice towards consanguinity counselling. This finding indicates the need for more undergraduate and postgraduate medical and nursing education and training in the counselling of consanguineous couples. It is recommended that consanguinity counselling is included in the current premarital screening and counselling programmes in the Kingdom.
Liebling, H; Davidson, L; Akello, G F; Ochola, G
Previous research in northern Uganda found high levels of trauma-related difficulties amongst the conflict-affected population. There is international evidence that psychological therapy can reduce depression, as one of the psychological effects of trauma, but very limited literature regarding the experiences of trauma counselling in Sub-Saharan Africa. The current British Academy and Leverhulme-funded research investigated the experiences of service users and providers of trauma services in Kitgum and Gulu, northern Uganda. It also examined their implications for mental health policy and legislation. A decision was made to utilise qualitative methodology to highlight the in-depth experiences of participants. The researcher's carried out interviews with 10 women and 10 men survivors attending trauma services in Kitgum and Gulu. The researchers also interviewed 15 key informants in Kitgum, Gulu and Kampala including trauma counselling service providers, ministers, cultural leaders and mental health professionals. The authors report the findings of the research based on thematic analysis of the interviews. Themes included the experiences of survivors, bearing witness and instilling hope, constraints to service provision, stigma and abuse, holistic approach, service providers doing their best, specialist populations, limited understanding, training and skills development, gaps in service provision and mental health policy and legislation. The interviews resulted in a clear indication that counselling and medication was valued by service users, and that service providers felt the treatments that were provided improved depression, and increased empowerment and engagement in social activities. However, the authors argue that there was a limit to the benefits that could be achieved without using the holistic approach that the survivors requested. Thus, in cases of trauma arising from conflict, there is a clear need for the state to ensure reparation and/or justice for the
Mindfulness-Based Interventions in Counseling
Brown, Amanda P.; Marquis, Andre; Guiffrida, Douglas A.
2013-01-01
Mindfulness is a relatively new construct in counseling that is rapidly gaining interest as it is applied to people struggling with a myriad of problems. Research has consistently demonstrated that counseling interventions using mindfulness improve well-being and reduce psychopathology. This article provides a detailed definition of mindfulness,…
Restating a Client-Centered Approach to Career Counseling.
Miller, Mark J.
1988-01-01
Asserts career counseling too often is associated with objective test scores and rational decision making. Reiterates the importance of considering the client's developing self-concept in career counseling. Provides sample client centered career counseling session. (Author/ABL)
Directory of Open Access Journals (Sweden)
Sibanda Euphemia L
2012-05-01
Full Text Available Abstract Background Provider-initiated HIV testing and counselling (PITC is widely recommended to ensure timely treatment of HIV. The Zimbabwe Ministry of Health introduced PITC in 2007. We aimed to evaluate institutional capacity to implement PITC and investigate patient and health care worker (HCW perceptions of the PITC programme. Methods Purposive selection of health care institutions was conducted among those providing PITC. Study procedures included 1 assessment of implementation procedures and institutional capacity using a semi-structured questionnaire; 2 in-depth interviews with patients who had been offered HIV testing to explore perceptions of PITC, 3 Focus group discussions with HCW to explore views on PITC. Qualitative data was analysed according to Framework Analysis. Results Sixteen health care institutions were selected (two central, two provincial, six district hospitals; and six primary care clinics. All institutions at least offered PITC in part. The main challenges which prevented optimum implementation were shortages of staff trained in PITC, HIV rapid testing and counselling; shortages of appropriate counselling space, and, at the time of assessment, shortages of HIV test kits. Both health care workers and patients embraced PITC because they had noticed that it had saved lives through early detection and treatment of HIV. Although health care workers reported an increase in workload as a result of PITC, they felt this was offset by the reduced number of HIV-related admissions and satisfaction of working with healthier clients. Conclusion PITC has been embraced by patients and health care workers as a life-saving intervention. There is need to address shortages in material, human and structural resources to ensure optimum implementation.
Kinney, A Y; DeVellis, B M; Skrzynia, C; Millikan, R
2001-01-01
Colorectal carcinoma (CRC) may be the most frequent form of hereditary cancer. Genetic counseling and testing for heritable CRC is a promising approach for reducing the high incidence and mortality rates associated with the disease. Patients with CRC or those with at least one family member with the disease are the most likely persons to request or be offered genetic testing in the clinical or research setting. Currently, however, little is known about the behavioral, psychosocial, ethical, legal, and economic outcomes of CRC genetic counseling and testing. Eight focus group interviews, four for CRC patients (n = 28) and four for first-degree relatives (n = 33), were conducted to obtain insights into attitudes, beliefs, and informational needs about genetic testing for hereditary CRC. Focus group interviews revealed a general lack of knowledge about cancer genetics and genetic testing; worry about confidentiality issues; strong concern for family members, particularly children; and a need for primary care providers to be informed about these issues. Major perceived advantages of genetic testing included improving health-related decisions, guiding physicians in making recommendations for surveillance, and informing relatives about risk potential. Disadvantages included potential discrimination, adverse psychologic effects, and financial costs associated with testing. As knowledge and media coverage of genetics continue to expand, it becomes increasingly important to continue efforts on behalf of, and in partnership with, those individuals most affected by genetic testing for hereditary cancer syndromes. These findings provide data needed to develop and implement informational, educational, counseling, and research-oriented programs that are sensitive to individuals' concerns and preferences. Copyright 2001 American Cancer Society.
Asgary, Ramin; Grigoryan, Zoya; Naderi, Ramesh; Allan, Richard
2012-01-01
Effectiveness of providing health education solely via mass media and the providers' targeted training in malaria control needs further exploration. During pre-epidemic season, we conducted a qualitative study of 40 providers and community leaders using focus groups, comprehensive semi-structured interviews and consultation observations. Interviews were transcribed, coded and analysed for major themes. Community leaders believe that they can acquire malaria from contaminated water, animal products, air or garbage. Consequently, they under-utilise bed nets and other protective measures due to perceived continued exposure to other potential malaria sources. Practitioners do not provide individualised health counselling and risk assessment to patients during sick visits, leading to a range of misconceptions about malaria based on limited knowledge from rumours and mass media, and a strong belief in the curative power of traditional medicine. Providers overdiagnose malaria clinically and underutilise available tests due to time constraints, and the lack of training and resources to correctly diagnose other illnesses. Subsequently, misdiagnoses lead them to question the efficacy of recommended treatments. Promoting counselling during clinical encounters to address patient misconception and change risky behaviour is warranted. Wider-ranging ongoing training could enable providers to properly diagnose and manage differential diagnoses to manage malaria better.
Foo, Yong-Lin; Chow, Julie Chi; Lai, Ming-Chi; Tsai, Wen-Hui; Tung, Li-Chen; Kuo, Mei-Chin; Lin, Shio-Jean
2015-08-01
This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries. Copyright © 2014. Published by Elsevier B.V.
Goetsch, Allison L; Wicklund, Catherine; Clayman, Marla L; Woodruff, Teresa K
2016-06-01
Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists' (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.
Goetsch, Allison L.; Wicklund, Catherine; Clayman, Marla L.; Woodruff, Teresa K.
2016-01-01
Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies. PMID:26567039
Ancestry Testing and the Practice of Genetic Counseling.
Kirkpatrick, Brianne E; Rashkin, Misha D
2017-02-01
Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically. Roles of the genetic counselor may include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with testing. This paper reviews the history, fundamentals, intended uses, and unintended consequences of ancestry genetic testing. It also discusses the types of information in an ancestry testing result, situations that might involve a clinical genetic counselor, and the benefits, limitations, and functions that ancestry genetic testing can play in a clinical genetics setting.
Great aspirations: the postwar American college counseling center.
McCarthy, Tom
2014-02-01
In the decade after World War II, psychologists, eager to bring the benefits of counseling to larger numbers, convinced hundreds of American colleges and universities to establish counseling centers. Inspired by the educational-vocational counseling center founded by psychologists at the University of Minnesota in 1932, Carl R. Rogers's "client-centered" methods of personal adjustment counseling, and the 400-plus college counseling centers created by the Veterans Administration to provide the educational-vocational counseling benefit promised to returning World War II servicemen under the 1944 GI Bill, these counseling psychologists created a new place to practice where important currents in psychology, higher education, and federal policy converged and where they attempted to integrate educational-vocational counseling with personal adjustment counseling based on techniques from psychotherapy. By the mid-1960s, half of America's colleges and universities had established counseling centers, and more than 90% offered students educational, vocational, and psychological counseling services, a great achievement of the first generation of counseling psychologists.
Adlerian Counseling for Parent Education.
Piercy, Fred P.
The helping professions must aid parents in understanding their children and in providing parents with methods to improve family relationships. Adlerian counseling is presented as one potentially useful method of reaching this goal. The basic principles and democratic philosophy of Adlerian counseling are outlined, and emphasis is placed on the…
School Counseling in China Today
Thomason, Timothy C.; Qiong, Xiao
2008-01-01
This article provides a brief overview of the development of psychological thinking in China and social influences on the practice of school counseling today. Common problems of students are described, including anxiety due to pressure to perform well on exams, loneliness and social discomfort, and video game addiction. Counseling approaches used…
Joseph, Galen; Beattie, Mary S; Lee, Robin; Braithwaite, Dejana; Wilcox, Carolina; Metrikin, Maya; Lamvik, Kate; Luce, Judith
2010-10-01
The Cancer Risk Education Intervention Tool (CREdIT) is a computer-based (non-interactive) slide presentation designed to educate low-literacy, and ethnically and racially diverse public hospital patients at risk of Hereditary Breast and Ovarian Cancer (HBOC) about genetics. To qualitatively evaluate participants' experience with and perceptions of a genetic education program as an adjunct to genetic counseling, we conducted direct observations of the intervention, semi-structured in person interviews with 11 women who viewed CREdIT, and post-counseling questionnaires with the two participating genetic counselors. Five themes emerged from the analysis of interviews: (1) genetic counseling and testing for breast/ovarian cancer was a new concept; (2) CREdIT's story format was particularly appealing; (3) changes in participants' perceived risk for breast cancer varied; (4) some misunderstandings about individual risk and heredity persisted after CREdIT and counseling; (5) the context for viewing CREdIT shaped responses to the presentation. Observations demonstrated ways to make the information provided in CREdIT and by genetic counselors more consistent. In a post-session counselor questionnaire, counselors' rating of the patient's preparedness before the session was significantly higher for patients who viewed CREdIT prior to their appointments than for other patients. This novel educational tool fills a gap in HBOC education by tailoring information to women of lower literacy and diverse ethnic/racial backgrounds. The tool was well received by interview participants and counselors alike. Further study is needed to examine the varied effects of CREdIT on risk perception. In addition, the implementation of CREdIT in diverse clinical settings and the cultural adaptation of CREdIT to specific populations reflect important areas for future work.
Genetic counseling about cancer in Peru
Manrique, Javier E.; Dirección de Promoción de la Salud, Prevención y Control Nacional del Cáncer, Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú. Cirujano oncólogo.; Sullcahuamán-Allende, Yasser; Unidad de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú. médico genetista.; Limache-García, Abel; Dirección de Promoción de la Salud, Prevención y Control Nacional del Cáncer, Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú. enfermero.
2014-01-01
Cancer is a genetic disease caused by changes in the DNA sequence or expression. Based on the origin of these changes, cancer can be classified as sporadic, and hereditary or familial. Based on the cancer records in Peru, it is expected that 5 to 30% of all patients with cancer, i.e. about 2,000 to 12,000 people, have hereditary cancer, meaning that a similar number of families have a higher risk of developing cancer compared to the general population. Therefore, the purpose of genetic co...
Legal Counsel | IDRC - International Development Research Centre
International Development Research Centre (IDRC) Digital Library (Canada)
The Legal Counsel assists the Corporate Secretary and General Counsel in advising, and providing support to, Centre management and the Board of Governors on ... This involves providing strategic and tactical advice to, and working as an integral member of, IDRC negotiating teams on particular transactions towards:.
The psychological impact of genetic testing on parents.
Dinc, Leyla; Terzioglu, Fusun
2006-01-01
The aim of this descriptive study was to explore the psychological impact of genetic testing on parents whose children have been referred for genetic testing. Genetic tests enable individuals to be informed about their health status and to have the opportunity of early diagnosis and treatment of their diseases. However undergoing genetic testing and receiving a positive test result may also cause stress and anxiety. This descriptive study was carried out at the genetic departments of two university hospitals in Ankara. The sample of this study consisted of 128 individuals whose children have been referred for chromosomal analysis. Data were collected through using a semi-structured interview method with a data collection form and the anxiety inventory and analysed using the percentages and independent samples t-test. The majority of our participants experienced distress before genetic testing. Their general trait anxiety score before receiving the test results was 47.38, and following the test results the state anxiety score was 50.65. Having a previous child with an abnormality, a positive test result, and being a mother elevated the anxiety of individuals. This paper supports the findings of previous studies, which indicated that genetic test results might lead to anxiety in individuals and reveals the importance of genetic counselling. As the results of this study indicated, genetic testing causes distress and anxiety in individuals. Nurses can play an important role in minimizing anxiety of parents whose children undergo genetic testing by providing information about genetic testing and by taking part in the counselling process.
Genetic Counseling in Military Hospitals
1987-04-01
mother allegedly mistreated for preeclampsia at Tripler Army Medical Center could maintain an action for medical malpractice nothwithstanding Feres.1 2...retardation of unknown etiology in a child; - pregnancy in a woman older than age 35; - specific ethnic background suggestive of a high rate of genetic
Hypopituitarism in Children. Modern Laboratory and Genetic Diagnosis
Directory of Open Access Journals (Sweden)
Ye.V. Hloba
2016-04-01
Full Text Available The lecture presents the current international guidelines on the diagnosis of hypopituitarism in children, in particular the rules of stimulation tests for the diagnosis of growth hormone deficiency, secondary hypogonadism and hypocorticism. It is recommended to use the anti-Müllerian hormone and inhibin B to diagnose different forms of hypogonadism. Genetic methods are also recommended to make a correct diagnosis, to prescribe a proper treatment and to provide a medical and genetic counseling of family members.
Douma, Kirsten F L; Smets, Ellen M A; Allain, Dawn C
2016-04-01
Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to gain insight in their perceptions, attitudes and knowledge. Two publically accessible databases were used to invite NGHPs providing cancer genetic services to complete a questionnaire. The survey assessed: sociodemographic attributes, experience in ordering hereditary cancer genetic testing, attitude, knowledge, perception of communication skills (e.g. information giving, decision-making) and educational needs. Of all respondents (N = 49, response rate 11%), most have a positive view of their own information giving (mean = 53.91, range 13-65) and decision making skills (64-77% depending on topic). NGHPs feel responsible for enabling disease and treatment related behavior (89-91%). However, 20-30% reported difficulties managing patients' emotions and did not see management of long-term emotions as their responsibility. Correct answers on knowledge questions ranged between 41 and 96%. Higher knowledge was associated with more confidence in NGHPs' own communication skills (r(s) = .33, p = 0.03). Although NGHPs have a positive view of their communication skills, they perceive more difficulties managing emotions. The association between less confidence in communication skills and lower knowledge level suggests awareness of knowledge gaps affects confidence. NGHPs might benefit from education about managing client emotions. Further research using observation of actual counselling consultations is needed to investigate the skills of this specific group of providers.
Directory of Open Access Journals (Sweden)
Crsitian Tudose
2007-08-01
Full Text Available : Cleft lip and/or palate are the most frequent facial congenital malformations and represent a dramatic situation at birth, which involves important functional, aesthetic, psychological and social impairment that motivates the necessity of a thorough genetic study in the view of genetic counselling. We have studied the families of 100 children with clefts born during the years 1985-1996 in Suceava county and selected from the evidences of the Children Hospital Suceava. The recurrence risk was determined in accordance with the rules of calculation for multifactorial inheritance; it varied between 2 – 5% for the majority of cases (77% which corresponds to a small risk degree; only in 23% of cases the risk varied between 6 – 15% which corresponds to a medium risk degree
Kayigamba, Felix R.; van Santen, Daniëla; Bakker, Mirjam I.; Lammers, Judith; Mugisha, Veronicah; Bagiruwigize, Emmanuel; de Naeyer, Ludwig; Asiimwe, Anita; Schim van der Loeff, Maarten F.
2016-01-01
Provider-initiated HIV testing and counselling (PITC) is promoted as a means to increase HIV case finding. We assessed the effectiveness of PITC to increase HIV testing rate and HIV case finding among outpatients in Rwandan health facilities (HF). PITC was introduced in six HFs in 2009-2010. HIV
Factors for Personal Counseling among Counseling Trainees
Byrne, J. Stephen; Shufelt, Brett
2014-01-01
The present study explored the use of counseling among counselor trainees and the characteristics of consumers and nonconsumers. Approximately 61% of those surveyed (n = 85) reported that they had received counseling, with the majority being mental health counseling trainees. Nonconsumers (n = 54) indicated that they coped with problems in other…
Mutanga, Jane N; Raymond, Juliette; Towle, Megan S; Mutembo, Simon; Fubisha, Robert Captain; Lule, Frank; Muhe, Lulu
2012-01-01
Provider-initiated testing and counselling (PITC) is a priority strategy for increasing access for HIV-exposed children to prevention measures, and infected children to treatment and care interventions. This article examines efforts to scale-up paediatric PITC at a second-level hospital located in Zambia's Southern Province, and serving a catchment area of 1.2 million people. Our retrospective case study examined best practices and enabling factors for rapid institutionalization of PITC in Livingstone General Hospital. Methods included clinical observations, key informant interviews with programme management, and a desk review of hospital management information systems (HMIS) uptake data following the introduction of PITC. After PITC roll-out, the hospital experienced considerably higher testing uptake. In a 36-month period following PITC institutionalization, of total inpatient children eligible for PITC (n = 5074), 98.5% of children were counselled, and 98.2% were tested. Of children tested (n = 4983), 15.5% were determined HIV-infected; 77.6% of these results were determined by DNA polymerase chain reaction (PCR) testing in children under the age of 18 months. Of children identified as HIV-infected in the hospital's inpatient and outpatient departments (n = 1342), 99.3% were enrolled in HIV care, including initiation on co-trimoxazole prophylaxis. A number of good operational practices and enabling factors in the Livingstone General Hospital experience can inform rapid PITC institutionalization for inpatient and outpatient children. These include the placement of full-time nurse counsellors at key areas of paediatric intake, who interface with patients immediately and conduct testing and counselling. They are reinforced through task-shifting to peer counsellors in the wards. Nurse counsellor capacity to draw specimen for DNA PCR for children under 18 months has significantly enhanced early infant diagnosis. The hospital's bolstered antiretroviral
Genetics Home Reference: Kleefstra syndrome
... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... G, Tzioumi D, Sillence DO, Mowat D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. ...
Psychiatric genetic testing: Attitudes and intentions among future users and providers
DEFF Research Database (Denmark)
Laegsgaard, Mett Marri; Mors, Ole
2008-01-01
as a guide in this field, but the optimal utilization of genetic testing has also been recognized to depend on knowledge of the potential consumers' attitudes. To provide knowledge to inform the public debate on mental illness and genetics, and the future conducting of psychiatric genetic testing....... Psychiatric and somatic genetic testing attracted the same amounts of accept. General attitudes toward access to psychiatric genetic testing and information revealed substantial support for bioethical principles of autonomy and privacy. However, questions describing more specific situations revealed......Psychiatric genetic research may eventually render possible psychiatric genetic testing. Whereas all genetic knowledge has certain characteristics raising ethical, legal, and social issues, psychiatric genetic knowledge adds more controversial issues. Ethical principles have been proposed...
Workplace Counselling: Implications For Enhanced Productivity ...
African Journals Online (AJOL)
It further presents a model of workplace counseling and concludes that increase in work related trauma and stress, accidents at the workplace, harassment and bullying, absenteeism, low productivity/poor performance and labour turnover will be nipped in the bud if counseling service is provided at the workplace.
Visual Arts in Counselling Adults with Depressive Disorders
Lee, Khai Ling; Mustaffa, M. S.; Tan, S. Y.
2017-01-01
This study provides a better understanding of using visual arts in counselling adults with depressive disorders. Three in-depth case studies were conducted in the counselling unit of a mental health hospital in Malaysia. Both qualitative and quantitative research methods were applied to explore three adult participants' counselling experiences.…
Tuthill, Emily L.; Chan, Jessica; Butler, Lisa M.
2014-01-01
Exclusive breastfeeding (EBF) has been identified as the optimal nutrition and critical behavior in attaining human immunodeficiency virus (HIV)-free infant survival in resource-limited settings. Healthcare providers (HCPs) in clinic- and community-settings throughout sub-Saharan Africa (sSA) provide infant feeding counseling. However, rates of EBF at 6 months of age are suboptimal. Healthcare providers (HCPs) are uniquely positioned to educate HIV-positive mothers and provide support by addr...
Public health genetic counselors: activities, skills, and sources of learning.
McWalter, Kirsty M; Sdano, Mallory R; Dave, Gaurav; Powell, Karen P; Callanan, Nancy
2015-06-01
Specialization within genetic counseling is apparent, with 29 primary specialties listed in the National Society of Genetic Counselors' 2012 Professional Status Survey (PSS). PSS results show a steady proportion of genetic counselors primarily involved in public health, yet do not identify all those performing public health activities. Little is known about the skills needed to perform activities outside of "traditional" genetic counselor roles and the expertise needed to execute those skills. This study aimed to identify genetic counselors engaging in public health activities, the skills used, and the most influential sources of learning for those skills. Participants (N = 155) reported involvement in several public health categories: (a) Education of Public and/or Health Care Providers (n = 80, 52 %), (b) Population-Based Screening Programs (n = 70, 45 %), (c) Lobbying/Public Policy (n = 62, 40 %), (d) Public Health Related Research (n = 47, 30 %), and (e) State Chronic Disease Programs (n = 12, 8 %). Regardless of category, "on the job" was the most common primary source of learning. Genetic counseling training program was the most common secondary source of learning. Results indicate that the number of genetic counselors performing public health activities is likely higher than PSS reports, and that those who may not consider themselves "public health genetic counselors" do participate in public health activities. Genetic counselors learn a diverse skill set in their training programs; some skills are directly applicable to public health genetics, while other public health skills require additional training and/or knowledge.
[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].
Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong
2014-08-01
To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.
Chao, Ruth Chu-Lien; Wei, Meifen; Good, Glenn E.; Flores, Lisa Y.
2011-01-01
Increasing trainees' multicultural counseling competence (MCC) has been a hot topic in counseling. Scholars have identified predictors (e.g., race/ethnicity, color-blindness) of MCC, and educators provide multicultural training for trainees. Using a sample of 370 psychology trainees, this study examined whether multicultural training (a) moderated…
Randall, Leslie M; Pothuri, Bhavana; Swisher, Elizabeth M; Diaz, John P; Buchanan, Adam; Witkop, Catherine T; Bethan Powell, C; Smith, Ellen Blair; Robson, Mark E; Boyd, Jeff; Coleman, Robert L; Lu, Karen
2017-08-01
To assess current practice, advise minimum standards, and identify educational gaps relevant to genetic screening, counseling, and testing of women affected by gynecologic cancers. The Society of Gynecologic Oncology (SGO) organized a multidisciplinary summit that included representatives from the American College of Obstetricians and Gynecologists (ACOG), the American Society Clinical Oncology (ASCO), the National Society of Genetic Counselors (NSGC), and patient advocacy groups, BrightPink and Facing our Risk of Cancer Empowered (FORCE). Three subject areas were discussed: care delivery models for genetic testing, barriers to genetic testing, and educational opportunities for providers of genetic testing. The group endorsed current SGO, National Comprehensive Cancer Network (NCCN), and NSGC genetic testing guidelines for women affected with ovarian, tubal, peritoneal cancers, or DNA mismatch repair deficient endometrial cancer. Three main areas of unmet need were identified: timely and universal genetic testing for women with ovarian, fallopian tube, and peritoneal cancers; education regarding minimum standards for genetic counseling and testing; and barriers to implementation of testing of both affected individuals as well as cascade testing of family members. Consensus building among all stakeholders resulted in an action plan to address gaps in education of gynecologic oncology providers and delivery of cancer genetics care. Copyright © 2017. Published by Elsevier Inc.
Particularities and tools of counseling process in further professional education
Shershun, Kristina
2016-01-01
Following bachelor's thesis is devoted to methodological aspects of the career counseling. It deals with the terminological discussion of counseling-related concepts and its areas of application in the context of adult education. The thesis is focused on a counseling process, structure, tools and specifics in career counseling. It provides an analysis of wide range of counseling tools from basic counseling techniques to specific digital and complex means. Practical implementation of the tools...
Three Dimensions of a Counseling Relationship.
Nystul, Michael S.
1979-01-01
Attempts to adjust the counseling relationship to accommodate the actual or emerging needs of the client can become a frustrating experience for the counselor. This article attempts to provide some guidelines by describing the client's characteristics and the counselor's role within three dimensions of a counseling relationship. (Author)
Narrative Counseling for Professional School Counselors
Nafziger, Jacinta; DeKruyf, Lorraine
2013-01-01
This article introduces narrative counseling concepts and techniques for professional school counselors. The authors provide a case study of narrative school counseling with an elementary student struggling with selective mutism. Examples also demonstrate how a narrative approach could be used at elementary, middle, and high school levels within…
Venezuelan Counseling: Advancement and Current Challenges
Vera, George Davy
2011-01-01
In the worldwide community it is not well known that counseling and guidance professional practices have a long tradition in Venezuela. Therefore, this contribution's main purpose is to inform the international audience about past and contemporary counseling in Venezuela. Geographic, demographic, and cultural facts about Venezuela are provided.…
College and Career Counseling Training Initiative
Southern Regional Education Board (SREB), 2014
2014-01-01
The Southern Regional Education Board's (SREB) College and Career Counseling Training Initiative works to increase the knowledge and skills of counselors who advise students on their postsecondary aspirations. Membership in the initiative provides access to Strategies in College and Career Counseling, a series of online training modules that can…
Cortesi, L; Razzaboni, E; Toss, A; De Matteis, E; Marchi, I; Medici, V; Tazzioli, G; Andreotti, A; De Santis, G; Pignatti, M; Federico, M
2014-01-01
Risk-reducing mastectomy (RRM) decreases breast cancer (BC) risk in BRCA1/2 mutation carriers by up to 95%, but the Italian attitude towards this procedure is reluctant. This is an observational study with retrospective design, using quantitative and qualitative research methods, aimed at evaluating the attitude towards RRM by rapid genetic counselling and testing (RGCT), at the time of BC diagnosis, compared with traditional genetic counselling and testing (TGCT), after previous BC surgery. Secondary aims were to investigate patient satisfaction after RRM and the rate of occult tumour in healthy breasts. A total of 1168 patients were evaluated: 1058 received TGCT, whereas 110 underwent RGCT. In TGCT, among 1058 patients, 209 (19.7%) mutation carriers were identified, with the rate of RRM being 4.7% (10 of 209). Conversely in RGCT, among 110 patients, 36 resulted positive, of which, 15 (41.7%) underwent bilateral mastectomy at the BC surgery time, showing an overall good satisfaction, measured by interpretative phenomenological analysis 12 months after the intervention. Our study shows that RGCT in patients with a hereditary profile is associated with a high rate of RRM at the BC surgery time, this being the pathway offered within a multidisciplinary organization.
Genetic heterogeneity of retinitis pigmentosa
Hartono, Hartono
2015-01-01
Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogene...
INTRODUCING OVER THE COUNTER COUNSELING
Directory of Open Access Journals (Sweden)
Nataša Bakić-Mirić
2009-01-01
Full Text Available A pharmacist in today’s world has a great responsibility – to help and educate patients about diverse ways for effective self-treatment. Whereas self-care is becoming increasingly popular among patients today the availability of over-the-counter medications makes it possible for patients to treat numerous conditions on their own but still under the supervision of a healthcare provider. During the pharmacist-patient encounter, the pharmacist’s obligation is to evaluate the patient’s medical condition, provide proper advice and counsel the patient on the proper course of treatment to be taken. Also by employing effective over the counter (OTC counseling as the most proper means in a pharmacist/patient communication process and, accordingly, rapport building in the OTC area, the pharmacist needs to demonstrate high energy, enthusiasm, respect, empathy, know-how of sensitive intercultural issues alongside personal appearance, body language, eye contact that all together make his/her personal “signature”. Accordingly, apart from patient education, the primary objective of OTC counseling becomes to educate pharmacists on basic principles used in assisting patients in the selection of over-the-counter (OTC products, provide examples of proper communication techniques for effective patient counseling concerning the OTC products (i.e. dosage, administration technique, storage, food and beverage interaction, monitoring etc where the pharmacist plays the key role in helping patients maximize their pharmaceutical care.
Options Counseling for the Pregnant Adolescent Patient.
Hornberger, Laurie L
2017-09-01
Each year, more than 500 000 girls and young women younger than 20 years become pregnant. It is important for pediatricians to have the ability and the resources in their offices to make a timely pregnancy diagnosis in their adolescent patients and provide them with nonjudgmental pregnancy options counseling. Counseling includes an unbiased discussion of the adolescent's legal options to either continue or terminate her pregnancy, supporting the adolescent in the decision-making process, and referring the adolescent to appropriate resources and services. Pediatricians who choose not to provide such discussions should promptly refer pregnant adolescent patients to a health care professional who will offer developmentally appropriate pregnancy options counseling. This approach to pregnancy options counseling has not changed since the original 1989 American Academy of Pediatrics statement on this issue. Copyright © 2017 by the American Academy of Pediatrics.
Indigenous counseling: A needed area in school counseling in Nigeria
African Journals Online (AJOL)
Indigenous counselling has not been given attention in Nigeria's school counselling programme. This counselling gap was created by European colonialism, which succeeded in developing in the minds of the African that anything indigenous is local, unscientific and unorthodox. Indigenous counselling is one of the ...
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.
Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente
2017-01-01
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.
Virginia Tech's Cook Counseling Center receives international counseling accreditation
DeLauder, Rachel
2010-01-01
The Virginia Tech Thomas E. Cook Counseling Center has been accredited by the International Association of Counseling Services, Inc., an organization of United States, Canadian, and Australian counseling agencies based in Alexandria, Va.
Attitudes and Practices Among Internists Concerning Genetic Testing
Chung, Wendy; Marder, Karen; Shanmugham, Anita; Chin, Lisa J.; Stark, Meredith; Leu, Cheng-Shiun; Appelbaum, Paul S.
2012-01-01
Many questions remain concerning whether, when, and how physicians order genetic tests, and what factors are involved in their decisions. We surveyed 220 internists from two academic medical centers about their utilization of genetic testing. Rates of genetic utilizations varied widely by disease. Respondents were most likely to have ordered tests for Factor V Leiden (16.8%), followed by Breast/Ovarian Cancer (15.0%). In the past 6 months, 65% had counseled patients on genetic issues, 44% had ordered genetic tests, 38.5% had referred patients to a genetic counselor or geneticist, and 27.5% had received ads from commercial labs for genetic testing. Only 4.5% had tried to hide or disguise genetic information, and genetic discrimination. Only 53.4% knew of a geneticist/genetic counselor to whom to refer patients. Most rated their knowledge as very/somewhat poor concerning genetics (73.7%) and guidelines for genetic testing (87.1%). Most felt needs for more training on when to order tests (79%), and how to counsel patients (82%), interpret results (77.3%), and maintain privacy (80.6%). Physicians were more likely to have ordered a genetic test if patients inquired about genetic testing (pgenetic counselor to whom to refer patients (pgenetic counselor in the past 6 months, had more comfort counseling patients about testing (pgenetics, larger practices (pgenetic discrimination (pgenetic test was associated with patients inquiring about testing, having referred patients to a geneticist/genetic counselor and knowing how to order tests., These data suggest that physicians recognize their knowledge deficits, and are interested in training. These findings have important implications for future medical practice, research, and education. PMID:22585186
Genetic Issues in Mental Retardation, 1996-1997.
Genetic Issues in Mental Retardation, 1996
1996-01-01
This document consists of the first six issues of a newsletter, which discusses current knowledge about and concerns related to genetics and mental retardation. The second issue addresses the problem of genetic discrimination. The third issue considers genetic testing, screening, and counseling. The fourth issue addresses genetic privacy issues.…
Development of the Preferences for College Counseling Inventory
Hatchett, Gregory T.
2015-01-01
This study describes the development of the Preferences for College Counseling Inventory (PCCI). In addition to providing data about college students' preferences for the logistics of counseling and the demographic/professional background of a potential therapist, the PCCI also provides numerical scores on 3 scales (Therapist Expertise, Therapist…
Stephenson, Rob; Metheny, Nicholas; Sharma, Akshay; Sullivan, Stephen; Riley, Erin
2017-11-28
Transgender and gender nonconforming people experience some of the highest human immunodeficiency virus (HIV) rates in the United States, and experience many structural and behavioral barriers that may limit their engagement in HIV testing, prevention, and care. Evidence suggests that transgender and gender nonconforming youth (TY) are especially vulnerable to acquiring HIV, yet there is little research on TY and few services are targeted towards HIV testing, prevention, and care for this population. Telehealth presents an opportunity to mitigate some structural barriers that TY experience in accessing HIV testing, allowing TY to engage in HIV testing and counseling in a safe and nonjudgmental space of their choosing. Project Moxie is an HIV prevention intervention that pairs the use of HIV self-testing with remote video-based counseling and support from a trained, gender-affirming counselor. This study aims to offer a more positive HIV testing and counseling experience, with the goal of improving HIV testing frequency. Project Moxie involves a pilot randomized controlled trial (RCT) of 200 TY aged 15-24 years, who are randomized on a 1:1 basis to control or intervention arms. The aim is to examine whether the addition of counseling provided via telehealth, coupled with home-based HIV testing, can create gains in routine HIV testing among TY over a six-month follow-up period. This study implements a prospective pilot RCT of 200 TY recruited online. Participants in the control arm will receive one HIV self-testing kit and will be asked to report their results via the study's website. Participants in the experimental arm will receive one HIV self-testing kit and will test with a remotely-located counselor during a prescheduled video-counseling session. Participants are assessed at baseline, and at three and six months posttesting. Project Moxie was launched in June 2017 and recruitment is ongoing. As of August 21, 2017, the study had enrolled 130 eligible
Douma, Kirsten F. L.; Smets, Ellen M. A.; Allain, Dawn C.
2016-01-01
Non-genetic health professionals (NGHPs) have insufficient knowledge of cancer genetics, express educational needs and are unprepared to counsel their patients regarding their genetic test results. So far, it is unclear how NGHPs perceive their own communication skills. This study was undertaken to
The genetics of anophthalmia and microphthalmia.
Bardakjian, Tanya M; Schneider, Adele
2011-09-01
To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia. The main themes discussed within this article are the various documented genetic advances in identifying the various causes of anophthalmia and microphthalmia. In addition, the complex interplay of these genes during critical embryonic development will be addressed. The recent identification of many eye development genes has changed the ability to identify a cause of anophthalmia and microphthalmia in many individuals. Syndrome identification and the availability of genetic testing underscores the desirability of evaluation by a geneticist for all individuals with anophthalmia and microphthalmia in order to provide appropriate management, long-term guidance, and genetic counseling.
Educational Opportunities for Clinical Counseling Simulations in Second Life
Walker, Victoria L.; Rockinson-Szapkiw, Amanda
2009-01-01
Counseling students must learn and practice basic counseling skills, including attending, listening, empathizing, and demonstrating warmth and respect. For online educators, providing opportunities for students to develop these skills in realistic counseling situations can be difficult. Victoria L. Walker and Amanda Rockinson-Szapkiw describe how…
The Online-Counseling Debate: A View toward the Underserved
Sanchez-Page, Delida
2005-01-01
This article responds to some important issues that Mallen, Vogel, Rochlen, and Day raise in "Online Counseling: Reviewing the Literature from a Counseling Psychology Framework." This reaction reviews the appropriateness of online counseling for underserved populations. The author provides suggestions for better serving historically undeserved…
Directory of Open Access Journals (Sweden)
Magali Michaut
Full Text Available Genetic interactions help map biological processes and their functional relationships. A genetic interaction is defined as a deviation from the expected phenotype when combining multiple genetic mutations. In Saccharomyces cerevisiae, most genetic interactions are measured under a single phenotype - growth rate in standard laboratory conditions. Recently genetic interactions have been collected under different phenotypic readouts and experimental conditions. How different are these networks and what can we learn from their differences? We conducted a systematic analysis of quantitative genetic interaction networks in yeast performed under different experimental conditions. We find that networks obtained using different phenotypic readouts, in different conditions and from different laboratories overlap less than expected and provide significant unique information. To exploit this information, we develop a novel method to combine individual genetic interaction data sets and show that the resulting network improves gene function prediction performance, demonstrating that individual networks provide complementary information. Our results support the notion that using diverse phenotypic readouts and experimental conditions will substantially increase the amount of gene function information produced by genetic interaction screens.
34 CFR 106.36 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 34 Education 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling... Programs or Activities Prohibited § 106.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or...
Mapes, Marianna V; O'Brien, Barbara M; King, Louise P
2017-07-01
Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy. Our analysis foregrounds clinicians' role in helping to ensure autonomous decision making as the patient reflects on these clinical options in light of her goals and values. © 2017 American Medical Association. All Rights Reserved.
Cancer Genetics Overview (PDQ®)—Health Professional Version
Cancer Genetics Overview discusses hereditary cancers and the role of genetic variants (mutations). Get information about genetic counseling, familial cancer syndromes, genomic sequencing, germline and somatic testing, ethical and legal issues and more in this summary for clinicians.
45 CFR 618.425 - Counseling and use of appraisal and counseling materials.
2010-10-01
... 45 Public Welfare 3 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Activities Prohibited § 618.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or guidance of...
45 CFR 2555.425 - Counseling and use of appraisal and counseling materials.
2010-10-01
... 45 Public Welfare 4 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Activities Prohibited § 2555.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or guidance of...
32 CFR 196.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 32 National Defense 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling... Programs or Activities Prohibited § 196.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or...
Counselling Psychology in South Africa.
Bantjes, Jason; Kagee, Ashraf; Young, Charles
The origin and development of counselling psychology in South Africa has been profoundly influenced by the country's socio-political history and the impact of apartheid. As a result of this, counselling psychologists in the country face a number of challenges and opportunities for the future. In this paper we provide a portrait of counselling psychology in South Africa by describing the current character of the specialty and the context in which South African psychologists work. We critically discuss the challenges that the specialty faces to meet the country's mental health care needs, contest the current Scope of Practice; affirm multiculturalism without essentializing or reifying race and ethnicity, and build an evidence base for community interventions in the country. We also consider how, in the future, counselling psychologists in South Africa may make a more meaningful contribution within public health and the country's health care and education systems.
Directory of Open Access Journals (Sweden)
Jane N Mutanga
Full Text Available BACKGROUND: Provider-initiated testing and counselling (PITC is a priority strategy for increasing access for HIV-exposed children to prevention measures, and infected children to treatment and care interventions. This article examines efforts to scale-up paediatric PITC at a second-level hospital located in Zambia's Southern Province, and serving a catchment area of 1.2 million people. METHODS AND PRINCIPAL FINDINGS: Our retrospective case study examined best practices and enabling factors for rapid institutionalization of PITC in Livingstone General Hospital. Methods included clinical observations, key informant interviews with programme management, and a desk review of hospital management information systems (HMIS uptake data following the introduction of PITC. After PITC roll-out, the hospital experienced considerably higher testing uptake. In a 36-month period following PITC institutionalization, of total inpatient children eligible for PITC (n = 5074, 98.5% of children were counselled, and 98.2% were tested. Of children tested (n = 4983, 15.5% were determined HIV-infected; 77.6% of these results were determined by DNA polymerase chain reaction (PCR testing in children under the age of 18 months. Of children identified as HIV-infected in the hospital's inpatient and outpatient departments (n = 1342, 99.3% were enrolled in HIV care, including initiation on co-trimoxazole prophylaxis. A number of good operational practices and enabling factors in the Livingstone General Hospital experience can inform rapid PITC institutionalization for inpatient and outpatient children. These include the placement of full-time nurse counsellors at key areas of paediatric intake, who interface with patients immediately and conduct testing and counselling. They are reinforced through task-shifting to peer counsellors in the wards. Nurse counsellor capacity to draw specimen for DNA PCR for children under 18 months has significantly enhanced early
Genetic testing and counselling in inherited eye disease
DEFF Research Database (Denmark)
Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne
2013-01-01
Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists...
Counselling Psychology in South Africa
Bantjes, Jason; Kagee, Ashraf; Young, Charles
2016-01-01
The origin and development of counselling psychology in South Africa has been profoundly influenced by the country’s socio-political history and the impact of apartheid. As a result of this, counselling psychologists in the country face a number of challenges and opportunities for the future. In this paper we provide a portrait of counselling psychology in South Africa by describing the current character of the specialty and the context in which South African psychologists work. We critically discuss the challenges that the specialty faces to meet the country’s mental health care needs, contest the current Scope of Practice; affirm multiculturalism without essentializing or reifying race and ethnicity, and build an evidence base for community interventions in the country. We also consider how, in the future, counselling psychologists in South Africa may make a more meaningful contribution within public health and the country’s health care and education systems. PMID:27867261
Counseling activity in single-session online counseling with adolescents: an adherence study.
Chardon, Lydia; Bagraith, Karl S; King, Robert John
2011-09-01
While online counseling is increasingly utilized, little is known about what counseling work takes place in the online environment. The aim of this study was to quantify online counseling activity by determining counselors' adherence to the widely used model in which they had been trained. Transcripts (n=85) of online counseling with adolescents were evaluated, using a standardized and psychometrically sound instrument. We found that, while counseling in 53% of transcripts progressed through each of the key stages of counseling, the focus of most sessions was information gathering; and goal exploration and action planning were typically superficial and often absent. Possible reasons for low counseling depth are discussed and recommendations made for the further development of online counseling.
14 CFR 1253.425 - Counseling and use of appraisal and counseling materials.
2010-01-01
... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 1253.425 Section 1253.425 Aeronautics and Space NATIONAL AERONAUTICS AND SPACE... § 1253.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall...
38 CFR 23.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 23.425 Section 23.425 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... Activities Prohibited § 23.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
13 CFR 113.425 - Counseling and use of appraisal and counseling materials.
2010-01-01
... 13 Business Credit and Assistance 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 113.425 Section 113.425 Business Credit and Assistance SMALL BUSINESS... Activities Prohibited § 113.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
Genetics in Ophthalmology III – Posterior Segment Diseases
Directory of Open Access Journals (Sweden)
Canan Aslı Utine
2012-10-01
Full Text Available Genetic diseases are congenital or acquired hereditary diseases that result from structural/functional disorders of the human genome. Today, the genetic factors that play a role in many diseases are being highlighted with the rapid progress in the field of genetics science. It becomes increasingly important that physicians from all disciplines have knowledge about the basic principles of genetics, patterns of inheritance, etc., so that they can follow the new developments. In genetic eye diseases, ophthalmologists should know the basic clinical and recently rapidly developing genetic characteristics of these diseases in order to properly approach the diagnosis and treatment and to provide genetic counseling. In this paper, posterior segment eye diseases of genetic origin are reviewed, and retinoblastoma, mitochondrial diseases, retinal dysplasia, retinitis pigmentosa, choroideremia, gyrate atrophy, Alström disease, ocular albinism, optic nerve hypoplasia, anophthalmia/microphthalmia and Leber’s congenital amaurosis are covered. (Turk J Ophthalmol 2012; 42: 386-92
24 CFR 3.425 - Counseling and use of appraisal and counseling materials.
2010-04-01
... 24 Housing and Urban Development 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling materials. 3.425 Section 3.425 Housing and Urban Development Office of the Secretary, Department... Activities Prohibited § 3.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
29 CFR 36.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 29 Labor 1 2010-07-01 2010-07-01 true Counseling and use of appraisal and counseling materials. 36... in Education Programs or Activities Prohibited § 36.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of...
31 CFR 28.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 28.425 Section 28.425 Money and Finance: Treasury Office of the Secretary of the....425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not...
10 CFR 1042.425 - Counseling and use of appraisal and counseling materials.
2010-01-01
... 10 Energy 4 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials... on the Basis of Sex in Education Programs or Activities Prohibited § 1042.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
49 CFR 25.425 - Counseling and use of appraisal and counseling materials.
2010-10-01
... 49 Transportation 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 25.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
18 CFR 1317.425 - Counseling and use of appraisal and counseling materials.
2010-04-01
... 18 Conservation of Power and Water Resources 2 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling materials. 1317.425 Section 1317.425 Conservation of Power and Water Resources... Activities Prohibited § 1317.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A...
22 CFR 146.425 - Counseling and use of appraisal and counseling materials.
2010-04-01
... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 146.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
22 CFR 229.425 - Counseling and use of appraisal and counseling materials.
2010-04-01
... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 229.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
45 CFR 86.36 - Counseling and use of appraisal and counseling materials.
2010-10-01
... 45 Public Welfare 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 86.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
6 CFR 17.425 - Counseling and use of appraisal and counseling materials.
2010-01-01
... 6 Domestic Security 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 17.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on...
10 CFR 5.425 - Counseling and use of appraisal and counseling materials.
2010-01-01
... 10 Energy 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials... in Education Programs or Activities Prohibited § 5.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the...
Factors That Influence School Counselors' Intent to Use Online Counseling
Golden, Sarah Heather
2017-01-01
Owing to advancements in technology, online counseling has become a viable option for counselors to provide counseling services to diverse populations. Despite the expansion of resources, a gap in research exists pertaining to a school counselor's intention to use online counseling. Furthermore, online counseling is an underused tool owing to a…
Eden, Martin; Payne, Katherine; Combs, Ryan M; Hall, Georgina; McAllister, Marion; Black, Graeme C M
2013-08-01
Technological advances present an opportunity for more people with, or at risk of, developing retinitis pigmentosa (RP) to be offered genetic testing. Valuation of these tests using current evaluative frameworks is problematic since benefits may be derived from diagnostic information rather than improvements in health. This pilot study aimed to explore if contingent valuation method (CVM) can be used to value the benefits of genetic testing for RP. CVM was used to elicit willingness-to-pay (WTP) values for (1) genetic counselling and (2) genetic counselling with genetic testing. Telephone and face-to-face interviews with a purposive sample of individuals with (n=25), and without (n=27), prior experience of RP were used to explore the feasibility and validity of CVM in this context. Faced with a hypothetical scenario, the majority of participants stated that they would seek genetic counselling and testing in the context of RP. Between participant groups, respondents offered similar justifications for stated WTP values. Overall stated WTP was higher for genetic counselling plus testing (median=£524.00) compared with counselling alone (median=£224.50). Between-group differences in stated WTP were statistically significant; participants with prior knowledge of the condition were willing to pay more for genetic ophthalmology services. Participants were able to attach a monetary value to the perceived potential benefit that genetic testing offered regardless of prior experience of the condition. This exploratory work represents an important step towards evaluating these services using formal cost-benefit analysis.
Egyptian Journal of Medical Human Genetics
African Journals Online (AJOL)
... and genetic counseling as well as advances in prevention and treatment of genetic disorders. ... Clinical application of genomics and next generation sequencing ... vectors and SIN channels further relieves the limitations of gene therapy ... 3 gene in Malaysian subjects with neovascular age-related macular degeneration ...
Social Constructionism and Ethics: Implications for Counseling
Guterman, Jeffrey T.; Rudes, James
2008-01-01
Social constructionism is set forth as an epistemological framework from which to establish an ethical base for the field of counseling. The development of the social constructionist movement in counseling is described. Implications of a social constructionist position are considered in relation to ethics. A case example is provided to illustrate…
Identifying mental health services in clinical genetic settings.
Cappelli, M; Esplen, M J; Wilson, B J; Dorval, M; Bottorff, J L; Ly, M; Carroll, J C; Allanson, J; Humphreys, E; Rayson, D
2009-10-01
The purpose of this study was to examine the mental health needs of individuals at risk for adult onset hereditary disorder (AOHD) from the perspective of their genetic service providers, as it is unknown to what extent psychosocial services are required and being met. A mail-out survey was sent to 281 providers on the membership lists of the Canadian Association of Genetic Counsellors and the Canadian College of Medical Geneticists. The survey assessed psychosocial issues that were most commonly observed by geneticists, genetic counsellors (GCs), and nurses as well as availability and types of psychosocial services offered. Of the 129 respondents, half of genetic service providers reported observing signs of depression and anxiety, while 44% noted patients' concerns regarding relationships with family and friends. In terms of providing counselling to patients, as the level of psychological risk increased, confidence in dealing with these issues decreased. In addition, significantly more GCs reported that further training in psychosocial issues would be most beneficial to them if resources were available. As a feature of patient care, it is recommended that gene-based predictive testing include an integrative model of psychosocial services as well as training for genetic service providers in specific areas of AOHD mental health.
Declining Counseling Research in Counseling Psychology Journals: Is the Sky Falling?
Lichtenberg, James W.
2011-01-01
Scheel et al. note a rather precipitous decline over the past 30 years in the number and proportion of counseling-related research articles appearing in "Journal of Counseling Psychology" ("JCP") and "The Counseling Psychologist" ("TCP"). Certainly, counseling psychology as a field has changed over its 65-year history, and a great deal of that…
Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.
Vrecar, Irena; Peterlin, Borut; Teran, Natasa; Lovrecic, Luca
2015-01-01
Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse current situation in the field of DTC GT in Slovenia and related legal and ethical issues. Information was retrieved through internet search, performed independently by two authors, structured according to individual private company and the types of offered genetic testing. Five private companies and three Health Insurance Companies offer DTC GT and it is provided without genetic counselling. Available tests include testing for breast cancer, tests with other health-related information (complex diseases, drug responses) and other tests (nutrigenetic, ancestry, paternity). National legislation is currently being developed and Council of Experts in Medical Genetics has issued an opinion about Genetic Testing and Commercialization of Genetic Tests in Slovenia. Despite the fact that Slovenia has signed the Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes, DTC GT in Slovenia is present and against all international recommendations. There is lack of or no medical supervision, clinical validity and utility of tests and inappropriate genetic testing of minors is available. There is urgent need for regulation of ethical, legal, and social aspects. National legislation on DTC GT is being prepared.
Counselling users of hearing technology: a comprehensive literature review.
Meibos, Alex; Muñoz, Karen; Schultz, Jared; Price, Tanner; Whicker, John J; Caballero, Ana; Graham, Laurel
2017-12-01
The purpose of this review is to determine the scope of peer-reviewed empirical research related to counselling in audiology with patients using hearing technology and to identify limitations and gaps to guide recommendations for future research. A rapid evidence assessment was used to identify relevant articles for the review. Eighteen articles met the inclusion criteria. Three themes were identified: (1) audiologist counselling perspectives, (2) counselling communication trends in practice and (3) audiologist experiences with professional training and reported patient outcomes. Findings revealed audiologists are more confident providing information than counselling that addresses adjustment aspects, and other communication gaps have been observed. There is limited research related to counselling in audiology. Audiologists continue to report a need for more training in counselling in their graduate programmes. Additional research is needed to determine effective ways to implement counselling in practice and to improve graduate student supervision for the development of counselling competencies and confidence in using skills in practice.
Genetically caused congenital anomalies of reproductive system
Directory of Open Access Journals (Sweden)
L. F. Kurilo
2013-01-01
Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.
[Effectiveness of integrative psychotherapeutic counseling for students].
Sperth, Michael; Hofmann, Frank-Hagen; Holm-Hadulla, Rainer Mathias
2014-06-01
In this first effectiveness study of psychotherapeutic counseling for students in German-speaking countries, the effectiveness of an integrative model of counseling was evaluated based on a sample of 151 clients. Effectiveness of integrative counseling according to the ABCDE-model was found to be high in comparison to other international studies in this area. Pre-post differences on measures of mental distress and satisfaction were significant and effect sizes were mostly moderate to high. A high percentage of clients improved statistically and clinically significant. Counselors' expert rating and diagnostics according to ICD-10 that have been included in contrast to previous effectiveness studies showed that clients suitable for the counseling setting get treated in the counseling center while more severely disturbed clients in terms of psychopathology or diagnosis get referred to outpatient treatment, drop out or object to provide post-data. © Georg Thieme Verlag KG Stuttgart · New York.
Genetic determinants of heart failure: facts and numbers.
Czepluch, Frauke S; Wollnik, Bernd; Hasenfuß, Gerd
2018-06-01
The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing. Due to this development, genetic testing has become increasingly accessible and NGS-based sequencing is now applied in clinical routine diagnostics. One of the most common reasons of heart failure are cardiomyopathies such as the dilated or the hypertrophic cardiomyopathy. Nearly 100 disease-associated genes have been identified for cardiomyopathies. The knowledge of a pathogenic mutation can be used for genetic counselling, risk and prognosis determination, therapy guidance and hence for a more effective treatment. Besides, family cascade screening for a known familial, pathogenic mutation can lead to an early diagnosis in affected individuals. At that timepoint, a preventative intervention could be used to avoid or delay disease onset or delay disease progression. Understanding the cellular basis of genetic heart failure syndromes in more detail may provide new insights into the molecular biology of physiological and impaired cardiac (cell) function. As our understanding of the molecular and genetic pathophysiology of heart failure will increase, this might help to identify novel therapeutic targets and may lead to the development of new and specific treatment options in patients with heart failure. © 2018 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European
Lenk, Christian; Frommeld, Debora
2015-08-01
Genetic predispositions often concern not only individual persons, but also other family members. Advances in the development of genetic tests lead to a growing number of genetic diagnoses in medical practice and to an increasing importance of genetic counseling. In the present article, a number of ethical foundations and preconditions for this issue are discussed. Four different models for the handling of genetic information are presented and analyzed including a discussion of practical implications. The different models' ranges of content reach from a strictly autonomous position over self-governed arrangements in the practice of genetic counseling up to the involvement of official bodies and committees. The different models show a number of elements which seem to be very useful for the handling of genetic data in families from an ethical perspective. In contrast, the limitations of the standard medical attempt regarding confidentiality and personal autonomy in the context of genetic information in the family are described. Finally, recommendations for further ethical research and the development of genetic counseling in families are given.
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.3100.... Chapter 35 Counseling § 21.3100 Counseling. (a) Purpose of counseling. The purpose of counseling is to...)) (b) Availability of counseling. Counseling assistance is available for— (1) Identifying and removing...
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.
Yuan, Jing; Li, Song; Xu, YeYe; Cong, Lin
2015-04-02
Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.
Evolution of Counseling in Jamaica: Past, Present, and Future Trends
Palmer, Geoffrey J.; Palmer, Ransford W.; Payne-Borden, Jacqueline
2012-01-01
Counseling maintains a small yet growing presence in Jamaica as a profession. Practitioners are confronted with several societal problems. The authors provide a historical overview of Jamaica and a synopsis of the development of counseling. The emergence of counseling services through the limitations of psychiatry and psychology sets the stage for…
7 CFR 15a.36 - Counseling and use of appraisal and counseling materials.
2010-01-01
... 7 Agriculture 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling... Education Programs and Activities Prohibited § 15a.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the...
Online Counseling: Reviewing the Literature from a Counseling Psychology Framework
Mallen, Michael J.; Vogel, David L.; Rochlen, Aaron B.; Day, Susan X.
2005-01-01
This article reviews the online-counseling literature with an emphasis on current applications and considerations for future research. It focuses on primary themes of counseling psychology including the history of process-outcome research and multiculturalism. It explores current gaps in the literature from a counseling psychology framework,…
The Ghosts of Counseling Psychology: Is Counseling Research Really Dead?
Murdock, Nancy L.
2011-01-01
Scheel et al. offer an interesting analysis on the publication rate of counseling-related research articles in counseling psychology's two major journals. In this reaction to their work, the author considers various aspects of their results and contemplates possible explanations for the decline of counseling-related publications. The author…
Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.
Directory of Open Access Journals (Sweden)
Ryszard Slezak
2008-04-01
Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.
Journal of Genetics | Indian Academy of Sciences
Indian Academy of Sciences (India)
Department of Psychiatry, Genetic Testing and Counselling Clinic, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India; Department of Psychiatry, Molecular Genetics Laboratory, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India; Laboratory of Stem Cells and ...
Counselling and Career Planning: Symposium V A.
Awang, Amir; And Others
Focusing generally on counseling and career planning, this symposium provides (1) a review and critique of guidance and counseling in Malaysian schools, by Amir Awang and Latiff Mirasa; (2) a discussion of the needs of Malaysian youth, by Mohd. Yunus Mohd. Noor; and (3) an abstract of the findings of a study of some aspects of student development…
36 CFR 1211.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 1211.425 Section 1211.425 Parks, Forests, and Public Property NATIONAL... Education Programs or Activities Prohibited § 1211.425 Counseling and use of appraisal and counseling...
Feasibility of videoconferencing in lifestyle group counselling.
Laitinen, Jaana; Korkiakangas, Eveliina; Alahuhta, Maija; Keinänen-Kiukaanniemi, Sirkka; Rajala, Ulla; Timonen, Olavi; Jokelainen, Terhi; Keränen, Anna-Maria; Remes, Jouko; Ruokonen, Aimo; Hedberg, Pirjo; Taanila, Anja; Husman, Päivi; Olkkonen, Seppo
2010-12-01
The rapid increase in the prevalence of type 2 diabetes (T2D) has created an urgent need to develop new practices to prevent and treat it. One possibility is to provide specialists services to remote areas through videoconferencing (VC). Therefore, the aim was to study the feasibility of short-term group counselling by a clinical nutritionist (4 sessions at 1.5-hour each at 2-week intervals from baseline, and the session 5 at 6 months) performed by videoconferencing (VC). We recruited 74 subjects at high risk of T2D, and compiled 5 VC groups (each group included 5-9 subjects, total n=33) and 6 face-to-face groups (FF, total n=44). The subjects were also asked to participate in a follow-up visit 15 months after the last counselling session. Data were collected by a questionnaire (satisfaction with group counselling via videoconferencing), by theme interviews (experiences on group counselling) and by metabolic measures (laboratory tests). Only one of the 74 subjects dropped out during the first 6 months. The proportion of subjects who had received social support from group peers was higher in the videoconferencing group than in the face-to-face groups (p=0.001). The experiences of group counselling transmitted by videoconferencing were positive. Waist circumference decreased significantly at 0 to 6 months of counselling (pgroups (p=0.015). However, no significant differences were observed in most of the measurements between VC and face-to-face groups. Short-term group counselling by a clinical nutritionist through videoconferencing is a feasible way and a practical model to provide specialists services to remote areas, and thus can be used as an option to diminish inequality related to restricted health care services in sparsely inhabited areas.
Effect of therapeutic class on counseling in community pharmacies.
Vainio, Kirsti K; Airaksinen, Marja S A; Hyykky, Tarja T; Enlund, K Hannes
2002-05-01
To assess the effect and importance of the therapeutic class of a drug as a determinant for verbal counseling by community pharmacists. Direct external observations (n = 1431) of pharmacist-customer interactions at the point of delivery of prescription medicines were conducted in 7 community pharmacies in Finland. Trained observers noted whether the pharmacist provided information on directions for use, mode of action, and adverse effects. To examine factors associated with counseling, a multiple logistic regression analysis was constructed, with the dependent variable being counseling of any of the 3 observed topics. In addition to therapeutic class, other independent variables were the pharmacy; pharmacist's age, gender, and degree; and the customer's age, gender, previous use of medicine, and question asking. Provision of counseling differed significantly according to therapeutic classes. Counseling on any of the 3 observed topics was most likely to be provided for customers with antibiotics (80%) and least likely for customers with gynecologic preparations (18%). Differences between therapeutic classes remained statistically significant when the effects of the other variables were controlled for. Other significant predictors for any verbal counseling were the pharmacy, customer's previous use of the medicine, and question asking. Therapeutic class is an important variable that should be included in further studies and considered when comparing studies on patient counseling in community pharmacies.
Counseling Suicidal Adolescents within Family Systems: Ethical Issues
Berg, Rachelle; Hendricks, Bret; Bradley, Loretta
2009-01-01
Major ethical considerations must be taken into account when providing counseling services to suicidal adolescents and their families. This article explores these ethical issues and the American Counseling Association and International Association of Marriage and Family Counselors ethical codes relevant to these issues. Related liability and…
78 FR 58160 - Certification Process for State Capital Counsel System
2013-09-23
... prisoners, and as providing standards of competency for the appointment of counsel in these proceedings... provides standards of competency for the appointment of counsel in [such] proceedings.'' Chapter 154 was... that chapter 154 limits the Attorney General to performing ministerial tasks when exercising his or her...
Directory of Open Access Journals (Sweden)
Malaju Marelign
2012-05-01
Full Text Available Abstract Background Detection of maternal HIV infection early in pregnancy is critical for prevention of mother to child transmission of HIV/AIDS. Most efforts have focused on VCT as the primary means of encouraging people to become aware of their HIV status. However, its uptake is low in many parts of sub-Saharan Africa including Ethiopia. Provider-initiated HIV testing and counseling provides a critical opportunity to diagnose HIV infection, to begin chronic care, and to prevent mother to child transmission. However, little is known about its acceptance and associated factors among pregnant women in the country and particularly in the present study area. Methods Health institution based cross-sectional quantitative study was conducted in Gondar town from July 22-August 18, 2010. A total of 400 pregnant women were involved in the study using stratified sampling technique and multiple logistic regression analysis was employed using SPSS version 16. Results A total of 400 pregnant women actively participated in this study and 330 (82.5% of them accepted provider-initiated HIV testing and counseling to be tested for HIV and 70(17.5% of them refused. Acceptance of provider-initiated HIV testing and counseling was positively associated with greater number of antenatal care visits [Adj. OR (95%CI=2.64(1.17, 5.95], residing in the urban areas[Adj. OR (95%CI=2.85(1.10, 7.41], having comprehensive knowledge on HIV [Adj. OR (95%CI=4.30(1.72, 10.73], positive partners reaction for HIV positive result [Adj. OR (95%CI=8.19(3.57, 18.80] and having knowledge on prevention of mother to child transmission of HIV[Adj. OR (95%CI=3.27(1.34, 7.94], but negatively associated with increased maternal age and education level. Conclusion Utilization of provider-initiated HIV testing and counseling during antenatal care was relatively high among pregnant women in Gondar town. Couple counseling and HIV testing should be strengthened to promote provider-initiated HIV
Counseling on Early Childhood Caries transmission by dentists.
Milgrom, Peter; Huebner, Colleen E; Mancl, Lloyd; Garson, Gayle; Grembowski, David
2013-01-01
High levels of Streptococcus mutans on teeth of young children are predictive of Early Childhood Caries (ECC). Transmission from mother-to-child is common and studies have demonstrated treatment of the mother results in less ECC. The objective of this study was to determine how dentists have adopted the practice of counseling about ECC. In 2006 as part of a larger study on dental care for pregnant women, we surveyed 829 general dentists in Oregon. The questionnaire contained questions to capture the extent to which general dentists have adopted counseling pregnant women about ECC transmission, to describe personal and practice characteristics, and examine how dentists' views on the ease of adopting of new procedures related to ECC counseling. Multivariate logistic regression was used to identify separate and additive effects of demographic and practice characteristics, attitudes, and beliefs. The adjusted odds of a dentist who strongly believed in the link between mothers and babies and provided ECC counseling were 1.60 (95% CI 1.3-2.0, P<0.01). The odds of a dentist who reported discussing ECC with staff members and provided counseling were 2.7 (95% CI 1.7-4.3, P<0.01). Male dentists were less likely to counsel patients than female dentists (Adjusted OR=0.5, 95% CI 0.3-1.0, p<0.05). The strongest predictors of counseling patients about ECC were dentists' belief in the evidence of caries transmission and dentists' discussion of ECC during staff meetings. © 2012 American Association of Public Health Dentistry.
Directory of Open Access Journals (Sweden)
Alejandra Gajardo Ugás
2007-11-01
Full Text Available Las enfermedades de origen genético causan en la actualidad cerca de un 34% de los decesos en los menores de un año. El conocimiento obtenido desde el inicio del Proyecto Genoma Humano ha facilitado herramientas sobre cómo prevenirlas y curarlas. Entre aquéllas se incluye el consejo genético, que debe proporcionar las bases para una decisión informada sobre la gestación de un niño. Estas nuevas tecnologías imponen situaciones éticas cada vez más complejas y cotidianas. ¿Qué hacer con la información que se obtiene? ¿Puede usarse para curar enfermedades genéticas? ¿Cómo promover y cautelar el empleo ético de esta información? En este artículo se presentan las bases del consejo genético y sus implicancias éticas desde una perspectiva personalistaAs enfermidades de origem genética causam na atualidade cerca de 34% de mortes em menos de um ano. O conhecimento obtido desde o início do Projeto Genoma Humano, nos forneceu ferramentas a respeito de como preveni-las e curá-las. Entres outras se inclui o aconselhamento genético, que deve fornecer as bases para uma decisão informada a respeito da gestação de um bebê. Estas novas tecnologias trazem situações éticas cada vez mais complexas e corriqueiras. O que fazer com a informação que se obtêm? Pode-se usar para curar enfermidades genéticas? Como promover e com cuidado e cautela a respeito da utilização ética desta informação. Neste artigo são apresentadas as bases do Aconselhamento Genético e suas implicações éticas a partir de uma perspectiva personalistaDiseases of genetic origin presently cause around 34% of the deaths of minors under a year old. The knowledge obtained since the Human Genome Project begun has provided tools for prevention and cure. Among them genetic counseling is included, which must provide the basis for an informed decision over child gestation. These new technologies imply more and more usual and complex ethical issues. What to do
Journal of Genetics | Indian Academy of Sciences
Indian Academy of Sciences (India)
Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of the world. We studied histopathological, chromosomal and molecular-genetic data of two retinoblastoma patients from India. The two patients, one with bilateral and the other with unilateral ...
Counseling Older Japanese American Clients: An Overview and Observations.
Itai, Goro; McRae, Cynthia
1994-01-01
Discusses important aspects of providing counseling to older Japanese American clients, including ethical issues based on cultural differences and nontraditional approaches to counseling. Examines unique historical and cultural characteristics of these clients. Includes 26 citations. (Author/CRR)
Kobayashi, Yoko; Boudreault, Patrick; Hill, Karin; Sinsheimer, Janet S; Palmer, Christina G S
2013-11-25
Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers' unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience's needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design's effectiveness in recruiting a culturally and linguistically diverse sample. 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically-based locations (Place). English-users were
Enhancing the Evidence for Behavioral Counseling
Alcántara, Carmela; Klesges, Lisa M.; Resnicow, Ken; Stone, Amy; Davidson, Karina W.
2015-01-01
U.S. Preventive Services Task Force (USPSTF) clinical guidelines at present rarely assign the highest grade recommendation to behavioral counseling interventions for chronic disease prevention or risk reduction because of concerns about the certainty and quality of the evidence base. As a result, the broad integration of behavioral counseling interventions in primary care remains elusive. Thus, there is an urgent need for novel perspectives on how to generate the highest-quality and -certainty evidence for primary care–focused behavioral counseling interventions. As members of the Society of Behavioral Medicine (SBM)—a multidisciplinary scientific organization committed to improving population health through behavior change—we review the USPSTF mandate and current recommendations for behavioral counseling interventions, and provide a perspective for the future that calls for concerted and coordinated efforts among SBM, USPSTF, and other organizations invested in the rapid and wider uptake of beneficial, feasible, and referable primary care–focused behavioral counseling interventions. This perspective highlights five areas for further development, including: (1) behavioral counseling–focused practice-based research networks; (2) promotion of USPSTF evidence standards and the increased use of pragmatic RCT design; (3) quality control and improvement procedures for behavioral counseling training; (4) systematic research on effective primary care–based collaborative care models; and (5) methodologic innovations that capitalize on disruptive technologies and healthcare transformation. Collective efforts to improve the health of all Americans in the 21st century and beyond must ensure that effective, feasible, and referable behavioral counseling interventions are embedded in modern primary care practice. PMID:26296553
Paediatrician knowledge, attitudes, and counselling patterns on teen driving.
Weiss, Jeffrey C; O'Neil, Joseph; Shope, Jean T; O'Connor, Karen G; Levin, Rebecca A
2012-02-01
Motor vehicle crashes (MVCs) are the leading cause of death among teenagers. Little is known about the content of US paediatrician counselling about teen driving. To examine US paediatrician knowledge, attitudes, and counselling patterns regarding teen driving. A random sample questionnaire was mailed to American Academy of Pediatrics members in 2009 (n=1606; response=875 (55%)). Analysis was limited to 596 paediatricians who provide adolescent checkups. Questions addressed counselling and attitudes towards roles in promoting safe driving. Logistic regression assessed the relationship between counselling topics and practice characteristics. Most (89%) respondents provide some counselling about driving. Two topics commonly discussed by paediatricians were seatbelts (87%) and alcohol use (82%). Less frequently discussed were: cell phones (47%), speeding (43%), and dangers of transporting teen passengers (41%). Topics rarely discussed were: night driving (21%), graduated driver licensing laws (13%), safe cars (9%), driver education (9%), fatigue (25%), and parental limit setting (23%). Only 10% ever recommend a parent-teen driver agreement. Paediatricians who had a patient injured or killed in an MVC were more likely to discuss night driving (OR=2.86). Physicians caring for a high proportion of adolescents (OR=1.83) or patients with private insurance (OR=1.85) counsel more about the risks of driving with teen passengers. Paediatricians in the USA support counselling on teen driving during routine office visits, but omit many important risk factors. Few recommend parent-teen driver agreements. Methods that help clinicians efficiently and effectively counsel families about teen driving should be developed.
HUD Approved Housing Counseling Agencies
Department of Housing and Urban Development — HUD sponsors housing counseling agencies throughout the country that can provide advice on buying a home, renting, defaults, foreclosures, and credit issues. This...
Counseling in teacher education
DEFF Research Database (Denmark)
Mølgaard, Dorthe Busk
Counseling is about supporting and challenging students in making decisions, being adaptive, seeing opportunities and acquiring self-knowledge. Literaturesearch of articles about counseling research in nordic teacher education 2008-2013 shows no results. We started a participant-orientated pilotp......Counseling is about supporting and challenging students in making decisions, being adaptive, seeing opportunities and acquiring self-knowledge. Literaturesearch of articles about counseling research in nordic teacher education 2008-2013 shows no results. We started a participant......-orientated pilotproject about counseling in teacher education. The aim was to acquire knowledge about how students perceive counseling. This knowledge could help uncover potential areas of development for counselingpractice. In the pilotproject it is tested if the chosen method is suitable for bigger qualitative study....... The study is a qualitative questionnaire survey. The “lifeworld” is central, therefore a phenomenological and hermeneutical approach was chosen, where the student’s perception of the counseling is studied. Central themes: Setting of the counseling and progress of the counselingcourse, content and shape...
Ashida, Sato; Hadley, Donald W.; Goergen, Andrea F.; Skapinsky, Kaley F.; Devlin, Hillary C.; Koehly, Laura M.
2011-01-01
Purpose: This study evaluates the role of older family members as providers of social resources within familial network systems affected by an inherited cancer susceptibility syndrome. Design and Methods: Respondents who previously participated in a study that involved genetic counseling and testing for Lynch syndrome and their family network…
CYBER COUNSELING ASSISTED WITH FACEBOOK TO REDUCE ONLINE GAME ADDICTION
Directory of Open Access Journals (Sweden)
Hardi Prasetiawan
2016-06-01
Full Text Available Cyber counseling is divided into various shapes, one form is the use of facebook. Guidance and counseling teacher in schools can implement the cyber counseling assited with facebook to reduce online game addiction the students who are more likely to prefer to communicate by text relationship, and students who do not feel comfortable with counseling services by face to face. Problems of children who are addicted Online Games at school require a relief to effort with Group Counseling assited with facebook services for addressing and alleviating the problems experienced, both personal and social through cyber counseling. The positive impact of service delivery cyber counseling assited with facebook is not out of the role from well counselors as providers to service with the active role of students while finding information on social media like Facebook, so socializing continually needs to be implemented further Keyword : Cyber Counseling, Facebook, Online Game Addiction
CYBER COUNSELING ASSISTED WITH FACEBOOK TO REDUCE ONLINE GAME ADDICTION
Directory of Open Access Journals (Sweden)
Hardi Prasetiawan
2016-06-01
Full Text Available Cyber counseling is divided into various shapes, one form is the use of facebook. Guidance and counseling teacher in schools can implement the cyber counseling assited with facebook to reduce online game addiction the students who are more likely to prefer to communicate by text relationship, and students who do not feel comfortable with counseling services by face to face. Problems of children who are addicted Online Games at school require a relief to effort with Group Counseling assited with facebook services for addressing and alleviating the problems experienced, both personal and social through cyber counseling. The positive impact of service delivery cyber counseling assited with facebook is not out of the role from well counselors as providers to service with the active role of students while finding information on social media like Facebook, so socializing continually needs to be implemented furtherKeyword : Cyber Counseling, Facebook, Online Game Addiction
Revisiting relationships between sex-related variables and continuation in counseling.
Hatchett, Gregory T; Park, Heather L
2004-04-01
This study examined the relationships between three sex-related variables (client sex, therapist sex, and dyad matching on sex) and continuation in counseling. 245 college students who were clients at three university counseling centers participated. Consistent with previous studies, women comprised 68.2% of the clients seeking services at these counseling centers. Clients' sex was significantly related to counseling duration, explaining 2.2% of the common variance. Female clients, on the average, attended 1.8 more sessions than male clients. However, neither the therapists' sex nor dyad matching on sex was significantly related to the duration of counseling. None of the sex-related variables correlated with premature termination of counseling. The results have implications for providing counseling and outreach services to male students. Despite relatively equivalent rates in the incidence of mental health problems, female students continue to comprise the majority of clients. Therefore, university counseling centers need to communicate their services better to male students in need of mental health services.
Introduction of a university-based counselling service for older adults.
Bhar, Sunil S; Silver, Mark
2014-03-01
Despite the growing number of older adults in Australia, many do not access counselling, partly because of the lack of trained mental health professionals for older people. This paper describes an innovative solution for providing counselling services to older adults, and geropsychology training to postgraduate psychology students. A university-based counselling clinic for older adults was described – an outreach service for older adults living in the community or in residential aged care facilities in metropolitan Melbourne, Australia. Over its first 13 months, the clinic provided a total of 266 sessions of counselling to 57 clients (41 living in residential aged care), and involved six postgraduate students. This paper describes the potential benefits of the clinic for clients and students and the resources needed to support this model of service delivery. Thus, it provides a blueprint for other universities for developing similar services for older adults.
4. mothers' perception of infant feeding counselling in the context
African Journals Online (AJOL)
RICHY
we asked for this research was: how does the information provided in counselling ... Keywords: Exclusive breastfeeding, Formula feeding, Infant feeding counselling .... mothers the competitive advantages of breastfeeding and other available ...
Molecular genetics of inherited eye disorders.
MacDonald, I M; Sasi, R
1994-10-01
In the past 10 y, there have been considerable advances in the mapping, isolation, and characterization of many genes for important ocular conditions: retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, aniridia, retinoblastoma, and others. The candidate gene approach has now supplemented classical linkage studies and positional cloning in the investigation of ocular disorders. Developmentally expressed genes and animal models have provided insights as to the etiology of other disorders. With this knowledge at hand, genetic counselling for heritable eye diseases has been greatly improved.
Duty to disclose in medical genetics: a legal perspective.
Pelias, M Z
1991-06-01
As technical knowledge and public information in medical genetics continue to expand, the geneticist may expect to be held responsible for informing patients and clients about new developments in research and diagnosis. The long legal evolution of the physician's duty to disclose, and more recent findings of a physician's duty to recall former patients to inform them about newly discovered risks of treatment, indicate that medical geneticists may have a duty to disclose both current and future information about conditions that are or could be inherited. Recent case law supports findings of professional liability for both present and future disclosure, even in the absence of an active physician-patient relationship. The requirement of candid and complete disclosure will affect the counseling approach in testing for deleterious genes and in providing medical treatment for minors with hereditary diseases. Finding a duty to recall may impose further professional burdens on the geneticist to reach beyond the immediate counseling arena and to recontact patients, perhaps years after their initial visit to genetics clinic.
López-Hernández, L B; Gómez-Díaz, B; Escobar-Cedillo, R E; Gama-Moreno, O; Camacho-Molina, A; Soto-Valdés, D M; Anaya-Segura, M A; Luna-Padrón, E; Zúñiga-Guzmán, C; Lopez-Hernández, J A; Vázquez-Cárdenas, N A; Sánchez-Chapul, L; Rangel-Villalobos, H; Canto, P; López-Cardona, M G; García, S; Méndez-Covarrubias, G; Coral-Vázquez, R M
2014-01-01
Multidisciplinary management of Duchenne Muscular Dystrophy (DMD) has achieved outstanding results in developed nations. We aimed to describe the status of diagnosis and management of DMD in a developing country through the experience of non-profit organizations. A Multistate, multiple-source, population-based survey was performed from medical records of 432 patients. Data were retrospectively collected, reviewed and curated by health specialists; including clinical features, age at first symptoms, age at diagnosis, disease progression and management, family history, education, age and cause of death. There is a delay in noticing first symptoms and it did not diminish over the past 20 years. Less than 30% of patients obtained definite diagnosis and most of them are in physiotherapy programs but not under steroid treatment. In our study, family history does not anticipate recognition of symptoms compared to sporadic cases (p = 0.05). Approximately 93.33% of our patients attended to education programs. Mean age at death was 18.94 +/- 6.73 years and the most frequent cause was pneumonia. Delayed diagnosis of DMD in Mexico is mainly caused by the late detection of first symptoms. There is no difference in early detection of symptoms between familiar and sporadic cases. Lifespan of patients in our cohort is reduced compared to developed countries. The late diagnosis and low percentage of definite cases may affect patient management and genetic counseling and could also preclude participation of patients into novel clinical trials.
Genetics of Gigantism and Acromegaly
Hannah-Shmouni, Fady; Trivellin, Giampaolo; Stratakis, Constantine A.
2016-01-01
Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Over the past two decades, our increasing understanding of the molecular and genetic etiologies of pituitary gigantism and acromegaly yielded several genetic causes, including multiple endocrine neoplasia type 1 and 4, McCune-Albright syndrome, Carney complex, familial isolated pituitary adenoma, pituitary adenoma association due to defects in familial succinate dehydrogenase genes, and the recently identified X-linked acrogigantism. The early diagnosis of these conditions helps guide early intervention, screening, and genetic counseling of patients and their family members. In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. PMID:27657986
Genetics of gigantism and acromegaly.
Hannah-Shmouni, Fady; Trivellin, Giampaolo; Stratakis, Constantine A
Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Over the past two decades, our increasing understanding of the molecular and genetic etiologies of pituitary gigantism and acromegaly yielded several genetic causes, including multiple endocrine neoplasia type 1 and 4, McCune-Albright syndrome, Carney complex, familial isolated pituitary adenoma, pituitary adenoma association due to defects in familial succinate dehydrogenase genes, and the recently identified X-linked acrogigantism. The early diagnosis of these conditions helps guide early intervention, screening, and genetic counseling of patients and their family members. In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly. Published by Elsevier Ltd.
PENGEMBANGAN MODEL PEER COUNSELING SEBAGAI MEDIA PENGALAMAN PRAKTIK KONSELING
Directory of Open Access Journals (Sweden)
muslikah muslikah
2017-03-01
Full Text Available Practical experience is an important component of counselor education program. Through the experience student counseling practice, counselor candidate given the experience to apply the skills and knowledge they acquired in the lecture. Peer Counseling in this research defined as the involvement of youth in peer groups to provide particular input for the development of personality and social of adolescents. Thus, peer counseling can be utilized in the process of lectures, so counselors candidate can be optimized to obtain practical experience supervised by a professional counselor. This research aims to develop a peer counseling model as an experience counseling practice media in basic skills counseling subject. The design used is research and development. Subjects were students of BK FIP UNNES. Data collected through in-depth interviews, questionnaires and document studies. Data analysis technique used is interactive model of Miles and Huberman. Results of the research is a model of peer counseling as an experience counseling practice media in basic skills of counseling subject include: (a rational, (b Definition, (c Interest, (d assuming, (e materials, (f the stages of peer counseling implementation, (g the evaluation and succes indicators, and function of group members, (h the phase of the service, (i the evaluation and follow-up. Based on results expert validation obtained that the model is feasible and can be applied.
Directory of Open Access Journals (Sweden)
Swati Tomar
Full Text Available Retinoblastoma (RB is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays. Screening of both blood and tumor samples yielded a mutation detection rate of 94.9% (56/59 while only 42.4% (25/59 of mutations were detected if blood samples alone were analyzed. Biallelic mutations were observed in 43/59 (72.9% of tumors screened. There were 3 cases (5.1% in which no mutations could be detected and germline mutations were detected in 19.5% (8/41 of unilateral cases. A total of 61 point mutations were identified, of which 10 were novel. There was a high incidence of previously reported recurrent mutations, occurring at 38.98% (23/59 of all cases. Of interest were three cases of mosaic RB1 mutations detected in the blood from patients with unilateral retinoblastoma. Additionally, two germline mutations previously reported to be associated with low-penetrance phenotypes: missense-c.1981C>T and splice variant-c.607+1G>T, were observed in a bilateral and a unilateral proband, respectively. These findings have implications for genetic counselling and risk prediction for the affected families. This is the first published report on the spectrum of mutations in RB patients from Singapore and shows that further improved mutation screening strategies are required in order to provide a definitive molecular diagnosis for every case of RB. Our findings also underscore the importance of genetic testing in supporting individualized disease management plans for patients and
Research Note--A Pilot Cyber Counseling Course in a Graduate Social Work Program
Mishna, Faye; Tufford, Lea; Cook, Charlene; Bogo, Marion
2013-01-01
Cyber counseling is a new and growing medium for offering mental health services to children and youth. However, there is a lack of identification of the core competencies required to provide effective online counseling. A school of social work, in partnership with a national service agency providing online counseling to children and youth,…
The 'reformation' of counselling
Directory of Open Access Journals (Sweden)
G.A. Lotter
2001-08-01
Full Text Available Although the Reformation took place some four hundred years ago, one area in which reformation is really needed today is the counselling of people. Since Wilhelm Wundt started the “study of the mind” in 1879, William James and Sigmund Freud followed and secular psychology gradually has developed to take the “front seat”; hence moving Biblical counselling, which has been practised since the times of the New Testament, to the “back burner”. This development had been going on for the greater part of the 20th century, up to the publication of Competent to Counsel by Jay E. Adams in 1970. In the model for counselling suggested by Adams, the principles of the Reformation of the sixteenth century, Soli Deo Gloria, Soli Scriptura, Soli Fidei, Sola Gratia, etc. were again implemented in assisting and counselling people with personal and interpersonal problems. The epistomological and anthropological approach of secular psychology differs radically from that of Biblical principles, thus necessitating a new “reformation” of counselling. Within this new form counselling, inter alia, implies the following: the Word of God has its rightful place, sin has to be taken seriously and the work of the Holy Spirit should be recognised. In this article it is proposed that the “reformation” of counselling was started by scholars with a Biblical Reformational approach and that this method of counselling followed the parameters of the Reformation of the sixteenth century. This “reformation” developed into a new direction in counselling and still continues today with fascinating new frontiers opening up for Biblical counselling.
The ethics of complexity. Genetics and autism, a literature review.
Hens, Kristien; Peeters, Hilde; Dierickx, Kris
2016-04-01
It is commonly believed that the etiology of autism is at least partly explained through genetics. Given the complexity of autism and the variability of the autistic phenotype, genetic research and counseling in this field are also complex and associated with specific ethical questions. Although the ethics of autism genetics, especially with regard to reproductive choices, has been widely discussed on the public fora, an in depth philosophical or bioethical reflection on all aspects of the theme seems to be missing. With this literature review we wanted to map the basic questions and answers that exist in the bioethical literature on autism genetics, research, counseling and reproduction, and provide suggestions as to how the discussion can proceed. We found 19 papers that fitted the description of "bioethics literature focusing on autism genetics," and analyzed their content to distill arguments and themes. We concluded that because of the complexity of autism, and the uncertainty with regard to its status, more ethical reflection is needed before definite conclusions and recommendations can be drawn. Moreover, there is a dearth of bioethical empirical studies querying the opinions of all parties, including people with autism themselves. Such empirical bioethical studies should be urgently done before bioethical conclusions regarding the aims and desirability of research into autism genes can be done. Also, fundamental philosophical reflection on concepts of disease should accompany research into the etiology of autism. © 2016 Wiley Periodicals, Inc.
How do providers discuss the results of pediatric exome sequencing with families?
Walser, Sarah A; Werner-Lin, Allison; Mueller, Rebecca; Miller, Victoria A; Biswas, Sawona; Bernhardt, Barbara A
2017-09-01
This study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects. We recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis. Typically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts. We identified four provider processes for returning results: teaching genetic concepts; assessing family response; personalizing findings; and strengthening patient-provider relationships. Sessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.
Task-shifting HIV counselling and testing services in Zambia: the role of lay counsellors
Directory of Open Access Journals (Sweden)
Kapanda Paul
2009-05-01
Full Text Available Abstract Background The human resource shortage in Zambia is placing a heavy burden on the few health care workers available at health facilities. The Zambia Prevention, Care and Treatment Partnership began training and placing community volunteers as lay counsellors in order to complement the efforts of the health care workers in providing HIV counselling and testing services. These volunteers are trained using the standard national counselling and testing curriculum. This study was conducted to review the effectiveness of lay counsellors in addressing staff shortages and the provision of HIV counselling and testing services. Methods Quantitative and qualitative data were collected by means of semistructured interviews from all active lay counsellors in each of the facilities and a facility manager or counselling supervisor overseeing counseling and testing services and clients. At each of the 10 selected facilities, all counselling and testing record books for the month of May 2007 were examined and any recordkeeping errors were tallied by cadre. Qualitative data were collected through focus group discussions with health care workers at each facility. Results Lay counsellors provide counselling and testing services of quality and relieve the workload of overstretched health care workers. Facility managers recognize and appreciate the services provided by lay counsellors. Lay counsellors provide up to 70% of counselling and testing services at health facilities. The data review revealed lower error rates for lay counsellors, compared to health care workers, in completing the counselling and testing registers. Conclusion Community volunteers, with approved training and ongoing supervision, can play a major role at health facilities to provide counselling and testing services of quality, and relieve the burden on already overstretched health care workers.
Attitude to rehabilitative counselling in southwestern Nigerian prisons.
A Alao, Kayode; F Adebowale, Olusegun
2014-01-01
The purpose of this paper was to examine the attitudes of prison inmates and warders (prison staff) to rehabilitative counselling and its relationship to their prison status on one hand and their educational attainment on the other. The study adopts a descriptive survey research design. In all 123 prison inmates and 110 warders were selected by stratified random sampling from Osogbo prison headquarters, as well as Ilesa and Ile-Ife prisons in southwestern Nigeria. Data were collected through a self-constructed questionnaire titled "inmate and prison staff attitude to rehabilitation counselling". Data collected were analysed using percentages and χ2 statistics. The results showed that the prison inmates and staff possessed positive attitude to rehabilitative counselling. No significant difference was found between the attitudes of prison inmates and staff members or on the basis of their prison statuses. However, the study found a significant relationship between the prison inmates' attitude to rehabilitative counselling and their educational attainment. Research LIMITATIONS/IMPLICATIONS: Statutory provision needs be made for professional rehabilitative counselling in Nigerian prisons in contrast to the religious instructions currently being allowed prisoners. Educational opportunities should be provided to ensure that the knowledge so obtained complements the rehabilitative counselling. Originality/value - This paper fulfils an identified need to study the attitude towards rehabilitative counselling.
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.7100... Bill-Active Duty) Counseling § 21.7100 Counseling. A veteran or servicemember may receive counseling from VA before beginning training and during training. (a) Purpose. The purpose of counseling is (1) To...
Kimberlin, Carole L; Jamison, Allison Newland; Linden, Stephan; Winterstein, Almut G
2011-01-01
To determine the amount and type of oral counseling given to shoppers posing as new patients with new prescriptions and to determine how state regulations, pharmacy and pharmacist characteristics, and environmental factors affect oral counseling practices. Cross-sectional, observational, correlational study. 41 states and the District of Columbia between January 28 and March 31, 2008. 365 community pharmacy staff members had interactions with shopper-patients. Shoppers presented new prescriptions in community pharmacies and recorded observations related to oral communication with pharmacy staff. Oral provision of medication information and risk information to shoppers by pharmacy staff, as well as questions asked of shoppers by pharmacy staff. Some form of oral communication related to a medication was reported in 68% of encounters. At least one informational item for either medication was provided for approximately 42% of encounters. At least one risk information item was provided in 22% of encounters. Logistic regression findings indicated that the strongest predictor of oral counseling, either providing information or asking questions, was the pharmacist being the pharmacy staff member who handed the medication to the patient, controlling for all other variables in the models. In addition, having strict state regulations specifying that pharmacists must counsel all patients receiving new prescriptions predicted whether patients received counseling. A more private area for prescription pick up also was a significant predictor. The importance of the direct encounter between the pharmacist and patient and strict state regulations mandating that pharmacists counsel patients with new prescriptions were highlighted by these findings.
Directory of Open Access Journals (Sweden)
Angela M. Trepanier
2016-03-01
Full Text Available The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC syndrome testing. The first initiative targeted select providers who had diagnosed patients meeting HBOC risk criteria. Specifically, the initiative used 2008–2009 state cancer registry data to identify all providers who had diagnosed breast cancers in women ≤50 years of age, male breast cancers, and ovarian cancers in four health systems with newly established cancer genetics clinics. Using a method coined bidirectional reporting (BDR, reports highlighting how many of these cases each provider had seen were generated and mailed. Reports on 475 cancers (9.5% of the 5005 cases statewide meeting criteria were sent to 69 providers with information about how and why to refer such patients for genetic counseling. Providers who received a report were contacted to assess whether the reports increased awareness or resulted in action (genetic counseling/referral. Based on the few responses received, despite multiple attempts to contact, and attrition rate, it is not possible to ascertain the impact of this initiative on providers. However the project resulted in the MDHHS identifying which providers see the largest proportion of at-risk patients, creating an opportunity to target those providers with HBOC education efforts. The second initiative involved creating and broadly disseminating an online, interactive case-based educational module to increase awareness and referral decisions for HBOC using high- and low-risk patient scenarios. A total of 1835 unique users accessed the module in a one year. Collectively the users viewed topic pages 2724 times and the interactive case studies 1369 times. Point of care tools (fact sheets were viewed 1624 times and downloaded 764 times. Satisfaction
Young, Charles
2009-01-01
This paper provides CORE-OM intake norms for a South African university counseling service, and compares these to the United Kingdom counseling service data reported by Connell, Barkham and Mellor-Clark (2007). The South African norms are very similar to the United Kingdom norms, with no statistical differences in the total or domain scores. There…
Genetic disorders from an endogamous population
African Journals Online (AJOL)
Abdulbari Bener
b Dept. of Evidence for Population Health Unit, School of Epidemiology and Health Sciences, University of Manchester, Manchester, UK ... genetics counseling and screening for the hereditary diseases programme. Results: The ..... Elementary.
Less counseling on Early Childhood Caries transmission by dentists
Milgrom, Peter; Huebner, Colleen E.; Mancl, Lloyd; Garson, Gayle; Grembowski, David
2013-01-01
Objective High levels of Streptococcus mutans on teeth of young children are predictive of Early Childhood Caries (ECC). Transmission from mother-to-child is common and studies have demonstrated treatment of the mother results in less ECC. The objective of this study was to determine how dentists have adopted the practice of counseling about ECC. Methods In 2006 as part of a larger study on dental care for pregnant women, we surveyed 829 general dentists in Oregon. The questionnaire contained questions to capture the extent to which general dentists have adopted counseling pregnant women about ECC transmission, to describe personal and practice characteristics, and examine how dentists' views on the ease of adopting of new procedures related to ECC counseling. Multivariate logistic regression was used to identify separate and additive effects of demographic and practice characteristics, attitudes, and beliefs. Results The adjusted odds of a dentist who strongly believed in the link between mothers and babies and provided ECC counseling were 1.60 (95% CI 1.3-2.0, P<0.01). The odds of a dentist who reported discussing ECC with staff members and provided counseling were 2.7 (95% CI 1.7-4.3, P<0.01). Male dentists were less likely to counsel patients than female dentists (Adjusted OR = 0.5, 95% CI 0.3-1.0, p<0.05). Conclusions The strongest predictors of counseling patients about ECC were dentists' belief in the evidence of caries transmission and dentists' discussion of ECC during staff meetings. PMID:22970775
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Einsiedel Edna
2009-06-01
Full Text Available Abstract Background With a growing number of genetic tests becoming available to the health and consumer markets, genetic health care providers in Canada are faced with the challenge of developing robust decision rules or guidelines to allocate a finite number of public resources. The objective of this study was to gain Canadian genetic health providers' perspectives on factors and criteria that influence and shape resource allocation decisions for publically funded predictive genetic testing in Canada. Methods The authors conducted semi-structured interviews with 16 senior lab directors and clinicians at publically funded Canadian predictive genetic testing facilities. Participants were drawn from British Columbia, Alberta, Manitoba, Ontario, Quebec and Nova Scotia. Given the community sampled was identified as being relatively small and challenging to access, purposive sampling coupled with snowball sampling methodologies were utilized. Results Surveyed lab directors and clinicians indicated that predictive genetic tests were funded provincially by one of two predominant funding models, but they themselves played a significant role in how these funds were allocated for specific tests and services. They also rated and identified several factors that influenced allocation decisions and patients' decisions regarding testing. Lastly, participants provided recommendations regarding changes to existing allocation models and showed support for a national evaluation process for predictive testing. Conclusion Our findings suggest that largely local and relatively ad hoc decision making processes are being made in relation to resource allocations for predictive genetic tests and that a more coordinated and, potentially, national approach to allocation decisions in this context may be appropriate.
Shiloh, S; Koehly, L; Jenkins, J; Martin, J; Hadley, D
2008-08-01
The emotional effects of genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) provided within a counseling program were assessed among 253 individuals. Assessments were scheduled at baseline before testing, and again after 6 and 12 months post-test. Negative emotional reactions were evaluated using the Revised Impact of Event Scale and the Center for Epidemiological Studies-Depression Scale. Monitoring coping style was assessed at baseline using the Miller Behavioral Style Scale. Mean reductions were indicated in distress and depression levels within the first 6 months after counseling and testing. High monitors were generally more distressed than low monitors, specifically if they had indeterminate or positive results. Genetic counseling and testing for HNPCC do not result in long-term distress for most people. Of the variables investigated, only time and coping style have main effects on emotional reactions, and the impacts of mutation status are moderated by coping style. Psychological interventions, aimed to alleviate adverse emotional effects, were suggested for certain participants, i.e. recipients of positive or indeterminate results who are high monitors.
Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.
2012-01-01
OBJECTIVES: Counseling about prenatal testing for congenital abnormalities has become an increasing part of obstetric care in the Netherlands (Wiegers and Hingstman, 2008). During the past decade many changes have taken place in medical-technical and social-cultural areas as well as in health care
Genetic counselors' views and experiences with the clinical integration of genome sequencing.
Machini, Kalotina; Douglas, Jessica; Braxton, Alicia; Tsipis, Judith; Kramer, Kate
2014-08-01
In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g., genetic counselors, geneticists and nurse practitioners). Two hundred twenty-one genetic counselors- one third of whom currently offer WES/WGS-participated in an anonymous online survey. The aims of the survey were first, to identify barriers to the implementation of WES/WGS, as perceived by survey participants; second, to provide the first systematic report of current practices regarding the integration of WES/WGS in clinic and/or research across the US and Canada and to illuminate the roles and challenges of genetic counselors participating in this process; and third to evaluate the impact of WES/WGS on patient care. Our results showed that genetic counseling practices with respect to WES/WGS are consistent with the criteria set forth in the ACMG 2012 policy statement, which highlights indications for testing, reporting, and pre/post test considerations. Our respondents described challenges related to offering WES/WGS, which included billing issues, the duration and content of the consent process, result interpretation and disclosure of incidental findings and variants of unknown significance. In addition, respondents indicated that specialty area (i.e., prenatal and cancer), lack of clinical utility of WES/WGS and concerns about interpretation of test results were factors that prevented them from offering this technology to patients. Finally, study participants identified the aspects of their professional training which have been most beneficial in aiding with the integration of
Writing for Publication: A Guide for Counseling Practice Articles
Falco, Lia D.; McCarthy, Christopher J.
2013-01-01
Practice articles are critical to scholarship in the counseling field. This article provides readers with practical guidelines for the content and organization of practice articles, with the broad objective of developing a framework for presenting such contributions that may be consistently utilized within the counseling literature. A consistent…
An Evaluation of Guidance and Counselling Services Offered to ...
African Journals Online (AJOL)
This paper sought to evaluate the guidance and counselling services offered to students in Gwanda urban and peri-urban secondary schools. Guidance and counselling is regarded as a programme and service in the education system, providing advice with regards to students' education, career planning, social issues or ...
Vallis, Michael
2013-02-01
The purpose of this article is to operationalize behaviour change counselling skills (motivation enhancement, behaviour modification, emotion management) that facilitate self-management support activities and evaluate the psychometric properties of an expert rater scale, the Behaviour Change Counselling Scale (BCCS). Twenty-one healthcare providers with varying levels of behaviour change counselling training interviewed a simulated patient. Videotapes were independently rated by 3 experts on 2 occasions over 6 months. Data on item/subscale characteristics, interrater and test-retest reliability, preliminary data on construct reliability, were reported. All items of the BCCS performed well with the exception of 3 that were dropped due to infrequent endorsement. Most subscales showed strong psychometric properties. Interrater and test-retest reliability coefficients were uniformly high. Competency scores improved significantly from pre- to posttraining. Behaviour change counselling skills to guide lifestyle interventions can be operationalized and assessed in a reliable and valid manner. The BCCS can be used to guide clinical training in lifestyle counselling by operationalizing the component skills and providing feedback on skill achieved. Further research is needed to establish cut scores for competency and scale construct and criterion validity. Copyright © 2013 Canadian Diabetes Association. Published by Elsevier Inc. All rights reserved.
Contextualising eating problems in individual diet counselling.
Kristensen, Søren T; Køster, Allan
2014-05-01
Health professionals consider diet to be a vital component in managing weight, chronic diseases and the overall promotion of health. This article takes the position that the complexity and contextual nature of individual eating problems needs to be addressed in a more systematic and nuanced way than is usually the case in diet counselling, motivational interviewing and health coaching. We suggest the use of narrative practice as a critical and context-sensitive counselling approach to eating problems. Principles of externalisation and co-researching are combined within a counselling framework that employs logistic, social and discursive eating problems as analytic categories. Using cases from a health clinic situated at the Metropolitan University College in Copenhagen, we show that even if the structural conditions associated with eating problems may not be solvable through individual counselling sessions, exploration of the complex structures of food and eating with the client can provide agency by helping them navigate within the context of the problem. We also exemplify why a reflexive and critical approach to the way health is perceived by clients should be an integrated part of diet counselling.
Use of counselling services by school-attending adolescent girls in Nigeria.
Azfredrick, Ezinwanne Christiana
2015-01-01
The purpose of this study was to examine the predictors and barriers to the use of school counselling services by school attending adolescent girls in south-east Nigeria. The study used a cross-sectional survey of 3065 adolescent girls, using a self-report counselling utilisation scale. Data were analysed using both descriptive and inferential statistics. About 80% of the participants had school counsellors and nearly half of the participants utilised the service. Regression results showed that father's level of education, availability of a counselling laboratory/room, contentment with the counselling services rendered predicted the use of the counselling service. Some of the barriers for non-use of school counselling services were shyness, fear and lack of confidentiality. School authorities will encourage uptake of counselling services by adolescents when adequate counselling consulting rooms are provided. This will increase confidence in adolescent clients and reduce fear attached to use of these services. This will improve their mental health and their academic performance.
Genetics of pulmonary hypertension in the clinic.
Girerd, Barbara; Lau, Edmund; Montani, David; Humbert, Marc
2017-09-01
Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes. Heritable pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD/PCH) is an autosomal recessive disease because of biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene. The 2015 european society of cardiology (ESC) and european respiratory society (ERS) pulmonary hypertension guidelines recommend genetic counselling and testing to adults and children with PAH or PVOD/PCH as well as in adult relatives at risk of carrying a predisposing mutation. In France, genetic counseling and testing are offered to all patients displaying sporadic or familial form of PAH or PVOD/PCH and to their relatives at high risk of carrying a predisposing mutation. Patients with a heritable form of PAH are younger at diagnosis with a worse hemodynamic and a dismal prognosis. Patients with a heritable form of PVOD/PCH are younger at diagnosis with a worse response to specific PAH therapies. A program to detect PAH in an early phase was offered to all asymptomatic BMPR2 mutation carriers, according to the 2015 ESC/ERS guidelines. Finally, preimplantation genetic diagnosis has been performed in families with a history of BMPR2 mutations. Genetic counseling and testing has to be implemented in pulmonary hypertension centers.
Genetics of ischaemic stroke in young adults
Terni, Eva; Giannini, Nicola; Brondi, Marco; Montano, Vincenzo; Bonuccelli, Ubaldo; Mancuso, Michelangelo
2015-01-01
Background: Stroke may be a clinical expression of several inherited disorders in humans. Recognition of the underlined genetic disorders causing stroke is important for a correct diagnosis, for genetic counselling and, even if rarely, for a correct therapeutic management. Moreover, the genetics of complex diseases such the stroke, in which multiple genes interact with environmental risk factors to increase risk, has been revolutionized by the Genome-Wide Association Study (GWAS) approach. ...
44 CFR 19.425 - Counseling and use of appraisal and counseling materials.
2010-10-01
... 44 Emergency Management and Assistance 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling materials. 19.425 Section 19.425 Emergency Management and Assistance FEDERAL... Basis of Sex in Education Programs or Activities Prohibited § 19.425 Counseling and use of appraisal and...
28 CFR 54.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 54.425 Section 54.425 Judicial Administration DEPARTMENT OF JUSTICE (CONTINUED... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 54.425 Counseling and use of...
Genetics Home Reference: isolated sulfite oxidase deficiency
... and Management Resources (1 link) GeneReview: Isolated Sulfite Oxidase Deficiency General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...
Islamic approach in counseling.
Hanin Hamjah, Salasiah; Mat Akhir, Noor Shakirah
2014-02-01
A religious approach is one of the matters emphasized in counseling today. Many researchers find that there is a need to apply the religious element in counseling because religion is important in a client's life. The purpose of this research is to identify aspects of the Islamic approach applied in counseling clients by counselors at Pusat Kaunseling Majlis Agama Islam Negeri Sembilan (PKMAINS). In addition, this research also analyses the Islamic approach applied in counseling at PKMAINS with reference to al-Quran and al-Sunnah. This is a qualitative research in the form of case study at PKMAINS. The main method used in this research is interview. The research instrument used is interview protocol. The respondents in this study include 9 counselors who serve in one of the counseling centers in Malaysia. This study also uses questionnaire as an additional instrument, distributed to 36 clients who receive counseling service at the center. The findings of the study show that the Islamic approach applied in counseling at PKMAINS may be categorized into three main aspects: aqidah (faith), ibadah (worship/ultimate devotion and love for God) and akhlaq (moral conduct). Findings also show that the counseling in these aspects is in line with Islamic teachings as contained in al-Quran and al-Sunnah.
Therapy Dogs on Campus: Recommendations for Counseling Center Outreach
Daltry, Rachel M.; Mehr, Kristin E.
2015-01-01
This article describes the design and implementation of a dog therapy outreach program through the counseling center at West Chester University in Pennsylvania. Two main goals were identified for this program: (a) provide stress relief and comfort to students across campus, and (b) increase potential access to counseling services and improve…
40 CFR 5.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 40 Protection of Environment 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 5.425 Section 5.425 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY GENERAL... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 5.425 Counseling and use of...
The Asian American Psychological Association: Parallels and Intersections with Counseling Psychology
Alvarez, Alvin N.; Singh, Anneliese A.; Wu, Jenny
2012-01-01
This article provides an overview of the Asian American Psychological Association (AAPA). A brief history is provided, followed by current status and resources, connections to counseling psychology, and implications for the Society of Counseling Psychology and for the future of the AAPA. AAPA was created in 1972 in response to psychology's neglect…
[Career counselling and choice of speciality
DEFF Research Database (Denmark)
Lillevang, G.; Ringsted, C.
2008-01-01
Career counselling is meant to support and ensure an early and relevant choice of specialty. Self-awareness regarding personality, life goals, wishes for family life, and lifestyle is of help in narrowing down the number of specialties to those that fit personal attitudes and preferences. The cou......Career counselling is meant to support and ensure an early and relevant choice of specialty. Self-awareness regarding personality, life goals, wishes for family life, and lifestyle is of help in narrowing down the number of specialties to those that fit personal attitudes and preferences....... The counsellor must be aware that the trainees' subjective opinions about the specialties may not be in line with the actual conditions. Hence, career counselling should provide factual knowledge about the specialties including information on the working conditions and defining characteristics of the specialties...
2012-10-11
... Proposed Information Collection to OMB Housing Counseling Program AGENCY: Office of the Assistant Secretary... Housing Counseling Program and reference to the NOFA charts were excluded. Nonprofit Housing Counseling... provide housing counseling assistance to eligible homebuyers to find and purchase affordable housing...
DEFF Research Database (Denmark)
Jensen, Lars Henrik; Dysager, Lars; Lindebjerg, Jan
2010-01-01
Lynch syndrome is associated with deficiency of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. However, most MLH1 deficient tumours are sporadic in origin, and they can be identified if harbouring a BRAF V600E mutation or hypermethylation of the MLH1 gene promoter. The aim of this study...... (PMS2 were negative in 29 cases (10%). DNA quality allowed BRAF analysis in 27 of these with 14 mutations and 13 wild-type. DNA quality allowed methylation analysis in 11 of the 13 BRAF wild-type, and all but one were methylated. Subsequently, Lynch syndrome could...... was to validate our previously suggested clinically applicable strategy based on molecular characteristics for identifying which patients to refer for genetic counselling. The strategy was validated in an unselected cohort of 287 colorectal cancer patients. All tumours were tested for MLH1, PMS2, MSH2 and MSH6...
The importance of legal counsel
Directory of Open Access Journals (Sweden)
Betsy Fisher
2017-02-01
Full Text Available At each stage of the resettlement process, the presence of counsel – legal advocates – can help refugees to present their complete cases efficiently and avoid unnecessary rejections. This provides benefits to decision makers as well.
A Maslovian Counseling Method.
Kirkpatrick, J. Stephen
1979-01-01
With Maslow's hierarchy as a basis, the model provides structure for setting goals in counseling cases and overall programs. Different kinds of client concerns are identified, and suggestions are made for using these 14 categories. The article includes specific suggestions for using the model in diagnosis, evaluation, counselor education, and…
The New Face of Genetics: Creating A Multimedia Educational Tool for the Twenty-First Century
Fan, Audrey
In the study of certain genetic conditions, it is important to understand the specific "dysmorphology" associated with them. This describes the unique anatomical manifestations of the genetic condition. Traditionally, students learn about dysmorphology by reading text descriptions or looking at photographs of affected individuals. The New Face of Genetics is a film project that aims to teach students dysmorphology by featuring people who have specific genetic conditions. The goal is to enhance students' understanding of these conditions as well as to impart the humanity and beauty of the people who appear in the film. Students will have the opportunity to see dysmorphic features on the animated human form as well as meet individuals who are living with genetic difference. The target audience includes genetic counseling students and other medical professionals. Three short films were made in this format to demonstrate how this type of educational tool can be made. The featured conditions were Marfan syndrome, Sturge-Weber syndrome and Joubert syndrome. Future work will be carried out by other genetic counseling students who will make additional films based on our templates. A compendium of approximately 20 films will be eventually completed and released to genetic counseling programs and medical schools.
Genetics of monegenic forms of diabetes mellitus
Directory of Open Access Journals (Sweden)
Tamara Leonidovna Kuraeva
2011-03-01
Full Text Available It is universally recognized that autoimmune type 1 diabetes mellitus (DM is not the only form of this disease in children. Increasingly more children andadolescents present with DM2, MODY, and rarer syndromal forms of DM. The actual prevalence of DM other than DM1 in children and adolescentsis unknown but may be estimated at 10%. Despite rare occurrence of genetic syndromes, they collectively account for almost 5% of DM cases amongchildren. The rapid upgrowth of molecular biology opens up a wide range of possibilities for designating various symptom complexes as nosologically selfconsistentforms. New genetic syndromes associated with DM are annually described. It is important both to adequately identify and treat manifestationsand complications of these syndromes in children and to provide relevant medico-genetic counseling and recommendations to the parents.Key words: non-immune diabetes mellitus, MODY, Wolfram syndrome, neonatal, syndromal forms
Genetics of monegenic forms of diabetes mellitus
Directory of Open Access Journals (Sweden)
Tamara Leonidovna Kuraeva
2011-03-01
Full Text Available It is universally recognized that autoimmune type 1 diabetes mellitus (DM is not the only form of this disease in children. Increasingly more children and adolescents present with DM2, MODY, and rarer syndromal forms of DM. The actual prevalence of DM other than DM1 in children and adolescents is unknown but may be estimated at 10%. Despite rare occurrence of genetic syndromes, they collectively account for almost 5% of DM cases among children. The rapid upgrowth of molecular biology opens up a wide range of possibilities for designating various symptom complexes as nosologically selfconsistent forms. New genetic syndromes associated with DM are annually described. It is important both to adequately identify and treat manifestations and complications of these syndromes in children and to provide relevant medico-genetic counseling and recommendations to the parents. Key words: non-immune diabetes mellitus, MODY, Wolfram syndrome, neonatal, syndromal forms
The emergence and evolution of HIV counselling in Zambia: a 25-year history
Simbaya, J.; Moyer, E.
2013-01-01
HIV-related counselling practices have evolved since emerging in Zambia in 1987. Whereas, initially, the goal of HIV counselling was to provide psychological support to the dying and their families, as knowledge about HIV grew, counselling objectives expanded to include behavioural change,
The "ACA Code of Ethics": Articulating Counseling's Professional Covenant
Ponton, Richard F.; Duba, Jill D.
2009-01-01
The "ACA Code of Ethics" (American Counseling Association, 2005) is an articulation of the ever-changing relationship between counseling professionals and society. It provides clear parameters of behaviors to meet the changing needs of the people counselors are called to serve. This article reviews the 2005 "Code" as both a statement of counselor…
Philosophical counselling: Towards a ‘new approach’ in pastoral care and counselling?
Directory of Open Access Journals (Sweden)
Daniel J. Louw
2011-05-01
Full Text Available The practice of pastoral counselling was dominated for several decades by the Rogerian techniques of empathetic listening. To a large extent, healing was predominately related to the realm of feelings (the affective dimension. Rational Emotive Therapy opened up other avenues. However, besides Logotherapy, the realm of meaning and its connectedness to world views and ideas (Plato: forms remained uncharted in many theories for pastoral care and counselling. In this article it was argued that philosophical counselling opens up new avenues for pastoral care and counselling. Philosophical counselling probes into the realm of different schemata of interpretation. A model for the making of a spiritual existential analysis was proposed in order to detect the impact of the Christian spiritual schema of interpretation on the dynamics of existential networking.
Genetic counselors’ implicit racial attitudes and their relationship to communication
Schaa, Kendra L; Roter, Debra L; Biesecker, Barbara B; Cooper, Lisa A; Erby, Lori H
2015-01-01
Objective Implicit racial attitudes are thought to shape interpersonal interactions and may contribute to health care disparities. This study explored the relationship between genetic counselors’ implicit racial attitudes and their communication during simulated genetic counseling sessions. Methods A nationally representative sample of genetic counselors completed a web-based survey that included the Race Implicit Association Test (IAT). A subset of these counselors (n=67) had participated in an earlier study in which they were video recorded counseling Black, Hispanic and non-Hispanic White simulated clients (SC) about their prenatal or cancer risks. The counselors’ IAT scores were related to their session communication through robust regression modeling. Results Genetic counselors showed a moderate to strong pro-White bias on the Race IAT (M=0.41, SD=0.35). Counselors with stronger pro-White bias were rated as displaying lower levels of positive affect (pcommunication (pcommunication in minority client sessions and may contribute to racial disparities in processes of care related to genetic services. PMID:25622081
2013-01-01
Background Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers’ unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience’s needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. Methods The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design’s effectiveness in recruiting a culturally and linguistically diverse sample. Results 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically
43 CFR 41.425 - Counseling and use of appraisal and counseling materials.
2010-10-01
... 43 Public Lands: Interior 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling materials. 41.425 Section 41.425 Public Lands: Interior Office of the Secretary of the Interior... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 41.425 Counseling and use of...
Hanley, Terry; Ersahin, Zehra; Sefi, Aaron; Hebron, Judith
2017-01-01
Online counselling is increasingly being used as an alternative to face-to-face student counselling. Using an exploratory mixed methods design, this project investigated the practice by examining the types of therapeutic goals that 11- to 25-year-olds identify online in routine practice. These goals were then compared to goals identified in…
Genetics Home Reference: chylomicron retention disease
... reflexes (hyporeflexia) and a decreased ability to feel vibrations. Related Information What does it mean if a ... Encyclopedia: Malabsorption General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.7600...) VOCATIONAL REHABILITATION AND EDUCATION Educational Assistance for Members of the Selected Reserve Counseling § 21.7600 Counseling. A reservist may receive counseling from VA before beginning training and during...
Genetic cancer risk assessment in practice
International Nuclear Information System (INIS)
Gruber, S.
2004-01-01
The advent of genetic testing has made a dramatic impact on the management of individuals with inherited susceptibility to cancer and their relatives. Genetic counsel ing, with or without testing, is warranted when clues to familial cancer are recognized. Today, genetic testing for classic cancer genetic syndromes is now the standard of care, and has been complemented by genetic testing for other situations commonly encountered in clinical practice. Genetic testing for colorectal cancer, breast cancer, kidney cancer, thyroid cancer, melanoma, and pancreatic cancer raise important issues about the parameters for testing. Genetic cancer risk assessment can lead to measurable reductions in morbidity and mortality through strategies that rely on surveillance, chemo prevention, and risk-reducing surgery
38 CFR 21.6519 - Eligibility of qualified veterans for employment and counseling services.
2010-07-01
... veterans for employment and counseling services. 21.6519 Section 21.6519 Pensions, Bonuses, and Veterans... employment and counseling services. (a) General. A qualified veteran for whom vocational rehabilitation and achievenment of a vocational goal are reasonably feasible may be provided the employment and counseling...
Easy calculations of lod scores and genetic risks on small computers.
Lathrop, G M; Lalouel, J M
1984-01-01
A computer program that calculates lod scores and genetic risks for a wide variety of both qualitative and quantitative genetic traits is discussed. An illustration is given of the joint use of a genetic marker, affection status, and quantitative information in counseling situations regarding Duchenne muscular dystrophy. PMID:6585139
Vinciguerra, Margherita; Passarello, Cristina; Leto, Filippo; Cassarà, Filippo; Cannata, Monica; Maggio, Aurelio; Giambona, Antonino
2015-04-01
Nearly 1183 different molecular defects of the globin genes leading to hemoglobin variants have been identified (http://globin.bx.psu.edu) over the past decades. The purpose of this study was to report three cases, never described in the literature, of co-inheritance of three β hemoglobin variants with other alterations in globin genes and to evaluate the clinical significance to conduct an appropriate genetic counseling. We report the molecular study performed in three probands and their families, sampling during the screening program conducted at the Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at Villa Sofia-Cervello Hospital in Palermo, Italy. This work allowed us to describe the co-inheritance of three rare β hemoglobin variants with other alterations in globin genes: the β hemoglobin variant Hb Yaounde [β134(H12)Val>Ala], found for the first time in combination with ααα(anti3.7) arrangement, and the β hemoglobin variants Hb Görwihl [β5(A2)Pro>Ala] and Hb City of Hope [β69(E13)Gly>Ser], found both in association with β(0) -thalassemia. The present work emphasizes the importance of a careful evaluation of the hematological data, especially in cases of atypical hematological parameters, to carry out an adequate and complete molecular study and to formulate an appropriate genetic counseling for couples at risk. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.8100... Vietnam Veterans-Spina Bifida and Covered Birth Defects Counseling § 21.8100 Counseling. An eligible child requesting or receiving services and assistance under this subpart will receive professional counseling by VR...
2010-07-01
... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.9580...) VOCATIONAL REHABILITATION AND EDUCATION Post-9/11 GI Bill Counseling § 21.9580 Counseling. An individual may receive counseling from VA before beginning training and during training. VA will apply the provisions of...
Genetics Home Reference: 22q13.3 deletion syndrome
... 5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ... Veltman JA, de Vries BB. Molecular characterisation of patients with subtelomeric 22q ... L, Enns GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of ...
Mmeje, Okeoma; Njoroge, Betty; Akama, Eliud; Leddy, Anna; Breitnauer, Brooke; Darbes, Lynae; Brown, Joelle
2016-01-01
Reproduction is important to many HIV-affected individuals and couples and healthcare providers (HCPs) are responsible for providing resources to help them safely conceive while minimizing the risk of sexual and perinatal HIV transmission. In order to fulfill their reproductive goals, HIV-affected individuals and their partners need access to information regarding safer methods of conception. The objective of this qualitative study was to develop a Safer Conception Counseling Toolkit that can be used to train HCPs and counsel HIV-affected individuals and couples in HIV care and treatment clinics in Kenya. We conducted a two-phased qualitative study among HCPs and HIV-affected individuals and couples from eight HIV care and treatment sites in Kisumu, Kenya. We conducted in-depth interviews (IDIs) and focus group discussions (FGDs) to assess the perspectives of HCPs and HIV-affected individuals and couples in order to develop and refine the content of the Toolkit. Subsequently, IDIs were conducted among HCPs who were trained using the Toolkit and FGDs among HIV-affected individuals and couples who were counseled with the Toolkit. HIV-related stigma, fears, and recommendations for delivery of safer conception counseling were assessed during the discussions. One hundred and six individuals participated in FGDs and IDIs; 29 HCPs, 49 HIV-affected women and men, and 14 HIV-serodiscordant couples. Participants indicated that a safer conception counseling and training program for HCPs is needed and that routine provision of safer conception counseling may promote maternal and child health by enhancing reproductive autonomy among HIV-affected couples. They also reported that the Toolkit may help dispel the stigma and fears associated with reproduction in HIV-affected couples, while supporting them in achieving their reproductive goals. Additional research is needed to evaluate the Safer Conception Toolkit in order to support its implementation and use in HIV care and
Counseling in Malaysia: History, Current Status, and Future Trends
See, Ching Mey; Ng, Kok-Mun
2010-01-01
This article presents an overview of the history of counseling in Malaysia, provides an update of its current status, and discusses some anticipated future trends for the profession in light of recent developments in the country. Counseling in Malaysia began with school guidance in the 1960s and has now achieved recognition as a profession in…
The role and impact of personal faith and religion among genetic service providers.
Geller, Gail; Micco, Ellyn; Silver, Rachel J; Kolodner, Ken; Bernhardt, Barbara A
2009-02-15
This paper describes the impact of genetic service providers' personal faith and religious values on their experiences interacting with colleagues and patients. We surveyed 480 clinical geneticists (MDs), genetic counselors (GCs), and genetic nurses randomly selected from their professional associations, and then interviewed a sample of survey respondents. Outcomes included religiosity, coping with distress through spiritual beliefs, and personal value conflicts (PVCs). Two hundred fourteen providers completed the survey out of an estimated 348 eligible (61% response rate). Importance attributed to regular attendance at religious services ranged from 39% (not at all important) to 27% (very important). Reliance on religion and spiritual beliefs as a source of comfort ranged from 48% (never) to 33% (sometimes or often). Religiosity varied by discipline with 58% of nurses thinking regular attendance at religious services was moderately or very important as compared to 47% of GCs and 30% of MDs (P = 0.006). Ten percent of respondents had difficulty reconciling their own faith with being a genetics professional, 14% felt the need to hide their own faith from their colleagues or patients, 7% thought their professional stance was not consistent with their personal values, and 4% felt ostracized by the genetics community because of their personal beliefs. The experience of such PVCs was positively correlated with religiosity (r = 0.35; P religion among genetics professionals. (c) 2009 Wiley-Liss, Inc.
Malan, Zelra; Mash, Robert; Everett-Murphy, Katherine
2015-08-19
The global epidemic of non-communicable disease (NCDs) has been linked with four modifiable risky lifestyle behaviours, namely smoking, unhealthy diet, physical inactivity and alcohol abuse. Primary care providers (PCPs) can play an important role in changing patient's risky behaviours. It is recommended that PCPs provide individual brief behaviour change counselling (BBCC) as part of everyday primary care. This study is part of a larger project that re-designed the current training for PCPs in South Africa, to offer a standardized approach to BBCC based on the 5 As and a guiding style. This article reports on a qualitative sub-study, which explored whether the training intervention changed PCPs perception of their confidence in their ability to offer BBCC, whether they believed that the new approach could overcome the barriers to implementation in clinical practice and be sustained, and their recommendations on future training and integration of BBCC into curricula and clinical practice. This was a qualitative study that used verbal feedback from participants at the beginning and end of the training course, and twelve individual in-depth interviews with participants once they had returned to their clinical practice. Although PCP's confidence in their ability to counselling improved, and some thought that time constraints could be overcome, they still reported that understaffing, lack of support from within the facility and poor continuity of care were barriers to counselling. However, the current organisational culture was not congruent with the patient-centred guiding style of BBCC. Training should be incorporated into undergraduate curricula of PCPs for both nurses and doctors, to ensure that counselling skills are embedded from the start. Existing PCPs should be offered training as part of continued professional development programmes. This study showed that although training changed PCPs perception of their ability to offer BBCC, and increased their confidence
"Prefacing the Script" as an Ethical Response to State-Mandated Abortion Counseling.
Buchbinder, Mara; Lassiter, Dragana; Mercier, Rebecca; Bryant, Amy; Lyerly, Anne Drapkin
Laws governing abortion provision are proliferating throughout the United States, yet little is known about how these laws affect providers. We investigated the experiences of abortion providers in North Carolina practicing under the 2011 Women's Right to Know Act, which mandates that women receive counseling with specific, state-prescribed information at least 24 hours prior to an abortion. We focus here on a subset of the data to examine one strategy by which providers worked to minimize moral conflicts generated by the counseling procedure. Drawing on Erving Goffman's work on language and social interaction, we highlight how providers communicated moral objections and layered meanings through a practice that we call prefacing the script . We conducted semi-structured interviews with 31 physicians, nurses, physician assistants, and clinic managers who provide abortion care in North Carolina. Audio-recorded interviews were transcribed verbatim and analyzed using an inductive, iterative analytic approach, which included reading for context, interpretive memo-writing, and focused coding. Roughly half of the participants (14/31) reported that they or the clinicians who performed the counseling in their institution routinely prefaced the counseling script with qualifiers, disclaimers, and apologies that clarified their relationship to the state-mandated content. We identified three performative functions of this practice: 1) enacting a frame shift from a medical to a legal interaction, 2) distancing the speaker from the authorial voice of the counseling script, and 3) creating emotional alignment. Prefacing state-mandated abortion counseling scripts constitutes a practical strategy providers use to balance the obligation to comply with state law with personal and professional responsibilities to provide tailored care, emotional support, and serve the patient's best interests. Our findings suggest that language constitutes a powerful resource for navigating and
Veder, Barbara; Pope, Stan; Mani, Michèle; Beaudoin, Kelly; Ritchie, Janice
2014-01-01
Access to technologically mediated information and services under the umbrella of mental and physical health has become increasingly available to clients via Internet modalities, according to a recent study. In May 2010, video counseling was added to the counseling services offered through the Employee and Family Assistance Program at Shepell·fgi as a pilot project with a full operational launch in September 2011. The objective of this study was to conduct a retrospective post launch examination of the video counseling service through an analysis of the reported clinical outcomes of video and in-person counseling modalities. A chronological sample of 68 video counseling (VC) cases and 68 in-person (IP) cases were collected from a pool of client clinical files closed in 2012. To minimize the variables impacting the study and maintain as much clinical continuity as possible, the IP and the VC clients must have attended clinical sessions with any one of six counselors who provided both the VC and the IP services. The study compared the two counseling modalities along the following data points (see glossary of terms): (1) client demographic profiles (eg, age, gender, whether the sessions involved individuals or conjoint sessions with couples or families, etc), (2) presenting issue, (3) average session hours, (4) client rating of session helpfulness, (5) rates of goal completion, (6) client withdrawal rates, (7) no show and late cancellation rates, and (8) pre/post client self-assessment. Specific to VC, we examined client geographic location. Data analysis demonstrates that the VC and the IP showed a similar representation of presenting issues with nearly identical outcomes for client ratings of session helpfulness, rates of goal completion, pre/post client self-assessment, average session duration, and client geographic location. There were no statistically significant differences in the rates of withdrawal from counseling, no shows, and late cancellations between
Pharmacists' knowledge and interest in developing counseling skills relating to oral contraceptives.
Amin, Mohamed E K
2016-04-01
Possessing correct therapeutic information on oral contraceptives is an important prerequisite for the provision of sound advice to women who are using these products. This study examines Egyptian pharmacists' knowledge of pharmacotherapeutic aspects of oral contraceptives as well as interest in developing skills in providing counseling on oral contraceptive pills. Community pharmacies throughout Alexandria, Egypt. A cross-sectional survey was self-administered by a random sample of community pharmacists in Alexandria, Egypt. Five multiple choice questions likely to arise when counseling women on oral contraceptives were constructed. Questions covered compatibility with breastfeeding, precautions, health risks and managing missed pills of oral contraceptives. Using ordered logistic regression, a model was estimated to predict pharmacists' interest in developing skills in providing counseling on oral contraceptives. Pharmacists' aggregate scores for knowledge questions and pharmacists' interest in developing skills in providing counseling on oral contraceptive pills. Of the 181 approached pharmacists, 92 % participated. Twenty one pharmacists (13 %) did not know the correct answer to any question, 122 (73 %) answered one-two correctly, 23 (14 %) answered three-four correctly. No pharmacist answered all five questions correctly. For pharmacists' interest in developing skills in providing counseling on oral contraceptives, the percentage values for answers were: not interested at all (10.2 %), slightly interested (27.0 %), somewhat interested (23.4 %), interested (30.0 %) and extremely interested (9.6 %). Pharmacists' interest in developing skills in providing counseling on oral contraceptives was significantly associated with the number of women who requested advice from the pharmacists on oral contraceptives (OR 1.54, CI 1.24-1.91). In terms of the learning method of preference, percentage values for answers were: attending a workshop (4 %), online course (18
The Use of Therapeutic Stories in Counseling Child and Adolescent Sexual Abuse Survivors
Kress, Victoria E.; Adamson, Nicole A.; Yensel, Jennifer
2010-01-01
Counselors will regularly counsel children and adolescents with histories of sexual abuse and be challenged with providing supportive and empowering interventions that serve to move the client from victim to survivor status. Therapeutic stories are a creative counseling technique that can be used when counseling child and adolescent sexual abuse…
Counseling women with early pregnancy failure: utilizing evidence, preserving preference.
Wallace, Robin R; Goodman, Suzan; Freedman, Lori R; Dalton, Vanessa K; Harris, Lisa H
2010-12-01
To apply principles of shared decision-making to EPF management counseling. To present a patient treatment priority checklist developed from review of available literature on patient priorities for EPF management. Review of evidence for patient preferences; personal, emotional, physical and clinical factors that may influence patient priorities for EPF management; and the clinical factors, resources, and provider bias that may influence current practice. Women have strong and diverse preferences for EPF management and report higher satisfaction when treated according to these preferences. However, estimates of actual treatment patterns suggest that current practice does not reflect the evidence for safety and acceptability of all options, or patient preferences. Multiple practice barriers and biases exist that may be influencing provider counseling about options for EPF management. Choosing management for EPF is a preference-sensitive decision. A patient-centered approach to EPF management should incorporate counseling about all treatment options. Providers can integrate a counseling model into EPF management practice that utilizes principles of shared decision-making and an organized method for eliciting patient preferences, priorities, and concerns about treatment options. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.
Adventure Counseling as an Adjunct to Group Counseling in Hospital and Clinical Settings
Gillen, Mark C.; Balkin, Richard S.
2006-01-01
Adventure counseling has been thought of as a highly specialized application of group counseling skills in a wilderness environment. In fact, adventure counseling is based on a developmental theory of group, can be useful for a variety of clients, and can be thoughtfully integrated into clinical and hospital settings. This article describes the…
41 CFR 101-4.425 - Counseling and use of appraisal and counseling materials.
2010-07-01
... 41 Public Contracts and Property Management 2 2010-07-01 2010-07-01 true Counseling and use of appraisal and counseling materials. 101-4.425 Section 101-4.425 Public Contracts and Property Management... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 101-4.425 Counseling and use...
Genetic counselors: translating genomic science into clinical practice
Bennett, Robin L.; Hampel, Heather L.; Mandell, Jessica B.; Marks, Joan H.
2003-01-01
In a time of emerging genetic tests and technologies, genetic counselors are faced with the challenge of translating complex genomic data into information that will aid their client’s ability to learn about, understand, make, and cope with decisions relating to genetic diagnoses. The first of two companion articles in this issue examines the role of the genetic counselor, particularly in counseling individuals at risk for or diagnosed with breast cancer, in an era of high-tech health care and...
Directory of Open Access Journals (Sweden)
A. Fernández-Suárez
2005-09-01
Full Text Available The association of specific genetic disturbances with the development of hereditary cancer helps us to understand the risk of suffering from it, the possibility of an earlier diagnosis, and the treatment and prevention of this disease. Familial adenomatous polyposis (FAP is a pre-neoplastic syndrome characterized by the presence of hundreds of adenomatous polyps in the colon, which develop into a carcinoma. FAP can be diagnosed using sequencing techniques to detect mutations in the germinal line of the APC (adenomatous polyposis coli gene. The genetic diagnostic approach in families with FAP, previously followed up in the Gastrointestinal Clinic, has both advantages and disadvantages, and places us nearer the disease and patient. Disclosing the results of this genetic test entails relevant problems in clinical practice, which affect the health field and raise legal and ethical issues, along with the familial, occupational, and social implications that knowing the genetic status can have on the patient. Genetic analysis is rare in normal clinical practice, which involves errors in the interpretation of the results obtained, and during the process of genetic counselling. Specialized multidisciplinary units are necessary for the management of patients with FAP undergoing analysis and appropriate genetic counselling, thus providing an individualized service. The creation of FAP registers and protocols for this healthcare process should optimize the management of these patients and their families.La asociación de determinadas alteraciones genéticas con la aparición de cáncer hereditario, nos permite conocer el riesgo de padecerlo, posibilitando el diagnóstico precoz, el tratamiento y la prevención de la enfermedad. La poliposis adenomatosa familiar (PAF es un síndrome preneoplásico que se caracteriza por la presencia de cientos de pólipos adenomatosos en colon, que evolucionarán hacia carcinoma. La PAF puede ser diagnosticada mediante t
The Process and Experience of Online Group Counseling for Masters-Level Counseling Students
Lopresti, Jason Michael
2010-01-01
The present study explored the process and experience of online group counseling using a text-based synchronous program, particularly addressing how the process compares to face-to-face group counseling. Six students in a masters-level group counseling class voluntarily chose to participate for eight sixty minute online sessions on a weekly basis,…
Making Sense of Your Genes: A Guide to Genetic Counseling
... become ill. • The genetic counselor may also discuss environmental risk factors in and outside of the home, what ... make decisions about cancer screening and cancer prevention methods. It could also ... about their cancer risks. A genetic counselor can also refer you to ...
Zakaria, Noor Syamilah
2013-01-01
Counseling ethics competency is an important part of counselor identity development as required by the counseling profession training standards, and counseling ethics education is one major component of knowledge acquisition in counseling profession. Counselor educators and counselor education training programs have a core responsibility to…
Molecular-genetic analysis of two cases with retinoblastoma ...
Indian Academy of Sciences (India)
Unknown
Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of ... to chromosomal deletion, single-nucleotide alteration, microdeletion, loss ... informed consent of the parent.
15 CFR 8a.425 - Counseling and use of appraisal and counseling materials.
2010-01-01
... 15 Commerce and Foreign Trade 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 8a.425 Section 8a.425 Commerce and Foreign Trade Office of the Secretary of Commerce... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 8a.425 Counseling and use of...
Genetics Home Reference: spastic paraplegia type 8
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Genetics Home Reference: spastic paraplegia type 31
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Genetics Home Reference: familial paroxysmal nonkinesigenic dyskinesia
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Genetics Home Reference: familial paroxysmal kinesigenic dyskinesia
... involve slow, prolonged muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs ( ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related ...