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.

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.

Science.gov (United States)

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.

Science.gov (United States)

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

The practice of genetic counselling: a Ccmparative approach to understanding genetic counselling in China

NARCIS (Netherlands)

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.

[A survey of willingness about genetic counseling and tests in patients of epithelial ovarian cancer].

Science.gov (United States)

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.

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.

Science.gov (United States)

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.

Genetic information, non-discrimination, and privacy protections in genetic counseling practice.

Science.gov (United States)

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.

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.

African American women's limited knowledge and experiences with genetic counseling for hereditary breast cancer.

Science.gov (United States)

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.

Impact of a Booklet about Diabetes Genetic Susceptibility and Its Prevention on Attitudes towards Prevention and Perceived Behavioral Change in Patients with Type 2 Diabetes and Their Offspring

Directory of Open Access Journals (Sweden)

Masakazu Nishigaki

2011-01-01

Full Text Available Background. Offspring of type 2 diabetic patients are at a high risk of type 2 diabetes. Information on diabetes genetic susceptibility and prevention should be supplied to the offspring. Methods. A six-page booklet on diabetes genetic susceptibility and prevention was distributed to 173 patients who ere ordered to hand it to their offspring. The patients answered a self-administered questionnaire on booklet delivery and attitudinal and behavioral changes toward diabetes and its prevention in themselves and their offspring. Results. Valid responses were obtained from 130 patients. Forty-nine patients had actually handed the booklet. Booklet induces more relief than anxiety. From the patient's view, favorable attitudinal and/or behavioral changes occurred in more than half of the offspring who were delivered the booklet. Conclusion. The booklet worked effectively on attitudes and behaviors toward diabetes and its prevention both in patients and their offspring. However, the effectiveness of patients as information deliverers was limited.

Interactive genetic counseling role-play: a novel educational strategy for family physicians.

Science.gov (United States)

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.

Personalized Genetic Risk Counseling to Motivate Diabetes Prevention: A randomized trial

OpenAIRE

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...

Genetic Counseling, Professional Values, and Habitus: An Analysis of Disability Narratives in Textbooks.

Science.gov (United States)

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?

Science.gov (United States)

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.

Science.gov (United States)

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.

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 ...

Genetic Counseling Supervisors' Self-Efficacy for Select Clinical Supervision Competencies.

Science.gov (United States)

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.

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

Ethical issues in genetic counselling with special reference to haemoglobinopathies.

Science.gov (United States)

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.

Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine.

Science.gov (United States)

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.

African American Women’s Limited Knowledge and Experiences with Genetic Counseling for Hereditary Breast Cancer

Science.gov (United States)

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

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...

Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?

Science.gov (United States)

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.

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...

Follow-up effects of a tailored pre-counseling website with question prompt in breast cancer genetic counseling

NARCIS (Netherlands)

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

Follow-up effects of a tailored pre-counseling website with question prompt in breast cancer genetic counseling.

NARCIS (Netherlands)

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

Colorectal Cancer in the Family: Psychosocial Distress and Social Issues in the Years Following Genetic Counselling

Directory of Open Access Journals (Sweden)

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.

BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation.

Science.gov (United States)

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.

The genomic era and serious mental illness: a potential application for psychiatric genetic counseling.

Science.gov (United States)

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.

Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.

Science.gov (United States)

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.

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)

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...

Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening.

Science.gov (United States)

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.

Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

NARCIS (Netherlands)

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

Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968–2007

Science.gov (United States)

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

Effectiveness of an online curriculum for medical students on genetics, genetic testing and counseling

Directory of Open Access Journals (Sweden)

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.

Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors.

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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.

International exchange training in genetic counseling: an exploration of the value in exchange experiences.

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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.

Cancer Genetics Risk Assessment and Counseling (PDQ®)—Health Professional Version

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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.

[Views of Icelandic women towards genetic counseling - and testing of BRCA2 mutations].

Science.gov (United States)

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.

Randomized trial of proactive rapid genetic counseling versus usual care for newly diagnosed breast cancer patients.

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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

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... 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 ...

Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy

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.

Disability training in the genetic counseling curricula: bridging the gap between genetic counselors and the disability community.

Science.gov (United States)

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.

Prevalence and detection of psychosocial problems in cancer genetic counseling

NARCIS (Netherlands)

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

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

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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.

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

Science.gov (United States)

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.

Science.gov (United States)

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

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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 

The future is now: Technology's impact on the practice of genetic counseling.

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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.

Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?

Science.gov (United States)

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

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.

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.

A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.

Science.gov (United States)

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.

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

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... 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 ...

Women’s Satisfaction with Genetic Counseling for Hereditary Breast-Ovarian Cancer: Psychological Aspects

OpenAIRE

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...

[Prenatal genetic counseling and instruction for deaf families by genetic test].

Science.gov (United States)

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

Trends in Unmet Need for Genetic Counseling Among Children With Special Health Care Needs, 2001-2010.

Science.gov (United States)

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.

EFEKTIVITAS MEDIA BOOKLET BRAILLE DALAM MENINGKATKAN PENGETAHUAN GIZI PADA ANAK TUNANETRA

Directory of Open Access Journals (Sweden)

Ellyza Ulya

2014-10-01

students in SLB A Adi and SLB N Semarang. Total sample is 15 blind students. Paired t-test results obtained 0,000 significant result, means that there are significant differences between pretest and posttest difference in value. It is shown that the booklet media braille is effective in improving nutrition knowledge of blind children at Semarang City.Based on the results of this study concluded that the media booklet Braille effective in improving nutrition knowledge in blind children at Semarang city. Advice from researchers to the school is booklet media with Braille can be taken into consideration in making basic nutrition counseling media.

Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness.

Science.gov (United States)

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.

Role-playing is an effective instructional strategy for genetic counseling training: an investigation and comparative study.

Science.gov (United States)

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.

The knowledge value-chain of genetic counseling for breast cancer: an empirical assessment of prediction and communication processes.

Science.gov (United States)

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.

Changing profile of couples seeking genetic counseling for consanguinity in Australia.

Science.gov (United States)

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.

The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer.

Science.gov (United States)

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

Genetic Counseling for Diabetes Mellitus

Science.gov (United States)

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

Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling.

Science.gov (United States)

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.

Migrant breast cancer patients and their participation in genetic counseling : results from a registry-based study

NARCIS (Netherlands)

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

Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study.

NARCIS (Netherlands)

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

Migrant breast cancer patients and their participation in genetic counseling: results from a registry-based study

NARCIS (Netherlands)

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

Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer.

Science.gov (United States)

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.

Telemedicine vs in-person cancer genetic counseling: measuring satisfaction and conducting economic analysis

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

Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants and perspectives of patients and healthcare professionals.

Science.gov (United States)

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.

Woman's Pre-Conception Evaluation: Genetic and Fetal Risk Considerations for Counselling and Informed Choice.

Science.gov (United States)

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

Intake Procedures in College Counseling Centers.

Science.gov (United States)

Pappas, James P.; And Others

Intake procedures is the common subject of four papers presented in this booklet. James P. Pappas discusses trends, a decision theory model, information and issues in his article "Intake Procedures in Counseling Centers--Trends and Theory." In the second article "The Utilization of Standardized Tests in Intake Procedures or 'Where's the Post…

Barriers and Facilitators for Utilization of Genetic Counseling and Risk Assessment Services in Young Female Breast Cancer Survivors

Directory of Open Access Journals (Sweden)

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.

Barriers and Facilitators for Utilization of Genetic Counseling and Risk Assessment Services in Young Female Breast Cancer Survivors

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.

Clinical utility of fetal autopsy and its impact on genetic counseling.

Science.gov (United States)

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.

Index to AEC Information Booklets

Energy Technology Data Exchange (ETDEWEB)

None

1978-01-01

The U. S. Atomic Energy Commission publishes a series of information booklets for the general public. These booklets explain many aspects of nuclear science. Because these booklets cover such a variety of scientific fields, this index was prepared to help the reader find quickly those booklets that contain the information he needs.

Pre-natal genetic counselling in a resource limited country - a single center geneticist's perspectives

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)

Peering into a Chilean black box: parental storytelling in pediatric genetic counseling.

Science.gov (United States)

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.

Genetic counseling and the disabled: feminism examines the stance of those who stand at the gate.

Science.gov (United States)

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.

Telegenetics use in presymptomatic genetic counselling : patient evaluations on satisfaction and quality of care

NARCIS (Netherlands)

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.

Science.gov (United States)

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].

Science.gov (United States)

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.

The efficacy of a standardized questionnaire in facilitating personalized communication about problems encountered in cancer genetic counseling: design of a randomized controlled trial.

Science.gov (United States)

Eijzenga, Willem; Aaronson, Neil K; Kluijt, Irma; Sidharta, Grace N; Hahn, Daniela Ee; Ausems, Margreet Gem; Bleiker, Eveline Ma

2014-01-15

Individuals with a personal or family history of cancer, can opt for genetic counseling and DNA-testing. Approximately 25% of these individuals experience clinically relevant levels of psychosocial distress, depression and/or anxiety after counseling. These problems are frequently left undetected by genetic counselors. The aim of this study is to evaluate the efficacy of a cancer genetics-specific screening questionnaire for psychosocial problems, the 'Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire' together with the Distress Thermometer, in: (1) facilitating personalized counselor-counselee communication; (2) increasing counselors' awareness of their counselees' psychosocial problems; and (3) facilitating the management of psychosocial problems during and after genetic counseling. This multicenter, randomized controlled trial will include 264 individuals undergoing cancer genetic counseling in two family cancer clinics in the Netherlands. Participants will be randomized to either: (1) an intervention group that completes the PAHC questionnaire, the results of which are made available to the genetic counselor prior to the counseling session; or (2) a control group that completes the PAHC questionnaire, but without feedback being given to the genetic counselor. The genetic counseling sessions will be audiotaped for content analysis. Additionally, study participants will be asked to complete questionnaires at baseline, three weeks after the initial counseling session, and four months after a telephone follow-up counseling session. The genetic counselors will be asked to complete questionnaires at the start of and at completion of the study, as well as a checklist directly after each counseling session. The questionnaires/checklists of the study include items on communication during genetic counseling, counselor awareness of their clients' psychosocial problems, the (perceived) need for professional psychosocial support, cancer worries, general

Elaboration of the Reciprocal-Engagement Model of Genetic Counseling Practice: a Qualitative Investigation of Goals and Strategies.

Science.gov (United States)

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.

Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants, and perspectives of patients and healthcare professionals.

OpenAIRE

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 ...

Development of FOCUS-GC: Framework for Outcomes of Clinical Communication Services in Genetic Counseling.

Science.gov (United States)

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.

Researcher responsibilities and genetic counseling for pure-bred dog populations.

Science.gov (United States)

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.

An investigation of relationships among genetic counselors' supervision skills and multicultural counseling competence.

Science.gov (United States)

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.

Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

Science.gov (United States)

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.

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

Science.gov (United States)

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.

[Genetic counseling in cystic fibrosis].

Science.gov (United States)

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.

Measuring Awareness and Identifying Misconceptions About Genetic Counseling Services and Utilizing Television to Educate

Science.gov (United States)

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.

Online genetic counseling from the providers' perspective: counselors' evaluations and a time and cost analysis

Science.gov (United States)

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

A pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling.

NARCIS (Netherlands)

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

Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent : participation determinants and perspectives of patients and healthcare professionals

NARCIS (Netherlands)

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

Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants, and perspectives of patients and healthcare professionals.

NARCIS (Netherlands)

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

A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation

NARCIS (Netherlands)

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

A group approach to genetic counselling of cardiomyopathy patients : satisfaction and psychological outcomes sufficient for further implementation

NARCIS (Netherlands)

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.

Science.gov (United States)

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.

Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida.

Science.gov (United States)

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.

Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer.

Science.gov (United States)

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.

Nonverbal communication and conversational contribution in breast cancer genetic counseling: are counselors' nonverbal communication and conversational contribution associated with counselees' satisfaction, needs fulfillment and state anxiety in breast cancer genetic counseling?

NARCIS (Netherlands)

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

Randomized comparison of group versus individual genetic education and counseling for familial breast and/or ovarian cancer.

Science.gov (United States)

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.

Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire.

Science.gov (United States)

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

Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility.

Science.gov (United States)

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.

Sending family history questionnaires to patients before a colonoscopy improves genetic counseling for hereditary colorectal cancer.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Assessment of Health Belief Model (HBM impact on knowledge, beliefs, and self-efficacy of women in need of genetic counseling

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.

Y chromosome microdeletions and alterations of spermatogenesis, patient approach and genetic counseling.

Science.gov (United States)

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.

Prenatal genetic counseling in cross-cultural medicine: A framework for family physicians.

Science.gov (United States)

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.

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.

Science.gov (United States)

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.

[Development, problems and results of specialty-specific genetic counseling at the Neurology Clinic of the Karl Marx University].

Science.gov (United States)

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.

The Impact of Mental Illness on Uptake of Genetic Counseling for Hereditary Breast Cancer and Ovarian Cancer in a Multiethnic Cohort of Breast Cancer Patients.

Science.gov (United States)

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.

Rapid genetic counseling and testing in newly diagnosed breast cancer : Surgical and psychosocial implications

NARCIS (Netherlands)

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

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

QUOTE-gene(ca): development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer.

Science.gov (United States)

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.

Genetic Counseling and Cardiac Care in Predictively Tested Hypertrophic Cardiomyopathy Mutation Carriers: The Patients' Perspective

NARCIS (Netherlands)

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

Ethics of genetic counseling--basic concepts and relevance to Islamic communities.

Science.gov (United States)

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.

Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families

Science.gov (United States)

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

Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial.

Science.gov (United States)

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.

Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of age

Directory of Open Access Journals (Sweden)

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.

Methotrexate information booklet study 2008.

LENUS (Irish Health Repository)

Mohammad, A

2012-02-01

INTRODUCTION: I n order to assess the value of using the methotrexate information booklet, we conducted a single blind prospective controlled trial of the patients attending two rheumatology services. METHODS: The active-arm (n=40) used the MTX information booklet for the patients\\' education and the control-arm (n=38) did not. Patients\\' interviews were conducted over a 6-month period using an MTX-questionnaire. RESULTS: The entire active-arm patients (100%) were taking folic-acid and 32 (80%) knew the reason why they were taking folic-acid vs. [30 (79%) and 10 (26%) in the control-arm]. In the active-arm 35 (88%) knew the reason for their monthly blood tests vs. 18 (47%) in the control-arm. The entire active-arm was aware of the need for contraception use and MTX-side effects vs. 23 (60%) and 15 (40%) in the control-arm respectively. CONCLUSIONS: The use of the MTX information booklet in our cohort improved their understanding of the treatment.

Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling.

Science.gov (United States)

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.

The influence of cancer-related distress and sense of coherence on anxiety and depression in patients with hereditary cancer: a study of patients' sense of coherence 6 months after genetic counseling.

Science.gov (United States)

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.

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

Science.gov (United States)

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.

RSA Monitoring Redesign Initiative Informational Booklet #1

Science.gov (United States)

US Department of Education, 2005

2005-01-01

This informational booklet contains background materials regarding the Rehabilitation Services Administration (RSA) initiative to redesign its monitoring system. The booklet is intended to expand the knowledge and understanding of those individuals selected to participate in the RSA-sponsored monitoring conference that was held August 24 and 25,…

CMS Statistics Reference Booklet

Data.gov (United States)

U.S. Department of Health & Human Services — The annual CMS Statistics reference booklet provides a quick reference for summary information about health expenditures and the Medicare and Medicaid health...

Genetic counseling follow-up - a retrospective study with a quantitative approach

Directory of Open Access Journals (Sweden)

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.

Development of E-Info geneca: a website providing computer-tailored information and question prompt prior to breast cancer genetic counseling.

NARCIS (Netherlands)

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

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

OpenAIRE

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...

[Genetic counseling and instruction of marriage for deaf young people: study of 115 cases].

Science.gov (United States)

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.

Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires--an Italian exploratory study.

Science.gov (United States)

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

OSHA [Three Booklets.

Science.gov (United States)

Occupational Safety and Health Administration, Washington, DC.

This document consists of three separate booklets designed to educate the public and users about the Occupational Safety and Health Administration (OSHA). The 54-page "All about OSHA" is intended to provide a nonexhaustive overview of OSHA services. The following topics are discussed: the need for occupational safety and health…

Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: the Genetic Counseling/lifestyle Change (GC/LC) Study for Diabetes Prevention.

Science.gov (United States)

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

Staying Fit for Farming-A Health Booklet Designed for Irish Farmers.

Science.gov (United States)

Richardson, Noel; Osborne, Aoife; O'Neill, Biddy; Griffin, Pat; McNamara, John; Roche, Ciaran; van Doorn, Diana

2015-01-01

The objectives of this study were to design a health booklet specifically targeted to farmers with clear and understandable messages through the use of simple terminologies, pictures, agricultural references, and farmer-related case studies; and to maximize the profile and reach of the booklet to empower farmers to take increased control of their own health. Seven focus groups were carried out with farmers and professionals from the agricultural sector to explore the health needs of farmers and their attitudes and behaviors in relation to their health. Findings from these focus groups informed the content and design of the booklet "Staying Fit for Farming-A Health Booklet for Farmers." This booklet was launched on 25 September 2013 and received widespread publicity in both print and broadcast media. A high-quality print resolution of the booklet was made available nationally (approximately 70,500 print circulation sales) through the Irish Farmers Journal on 25 January 2014. The journal included a feature on the booklet, encouraging farmers to see the booklet as an important resource for their health and as a long-term source of health information. The booklet has been adopted by the Irish Heart Foundation as a resource for its "Farmers Have Hearts-Heart Health Checks" program. The booklet has helped push farmers' health into the forefront identifying health as a key driver of "staying fit for farming." The approach taken to consult with farmers and farm organizations helped ensure maximum buy-in from the target group to hopefully motivate farmers to take increased responsibility for their own health.

Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.

Science.gov (United States)

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.

Educational booklet on diabetes construction and content validation

Directory of Open Access Journals (Sweden)

Jéssica Azevedo de Aquino

2016-11-01

Full Text Available Abstract: Patients with Diabetes Mellitus (DM require support for self-management education and care. This study aimed to present the results of the construction and content validation of the educational booklet to be used in an educational program for empowerment of patients with DM. The educational booklet was developed containing the standards needed for self-care in diabetes proposed by the American Association of Diabetes Educators and subjected to evaluation by specialists using the Delphi Technique. The specialists valuation was performed in three stages, an online questionnaire with eight questions was used to get a consensus higher than 80% of all the items that makes up the final material. Later, the educational booklet was subjected to assessment of patients in a pilot study. Twelve specialists in DM participated in the first stage and three items initially did not reach 80% consensus. The booklet was reformulated and six specialists attended the second stage, in which he consensus higher than 80% was obtained. In a third stage, five patients contributed to the assessment of the final version. The educational booklet presents good characteristics of content validate to be used in educational program to empower DM patients in self-management and health care.

"I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerations.

Science.gov (United States)

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.

Effect of routine assessment of specific psychosocial problems on personalized communication, counselors’ awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial.

Science.gov (United States)

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.

PENGEMBANGAN BOOKLET KAWASAN RUMAH PANGAN LESTARI (KRPL UNTUK SANTRI EKOPESANTREN LOMBOK TENGAH

Directory of Open Access Journals (Sweden)

Najah Sholehah

2017-08-01

Full Text Available This research was aimed to result of Sustainable Reserve Food Garden Program (SRFGP booklet learning media for ecopesantren students are (1 arrange SRFGP booklet for senior high school students in boading house, (2 to test feasibility of SRFGP booklet trough test the validity by material expert, media expert, and environment practitioner, (3 to test practically of SRFGP booklet trough students responses. Research method is  consists of  developmental research a model of ADDIE that have 5 phases are Analyze, Design, Develop, Implement, and Evaluate. The result showed that material validation from material expert reaches 67.04% to the category of very valid. Validation results of media expert are 93.30% to the category of very valid. Environment practitioner validated it results 88.33% to the category of very valid, students responses to the booklet in small group trials results 98.82% to the category of very valid. The conclusion of this research SRFGP booklet is feasible and practice to implement for learning media for ecopesantren students in central Lombok. Penelitian ini bertujuan untuk menghasilkan media pembelajaran booklet program Kawasan Rumah Pangan Lestari untuk santri ekopesantren, yaitu (1 menyusun booklet KRPL untuk santri MA Pondok Pesantren, (2 menguji kelayakan booklet KRPL melalui uji validasi oleh ahli materi, ahli media, dan praktisi lingkungan,  dan (3 menguji kepraktisan booklet KRPL melalui uji coba pendahuluan oleh santri. Metode penelitian ini ialah penelitian pengembangan dengan menggunakan model ADDIE (Analyze, Design, Develop, Implement, dan Evaluate. Hasil penelitian menunjukkan bahwa pengembangan booklet dari ahli media sebesar 93,3% dengan kategori sangat valid, ahli materi sebesar 67% dengan kategori cukup valid, dan ahli praktisi lingkungan sebesar 88,3% dengan kategori sangat valid, dan uji pendahuluan sebesar 98,9% dengan kategori sangat valid. Kesimpulan dari penelitian ini ialah booklet KRPL sangat layak dan

Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review.

Science.gov (United States)

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.

The emotional impact of genetic testing and aspects of counseling prior to prescription of oral contraceptives.

Science.gov (United States)

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.

Ethics and technology : some issues ; a booklet

OpenAIRE

Garasic, Mirko Daniel; Steinert, Steffen; Knutzen, Sönke; Ladwig, Tina; Dürkop, Axel; Heinemann, Michael

2018-01-01

Bioethical questions have a crucial role both in people’s personal choices and in the political domain. The aim of this booklet is to introduce you to the main controversies in contemporary bioethics, especially to those concerning the intersection between ethics and technology. At the end of reading the booklet, you will be equipped with the conceptual tools required to understand the main debates in ethics and technology and the most relevant positions in the debate. Hopefully, you will ...

Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries.

Science.gov (United States)

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.

The Perceived Personal Control (PPC) questionnaire as an outcome of genetic counseling: reliability and validity of the instrument.

NARCIS (Netherlands)

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

Aconselhamento genético Genetic counseling

Directory of Open Access Journals (Sweden)

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

Aconselhamento genético do paciente com doença falciforme Genetic counseling in the sickle cell disease

Directory of Open Access Journals (Sweden)

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.

Why is everyone so anxious?: an exploration of stress and anxiety in genetic counseling graduate students.

Science.gov (United States)

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.

Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study.

Science.gov (United States)

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.

Education and certification of genetic counselors.

Science.gov (United States)

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.

Effect of routine assessment of specific psychosocial problems on personalized communication, counselors' awareness, and distress levels in cancer genetic counseling practice: a randomized controlled trial

NARCIS (Netherlands)

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

Acceptance of Referral for Cancer-Risk Counseling in Population of Women Undergoing Breast Biopsy: Variables Predicting Followup at a Cancer Genetics Program

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...

Energy Efficiency Indicators Methodology Booklet

Energy Technology Data Exchange (ETDEWEB)

Sathaye, Jayant; Price, Lynn; McNeil, Michael; de la rue du Can, Stephane

2010-05-01

This Methodology Booklet provides a comprehensive review and methodology guiding principles for constructing energy efficiency indicators, with illustrative examples of application to individual countries. It reviews work done by international agencies and national government in constructing meaningful energy efficiency indicators that help policy makers to assess changes in energy efficiency over time. Building on past OECD experience and best practices, and the knowledge of these countries' institutions, relevant sources of information to construct an energy indicator database are identified. A framework based on levels of hierarchy of indicators -- spanning from aggregate, macro level to disaggregated end-use level metrics -- is presented to help shape the understanding of assessing energy efficiency. In each sector of activity: industry, commercial, residential, agriculture and transport, indicators are presented and recommendations to distinguish the different factors affecting energy use are highlighted. The methodology booklet addresses specifically issues that are relevant to developing indicators where activity is a major factor driving energy demand. A companion spreadsheet tool is available upon request.

A counselee-oriented perspective on risk communication in genetic counseling : Explaining the inaccuracy of the counselees' risk perception shortly after BRCA1/2 test result disclosure

NARCIS (Netherlands)

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

New Genetics

Science.gov (United States)

... of the booklet. » more Chapter 1: How Genes Work Covers DNA, RNA, transcription, RNA splicing, translation, ribosomes, antibiotics, genetic diseases, gene chips. » more Chapter 2: RNA and DNA Revealed: New Roles, New Rules Covers microRNAs, RNAi, epigenetics, telomeres, mtDNA, recombinant DNA. » ...

Case Studies in Science Education, Booklet X: Vortex as Harbinger.

Science.gov (United States)

Hoke, Gordon

This booklet is the eleventh of a series of 16 booklets that together describe and present findings for a study which involved field observations and a survey of science teaching and learning in American public schools during the school year 1976-77. The study was undertaken to provide the National Science Foundation with a portrayal of current…

Equine First Aid Information Flip Booklet

OpenAIRE

Nay, Karah; Hoopes, Karl

2017-01-01

This is a flip chart type booklet with first aid information for horses, including checking vitals, pulse rate, respiration, mucus membrane color and capillary refill, signs of colic, deworming, vaccinations recommended for Utah, hoof care, and dental care.

Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

NARCIS (Netherlands)

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.

Design of the BRISC study : a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

NARCIS (Netherlands)

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.

Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

Science.gov (United States)

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.

Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

Science.gov (United States)

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.

Computer-Based Readability Testing of Information Booklets for German Cancer Patients.

Science.gov (United States)

Keinki, Christian; Zowalla, Richard; Pobiruchin, Monika; Huebner, Jutta; Wiesner, Martin

2018-04-12

Understandable health information is essential for treatment adherence and improved health outcomes. For readability testing, several instruments analyze the complexity of sentence structures, e.g., Flesch-Reading Ease (FRE) or Vienna-Formula (WSTF). Moreover, the vocabulary is of high relevance for readers. The aim of this study is to investigate the agreement of sentence structure and vocabulary-based (SVM) instruments. A total of 52 freely available German patient information booklets on cancer were collected from the Internet. The mean understandability level L was computed for 51 booklets. The resulting values of FRE, WSTF, and SVM were assessed pairwise for agreement with Bland-Altman plots and two-sided, paired t tests. For the pairwise comparison, the mean L values are L FRE  = 6.81, L WSTF  = 7.39, L SVM  = 5.09. The sentence structure-based metrics gave significantly different scores (P < 0.001) for all assessed booklets, confirmed by the Bland-Altman analysis. The study findings suggest that vocabulary-based instruments cannot be interchanged with FRE/WSTF. However, both analytical aspects should be considered and checked by authors to linguistically refine texts with respect to the individual target group. Authors of health information can be supported by automated readability analysis. Health professionals can benefit by direct booklet comparisons allowing for time-effective selection of suitable booklets for patients.

Personality Module. Test Booklet. Test Items for Booklets 1, 2, 3=Modulo de personalidad. Libro de prueba. Itemes de prueba para los libros 1, 2, 3.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

Genetic Counseling in Mental Retardation.

Science.gov (United States)

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…

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? Results from a randomized clinical trial

NARCIS (Netherlands)

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.

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Science.gov (United States)

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.

PENGEMBANGAN BOOKLET PEMBUATAN YOGHURT KULIT BUAH NAGA UNTUK PARA PETANI BUAH BERBASIS PADA HASIL PENELITIAN

Directory of Open Access Journals (Sweden)

W.F Edi Hanzen

2016-11-01

Masyarakat belum memanfaatkan kulit buah naga dan hanya dibuang sebagai limbah. Pemanfaatan limbah kulit buah naga untuk produk olahan dalam rangka penganekaragaman pangan sampai saat ini masih belum dilakukan. Kulit buah naga memiliki kandungan nutrisi yang bermanfaat untuk pertumbuhan bakteri asam laktat. Salah satu bentuk makanan olahan dengan bahan dasar kulit buah naga dengan memanfaatkan bakteri asam laktat ialah yoghurt kulit buah naga. Booklet ini disusun berdasarkan hasil penelitian mengenai pembuatan yoghurt kulit buah naga. Booklet disusun untuk komunitas petani buah. Booklet berisi materi-materi tentang manfaat yoghurt dan petunjuk pembuatan yoghurt, alat dan bahan yang digunakan untuk membuat yoghurt, cara mengemas yoghurt dan strategi pemasaran yoghurt. Metode penelitian pengembangan ialah metode observasional dengan urutan langkah seperti yang dijelaskan oleh Hannafin dan Peck (1998. Hasil validasi dari para validator dan uji keterbacaan booklet oleh masyarakat petani buah  menunjukkan bahwa booklet yang disusun memiliki kualifikasi sangat menarik, sangat sesuai, dan sangat efektif untuk digunakan. Booklet yang dikembangkan layak digunakan dan dapat disebarluaskan sebagai media penyuluhan kepada masyarakat petani buah.

Providing Hospitalized Patients With an Educational Booklet Increases the Quality of Colonoscopy Bowel Preparation.

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Ergen, William F; Pasricha, Trisha; Hubbard, Francie J; Higginbotham, Tina; Givens, Tonya; Slaughter, James C; Obstein, Keith L

2016-06-01

Inadequate bowel preparation is a problem frequently encountered by gastroenterologists who perform colonoscopies on hospitalized patients. A method is needed to increase the quality of bowel preparation in inpatients. An educational booklet has been shown to increase the overall quality of bowel preparation for outpatients. We performed a prospective study to evaluate the effects of an educational booklet on the quality of bowel preparation in a group of hospitalized patients. We performed a randomized, single-blind, controlled trial of all inpatients at a tertiary care medical center scheduled for inpatient colonoscopy from October 2013 through March 2014. They were randomly assigned to groups that were (n = 45) or were not (controls, n = 40) given the booklet before bowel preparation the evening before their colonoscopy. All patients received a standard bowel preparation (clear liquid diet the day before the procedure, followed by split-dose GoLYTELY). At the colonoscopy, the Boston Bowel preparation scale (BBPS) was used to assess bowel preparation. The primary outcome measure was adequate bowel preparation (a total BBPS score ≥6 with all segment scores ≥2). Secondary outcomes assessed included total BBPS score, BBPS segment score, and a total BBPS score of 0. There were no differences between the groups in age, race, sex, body mass index, history of colonoscopy, history of polyps, or time of colonoscopy. Twenty-eight patients who received the booklet (62%) and 14 who did not (35%) had an adequate bowel preparation (P = .012). The number needed to treat to attain adequate bowel preparation was 4. After adjusting for age and history of prior colonoscopies, the odds of achieving an adequate bowel preparation and a higher total BBPS score after receipt of the booklet were 3.14 (95% confidence interval, 1.29-7.83) and 2.27 (95% confidence interval, 1.05-4.88), respectively. Three patients in the booklet group and 9 in the no-booklet group had a BBPS score

Genetic Counselling, BRCA1/2 Status and Clinico-pathologic Characteristics of Patients with Ovarian Cancer before 50 Years of Age

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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

A importância do aconselhamento genético na anemia falciforme The importance of genetic counseling at sickle cell anemia

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

Subjective versus objective risk in genetic counseling for hereditary breast and/or ovarian cancers

Directory of Open Access Journals (Sweden)

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.

Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

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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.

A booklet on participants' rights to improve consent for clinical research: a randomized trial.

Directory of Open Access Journals (Sweden)

Jocelyne R Benatar

Full Text Available OBJECTIVE: Information on the rights of subjects in clinical trials has become increasingly complex and difficult to understand. This study evaluates whether a simple booklet which is relevant to all research studies improves the understanding of rights needed for subjects to provide informed consent. METHODS: 21 currently used informed consent forms (ICF from international clinical trials were separated into information related to the specific research study, and general information on participants' rights. A booklet designed to provide information on participants' rights which used simple language was developed to replace this information in current ICF's Readability of each component of ICF's and the booklet was then assessed using the Flesch-Kincaid Reading ease score (FK. To further evaluate the booklet 282 hospital inpatients were randomised to one of three ways to present research information; a standard ICF, the booklet combined with a short ICF, or the booklet combined with a simplified ICF. Comprehension of information related to the research proposal and to participant's rights was assessed by questionnaire. RESULTS: Information related to participants' rights contributed an average of 44% of the words in standard ICFs, and was harder to read than information describing the clinical trial (FK 25 versus (vs. 41 respectively, p = 0.0003. The booklet reduced the number of words and improved FK from 25 to 42. The simplified ICF had a slightly higher FK score than the standard ICF (50 vs. 42. Comprehension assessed in inpatients was better for the booklet and short ICF 62%, (95% confidence interval (CI 56 to 67 correct, or simplified ICF 62% (CI 58 to 68 correct compared to 52%, (CI 47 to 57 correct for the standard ICF, p = 0.009. This was due to better understanding of questions on rights (62% vs. 49% correct, p = 0.0008. Comprehension of study related information was similar for the simplified and standard ICF (60% vs. 64

A booklet on participants' rights to improve consent for clinical research: a randomized trial.

Science.gov (United States)

Benatar, Jocelyne R; Mortimer, John; Stretton, Matthew; Stewart, Ralph A H

2012-01-01

Information on the rights of subjects in clinical trials has become increasingly complex and difficult to understand. This study evaluates whether a simple booklet which is relevant to all research studies improves the understanding of rights needed for subjects to provide informed consent. 21 currently used informed consent forms (ICF) from international clinical trials were separated into information related to the specific research study, and general information on participants' rights. A booklet designed to provide information on participants' rights which used simple language was developed to replace this information in current ICF's Readability of each component of ICF's and the booklet was then assessed using the Flesch-Kincaid Reading ease score (FK). To further evaluate the booklet 282 hospital inpatients were randomised to one of three ways to present research information; a standard ICF, the booklet combined with a short ICF, or the booklet combined with a simplified ICF. Comprehension of information related to the research proposal and to participant's rights was assessed by questionnaire. Information related to participants' rights contributed an average of 44% of the words in standard ICFs, and was harder to read than information describing the clinical trial (FK 25 versus (vs.) 41 respectively, p = 0.0003). The booklet reduced the number of words and improved FK from 25 to 42. The simplified ICF had a slightly higher FK score than the standard ICF (50 vs. 42). Comprehension assessed in inpatients was better for the booklet and short ICF 62%, (95% confidence interval (CI) 56 to 67) correct, or simplified ICF 62% (CI 58 to 68) correct compared to 52%, (CI 47 to 57) correct for the standard ICF, p = 0.009. This was due to better understanding of questions on rights (62% vs. 49% correct, p = 0.0008). Comprehension of study related information was similar for the simplified and standard ICF (60% vs. 64% correct, p = 0.68). A booklet

Cancer Genetics Services Directory

Science.gov (United States)

... 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, ...

Environment Module. Test Booklet. Test Items for Booklets 1, 2, 3, 4=Libro de prueba. Modulo del medio ambiente. Itemes de prueba para los libros 1, 2, 3, 4.

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California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and are designed to help students understand some major human problems and make sound, responsive decisions to…

Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk.

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Willis, Amanda M; Smith, Sian K; Meiser, Bettina; Ballinger, Mandy L; Thomas, David M; Tattersall, Martin; Young, Mary-Anne

2018-02-17

Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research findings have difficulty making informed decisions regarding uptake of genetic counseling for these findings. This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling. Development was guided by published literature, the International Patient Decision Aid Standards, and the expertise of a steering committee of clinicians, researchers, and consumers. Decision aid acceptability was assessed by self-report questionnaire. All 19 participants stated that the decision aid was easy to read, clearly presented, increased their understanding of the implications of taking up research findings, and would be helpful in decision-making. While low to moderate levels of distress/worry were reported after reading the booklet, a majority of participants also reported feeling reassured. All participants would recommend the booklet to others considering uptake of clinically actionable research findings. Results indicate the decision aid is acceptable to the target audience, with potential as a useful decision support tool for genomic research participants.

[The physician's role in various clinical contexts. Physician counseling on in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD)].

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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.

Beyond Testing: Assessment for Teaching and Learning. Viewpoints. [Booklet and Audio Compact Discs].

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North Central Regional Educational Lab., Naperville, IL.

This multimedia package, which contains two audio CDs and a short informative booklet, examines the use of assessment to improve teaching and learning. The booklet contains the essay "Assessment-Driven Reform: A Leadership Approach" (Rhetta L. Detrich with Ed Janus and Sabrina W. M. Laine). It discusses the increasing importance of…

Progress Check Module; Basic Electricity and Electronics Individualized Learning System. Progress Check Booklet.

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Bureau of Naval Personnel, Washington, DC.

The Progress Check Booklet is designed to be used by the student working in the programed course to determine if he has mastered the concepts in the course booklets on: electrical current; voltage; resistance; measuring current and voltage in series circuits; relationships of current, voltage, and resistance; parellel circuits; combination…

North Dakota Wetlands Discovery Guide. Photocopy Booklet.

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Dietz, Nancy J., Ed.; And Others

This booklet contains games and activities that can be photocopied for classroom use. Activities include Wetland Terminology, Putting on the Map, Erosional Forces, Water in...Water out, Who Lives Here?, Wetlands in Disguise, Dichotomous Plant Game, Algae Survey, Conducting an Algal Survey, Water Quality Indicators Guide, Farming Wetlands, Wetlands…

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.

The Marfan Syndrome: A Booklet for Teachers.

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Bernhardt, Barbara A.

This booklet explains characteristics of Marfan Syndrome, an inherited disorder of connective tissue which can be life-threatening if untreated. Medical problems affecting various parts of the body such as the heart, the skeleton, the eyes and the skin associated with Marfan Syndrome are discussed. Possible medical emergencies are identified.…

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.

Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine

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... 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 ...

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

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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

40 CFR 85.2109 - Inclusion of warranty provisions in owners' manuals and warranty booklets.

Science.gov (United States)

2010-07-01

... 40 Protection of Environment 18 2010-07-01 2010-07-01 false Inclusion of warranty provisions in owners' manuals and warranty booklets. 85.2109 Section 85.2109 Protection of Environment ENVIRONMENTAL....2109 Inclusion of warranty provisions in owners' manuals and warranty booklets. (a) A manufacturer...

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.

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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.

Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

Directory of Open Access Journals (Sweden)

Farmer Jennifer M

2010-10-01

Full Text Available Abstract Background Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course. Methods Forty-two adults with Friedreich ataxia (18-65y were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process. Results Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work. Conclusions Friedreich ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling. Background Human development can be described in terms of key transitional events, or significant times of change. Transitional events initiate shifts in the meaning or direction of life and require the individual to develop skills or utilize coping strategies to adapt to a novel situation 12. A successful transition has been defined as the development of a sense of mastery over the changed event 3. Transitions can be influenced by a variety

What would you say? Genetic counseling graduate students' and counselors' hypothetical responses to patient requested self-disclosure.

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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.

Corrections Officer Candidate Information Booklet and User's Manual. Standards and Training for Corrections Program.

Science.gov (United States)

California State Board of Corrections, Sacramento.

This package consists of an information booklet for job candidates preparing to take California's Corrections Officer Examination and a user's manual intended for those who will administer the examination. The candidate information booklet provides background information about the development of the Corrections Officer Examination, describes its…

Probation Officer Candidate Information Booklet and User's Manual. Standards and Training for Corrections Program.

Science.gov (United States)

California State Board of Corrections, Sacramento.

This package consists of an information booklet for job candidates preparing to take California's Probation Officer Examination and a user's manual intended for those who will administer the examination. The candidate information booklet provides background information about the development and validation of the Probation Officer Examination,…

GENETIC HETEROGENEITY OF BETA GLOBIN MUTATIONS AMONG ASIAN-INDIANS AND IMPORTANCE IN GENETIC COUNSELLING AND DIAGNOSIS

Directory of Open Access Journals (Sweden)

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.

Genetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress.

Science.gov (United States)

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.

Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.

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.

Cancer genetics education in a low- to middle-income country: evaluation of an interactive workshop for clinicians in Kenya.

Science.gov (United States)

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.

Booklet Nutrisi Meningkatkan Asupan Makan dan Kadar Albumin pada Pasien Bedah yang Berisiko Malnutrisi

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Ida Mardalena

2017-05-01

Full Text Available Malnutrition in patients in the hospital have to know anything to do with the increase in the old days of hospitalisation, clinical conditions change, the increased use of hospital resources support, and increased risk of complications. The high malnutrition in hospitals have also been widely reported, at the time of going home from the hospital an average weight loss of 5.4%. In Indonesia, the prevalence of malnutrition is still relatively high, the prevalence of malnutrition by 40% -60% of patients digestif malnutrition. The results of the study in 2007, using the parameters Subjective Global Assessment (SGA, Body Mass Index (BMI, haemoglobin, hematocrit and albumin found the prevalence of malnutrition by 52%, 15%, 55%, 26% and 93%. Research in the UK found that promotional text messages to monitor the weight in the community have helped to identify the risk of malnutrition. Research purposes. This study aims to determine the effect of the use of nutrition booklet on food intake and levels of albumin surgical patients. Research methods. This study uses a pure experiment with Post Test Only with Control groups Design. Involved 60 respondents were divided into treatment group and 30 respondents 30 respondents comparison group. Statistical test using independent t-test with CI 95% Results: There were significant differences average remaining meal among surgical patients who use the nutrition booklet that does not use a nutrition booklet on alpha 5% with the p-value of 0.03. There are differences in the average value of serum albumin among surgical patients who use the nutrition booklet that does not use a nutrition booklet on alpha 5%, p 0.0001. Serum albumin levels and food intake increased significantly with the use of nutritional booklet.

The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counselling and for genetic education.

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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.

Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues

Energy Technology Data Exchange (ETDEWEB)

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.

Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress.

Science.gov (United States)

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.

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.

Culture and Social Organization Module. Test Booklet. Test Items for Booklets 1, 2, 3, 4=Libro de prueba. Modulo de cultura y organizacion social. Itemes de prueba para los libros 1, 2, 3, 4.

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California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and are designed to help students understand some major human problems and make sound, responsive decisions to…

Anxiety and depression among subjects attending genetic counseling for hereditary cancer.

Science.gov (United States)

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.

[Group counselling for the second trimester ultrasound: can group counselling be an alternative for individual counselling?].

Science.gov (United States)

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.

Can personal health record booklets improve cancer screening behaviors?

Science.gov (United States)

Newell, Sallie Anne; Sanson-Fisher, Rob William; Girgis, Afaf; Davey, Heather Maree

2002-01-01

Despite the widespread use of written health education materials as interventions, relatively few studies have adequately evaluated the effectiveness of such materials on changing healthcare behaviors in the general population. The study consisted of ten matched pairs of small rural towns in New South Wales, Australia, with a total combined population of approximately 25,000 in both the intervention and control group towns. A randomized controlled trial was used. Personal Health Record Booklets (PHRBs) that include the latest evidence-based recommendations for reducing risk of cancer and cardiovascular disease were developed using leading behavioral change theories to maximize effectiveness. The booklets included an explanatory letter, a gender-specific Better Health Booklet, and a gender-specific Better Health Diary. Following a media campaign, the PHRBs were mailed to all residents aged 20 to 60 years (about 12,600 people) in the ten intervention towns. Family practitioners in the intervention towns were recruited to support and encourage people to use the PHRBs. Health Insurance Commission data for Papanicolaou (Pap) tests, mammograms, and skin operations were obtained for 5 years before the intervention, and 3 months and 1 year after the intervention. No significant increases in the rates of Pap tests, mammograms, and skin operations were detected in either short- or long-term follow-ups. While PHRBs may represent an inexpensive, easy-to-produce, and time-efficient method of communicating information to the general population, it appears unlikely that any significant behavioral change will result unless such materials are targeted toward high-risk groups or constitute the first intervention for a particular risk factor.

Genetic counseling in monogenic diabetes GCK MODY.

Science.gov (United States)

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

Memorandum concerning the European project of dose passport (dosimetry booklet)

International Nuclear Information System (INIS)

2013-01-01

In fact the European project represents the implementation in European law of the 90/641 EURATOM directive that proposed a common European system for the follow-up of the occupational irradiation of workers. The EURATOM directive recommends a computer system while the European project proposes to write down information in a simple booklet. Some experts highlight the fact that it would be easier and more reliable to upgrade a computer file than a booklet and that the information must be available in different European languages. The experts recommend that the European countries must agree on what information would be compulsory, and on an accurate definition of the radiation dose we have to report and on how to measure it in order to have a consistent system throughout Europe. (A.C.)

Pengaruh pendidikan kesehatan melalui short message service (sms dan booklet tentang obesitas pada remaja overweight dan obesitas

Directory of Open Access Journals (Sweden)

Usi Lanita

2015-07-01

Full Text Available Background: Adolescent is an important period to be considered because it is a transition period between children and adult. Nutrition problem in an adolescent is while the decline of physical activity, teenage generally have a big appetite, hence, they often look for additional food. The majority of diet that teenage like are an energy dense, sweet, and high-fat foods, which could have a risk of causing overweight and obesity if consumed excessively. Therefore, one of the efforts to overcome the nutrition problem is given a health education to teenage. Objective: To seek for the effect of health education by short message service (SMS and a booklet about obesity on knowledge and body mass index (BMI in an overweight and obese adolescent. Method: This study used a quasi-experiment with pre-test and post-test design. The subject were 105 respondents of overweight and obese senior high school students. The data were analyze used a paired t-test and ANOVA with p=0.05 and CI=95%. Results: Health education by SMS, booklet and the combination of SMS and booklet had a significant effect statistically (p0.05 to reduce BMI in an overweight and obese adolescent. Conclusion: Health education by SMS, booklet, and combination of SMS and booklet have an effect on increasing the knowledge in overweight and obese adolescent, whereas on BMI, only SMS and booklet have an effect on reducing BMI.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Science.gov (United States)

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.

Promoting knowledge of statins in patients with low health literacy using an audio booklet

Directory of Open Access Journals (Sweden)

Gossey JT

2011-08-01

Full Text Available J Travis Gossey1, Simon N Whitney2, Michael A Crouch3, Maria L Jibaja-Weiss2, Hong Zhang4, Robert J Volk41Department of Medicine, Weill Cornell Medical College, New York, NY, USA; 2Department of Family and Community Medicine, Baylor College of Medicine, Houston, TX, USA; 3Memorial Family Medicine Residency Program, Sugar Land, TX, USA; 4Department of General Internal Medicine, The University of Texas MD Anderson Cancer Center, and Houston Center for Education and Research on Therapeutics, Houston, TX, USABackground: Statins are generally well tolerated and effective at reducing a patient’s risk of both primary and secondary cardiovascular events. Many patients who would benefit from statin therapy either do not adhere to or stop taking their statin medication within the first year. We developed an audio booklet targeted to low health literacy patients to teach them about the benefits and risks of statins to help the patients adhere to their statin therapy.Methods: Through focus groups and an iterative design, an audio booklet was developed for both English-speaking and Spanish-speaking patients. We then compared the booklet with standard of care in 132 patients from our target patient population to measure its impact on knowledge and understanding of statins.Results: The patients enjoyed the audio booklet and showed significant increases in knowledge after listening to it when compared with those who received the standard of care materials.Conclusion: The audio booklet shows promise as a tool that can be used effectively in clinical practice to teach patients about statin therapy.Keywords: patient adherence, patient education, medical decision-making, hypercholesterolemia

A case of diprosopus: perinatal counseling and management.

Science.gov (United States)

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

OpenAIRE

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.

Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial

Directory of Open Access Journals (Sweden)

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

Genetic Testing: MedlinePlus Health Topic

Science.gov (United States)

... 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 ...

A Case of Diprosopus: Perinatal Counseling and Management

Directory of Open Access Journals (Sweden)

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.

How Might the Genetics Profession Better Utilize Social Media.

Science.gov (United States)

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.

Parents in Reading; Parents' Booklet (Folleto Para Los Padres).

Science.gov (United States)

Truby, Roy

Developed for Idaho's original Parents in Reading program, this booklet is designed for use by parents of preschool and elementary school students. Topics are discussed in both English and Spanish and include: reading, listening, and talking to children; controlling television viewing; using numbers with children; children's muscles and movements;…

Development of a booklet on insulin therapy for children with diabetes mellitus type 1.

Science.gov (United States)

Moura, Denizielle de Jesus Moreira; Moura, Nádya Dos Santos; Menezes, Luciana Catunda Gomes de; Barros, Ariane Alves; Guedes, Maria Vilani Cavalcante

2017-01-01

to describe the process of developing of an educational booklet on insulin therapy for children with diabetes mellitus type 1. methodological approach, in which the following steps were carried out: selecting of the content and type of technology to be developed (for this step, an integrative review, an analysis of the comments of blogs about Diabetes Mellitus type 1 and interviews with the children were performed), creation of images, formatting and layout composition. the work resulted in the production of the final version of the educational booklet, which was titled Aplicando a insulina: a aventura de Beto [Applying insulin: Beto's adventure]. The process of developing of the booklet was based on the active participation of the children and guided by the theoretical framework of Piagetian Constructivism. the resource is a facilitator for the improvement of the knowledge and practices of self care of children with Diabetes Mellitus type 1.

Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.

Science.gov (United States)

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.

Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers

Science.gov (United States)

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.

Science.gov (United States)

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.

Forest Genetic Resources Conservation and Management

DEFF Research Database (Denmark)

Ukendt, FAO; Ukendt, DFSC; Ukendt, ICRAF

FAO, IPGRI/SAFORGEN, DFSCand ICRAF have cooperated on the compilation of17 booklets on the state of Forest Genetic Resources for thecountries listed below. When ordering your book please remember to write the country required on the email. Benin, Burkina Faso, Cote d\\Ivoire, Ethiopia, Gambia......, Guinee, Ghana, Kenya, Mali, Mauritania, Niger, North of Nigeria, North Cameroon, Senegal, Sudan, Tchad and Togo....

Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial

International Nuclear Information System (INIS)

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

Genetic counseling about cancer in Peru

OpenAIRE

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...

Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues. Progress report

Energy Technology Data Exchange (ETDEWEB)

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.

Genetic Counseling in Military Hospitals

Science.gov (United States)

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

Patient education in rheumatoid arthritis: the effectiveness of the ARC booklet and the mind map.

Science.gov (United States)

Walker, D; Adebajo, A; Heslop, P; Hill, J; Firth, J; Bishop, P; Helliwell, P S

2007-10-01

To determine the effectiveness of a pictorial 'mind map' together with the Arthritis Research Campaign (ARC) booklet for imparting knowledge to participants with rheumatoid arthritis (RA). Also, we wished to relate this to their reading ability. We studied 363 participants with RA. Reading ability was assessed using the REALM, and knowledge was assessed using the Knowledge Scale Questionnaire (KSQ). Information on educational attainment, disease state and levels of anxiety and depression was also collected. Participants were randomly assigned to receive either the ARC booklet alone or the booklet and the mind map together. A significant minority (15%) of participants were functionally illiterate. There was a statistically significant increase in knowledge across both groups from baseline to reassessment after they were given the literature, but there was no difference in attainment between the groups. The more literate participants gained more knowledge regardless of the information they were given. They were also significantly less anxious and less depressed. The ARC booklet with or without the mind map was associated with a significant increase in knowledge. Poor readers had poor educational attainment and poor knowledge acquisition. The information on the mind map was not more accessible to them. Different educational strategies will be necessary to educate these patients.

ESTIMATION OF RECURRENCE RISK AND GENETIC COUNSELLING OF FAMILIES WITH EVIDENCE OF ISOLATED (UNSYNDROMIC CLEFT LIP AND PALATE IN SUCEAVA COUNTY, ROMANIA

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

Application Form for NCI Cancer Genetics Services Directory

Science.gov (United States)

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

Science.gov (United States)

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.

Factors for Personal Counseling among Counseling Trainees

Science.gov (United States)

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…

Grandmothers as gems of genetic wisdom: exploring South African traditional beliefs about the causes of childhood genetic disorders.

Science.gov (United States)

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.

Genetics Home Reference: Kleefstra syndrome

Science.gov (United States)

... 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. ...

A rapid genetic counselling and testing in newly diagnosed breast cancer is associated with high rate of risk-reducing mastectomy in BRCA1/2-positive Italian women.

Science.gov (United States)

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

OpenAIRE

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...

Comparing the effect of e-learning and educational booklet on the childbirth self-efficacy: a randomized controlled clinical trial.

Science.gov (United States)

Abbasi, Parastoo; Mohammad-Alizadeh Charandabi, Sakineh; Mirghafourvand, Mojgan

2018-03-01

This study aimed to compare the effect of e-learning and educational booklet on the childbirth self-efficacy (CBSE). This randomized controlled clinical trial was conducted on 153 pregnant women referred to health centers in the city of Miandoab, Iran in 2015-2016. Participants were assigned into two intervention groups (e-learning and educational booklet) and the control group. A single face-to-face session was held for intervention groups about the management of labor pain in 30-34 weeks of pregnancy and the booklet and software were provided. The CBSE questionnaire was filled out by the participants before intervention and active phase of labor at 4-5 cm dilatation of cervix. One-way ANOVA and ANCOVA test with adjusting the baseline scores were used to compare the mean score of self-efficacy among study groups respectively before and after the intervention. There was no significant difference between the three groups in terms of socio-demographic characteristics (p > 0.05). After the intervention, the mean score of the CBSE in the educational booklet group (adjusted mean difference: 113.4; confidence interval 95%: 100.7-126.1) and e-learning group (159.3; 146.5-172.0) was significantly higher than the control group. Also, the mean score of the CBSE in the e-learning group had a significant increase compared to the educational booklet group (45.9; 33.0-58.7). The results indicate that e-learning and educational booklet are effective in enhancing mothers' CBSE. Thus, the mothers are recommended to use these teaching methods.

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 ...

Virginia Tech's Cook Counseling Center receives international counseling accreditation

OpenAIRE

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

Science.gov (United States)

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.

Science.gov (United States)

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.…

New NIA Booklet By and For People With Early-Stage Alzheimer's Disease

Science.gov (United States)

... Booklet By and For People With Early-Stage Alzheimer's Disease Past Issues / Fall 2007 Table of Contents ... you have a family member or friends with Alzheimer's disease? Are you wondering what they're going ...

Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer

NARCIS (Netherlands)

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

34 CFR 106.36 - Counseling and use of appraisal and counseling materials.

Science.gov (United States)

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...

How Should Clinicians Counsel a Woman with a Strong Family History of Early-Onset Alzheimer's Disease about Her Pregnancy?

Science.gov (United States)

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

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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...

Others and I. Personality Booklet 1. Teacher's Edition=Otros y Yo. Personalidad libro 1. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

Urban Ecosystems. Environment Booklet 4. Teacher's Edition =Ecosist urbanos. Libro del medio ambiente 4. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and are designed to help students understand some major human problems and make sound, responsive decisions to…

Conservation, Pollution. Environment Booklet 3. Teacher's Edition=Conservacion, contaminacion. Libro del medio ambiente 3. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

Red vs. green: Does the exam booklet color matter in higher education summative evaluations? Not likely.

Science.gov (United States)

Arthur, Winfred; Cho, Inchul; Muñoz, Gonzalo J

2016-10-01

We examined the so-called "red effect" in the context of higher education summative exams under the premise that unlike the conditions or situations where this effect typically has been obtained, the totality of factors, such as higher motivation, familiarity with exam material, and more reliance on domain knowledge that characterize high-stakes testing such as those in operational educational settings, are likely to mitigate any color effects. Using three naturally occurring archival data sets in which students took exams on either red or green exam booklets, the results indicated that booklet color (red vs. green) did not affect exam performance. From a scientific perspective, the results suggest that color effects may be attenuated by factors that characterize high-stakes assessments, and from an applied perspective, they suggest that the choice of red vs. green exam booklets in higher education summative evaluations is likely not a concern.

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...

Evaluation of the Mechanical Durability of the Egyptian Machine Readable Booklet Passport

Directory of Open Access Journals (Sweden)

Ahmed Mahmoud Yosri

2013-12-01

Full Text Available In 2008 the first Egyptian booklet Machine Readable Passport/ MRP has been issued and its security and informative standard quality levels were proved in a research published in 2011. Here the durability profiles of the Egyptian MRP have been evaluated. Seven mechanical durability tests were applied on the Egyptian MRP. Such tests are specified in the International Civil Aviation Organization / ICAO standard requirements documents. These seven very severe durability tests resulted in that the Egyptian MRP has achieved better & higher results than the values detected in ICAO-Doc N0232: Durability of Machine Readable Passports - Version: 3.2. Hence, this research had proved the complete conformance between the Egyptian MRP mechanical durability profiles to the international requirements. The Egyptian booklet MRP doesn’t need any obligatory modification concerning its mechanical durability profiles.

Popular Berkeley Lab X-ray Data Booklet reissued

International Nuclear Information System (INIS)

Robinson, Art

2001-01-01

X-ray scientists and synchrotron-radiation users who have been patiently waiting for an updated version of the popular X-Ray Data Booklet last published in 1986 by the Center for X-Ray Optics at the Lawrence Berkeley National Laboratory can breathe a sigh of relief. The venerable ''little orange book'' has now been reissued under the auspices of CXRO and the Advanced Light Source (ALS) with an April printing of 10,000 paper copies and the posting of a Web edition at http://xdb.lbl.gov

Psychology, Counseling Psychology, and Professional Counseling: Shared Roots, Challenges, and Opportunities

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.

Counseling activity in single-session online counseling with adolescents: an adherence study.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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...

24 CFR 3.425 - Counseling and use of appraisal and counseling materials.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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...

24 CFR 3500.6 - Special information booklet at time of loan application.

Science.gov (United States)

2010-04-01

... of the booklet or alternate materials for these transactions will be set forth in a Notice in the... lender or others and similar information may appear on the cover, but no discussion of the matters... into languages other than English. ...

22 CFR 146.425 - Counseling and use of appraisal and counseling materials.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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...

Genetic Forms of Epilepsies and other Paroxysmal Disorders

Science.gov (United States)

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

Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method.

Science.gov (United States)

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 ...

Out on a Limb. Personality Booklet 3. Teacher's Edition=En un aprieto. Personalidad libro 3. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

Life Support Systems. Environment Booklet 1. Teacher's Edition=Sistemas vitales. Libro del medio ambiente 1. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

Ionospheric Values (Daily Work Sheets), F-Plots, Tabulations, Booklets, Catalogs, and Log Books

Data.gov (United States)

National Oceanic and Atmospheric Administration, Department of Commerce — These ionospheric data consist of scaling notes, equipment usage logs, and ionospheric values in the form of daily work sheets, F-Plots, tabulations, and booklets....

Declining Counseling Research in Counseling Psychology Journals: Is the Sky Falling?

Science.gov (United States)

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…

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.

Different concepts and models of information for family-relevant genetic findings: comparison and ethical analysis.

Science.gov (United States)

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.

38 CFR 21.3100 - Counseling.

Science.gov (United States)

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...

A Group Counseling and Educational Program for Students with Usher's Syndrome.

Science.gov (United States)

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…

7 CFR 15a.36 - Counseling and use of appraisal and counseling materials.

Science.gov (United States)

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...

[Analysis of 14 individuals who requested predictive genetic testing for hereditary neuromuscular diseases].

Science.gov (United States)

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

Online Counseling: Reviewing the Literature from a Counseling Psychology Framework

Science.gov (United States)

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,…

Introduction to the Major Contribution: Counseling Psychology and Online Counseling

Science.gov (United States)

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,…

The Ghosts of Counseling Psychology: Is Counseling Research Really Dead?

Science.gov (United States)

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 ...

36 CFR 1211.425 - Counseling and use of appraisal and counseling materials.

Science.gov (United States)

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...

Roots. Culture and Social Organization Booklet 1. Teacher's Edition=Raices. Cultura y organizacion social libro 1. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and are designed to help students understand some major human problems and make sound, responsive decisions to…

American Women; 1607 to the Present. Booklets 1-6 [And] Instructional Guide.

Science.gov (United States)

Zane, Polly; Zane, John

Focusing on changing roles of American women in response to social, technological, and historical influences since 1607, the document describes women's participation in home life, sports, professions, business, the labor movement, social reform, and the fight for legal rights. The document comprises six chronologically organized booklets and a…

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 ...

Family risk and related education and counseling needs: perceptions of adults with bipolar disorder and siblings of adults with bipolar disorder.

Science.gov (United States)

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.

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...

The withdrawal from oncogenetic counselling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample.

Science.gov (United States)

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.

Call for change in prenatal counseling for Down syndrome.

Science.gov (United States)

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.

Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling.

Science.gov (United States)

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.

Comparability of scores on the MMPI-2-RF scales generated with the MMPI-2 and MMPI-2-RF booklets.

Science.gov (United States)

Van der Heijden, P T; Egger, J I M; Derksen, J J L

2010-05-01

In most validity studies on the recently released 338-item MMPI-2 (Butcher, Dahlstrom, Graham, Tellegen, & Kaemmer, 1989) Restructured Form (MMPI-2-RF; Ben-Porath & Tellegen, 2008; Tellegen & Ben-Porath, 2008), scale scores were derived from the 567-item MMPI-2 booklet. In this study, we evaluated the comparability of the MMPI-2-RF scale scores derived from the original 567-item MMPI-2 booklet with MMPI-2-RF scale scores derived from the 338-item MMPI-2-RF booklet in a Dutch student sample (N = 107). We used a counterbalanced (ABBA) design. We compared results with those previously reported by Tellegen and Ben-Porath (2008). Our findings support the comparability of the scores of the 338-item version and the 567-item version of the 50 MMPI-2-RF scales. We discuss clinical implications and directions for further research.

Welcome to the Web: An Activity Booklet for Parents and Kids = Bienvenidos a Internet: Libro de actividades para padres y ninos.

Science.gov (United States)

Schottman, Elly, Ed.

Noting that children need help in learning to use wisely the computer and the Internet, this booklet, in English and Spanish versions, uses the characters from the public television program "Arthur" to suggest activities for parents to use with their children. The booklet begins with a read-aloud story about using computer games and the…

Trainees versus Staff: Exploring Counseling Outcomes in a College Counseling Center

Science.gov (United States)

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…

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.

Use, acceptability and impact of booklets designed to support mental health self-management and help seeking in schools: results of a large randomised controlled trial in England.

Science.gov (United States)

Sharpe, Helen; Patalay, Praveetha; Vostanis, Panos; Belsky, Jay; Humphrey, Neil; Wolpert, Miranda

2017-03-01

Mental health booklets may provide a low-cost means of promoting mental health self-management and help seeking in schools. The aim of the study was to assess the (a) use, (b) acceptability and (c) impact of booklets for students in primary (10-11 years) and secondary school (12-13 years) alone and in conjunction with funding for targeted mental health support. This was a 2 × 2 factorial cluster randomized controlled trial, in which 846 schools in England were randomly allocated to receive/not receive: (1) booklets for students containing information on mental health self-management and help seeking, and (2) funding for mental health support as part of a national mental health initiative. 14,690 students (8139 primary, 6551 secondary) provided self-report on mental health, quality of life (baseline and 1 year follow-up) and help seeking (follow-up). (a) Approximately, 40 % primary school students and 20 % secondary school students reported seeing the booklets. (b) Of these, 87 % of primary school students reported that the booklet was 'very helpful' or 'quite helpful', compared with 73 % in secondary school. (c) There was no detectable impact of booklets on mental health, quality of life or help seeking, either alone or in conjunction with additional funding through the national mental health initiative. Lack of discernable impact of booklets underscores the need for caution in adopting such an approach. However, it is feasible that the impact was obscured by low uptake or that booklets may be more effective when used in a targeted way.

38 CFR 21.7100 - Counseling.

Science.gov (United States)

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...

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.

The withdrawal from oncogenetic counselling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample

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.

Prenatal genetic counseling: future parents prefer to make decisions together, using professional advice.

NARCIS (Netherlands)

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

Genetics of pulmonary hypertension in the clinic.

Science.gov (United States)

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

OpenAIRE

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.

Science.gov (United States)

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.

Science.gov (United States)

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

Science.gov (United States)

... 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.

Science.gov (United States)

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.

You and Me and Human Sexuality: A Student Booklet Written for Deaf Adolescents.

Science.gov (United States)

Texas School for the Deaf, Austin.

This student booklet, designed to teach deaf adolescents about human sexuality, is written for students with a second- to fourth-grade reading level. Topics include: (1) relationships; (2) adolescent growth and development; (3) female and male anatomy; (4) conception, fetal development, and birth; (5) contraception; and (6) sexual intercourse and…

Limited Resources, Unlimited Wants. Environment Booklet 2. Teacher's Edition=Recursos limitados, deseos ilimitados. Libro del medio ambiente 2. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and are designed to help students understand some major human problems and make sound, responsive decisions to…

Let's Help Each Other. Economic Organization Booklet 3. Teacher's Edition=Ayudemonos uno al otro. Organizacion economica libro 3. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

40 CFR 5.425 - Counseling and use of appraisal and counseling materials.

Science.gov (United States)

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...

Molecular biology from bench-to-bedside - which colorectal cancer patients should be referred for genetic counselling and risk assessment

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 New Face of Genetics: Creating A Multimedia Educational Tool for the Twenty-First Century

Science.gov (United States)

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.

Control of urinary schistosomiasis on Zanzibar (Unguja Island: a pilot evaluation of the educational impact of the Juma na Kichocho health booklet within primary schools

Directory of Open Access Journals (Sweden)

JR Stothard

2006-10-01

Full Text Available To improve health education within primary schools, the health education booklet Juma na kichocho was evaluated during a study within 5 schools using key-informant questionnaires that recorded children's knowledge and attitude (KA towards schistosomiasis before and after daily structured-use of booklets. A total of 229 schoolchildren (114 boys : 115 girls of between 11 and 15 years of age were interviewed and re-assessed after a working school week. Existing and putative booklet-induced changes in KA scores for schistosomiasis were compared directly against equivalent KA scores for malaria. In total 47.4% of children were already aware that schistosomiasis was a water-borne disease while only 10.5% knew of its exact aetiology; after booklet intervention these levels increased to 54.6 and 15.7%, respectively. The majority of children still failed, however, to realise that re-infection could take place soon after treatment. While a positive increase was observed for children's total KA questionnaire scores for both malaria and schistosomiasis after booklet intervention, these were not statistically significant. In the context of control, further educational efforts are needed to promote and guide behavioural change, especially in relation to reduction of environmental water contact.

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.

38 CFR 21.6100 - Counseling.

Science.gov (United States)

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...

The perceived impact of the European registration system for genetic counsellors and nurses.

Science.gov (United States)

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.

Genetic counselors’ implicit racial attitudes and their relationship to communication

Science.gov (United States)

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

43 CFR 41.425 - Counseling and use of appraisal and counseling materials.

Science.gov (United States)

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...

Genetics Home Reference: chylomicron retention disease

Science.gov (United States)

... 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 ...

38 CFR 21.100 - Counseling.

Science.gov (United States)

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...

38 CFR 21.7600 - Counseling.

Science.gov (United States)

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

Women’s Equal Rights and Islam in Sudanese Republican Thought: A Translation of Three Family Law Booklets from 1975, Produced and Circulated by the Republican Sisters

OpenAIRE

al-Nagar, Samia; Tønnessen, Liv; Taha, Asma Mahmoud Muhammed

2015-01-01

This paper includes a translation of three booklets produced by the Sudanese Republican Sisters in commemoration of International Women’s Day in 1975: (i) Women Rights in the Constitution and under Sudanese Sharia Laws , (i) Divorce Is Not an Original Precept in Islam , and (iii) Polygamy Is Not a Principle of Islam. The booklets give insights into radical views on women’s equal rights in Islam long before the term “Islamic feminism” started to circulate. The booklets tackle contested iss...

Easy calculations of lod scores and genetic risks on small computers.

Science.gov (United States)

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

Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling.

Science.gov (United States)

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.

38 CFR 21.8100 - Counseling.

Science.gov (United States)

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...

38 CFR 21.9580 - Counseling.

Science.gov (United States)

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

Science.gov (United States)

... 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 ...

Chain Reaction. Culture and Social Organization Booklet 3. Teacher's Edition=Reaccion en cadena. Cultura y organizacion social libro 3. Manual para El Maestro.

Science.gov (United States)

California State Polytechnic Univ., Pomona. National Multilingual Multicultural Materials Development Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

Administration Booklet: Teachers' Rating Questionnaire (Grade 2). Revised Form 1974. Paper No. 125.

Science.gov (United States)

Wright, E.N.; Wyman, W.C.

Specific criteria for the rating of each questionnaire item are stated in detail. The teacher is asked, after reading the questions carefully, to assign each second grade student a rating for every question. This rating should be based on a personal knowledge of the student. The booklet is divided into three sections with section 1 focusing on…

Vehicles under electricity. Result booklet; Autos unter Strom. Ergebnisbroschuere

Energy Technology Data Exchange (ETDEWEB)

NONE

2011-09-15

The booklet under consideration reports on the environmental relief of electric-driven vehicles by means of the research project OPTUM 'Potentials of environmental relief of electric driven vehicles - Integrated analysis of vehicle usage and energy economy'. Experts from the Institute for Applied Ecology (Freiburg, Federal Republic of Germany) and the Institute for Social-Ecological Research (Frankfurt (Main), Federal Republic of Germany) are devoted to the following issues: (1) What is the acceptance for electric-driven vehicles?; (2) What is their future market potential?; (3) What are the advantages of electromobility with respect to the climate?; (4) Are their supply shortages concerning major raw materials?.

38 CFR 21.3102 - Required counseling.

Science.gov (United States)

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...

Adventure Counseling as an Adjunct to Group Counseling in Hospital and Clinical Settings

Science.gov (United States)

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.

Science.gov (United States)

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

OpenAIRE

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...

Pre-counseling education for low literacy women at risk of Hereditary Breast and Ovarian Cancer (HBOC): patient experiences using the Cancer Risk Education Intervention Tool (CREdIT).

Science.gov (United States)

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.

Professional challenges in cancer genetic testing: who is the patient?

Science.gov (United States)

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.

Science.gov (United States)

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,…

The Process and Experience of Online Group Counseling for Masters-Level Counseling Students

Science.gov (United States)

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,…

Counseling-Related Research in Counseling Psychology: Creating Bricks, Not Edifices

Science.gov (United States)

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…

Making Sense of Your Genes: A Guide to Genetic Counseling

Science.gov (United States)

... 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 ...

Counseling Ethics Education Experience: An Interpretive Case Study of the First Year Master's Level Counseling Students

Science.gov (United States)

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.

Science.gov (United States)

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...

Feasibility of 2 x 24-h dietary recalls combined with a food-recording booklet, using EPIC-Soft, among schoolchildren

DEFF Research Database (Denmark)

Trolle, Ellen; Amiano, P.; Ege, Majken

2011-01-01

Background/Objectives: The aim of this study was to evaluate the feasibility of the suggested trans-European methodology for undertaking representative dietary surveys among schoolchildren: 2 x 24-h dietary recalls (24-HDRs) combined with a food-recording booklet, using EPIC-Soft (the software......-8 years and 47 children aged 12-13 years were recruited through schools in Spain. Each child with one parent completed two face-to-face 24-HDRs, combined with optional use of a food-recording booklet (FRB) to be filled in by the child, a parent or other proxy persons for preparing the recalls. Feasibility...

Contraceptive counseling for adolescents.

Science.gov (United States)

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.

Genetics Home Reference: spastic paraplegia type 8

Science.gov (United States)

... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

Genetics Home Reference: spastic paraplegia type 31

Science.gov (United States)

... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

Genetics Home Reference: familial paroxysmal nonkinesigenic dyskinesia

Science.gov (United States)

... slow, prolonged contraction of muscles (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 ...

Genetics Home Reference: familial paroxysmal kinesigenic dyskinesia

Science.gov (United States)

... 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 ...

Addiction Counseling Accreditation: CACREP's Role in Solidifying the Counseling Profession

Science.gov (United States)

Hagedorn, W. Bryce; Culbreth, Jack R.; Cashwell, Craig S.

2012-01-01

In this article, the authors discuss the Council for Accreditation of Counseling and Related Educational Programs' (CACREP) role in furthering the specialty of addiction counseling. After sharing a brief history and the role of counselor certification and licensure, the authors share the process whereby CACREP developed the first set of…

The psychological impact of genetic testing on parents.

Science.gov (United States)

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.

Counseling Graduate Students.

Science.gov (United States)

Caple, Richard B.

1995-01-01

Explores how the understanding of graduate students' special needs and circumstances enhances counseling of this population. Looks at stress factors, educational preparation, delayed gratification, achieving autonomy, intellectual development, and the counseling process. Emphasizes the importance of establishing trust in the therapeutic dialog so…

Predicting Factors of Drop Out Counseling Process in University Psychological Counseling and Guidance Center

Directory of Open Access Journals (Sweden)

Omer OZER

2015-03-01

Full Text Available Objective: Objective: The purpose of this study is to evaluate the predicting factors the drop out the counseling process. Methods: The study group consists of 555 college students admitted to a Counseling and Guidance Center (CGC and participated in at least one session of counseling after the first view in the 2013-2014 academic year. As a data collection tool, an “Application Form” on the demographic information and the “Brief Symptom Inventory” was applied to the students; and independent samples t-test and binary logistic regression techniques were used in the analysis of the collected data. Results: According to the analysis results, the age of the students attending the counseling process was found to be higher than those who drop out, but no significant difference was found in their psychometric properties in terms of continuation of the counseling process. Only the age of clients and their previous psychiatric help history was found to predict the dropping out counseling process early. Conclusion: Drop outs are less frequently observed in clients having a previous psychiatric help experience. In addition, it was determined that older clients less frequently drop out the counseling process

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.

Will the Real You Stand Up? Personality Booklet 2. Teacher's Edition=Que se identifique el verdadero tu. Personalidad libro 2. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education, consisting of six major thematic modules with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve their own…

Privacy and confidentiality measures in genetic testing and counselling: arguing on genetic exceptionalism again?

Science.gov (United States)

Witt, Magdalena M; Witt, Michał P

2016-11-01

Medical confidentiality in clinical genetics poses an important question about its scope, which would be in line with professional ethics and simple honesty. It is already known that the maintenance of absolute anonymity, bearing in mind the current progress of genetic techniques, is virtually impossible. On the other hand, our insight into the information contained in the human genome is increasing. This mini-review presents the authors' standpoint regarding this complex and difficult issue.

Counseling through Images: Using Photography to Guide the Counseling Process and Achieve Treatment Goals

Science.gov (United States)

Ginicola, Misty M.; Smith, Cheri; Trzaska, Jessica

2012-01-01

Creative approaches to counseling help counselors to meet the needs of diverse populations. The utility of photography in counseling has been demonstrated through several case studies; however, clear implications of how photography relates to the counseling process have not been well delineated. The existing literature on phototherapy is reviewed…

GENETIC TESTING AND RELATED ETHICAL ISSUES

African Journals Online (AJOL)

Enrique

person, such as a genetic nurse, should inform them of their options and then refer them to a ... cation and counselling could fall to primary care doctors and nurses. Few pri- mary health care ... no prevention, treatment or cure, is very different.

Grade 12 Diploma Examination, English 30. Part B: Reading (Multiple Choice). Readings Booklet. 1986 Edition.

Science.gov (United States)

Alberta Dept. of Education, Edmonton.

Intended for students taking the Grade 12 Examination in English 30 in Alberta, Canada, this reading test (to be administered along with the questions booklet) contains 10 short reading selections taken from fiction, nonfiction, poetry, and drama, including the following: "My Magical Metronome" (Lewis Thomas); "Queen Street…

Role of genetic testing for inherited prostate cancer risk: Philadelphia prostate cancer consensus conference 2017

NARCIS (Netherlands)

V.N. Giri (Veda); Knudsen, K.E. (Karen E.); Kelly, W.K. (William K.); Abida, W. (Wassim); G.L. Andriole (Gerald); C.H. Bangma (Chris); Bekelman, J.E. (Justin E.); Benson, M.C. (Mitchell C.); A. Blanco (Amie); Burnett, A. (Arthur); Catalona, W.J. (William J.); Cooney, K.A. (Kathleen A.); M.R. Cooperberg (Matthew); D. Crawford (David); Den, R.B. (Robert B.); Dicker, A.P. (Adam P.); S. Eggener (Scott); N.E. Fleshner (Neil); Freedman, M.L. (Matthew L.); F. Hamdy (Freddie); Hoffman-Censits, J. (Jean); Hurwitz, M.D. (Mark D.); Hyatt, C. (Colette); Isaacs, W.B. (William B.); Kane, C.J. (Christopher J.); Kantoff, P. (Philip); R.J. Karnes (Jeffrey); Karsh, L.I. (Lawrence I.); Klein, E.A. (Eric A.); Lin, D.W. (Daniel W.); Loughlin, K.R. (Kevin R.); Lu-Yao, G. (Grace); Malkowicz, S.B. (S. Bruce); Mann, M.J. (Mark J.); Mark, J.R. (James R.); McCue, P.A. (Peter A.); Miner, M.M. (Martin M.); Morgan, T. (Todd); Moul, J.W. (Judd W.); Myers, R.E. (Ronald E.); Nielsen, S.M. (Sarah M.); Obeid, E. (Elias); Pavlovich, C.P. (Christian P.); Peiper, S.C. (Stephen C.); D.F. Penson (David F.); D.P. Petrylak (Daniel P); Pettaway, C.A. (Curtis A.); R. Pilarski (Robert); P. Pinto (Peter); Poage, W. (Wendy); Raj, G.V. (Ganesh V.); R. Rebbeck (Timothy); M. Robson (Mark); Rosenberg, M.T. (Matt T.); Sandler, H. (Howard); A.O. Sartor (Oliver); Schaeffer, E. (Edward); Schwartz, G.F. (Gordon F.); Shahin, M.S. (Mark S.); N.D. Shore (Neal); Shuch, B. (Brian); Soule, H.R. (Howard R.); S.A. Tomlins (Scott A); Trabulsi, E.J. (Edouard J.); Uzzo, R. (Robert); Griend, D.J.V. (Donald J. Vander); P.C. Walsh (Patrick); Weil, C.J. (Carol J.); Wender, R. (Richard); Gomella, L.G. (Leonard G.)

2018-01-01

textabstractPurpose: Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling,

Breast Cancer Genetic Counseling: A Surgeon’s Perspective

Directory of Open Access Journals (Sweden)

Doreen Marie Agnese

2016-01-01

Full Text Available As surgeons who care for patients with breast cancer, the possibility of a cancer diagnosis being related to a hereditary predisposition is always a consideration. Not only are we as surgeons always trying to identify these patients and families, but also we are often asked about a potential hereditary component by the patients and their family members. It is therefore critical that we accurately assess patients to determine who may benefit from genetic testing. Importantly, the potential benefit for identifying a hereditary breast cancer extends beyond the patient to other family members and the risk may not be only for the development of breast cancers, but for other cancers as well. As a surgeon with additional training in clinical cancer genetics, I have perhaps a unique perspective on the issue and feel that a review of some of the more practical considerations is important.

Exploration of Support Behavior in Counseling Groups with Counseling Trainees

Science.gov (United States)

Harel, Yoni; Shechtman, Zipora; Cutrona, Carolyn

2012-01-01

The study explores the types of support expressed in counseling groups attended by trainee counselors. Support is a crucial factor in human life in general, and in groups in particular, yet little is known about the type of support presented in counseling groups. Type of support was categorized by means of the Social Support Behavior Code (SSBC;…

Working Alliance as a Mediator and Moderator between Expectations for Counseling Success and Counseling Outcome among Korean Clients

Science.gov (United States)

Yoo, Sung-Kyung; Hong, Sehee; Sohn, Nanhee; O'Brien, Karen M.

2014-01-01

The study examined client's perceptions of working alliance as a mediator and moderator between client expectations of counseling success and counseling outcome. Participants were 284 adult clients in counseling in university or community counseling centers or private practices in South Korea. Level of functioning at the start of counseling was…

Assessing and counseling the obese patient: Improving resident obesity counseling competence.

Science.gov (United States)

Iyer, Shwetha; Jay, Melanie; Southern, William; Schlair, Sheira

To evaluate obesity counseling competence among residents in a primary care training program METHODS: We delivered a 3h obesity curriculum to 28 Primary Care residents and administered a pre-curriculum and post curriculum survey looking specifically at self-assessed obesity counseling competence. Nineteen residents completed both the pre curriculum survey and the post curriculum survey. The curriculum had a positive impact on residents' ability to ascertain patient's stage of change, use different methods to obtain diet history (including 24h recall, food record or food frequency questionnaire), respond to patient's questions regarding treatment options, assist patients in setting realistic goals for weight loss based on making permanent lifestyle changes, and use of motivational interviewing to change behavior. When looking at the 5As domains, there was a significant improvement in the domains of Assess, Advise, and Assist. The proportion of residents with a lower level of self-assessed obesity counseling competence reduced from 75% before the curriculum to 37.5% (p=0.04) after the curriculum. Our curriculum addressing weight loss counseling using the 5As model increased obesity counseling competence among residents in a primary care internal medicine residency program. Copyright © 2018 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.

Religion and Spirituality in Group Counseling: Beliefs and Practices of University Counseling Center Counselors

Science.gov (United States)

Post, Brian C.; Cornish, Marilyn A.; Wade, Nathaniel G.; Tucker, Jeritt R.

2013-01-01

Fifty-four counselors at 9 university counseling centers participated in a study regarding religion and spirituality (R/S) in group counseling. The majority indicated that R/S is an appropriate topic for group counseling and that some religious and spiritual interventions are appropriate to use. However, counselors rarely use these interventions.…

Online Counseling: New Entity, New Challenges

Science.gov (United States)

Barnett, Jeffrey E.

2005-01-01

Mallen, Vogel, and colleagues explore the developing field of online counseling from the unique perspective of counseling psychology. They examine the body of available research and relevant clinical, ethical, legal, and practical issues and make recommendations for counseling psychologists who desire to participate in online counseling. This…

Counseling for Empowerment.

Science.gov (United States)

McWhirter, Ellen Hawley

Counseling for empowerment is a complex and multifaceted process that requires, for some, a radical departure from the traditional conceptualization of the helper's role. The process of empowerment demands that professional helpers and their clients take an active, collaborative approach to identifying problems and goals. Drawing from counseling,…

Counseling Services for Women in Marriage Age

OpenAIRE

Frischa Meivilona Yendi; Zadrian Ardi; Ifdil Ifdil

2015-01-01

Marriage is a bond between the outer and inner man as a husband who has not aged 25 years and women 21 years old wife is not with the purpose of achieving happiness. Marriage and family counseling is a profession that will be developed in Indonesia. Counseling emphasizes on changes contained in the family system. Stages counseling, theory and dynamics as well as the use of counseling skills in marriage and family counseling has similarities with individual counseling and group counseling.

28 CFR 550.43 - Drug counseling.

Science.gov (United States)

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...

Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?

Science.gov (United States)

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.

Counseling Services for Women in Marriage Age

Directory of Open Access Journals (Sweden)

Frischa Meivilona Yendi

2015-11-01

Full Text Available Marriage is a bond between the outer and inner man as a husband who has not aged 25 years and women 21 years old wife is not with the purpose of achieving happiness. Marriage and family counseling is a profession that will be developed in Indonesia. Counseling emphasizes on changes contained in the family system. Stages counseling, theory and dynamics as well as the use of counseling skills in marriage and family counseling has similarities with individual counseling and group counseling.

34 CFR 685.304 - Counseling borrowers.

Science.gov (United States)

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...

28 CFR 551.113 - Counseling.

Science.gov (United States)

2010-07-01

... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Counseling. 551.113 Section 551.113... Pretrial Inmates § 551.113 Counseling. (a) When consistent with institution security and good order, pretrial inmates may be allowed the opportunity to receive counseling services with convicted inmates. (b...

Multicultural and Social Justice Counseling Competencies: Guidelines for the Counseling Profession

Science.gov (United States)

Ratts, Manivong J.; Singh, Anneliese A.; Nassar-McMillan, Sylvia; Butler, S. Kent; McCullough, Julian Rafferty

2016-01-01

In 2014, the Association for Multicultural Counseling and Development (AMCD) appointed a committee to revise the Multicultural Counseling Competencies developed by Sue, Arredondo, and McDavis in 1992 and operationalized by Arredondo et al. in 1996. This article reflects the updated competencies, titled the Multicultural and Social Justice…

You and Beyond. Culture and Social Organization Booklet 2. Teacher's Edition=Tu y mas alla. Cultura y organizacion social libro 2. Manual para El Maestro.

Science.gov (United States)

California State Univ., Los Angeles. National Dissemination and Assessment Center.

The booklet is part of a grade 10-12 social studies series produced for bilingual education. The series consists of six major thematic modules, with four to five booklets in each. The interdisciplinary modules are based on major ideas and designed to help students understand some major human problems and make sound, responsive decisions to improve…

Review of School Counseling Outcome Research

Science.gov (United States)

Whiston, Susan C.; Quinby, Robert F.

2009-01-01

This article is somewhat unique in this special issue as it focuses on the effectiveness of an array of school counseling interventions and not solely on individual and group counseling. In summarizing the school counseling outcome literature, the authors found that students who participated in school counseling interventions tended to score on…

Abraham Maslow's Legacy for Counseling.

Science.gov (United States)

Hoffman, Edward

1990-01-01

Reviews the life of Abraham Maslow, a key founder of the humanistic approach to counseling, and his contributions to the counseling field. Maintains that Maslow's innovative work was often misinterpreted by both his admirers and his critics, yet remains highly relevant to current concerns in counseling. (Author/PVV)

Do Counseling and Marketing Mix?

Science.gov (United States)

Fong-Beyette, Margaret L.

1988-01-01

Responds to Wittman's previous article on counseling and marketing by discussing concerns about two of Wittman's purposes for use of marketing: improved services in consumers and economic survival of counseling profession. Agrees that counseling profession needs to understand basic marketing principles used by business and health care industry;…

Role Induction in Career Counseling

Science.gov (United States)

Fouad, Nadya A.; Kantamneni, Neeta; Chen, Yung-Lung; Novakovic, Alexandra; Guillen, Amy; Priester, Paul E.; Henry, Caroline; Terry, Sarah

2007-01-01

Many vocational psychologists advocate addressing career as well as personal concerns in career counseling. However, some clients may have inappropriate expectations toward career counseling and may not be prepared or want to discuss personal issues. This study examined whether perceptions of the career counseling process could be modified with…

24 CFR 206.41 - Counseling.

Science.gov (United States)

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...

20 CFR 638.517 - Counseling.

Science.gov (United States)

2010-04-01

... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Counseling. 638.517 Section 638.517 Employees... THE JOB TRAINING PARTNERSHIP ACT Center Operations § 638.517 Counseling. The center operator shall establish and conduct an ongoing structured counseling program in accordance with procedures issued by the...

Genetics Home Reference: lattice corneal dystrophy type II

Science.gov (United States)

... leading to muscle weakness, clumsiness, and difficulty sensing vibrations. The skin is also commonly affected in people ... Lamp Examination General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

Edo Journal of Counselling

African Journals Online (AJOL)

Edo Journal of Counselling, the official publication of Edo Chapter of Counselling ... The Mediating Impact of Personality and Socio-Economic Status in the ... Fostering Adolescents' Interpersonal Behaviour: An Empirical Assessment of ...

Marriage Counselling in Australia: An Evaluation.

Science.gov (United States)

Wolcott, Ilene; Glezer, Helen

A study was conducted of the effectiveness of marriage counseling with respect to marital status and the long-term stability of relationships. Data were gathered from clients of approved Australian marriage counseling agencies (n=540) who took a pre-counseling survey during a 4-week period in October-November 1987 and a post-counseling survey 8…

Counseling in Singapore

Science.gov (United States)

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…

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.

From Novice to Seasoned Practitioner: a Qualitative Investigation of Genetic Counselor Professional Development.

Science.gov (United States)

Zahm, Kimberly Wehner; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S

2016-08-01

Research on genetic counselor professional development would characterize typical developmental processes, inform training and supervision, and promote life-long development opportunities. To date, however no studies have comprehensively examined this phenomenon. The aims of this study were to investigate the nature of professional development for genetic counselors (processes, influences, and outcomes) and whether professional development varies across experience levels. Thirty-four genetic counselors participated in semi-structured telephone interviews exploring their perspectives on their professional development. Participants were sampled from three levels of post-degree genetic counseling experience: novice (0-5 years), experienced (6-14 years), and seasoned (>15 years). Using modified Consensual Qualitative Research and grounded theory methods, themes, domains, and categories were extracted from the data. The themes reflect genetic counselors' evolving perceptions of their professional development and its relationship to: (a) being a clinician, (b) their professional identity, and (c) the field itself. Across experience levels, prevalent influences on professional development were interpersonal (e.g., experiences with patients, genetic counseling colleagues) and involved professional and personal life events. Common developmental experiences included greater confidence and less anxiety over time, being less information-driven and more emotion-focused with patients, delivering "bad news" to patients remains challenging, and individuals' professional development experiences parallel genetic counseling's development as a field. With a few noteworthy exceptions, professional development was similar across experience levels. A preliminary model of genetic counselor professional development is proposed suggesting development occurs in a non-linear fashion throughout the professional lifespan. Each component of the model mutually influences the others, and there