Sample records for genetic counseling session

  1. Spiritual Exploration in the Prenatal Genetic Counseling Session. (United States)

    Sagaser, Katelynn G; Shahrukh Hashmi, S; Carter, Rebecca D; Lemons, Jennifer; Mendez-Figueroa, Hector; Nassef, Salma; Peery, Brent; Singletary, Claire N


    Religion and spirituality (R/S) are important components of many individuals' lives, and spirituality is often employed by women coping with pregnancy complications. To characterize how prenatal genetic counselors might address spiritual issues with patients, 283 English and Spanish speaking women receiving prenatal genetic counseling in Houston, Texas were surveyed post-counseling using both the Brief RCope and questions regarding interest in spiritual exploration. Genetic counselors were concurrently surveyed to identify religious/spiritual language used within sessions and perceived importance of R/S. Genetic counselors were significantly more likely to identify R/S as important to a patient when patients used religious/spiritual language (p spiritual terms were present, the counselor felt uncertain about the importance of R/S 63 % of the time. However, 67 % of patients reported that they felt comfortable sharing their faith as it relates to their pregnancy, and 93 % reported using positive religious coping. Less than 25 % reported a desire for overt religious actions such as prayer or scripture exploration. Therefore, most patients' desires for spiritual exploration center in the decision making and coping processes that are in line with the genetic counseling scope of practice. Thus, counselors should feel empowered to incorporate spiritual exploration into their patient conversations.

  2. Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session


    Enns, Emily E.; Boudreault, Patrick; Palmer, Christina G.


    Given the medical and cultural perspectives on deafness it is important to determine if genetic counselors’ attitudes toward deaf people can affect counseling sessions for deafness genes. One hundred fifty-eight genetic counselors recruited through the National Society of Genetic Counselors Listserv completed an online survey assessing attitudes toward deaf people and scenario-specific comfort levels discussing and offering genetic testing for deafness. Respondents with deaf/Deaf friends or w...

  3. Genetic Counseling (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  4. Interactive decision support for risk management: a qualitative evaluation in cancer genetic counselling sessions. (United States)

    Glasspool, David W; Oettinger, Ayelet; Braithwaite, Dejana; Fox, John


    Genetic counselling for inherited susceptibility to cancer involves communication of a significant amount of information about possible consequences of different interventions. This study explores counsellors' attitudes to computer software designed to aid this process. Eight genetic counsellors used the software with actors playing patients. Clinicians' rating of expected patient satisfaction, content, accuracy, timeliness, format, overall value, ease of use, effect on the patient-provider relationship and effect on clinician's performance were evaluated via qualitative and quantitative analysis of interviews, training tasks and questionnaires. Most counsellors found the software effective. Concerns related to possible impact on consultation dynamics and content. Participants suggested countering these through appropriate new counselling skills and selective use of the computer. The REACT software could provide effective support for genetic risk management counselling.

  5. Genetic Counseling (United States)

    ... for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition To learn about the ...

  6. Primer on genetic counseling. (United States)

    Hahn, Susan Estabrooks


    Once limited to rare mendelian disorders, genetic counseling is playing an ever-increasing role in the multidisciplinary approach to predicting, diagnosing, and managing neurologic disease. However, genetic counseling services may not be optimized because of lack of availability and lack of knowledge regarding when it is appropriate to refer, what occurs in genetic counseling, and how genetic counseling can affect care. These issues are addressed in this article, along with corresponding clinical scenarios. Websites to find genetic counseling services and resources are also provided.

  7. Genetic counseling (United States)

    ... MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30. Review Date 1/25/2016 Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare ...

  8. Inside Look at Genetic Counseling (United States)

    ... us An Inside Look at Genetic Counseling Katie Lewis is a genetic counselor and research coordinator at ... sequencing looks at almost all of a person’s genes. The basic idea is that the sequencing can ...

  9. Frequently Asked Questions about Genetic Counseling (United States)

    ... on this page Frequently Asked Questions About Genetic Counseling What are genetic professionals and what do they ... genetics nurses. Top of page What is genetic counseling and evaluation? Genetic professionals work as members of ...

  10. Multicultural education and genetic counseling. (United States)

    Weil, J


    The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural education, training, and practice of genetic counseling involves three major components: knowledge of relevant ethnocultural groups, ethnocultural self-awareness, and an understanding of institutional and social barriers to services. Despite the diversity of ethnocultural groups served and the critical role of direct experience and training for the genetic counselor, some general guidelines for multicultural genetic counseling can be identified. These include the importance of establishing and maintaining trust, the essential need to respect the counselee's healthcare beliefs and practices, and the necessity of understanding the impact of culture on the process of decision making and on counselee responses to nondirective counseling.

  11. [The emphases and basic procedures of genetic counseling in psychotherapeutic model]. (United States)

    Zhang, Yuan-Zhi; Zhong, Nanbert


    The emphases and basic procedures of genetic counseling are all different with those in old models. In the psychotherapeutic model, genetic counseling will not only focus on counselees' genetic disorders and birth defects, but also their psychological problems. "Client-centered therapy" termed by Carl Rogers plays an important role in genetic counseling process. The basic procedures of psychotherapeutic model of genetic counseling include 7 steps: initial contact, introduction, agendas, inquiry of family history, presenting information, closing the session and follow-up.

  12. Definitional Ceremonies: Integrating Community into Multicultural Counseling Sessions (United States)

    Bitter, James Robert; Robertson, Patricia E.; Roig, Grace; Disqueact, J. Graham


    Definitional Ceremonies are used as a forum for integrating members of diverse cultures into multicultural counseling sessions. The authors provide a philosophical foundation, implementation process, and excerpts from a typescript of a recent definitional ceremony involving a women and her mother, both recently in the United States from Panama.

  13. Implementing Problem-Based Learning in the Counseling Session. (United States)

    Hall, Kimberly R.

    This study examined the use of problem-based learning (PBL) in an actual counseling session and the effects on student assertiveness skills. A group of seventh-grade students, who were all victims of bullies, participated in the study. The students, two boys and one girls, were 13 and 14 years old. Teachers rated the level of assertiveness skills…

  14. Performance Assessment of Counseling Skills Based on Specific Theories: Acquisition, Retention and Transfer to Actual Counseling Sessions (United States)

    Schaefle, Scott; Smaby, Marlowe H.; Packman, Jill; Maddux, Cleborne D.


    The purposes of the present study were to determine if (a) students trained to demonstrate specific skills learn these skills and transfer them to actual counseling sessions; (b) mastery of counseling skills differs by students' adherence to one of four general counseling theories; (c) mastery of counseling skills is related to counseling goal…

  15. Genetic Counseling for Congenital Heart Defects (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  16. Family Assessment and Genetic Counseling. (United States)

    Carpenter, Pat; And Others

    Presented are two papers from a panel discussion on prenatal diagnosis and genetic counseling with families. D. Blackston (director of the Developmental Evaluation Clinic, Decatur, Georgia) points out that a concise family history, pregnancy and birth data, developmental history, careful physical examination, and appropriate laboratory studies are…

  17. Models of genetic counseling and their effects on multicultural genetic counseling. (United States)

    Lewis, Linwood J


    This theoretical paper examines challenges to multicultural genetic counseling, counseling between culturally different clients and counselors, in the context of Kessler's typology of models of genetic counseling (Kessler S (1997) J Genet Counsel 6:287-295). It is suggested that challenges such as resistance to multicultural genetic counseling education may be due to conceptions about genetic counseling as a biomedical field that transcends questions of culture as well as lack of multicultural training or prejudice. Directions for future research and recommendations for multicultural genetic counseling education are briefly explored.

  18. Genetic Counseling in Military Hospitals (United States)


    the result of the negligence of a doctor or pharmacist. Examples of wrongful pregnancy claims are physicians who negligently perform tubal ligations ...plaintiffs sued for the alleged breach of a post conception duty of the treating physicians to advise the plaintiffs of the implications of the mother’s...sergeant, wife, and two daughters for alleged negligent genetic counseling. The Harbeson children were born with fetal hydantoin syndrome . 4 6 The

  19. Discourse analytic study of counseling sessions in stroke physiotherapy. (United States)

    Talvitie, Ulla; Pyöriä, Outi


    Studies on the interaction between physiotherapists and patients during treatment sessions have found low levels of communicative participation by patients and lack of direct influence by patients on the content of their treatment. This article reports the results of 7 counseling sessions in which physiotherapists and patients with stroke and their caregivers discussed the patients' postural control and balance, which had been tested and videotaped at different stages of the rehabilitation process. The physiotherapists' discourses relating to the videotaped test performances were either brief comments on the patient's performance or critical appraisals with references to difficulties encountered during performance. Performances of the easier tasks were treated by the physiotherapists with rhetorical questions. The second type of discourse consisted of the physiotherapists directing the patients' attention to their problems, and of the patients' and caregivers' initiatives leading to conversation about the patients' problems. The patients understood the significance of the test performance for their life at home in varying ways. The results of this study showed that successful counseling calls for physiotherapists to develop dialogic communication skills to help patients in coconstructing their home exercise together with their social network.

  20. Genetic Counseling for Diabetes Mellitus (United States)

    Stein, Stephanie A.; Maloney, Kristin L.; Pollin, Toni I.


    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

  1. Experience with genetic counseling: the adolescent perspective. (United States)

    Pichini, Amanda; Shuman, Cheryl; Sappleton, Karen; Kaufman, Miriam; Chitayat, David; Babul-Hirji, Riyana


    Adolescence is a complex period of development that involves creating a sense of identity, autonomy, relationships and values. This stage of adjustment can be complicated by having a genetic condition. Genetic counseling can play an important role in providing information and support to this patient population; however, resources and guidelines are currently limited. In order to appropriately establish genetic counseling approaches and resource development, we investigated the experiences and perspectives of adolescents with a genetic condition with respect to their genetic counseling interactions. Using a qualitative exploratory approach, eleven semi-structured interviews were conducted with adolescents diagnosed with a genetic condition who received genetic counseling between the ages of 12 and 18 years at The Hospital for Sick Children. Transcripts were analyzed thematically using qualitative content analysis, from which three major interrelated themes emerged: 1) understanding the genetic counselor's role; 2) increasing perceived personal control; and 3) adolescent-specific factors influencing adaptation to one's condition. Additionally, a list of suggested tools and strategies for genetic counseling practice were elucidated. Our findings can contribute to the development of an adolescent-focused framework to enhance emerging genetic counseling approaches for this patient population, and can also facilitate the transition process from pediatric to adult care within patient and family-centered contexts.

  2. Reproductive decisions after fetal genetic counselling. (United States)

    Pergament, Eugene; Pergament, Deborah


    A broad range of testing modalities for fetal genetic disease has been established. These include carrier screening for single-gene mutations, first-trimester and second-trimester screening for chromosome abnormalities and open neural-tube defects, prenatal diagnosis by means of chorionic villus sampling and amniocentesis, and preimplantation genetic diagnosis. Reproductive decisions before and after fetal genetic counselling represent the culmination of a dynamic interaction between prospective parents, obstetrician and genetic counsellor. The decision to undergo genetic testing before and after genetic counselling is influenced by a host of interrelated factors, including patient-partner and family relationships, patient-physician communication, societal mores, religious beliefs, and the media. Because of the complexity of personal and societal factors involved, it is not surprising that genetic counselling concerning reproductive decision-making must be individualised. A limited number of principles, guidelines and standards apply when counselling about testing for fetal genetic disease. These principles are that genetic counselling should be non-directive and unbiased and that parental decisions should be supported regardless of the reproductive choice. A critical responsibility of the obstetrician and genetic counsellor is to provide accurate and objective information about the implications, advantages, disadvantages and consequences of any genetic testing applied to prospective parents and their fetuses. These principles and responsibilities will be tested as newer technologies, such as array comparative genome hybridisation, non-invasive prenatal diagnosis and sequencing of the entire genome are introduced into the field of reproductive genetics and become routine practice.

  3. Delivery of Internet-based cancer genetic counselling services to patients' homes: a feasibility study. (United States)

    Meropol, Neal J; Daly, Mary B; Vig, Hetal S; Manion, Frank J; Manne, Sharon L; Mazar, Carla; Murphy, Camara; Solarino, Nicholas; Zubarev, Vadim


    We examined the feasibility of home videoconferencing for providing cancer genetic education and risk information to people at risk. Adults with possible hereditary colon or breast and ovarian cancer syndromes were offered Internet-based counselling. Participants were sent web cameras and software to install on their home PCs. They watched a prerecorded educational video and then took part in a live counselling session with a genetic counsellor. A total of 31 participants took part in Internet counselling sessions. Satisfaction with counselling was high in all domains studied, including technical (mean 4.3 on a 1-5 scale), education (mean 4.7), communication (mean 4.8), psychosocial (mean 4.1) and overall (mean 4.2). Qualitative data identified technical aspects that could be improved. All participants reported that they would recommend Internet-based counselling to others. Internet-based genetic counselling is feasible and associated with a high level of satisfaction among participants.

  4. [Insights about uncertainty in genetic counseling]. (United States)

    Huicochea-Montiel, Juan Carlos; Cárdenas-Conejo, Alan; Cervantes-Díaz, María Teresa; Araujo-Solís, María Antonieta de Jesús


    Genetic counseling is an information process to help people in the understanding and adaptation to the medical, psychological and family implications of the genetic contribution in diseases. This counseling encompasses all sorts of patients. This represents a challenge in the daily work of the medical geneticist, because giving information in a meaningful way to the patient and his family implies an emotional and psychological burden. Generally we can see two outcomes in the medical practice of genetics, which converge after a diagnosis process: 1) we can face the inability to reach a diagnostic conclusion or 2) we can establish or confirm a diagnosis with certainty, which is the main piece in the genetic counseling. However, in all the situations the uncertainty is a fact, since in the case of those individuals who come in for genetic counseling before symptoms appear or those in prenatal cases, the absence of clinical manifestations and the impossibility to change the course of events lead to the appearance of helplessness and despair. In those cases without diagnostic conclusion, this situation represents a reason for uncertainty, and even in those patients with a diagnosis, certain factors can modify the circumstances in which genetic counseling occurs, such as unpredictability or lack of control. Therefore, it is important to consider the management of uncertainty as an inherent part throughout the process of care in medical genetics. The teaching of medical genetics should also consider the inclusion of topics related to this circumstance.

  5. Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care. (United States)

    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 travelling distances, generally showing positive patient outcomes. We think online counselling--including the use of supportive tools that are also available during in-person counseling--of presymptomatic patients in their homes can also be feasible and valuable for patients in relatively small regions. We performed a single-centre pilot study of online genetic counselling for 57 patients who were presymptomatic cardiogenetic (n=17), presymptomatic oncogenetic (n=34) and prenatal (3 couples). One-third of presymptomatic patients we approached consented to online counselling. Patient evaluations of practical aspects, satisfaction and psychological outcomes were assessed and compared with a matched control group. Patients managed to fulfil the preparations, were significantly more satisfied with their counsellor and counselling session than controls and were satisfied with the online counselling more than they expected to be beforehand. Psychological outcomes (decreased anxiety and increased control) did not differ with control patients. Technical problems occurred in almost half of online sessions. Nonetheless, online counselling in patients' homes proved to be feasible and was appreciated by a substantial part of presymptomatic patients at our genetics centre in the Netherlands. Based on these outcomes, we conclude online counselling can be a valuable addition to existing counselling options in regular patient care.

  6. Is non-directive communication in genetic counseling possible? (United States)

    Pennacchini, M; Pensieri, C


    In 2007, over 560,000 genetic tests were performed in Italy. However, only 70,154 genetic counseling sessions were conducted. Some say that non-directive counseling is necessary so that the patient understands the test results and the different options available and that the physician should not influence the patient's free choice. We need to clarify the meaning of non-directive consultation and if it is in fact possible. Each doctor has his own values and, in order to achieve the intended purpose, he will give information that, with his verbal, para-verbal and body language will guide the patient to one decision or another. Taking into account the axiom of effective communication "You can't NOT communicate", non-directive counseling is very difficult or even impossible. In genetic counseling, the knowledge that the patient receives of the correct diagnosis and related medical facts and of the applicable genetic considerations is basic to the entire process. Nonetheless, such knowledge in itself is not sufficient if it cannot be appropriately imparted to the interested person or persons. We think "persuasion" is not the right method, but instead "convince" meaning "co-win", "win together" may be the best approach to a problem of such great importance. The counselor will have achieved the desired goal with his patient if he is able to channel the emotion towards a mutually beneficial objective. The primary goal is not to persuade but to win-together (convince) with the patient and the unborn child.

  7. Genetic Counseling: Ethical and Professional Role Implications. (United States)

    Witmer, J. Melvin; And Others


    Genetic counseling assists people in identifying potential or manifest genetic problems, understanding their implications, making decisions about what course to follow, and working through psychological and social aspects as they affect individuals or couples. Four ethical principles and related ethical issues pertaining to autonomy, beneficence…

  8. Working with Unrealistic or Unshared Hope in the Counselling Session (United States)

    Larsen, Denise Joy; Stege, Rachel; Edey, Wendy; Ewasiw, Joan


    Hope has long been identified as an important therapeutic factor in counselling. Further, research evidence for the importance of hope to counselling practice and outcome is abundant. However, the field is only beginning to explicitly consider how hope can be effectively and intentionally practised. One of the most challenging dilemmas encountered…

  9. Enhanced prenatal HIV couple oriented counselling session and couple communication about HIV (ANRS 12127 Prenahtest Trial)

    NARCIS (Netherlands)

    Plazy, M.; Orne-Gliemann, J.; Balestre, E.; Miric, M.; Darak, S.; Butsashvili, M.; Tchendjou, P.; Dabis, F.; du Lou, A. Desgrees

    Background. - The Prenahtest study investigated the efficacy of a couple-oriented HIV counselling session (COC) in encouraging couple HIV counselling and testing, and improving intra-couple communication about sexual and reproductive health. We report here on the effect of COC on intra-couple

  10. Enhanced prenatal HIV couple oriented counselling session and couple communication about HIV (ANRS 12127 Prenahtest Trial)

    NARCIS (Netherlands)

    Plazy, M.; Orne-Gliemann, J.; Balestre, E.; Miric, M.; Darak, S.; Butsashvili, M.; Tchendjou, P.; Dabis, F.; du Lou, A. Desgrees


    Background. - The Prenahtest study investigated the efficacy of a couple-oriented HIV counselling session (COC) in encouraging couple HIV counselling and testing, and improving intra-couple communication about sexual and reproductive health. We report here on the effect of COC on intra-couple commun

  11. 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


    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.

  12. The determinants of mothers' knowledge of the Down syndrome before genetic counseling: part II. (United States)

    Seidenfeld, M J; Braitman, A; Antley, R M


    Mothers coming for genetic counseling because they have an infant with the Down syndrome (DS) vary in their amount of knowledge about the cause, recurrence risk, and options for dealing with the recurrence risk. The purpose of this work has been to determine some predictors of the variability in mothers' knowledge of the DS before coming to genetic counseling. Data were collected before counseling through a detailed interview concerning mothers' knowledge of the DS, their demographic background, fertility plan, and attitude toward family planing. These data were "reduced" by multiple-regression analysis, to 7 variables used in a prediction equation for mothers' level of pre-knowledge attainment. These variables were then used to construct a model which was tested by path analysis. Results of analyses showed that about 2/3 of the variance in mothers' pre-knowledge of the DS could be accounted for by 5 independent variables: 1) time from diagnosis to counseling session, 2) date of counseling session, 3) nonreporting of emotional upset, 4) education-occupational status (EOS), and 5) utilization of birth control methods. These findings led to the conclusion that what occurs before counseling is of importance for the outcome of genetic counseling, as measured by the genetic information acquired by the counselees. Some precounseling precedures are suggested on how genetic counselors might be able to gain more control over the important factors that occur before actual counseling.

  13. Genetic Counseling and Evaluation for BRCA1/2 Testing (United States)

    ... to Family Family Stories Diseases Genomic Resources Genetic Counseling for Hereditary Breast and Ovarian Cancer Recommend on ... mutation, your doctor may refer you for genetic counseling. Understanding and dealing with a strong family health ...

  14. The reproductive decision after genetic counseling

    NARCIS (Netherlands)

    P.G. Frets; F. Verhage


    textabstractThe main aims of the studies described in this thesis were to monitor the transfer of information during genetic counseling and to investigate the adequacy of the existing strategies for supporting counselees in their decision-making process, and if necessary, to devise new strategies. T

  15. Genetic counseling in mitochondrial disease. (United States)

    Vento, Jodie M; Pappa, Belen


    Mitochondrial diseases are a genetically and clinically diverse group of disorders that arise as a result of dysfunction of the mitochondria. Mitochondrial disorders can be caused by alterations in nuclear DNA and/or mitochondrial DNA. Although some mitochondrial syndromes have been described clearly in the literature many others present as challenging clinical cases with multisystemic involvement at variable ages of onset. Given the clinical variability and genetic heterogeneity of these conditions, patients and their families often experience a lengthy and complicated diagnostic process. The diagnostic journey may be characterized by heightened levels of uncertainty due to the delayed diagnosis and the absence of a clear prognosis, among other factors. Uncertainty surrounding issues of family planning and genetic testing may also affect the patient. The role of the genetic counselor is particularly important to help explain these complexities and support the patient and family's ability to achieve effective coping strategies in dealing with increased levels of uncertainty.

  16. Genetic counseling training in the Philippines. (United States)

    Laurino, Mercy Ygona; Padilla, Carmencita David


    The recently established Master of Science in Genetic Counseling (MSGC) program serves a vital role in implementing and expanding genetic counseling services in the Philippines. Currently, only eight clinical geneticists practice in the Philippines, a country of approximately 94 million people, which yields a clinical-geneticist-to-population-density ratio of 1:11,750,000. The MSGC program was created to train health care providers to become crucial members of medical genetics teams being formed to meet increasing patient and healthcare provider demands. In 2011, the Board of Regents approved our proposed curriculum at the Department of Pediatrics College of Medicine, University of the Philippines Manila. As we relate how the Philippines began its efforts to implement the program and attempted to overcome the challenges the program faced, we hope we can provide an example to those interested in creating a similar MSGC program in other low-income and middle-income countries.

  17. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women (United States)

    ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women The U.S. Preventive Services ... Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-related Cancer in Women. This final recommendation statement ...

  18. Effect of single session counselling on partner referral for sexually transmitted infections management in Bangladesh. (United States)

    Alam, Nazmul; Streatfield, Peter Kim; Shahidullah, M; Mitra, Dipak; Vermund, Sten H; Kristensen, Sibylle


    This study evaluated the role of single session counselling on partner referral among index cases diagnosed as having sexually transmitted infections (STIs) in Bangladesh. A quasirandomised trial was conducted in 1339 index cases with symptomatic STIs in 3 public and 3 non-government organisation operated clinics. Out of 1339 index cases, partner referral was achieved by 37% in the counselling group and 27% in the non-counselling group. Index cases in the counselling group and non-counselling group were similar in terms of condom use rates, STI symptoms and duration of disease. A quarter of the index cases reported having more than one sex partner in last 3 months, and 39% reported having commercial sex partners. Only 8% of the index cases reported using condoms during their last sex act. Partner referral rates were higher among index clients with higher age, higher income, those who attended NGO clinics, those who had only one partner and among those who had no commercial partners, but counselling had significantly positive impact in all of these subgroups. In multivariate analysis, the probability of partner referral was 1.3 times higher among index cases in the counselling group (prevalence ratio 1.3; 95% CI 1.1 to 1.6) as compared to index cases in the non-counselling group. Patient-oriented single session counselling was found to have a modest but significant effect in increasing partner referral for STIs in Bangladesh, greater emphasis should be placed on examining further development and dissemination of partner referral counselling in STI care facilities.

  19. Genetic counseling content: How does it impact health behavior? (United States)

    Kelly, Kimberly M.; Ellington, Lee; Schoenberg, Nancy; Jackson, Thomas; Dickinson, Stephanie; Porter, Kyle; Leventhal, Howard; Andrykowski, Michael


    Women with hereditary breast-ovarian cancer face decisions about screening (transvaginal ultrasound, CA125, mammography, breast exams) and proactive (before cancer) or reactive (after cancer) surgery (oophorectomy, mastectomy). The content of genetic counseling and its relation to these key health behaviors is largely unexamined. Ashkenazi Jewish women (n = 78) were surveyed through the process of genetic testing and had audiorecorded counseling sessions available for Linguistic Inquiry and Word Count analysis. Proportions for participant and counselor cognitive and affective content during sessions were used as primary predictor variables in linear mixed models for change in intentions for screening and treatment and in self-reported screening. Cognitive and affective content were important predictors of behavior. Counselor cognitive content was associated with ovarian screening. An interaction effect also emerged for CA-125, such that counselor cognitive content plus participant cognitive content or counselor affective content were associated with more screening. Teasing out the factors in risk communication that impact decision-making are critical, and affect from a risk communicator can spur action, such as cancer screening. PMID:25533642

  20. The Development of a Series of Video Taped Counseling Sessions. Final Report. CORD Project. (United States)

    Rimel, Evelyn G.

    The rationale, methods, problems and results of developing a library of video-taped counseling sessions are described. The tapes are intended to capture the counselor-counselee interactive process, so that counselor trainees might see and hear what had taken place rather than be dependent on what they thought had taken place. Such tapes would…

  1. Peering into a Chilean black box: parental storytelling in pediatric genetic counseling. (United States)

    Ordonez, Jessica; Margarit, Sonia; Downs, Katy; Yashar, Beverly M


    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.

  2. Does indirect speech promote nondirective genetic counseling? Results of a sociolinguistic investigation. (United States)

    Benkendorf, J L; Prince, M B; Rose, M A; De Fina, A; Hamilton, H E


    To date, research examining adherence to genetic counseling principles has focused on specific counseling activities such as the giving or withholding of information and responding to client requests for advice. We audiotaped 43 prenatal genetic counseling sessions and used data-driven, qualitative, sociolinguistic methodologies to investigate how language choices facilitate or hinder the counseling process. Transcripts of each session were prepared for sociolinguistic analysis of the emergent discourse that included studying conversational style, speaker-listener symmetry, directness, and other interactional patterns. Analysis of our data demonstrates that: 1) indirect speech, marked by the use of hints, hedges, and other politeness strategies, facilitates rapport and mitigates the tension between a client-centered relationship and a counselor-driven agenda; 2) direct speech, or speaking literally, is an effective strategy for providing information and education; and 3) confusion exists between the use of indirect speech and the intent to provide nondirective counseling, especially when facilitating client decision-making. Indirect responses to client questions, such as those that include the phrases "some people" or "most people," helped to maintain counselor neutrality; however, this well-intended indirectness, used to preserve client autonomy, may have obstructed direct explorations of client needs. We argue that the genetic counseling process requires increased flexibility in the use of direct and indirect speech and provide new insights into how "talk" affects the work of genetic counselors.

  3. Effects of second language usage on genetic counseling training and supervision. (United States)

    Vanneste, Rachel; Chiu, Sui Mei; Russell, Laura; Fitzpatrick, Jennifer


    We conducted an exploratory study of the experiences of genetic counselors who have either trained or supervised in a second language to assess the relevance of this issue to genetic counseling training and supervision. Two hundred-thirty NSGC members, CAGC members and genetic counseling students completed the online questionnaire. Many of the respondents reported that training and supervision differed when another language was involved. Supervisors reported difficulty in assessing students' counseling skills and discomfort with an incomplete understanding of session content. Students described a greater focus on vocabulary at the expense of psychosocial dimensions. Despite this, most felt that using another language enhanced their training experience. As such, training programs might consider increasing support to these learners and supervisors by explicitly acknowledging the challenges they face, providing students with language tools to aid in their acquisition of basic skills and providing supervisors with new methods for assessing student counseling skills when using other languages.

  4. Interaction of counseling rapport and topics discussed in sessions with methadone treatment clients. (United States)

    Joe, George W; Simpson, D Dwayne; Rowan-Szal, Grace A


    Therapeutic rapport between counselors and clients in drug user treatment has been shown to be an important predictor of follow-up outcomes. This naturalistic study investigated the relationship of counseling rapport to drug-related topics discussed in counseling sessions in a sample of 330 clients and nine counselors. These voluntary clients had been admitted to a private, for-profit outpatient methadone treatment in Texas between September 1995 and August 1997 and received no-fee services for a year for participation in this study. The data were gathered using forms in the TCU community treatment assessments ( that measured intake information, counseling session topics, and counselor evaluation of the client. A majority were males, Hispanic, had a pending legal status and the average age was 39. Co-occurring drug dependence for these heroin users included cocaine (38%) and alcohol (31%). The results supported the hypothesis that higher rapport would be associated with addressing clients in a more "supportive approach" that emphasized relapse prevention and strengths-building while lower rapport would be associated with a punitive counseling style that stressed program rules and compliance. The influences of client background, counselor differences, and during-treatment positive urines were also examined. Although counselors differed in their general manner of dealing with clients, each also showed flexibility determined in part by client behavior (such as continued cocaine use). The findings indicate that focusing on constructive solutions is the preferred counseling approach.

  5. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market. (United States)

    Harris, Anna; Kelly, Susan E; Wyatt, Sally


    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 companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.


    Padmalayam, Prajod; Balan, Preethi; Sapkal, Rashmi


    Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals. Here we report a rare case of Cockayne's syndrome in a girl who presented with hallmark features specific to the syndrome. Dissemination of our knowledge about clinical manifestations encountered in Cockayne syndrome is instrumental not only for early evaluation and treatment to prolong life expectancy, but also to initiate early genetic counselling with parents concerning future pregnancies.

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

    NARCIS (Netherlands)

    Suli, S.


    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.

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

    NARCIS (Netherlands)

    Suli, S.


    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. Makin

  9. Genetic Counseling-Stress, Coping, and the Empowerment Perspective. (United States)

    McConkie-Rosell, A; Sullivan, J A


    Historically one of the basic foundations of the genetic counseling process has been nondirectiveness; however, its definition and utility continues to be in question. There remains a need to develop genetic counseling interventions in order to qualify, quantify, measure, and enhance the genetic counseling process as well as to delineate the complex interactions of education and counseling that occur. We propose a framework for genetic counseling interventions utilizing an empowerment perspective and Lazarus and Folkman's adaptation of the theory of stress and coping. This model frames the genetic counseling process as one that promotes the autonomy of the individual by providing the individual with the tools required to make their own decisions and enhances coping and adjustment to the outcome of those decisions through control and mastery.


    Directory of Open Access Journals (Sweden)

    afdal afdal


    Full Text Available The practice of counseling by counselor not only need the skills to understand what is expressed by the client, but were further able to understand and have skills in giving meaning to the nonverbal communication, demonstrated by the behavior of a counseling session. During this time many of counselors who focus only on what is revealed by the client and using verbal techniques alone without seeing what goes on inside the client more deeply to understand the communication indicated by nonverbal behavior. The techniques used in the discussion of this article provides the inspiration that counseling is an art, not superficial, not skeptical and just focus on one technique alone, but many of the techniques that can be used to explore client issues. Furthermore, this paper supports the philosophical theory of Gestalt who believe that the client can feel the direct presence in the counseling sessions through the practices of the techniques used, to interpret the expression of various communications made, stationing themselves and find their own meaning.

  11. Genetic counseling services and development of training programs in Malaysia. (United States)

    Lee, Juliana Mei-Har; Thong, Meow-Keong


    Genetic counseling service is urgently required in developing countries. In Malaysia, the first medical genetic service was introduced in 1994 at one of the main teaching hospitals in Kuala Lumpur. Two decades later, the medical genetic services have improved with the availability of genetic counseling, genetic testing and diagnosis, for both paediatric conditions and adult-onset inherited conditions, at four main centers of medical genetic services in Malaysia. Prenatal diagnosis services and assisted reproductive technologies are available at tertiary centres and private medical facilities. Positive developments include governmental recognition of Clinical Genetics as a subspecialty, increased funding for genetics services, development of medical ethics guidelines, and establishment of support groups. However, the country lacked qualified genetic counselors. Proposals were presented to policy-makers to develop genetic counseling courses. Challenges encountered included limited resources and public awareness, ethical dilemmas such as religious and social issues and inadequate genetic health professionals especially genetic counselors.

  12. Genetic counseling and prenatal diagnosis: a multicultural perspective. (United States)

    Puñales-Morejon, D


    More and more women are using prenatal tests to obtain specific information on the health of the developing fetus. The objective of genetic counseling is not to decrease the occurrence of genetic disease, it is to help individuals and families adjust to their genetic risks and make their own decisions in line with their reproductive goals and world views. Choices made by parent(s) will reflect their own intrapsychic processes as well as their own cultural and social understanding of genetic risk and disease. As prenatal testing continues to diagnose an ever growing number of genetic disorders, genetic counseling faces greater and greater challenges. Now more than ever before, genetic counseling must incorporate both psychological counseling and multiculturalism in order to serve diverse individuals and families at risk for genetic disease.

  13. [The present role of genetic counseling]. (United States)

    Gilgenkrantz, S


    It is increasingly common for families to demand genetic advice to prevent the recurrence of birth malformations presently affecting over 3% of newborn children. This counseling should be objective information based on careful diverse genetic studies and, if necessary, a prenatal examination to determine if the fetus is damaged. In the case of a physical deformity, the most common problem, the research must discover if the cause was genetic or perhaps due to a disease at the embryonic stage. Miscarriages and stillbirths, which are often due to chromosome irregularities, may be prevented by studying the aborted material to determine the origin of death. Marriage partners who are related, who both suffer a congenital disease, whose 1st child suffers from a genetic disease, or whose families show a predisposition to serious diseases, such as mental illness or cancer, also seek such advice. To answer their questions, a research team must 1st undertake a careful clinical and biological study of the patient, including the genealogical tree and a study of the family members at home. Such a search can expose problems otherwise unobserved.

  14. A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective. (United States)

    Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M


    Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

  15. Linking Genetic Counseling Content to Short-Term Outcomes in Individuals at Elevated Breast Cancer Risk (United States)

    Ellington, Lee; Schoenberg, Nancy; Agarwal, Parul; Jackson, Thomas; Dickinson, Stephanie; Abraham, Jame; Paskett, Electra D.; Leventhal, Howard; Andrykowski, Michael


    Few studies have linked actual genetic counseling content to short-term outcomes. Using the Self-regulation Model, the impact of cognitive and affective content in genetic counseling on short-term outcomes was studied in individuals at elevated risk of familial breast-ovarian cancer. Surveys assessed dependent variables: distress, perceived risk, and 6 knowledge measures (Meaning of Positive Test; Meaning of Negative Test; Personal Behavior; Practitioner Knowledge; Mechanisms of Cancer Inheritance; Frequency of Inherited Cancer) measured at pre- and post-counseling. Proportion of participant cognitive and affective and counselor cognitive and affective content during sessions (using LIWC software) were predictors in regressions. Knowledge increased for 5 measures and decreased for Personal Behavior, Distress and Perceived Risk. Controlling for age and education, results were significant/marginally significant for three measures. More counselor content was associated with decreases in knowledge of Personal Behavior. More participant and less counselor affective content was associated with gains in Practitioner Knowledge. More counselor cognitive, and interaction of counselor cognitive and affective content, were associated with higher perceived risk. Genetic counselors dominate the content of counseling sessions. Therefore, their content is tied more closely to short term outcomes than participant content. A lack of patient communication in sessions may pose problems for understanding of complex concepts. PMID:24671341

  16. Effects of a short individually tailored counselling session for HIV prevention in gay and bisexual men receiving Hepatitis B vaccination

    NARCIS (Netherlands)

    M.E.G. Wolfers (Mireille); J.B.F. de Wit (John); H.J. Hospers (Harm Jan); J.H. Richardus (Jan Hendrik); O. de Zwart (Onno)


    textabstractBackground. There is currently a trend towards unsafe unprotected anal intercourse (UAI) among men who have sex with men. We evaluated a short individual counselling session on reducing UAI among gay and bisexual men. Methods. A quasi-experimental design was used to evaluate the counsell

  17. Single Session Web-Based Counselling: A Thematic Analysis of Content from the Perspective of the Client (United States)

    Rodda, S. N.; Lubman, D. I.; Cheetham, A.; Dowling, N. A.; Jackson, A. C.


    Despite the exponential growth of non-appointment-based web counselling, there is limited information on what happens in a single session intervention. This exploratory study, involving a thematic analysis of 85 counselling transcripts of people seeking help for problem gambling, aimed to describe the presentation and content of online…

  18. An Invitation to between-Session Change: The Use of Therapeutic Letters in Couples and Family Counseling (United States)

    Kindsvatter, Aaron; Nelson, Jill R.; Desmond, Kimberly J.


    Therapeutic letters (i.e., brief therapeutic messages that are sent to clients between counseling sessions) have been used since the days of Freud and have been shown to have beneficial therapeutic impacts. This article describes the use of therapeutic letters in couples and family counseling. The use of three types of therapeutic letter (letters…

  19. An Invitation to between-Session Change: The Use of Therapeutic Letters in Couples and Family Counseling (United States)

    Kindsvatter, Aaron; Nelson, Jill R.; Desmond, Kimberly J.


    Therapeutic letters (i.e., brief therapeutic messages that are sent to clients between counseling sessions) have been used since the days of Freud and have been shown to have beneficial therapeutic impacts. This article describes the use of therapeutic letters in couples and family counseling. The use of three types of therapeutic letter (letters…

  20. Change Strategies and Associated Implementation Challenges: An Analysis of Online Counselling Sessions. (United States)

    Rodda, Simone N; Hing, Nerilee; Hodgins, David C; Cheetham, Alison; Dickins, Marissa; Lubman, Dan I


    Self-change is the most frequent way people limit or reduce gambling involvement and often the first choice of people experiencing gambling-related problems. Less well known is the range of change strategies gamblers use and how these are selected, initiated or maintained. This study examined change strategies discussed in counselling transcripts from 149 clients who accessed a national online gambling help service in Australia. Using thematic analysis, we identified the presence of six change strategies; cash control and financial management, social support, avoiding or limiting gambling, alternative activities, changing thoughts and beliefs, and self-assessment and monitoring. Four implementation issues were also identified; a mismatch between need and strategy selection or maintenance; importance and readiness versus the cost of implementation; poor or unplanned transitions between strategies; and failure to review the helpfulness of strategies resulting in premature abandonment or unhelpful prolonged application. This study is the first to identify change strategies discussed in online counselling sessions. This study suggests change strategies are frequently discussed in online counselling sessions and we identified multiple new actions associated with change strategies that had not previously been identified. However, multiple implementation issues were identified and further work is required to determine the helpfulness of change strategies in terms of their selection, initiation and maintenance.

  1. Genetic counseling and testing for Huntington's disease: A historical review. (United States)

    Nance, Martha A


    This manuscript describes the ways in which genetic counseling has evolved since John Pearson and Sheldon Reed first promoted "a genetic education" in the 1950s as a voluntary, non-directive clinical tool for permitting individual decision making. It reviews how the emergence of Huntington's disease (HD) registries and patient support organizations, genetic testing, and the discovery of a disease-causing CAG repeat expansion changed the contours of genetic counseling for families with HD. It also reviews the guidelines, outcomes, ethical and laboratory challenges, and uptake of predictive, prenatal, and preimplantation testing, and it casts a vision for how clinicians can better make use of genetic counseling to reach a broader pool of families that may be affected by HD and to ensure that genetic counseling is associated with the best levels of care. © 2016 Wiley Periodicals, Inc.

  2. Genetic counseling of the cancer survivor

    Energy Technology Data Exchange (ETDEWEB)

    Mulvihill, J.J.; Byrne, J.


    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.

  3. Breast Cancer in Men: Treatments and Genetic Counseling (United States)

    ... 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 ...

  4. Rett syndrome molecular diagnosis and implications in genetic counseling

    Directory of Open Access Journals (Sweden)

    Noruzinia M


    Full Text Available Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However clinical diagnosis can be very difficult when the expression is not in the classical form. Mutations in MeCP2 are responsible for 80% of cases. When MeCP2 mutation is found in an index case, genetic counseling is similar to that in other X-linked dominant genetic diseases. However, mutations in this gene can cause a spectrum of atypical forms. On the other hand, other genetic conditions like translocations, sex chromosome numerical anomalies, and mutations in other genes can complicate genetic counseling in this syndrome. We present the first case of molecular diagnosis of Rett syndrome in Iran and discuss the recent developments in its genetic counseling.

  5. Helping Couples Fulfill the "Highest of Life's Goals": Mate Selection, Marriage Counselling, and Genetic Counseling in United States. (United States)

    Stillwell, Devon


    This article traces the history of modern genetic counseling to mate selection and marriage counselling practices of the early-20th century. Mate selection revolved around a belief that human heredity could be improved and genetic diseases eradicated through better breeding. Marriage counselling, though interested in reproduction, was also concerned with the emotional and psychological well-being of couples. These two practices coalesced most obviously in the work of well-known geneticist Sheldon Reed. Even as marriage and genetic counselling diverged in the post-WWII period, vestiges of these practices remain in contemporary counseling experiences with family planning and genetic screening programs. Emphasizing points of continuity between "positive" eugenic ideologies and modern genetic practices elaborates the diverse origins of genetic counseling. It also exposes how genetic counselors have become involved in genetic enterprises beyond standard clinical settings, and prods at key issues in the interaction between genetic science and social values.

  6. Aconselhamento genético Genetic counseling

    Directory of Open Access Journals (Sweden)

    João Monteiro de Pina-Neto


    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

  7. Utilizing high-fidelity crucial conversation simulation in genetic counseling training. (United States)

    Holt, R Lynn; Tofil, Nancy M; Hurst, Christina; Youngblood, Amber Q; Peterson, Dawn Taylor; Zinkan, J Lynn; White, Marjorie Lee; Clemons, Jason L; Robin, Nathaniel H


    Genetics professionals are often required to deliver difficult news to patients and families. This is a challenging task, but one that many genetics trainees have limited opportunity to master during training. This is true for several reasons, including relative scarcity of these events and an understandable hesitation of supervisors allowing a trainee to provide such high stakes information. Medical simulation is effective in other health care disciplines giving trainees opportunities of "hands on" education in similar high stakes situations. We hypothesized that crucial conversations simulation would be effective for genetics trainees to gain experience in communication and counseling skills in a realistic clinical scenario. To test this hypothesis, we designed a prenatal counseling scenario requiring disclosure of an abnormal amniocentesis result and discussion of pregnancy management options; we challenged participants to address common counseling questions. Three medical genetics resident physicians and five genetic counseling students participated. Genetics and simulation experts observed the session via live video feed from a different room. A behavioral checklist was completed in real time assessing trainee's performance and documenting medical information discussed. Debriefing immediately followed the session and included simulation and genetics experts and the actor parents. Participants completed open-ended post evaluations. There was a trend towards participants being more likely to discuss issues the child could have while an infant/toddler rather than issues that could emerge as the child with Down Syndrome transitions to adulthood and end of life (P=.069). All participants found the simulation helpful, notably that it was more realistic than role-playing with colleagues.

  8. The Long and Short of Genetic Counseling Summary Letters: A Case-control Study. (United States)

    Roggenbuck, J; Temme, R; Pond, D; Baker, J; Jarvis, K; Liu, M; Dugan, S; Mendelsohn, N J


    Genetic counseling summary letters are intended to reinforce information received during genetic counseling, but little information is available on patient/family responses to these letters. We conducted a case-control study to assess the effectiveness of two different letter formats. Parents of children receiving a new diagnosis were enrolled. The control group (n = 85) received a genetic counseling summary letter in a narrative format, 4-5 pages in length. After the control enrollment period, genetic counselors were trained by a professional medical writer to develop a concise letter format. The case group (n = 64) received a concise letter, approximately 1.5 pages in length, utilizing simple sentences, lay terms, and lists/bullet points. Parents completed a survey 4 weeks after the visit to rate the letter's format, usefulness, and their emotional reaction. Results show that parents in the case group rated the letter more highly (p = 0.023), particularly in the emotional response dimension (rating changes in anxiety, depression, fear, ability to cope, and confidence in response to the letter). Parents in the case group also rated the genetic counseling session more highly (p = 0.039). In the control group, parents without a college degree were more likely to rate the letter as too long and the level of medical detail as too high. In the case group, no significant differences were seen between parents with or without a college degree. These data suggest that a short genetic counseling summary letter is rated higher by parents, and is particularly associated with a more positive emotional reaction. A short letter format highlighting the basic facts related to the genetic condition may be more useful to parents of diverse educational backgrounds, and may support a positive emotional adaptation at the time of a new diagnosis. Genetic counselors may benefit from specific instruction in medical and educational writing.

  9. Effects of a genetic counseling model on mothers of children with down syndrome: a Brazilian pilot study. (United States)

    Micheletto, Marcos Ricardo Datti; Valerio, Nelson Iguimar; Fett-Conte, Agnes Cristina


    Down syndrome occurs in approximately 1:600 live births. Genetic counseling is indicated for these families and may be beneficial for adaptation to the challenges that accompany by this diagnosis. Although the basic counseling goals are similar, there are many models of genetic counseling practiced around the world. The aim of this article is to report the results of a pilot study that evaluated the level of satisfaction with a model of service delivery of genetic counseling practiced in Brazil, the knowledge assimilated about Down syndrome and whether this process resulted in a feeling of well-being and psychological support. Thirty mothers of under 6-month-old children with Down syndrome were interviewed after having two sessions of genetic counseling in a public healthcare service within a period of 30 days. A semi-structured questionnaire was developed by the researchers to collect identification, socioeconomic and demographic data and to assess the client's satisfaction with the model of genetic counseling. Data were collected using both open and closed questions. The reported level of satisfaction was high. The knowledge assimilated about Down syndrome after only two sessions was considered technically vague by raters in 44 % of cases. Most mothers (96.7 %) reported that genetic counseling was beneficial and provided psychological support. The model was considered satisfactory, but further research is needed to identify ways to improve knowledge retention by this population. These results highlight the utility of referring families for genetic counseling when there is a suspicion of a diagnosis of Down syndrome.

  10. Counseling adolescents and the challenges for genetic counselors. (United States)

    Callard, Alice; Williams, Jessica; Skirton, Heather


    Genetic counselors may have an important role in helping the adolescent make an informed decision with regard to genetic testing and in helping them to adjust to genetic risk information. However, counseling techniques that are used with adults may not be always be suited to the adolescent population. Adolescence is a time of development during which separation from the family and formation of identity is achieved. The process of this development may impact the genetic counseling relationship. Family relationships may have a strong influence on the client's decision to have genetic testing. Additionally, it may be difficult to engage the client as adolescents may not have the ability to think abstractly and consider the short and long term consequences of genetic testing. It is helpful therefore to discuss the counseling process and techniques that may be useful when counseling these clients. This paper presents two case studies that illustrate some of the difficulties that may occur when counseling adolescents for genetic testing. The authors' have reflected on their clinical experience with these clients and this is presented here to add to the growing literature on this subject.

  11. Genetic counselling for hereditary cancer providing counsellors with feedback on their communicative behaviour.

    NARCIS (Netherlands)

    Pieterse, A.; Dulmen, S. van; Ausems, M.; Beemer, F.; Bensing, J.


    Background: The uncovering of cancer susceptibility genes has allowed personalized risk assessment through genetic counselling and genetic testing. Testing, however, has a number of limitations and genetic counselling may not provide counselees with the certainty they expected. A correct estimation

  12. 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.


    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 i

  13. The utilization of counseling skills by the laboratory genetic counselor. (United States)

    Goodenberger, McKinsey L; Thomas, Brittany C; Wain, Karen E


    The number of available genetic testing options and the nuances associated with these options continue to expand. In addition, the scope of genetic testing has broadened to areas and specialties beyond Medical Genetics. In response to these changes, diagnostic laboratories have employed genetic counselors to help navigate the increasing complexity of genetic testing, given their expertise and training in human genetics. However a largely unrecognized aspect of this role involves the use of counseling skills. Counseling skills are used by laboratory genetic counselors in a variety of situations to convey information and facilitate understanding among clinicians and medical staff. This helps to reduce test ordering errors, promote optimal test utilization, and ensure best patient care practices. The specific counseling skills used by laboratory counselors will be explored using three fictional case vignettes, followed by a discussion of the applicability of these skills in other contexts. Exploration of the unique ways in which laboratory genetic counselors apply their counseling skills can be useful for professional development and instructive for graduate training programs.

  14. Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen


    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.

  15. Practice-based competencies for accreditation of and training in graduate programs in genetic counseling. (United States)

    Fine, B A; Baker, D L; Fiddler, M B


    In January 1996, the American Board of Genetic Counseling (ABGC) adopted 27 practice-based competencies as a standard for assessing the training of graduate students in genetic counseling. These competencies were identified and refined through a collective, narrative process that took place from January through November 1994, and included directors of graduate programs in genetic counseling, ABGC board members and expert consultants. These competencies now form the basis of the document "Requirements for Graduate Programs in Genetic Counseling Seeking Accreditation by the American Board of Genetic Counseling" (American Board of Genetic Counseling, 1996). The competencies are organized into four domains and are presented and discussed in this article.

  16. Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach. (United States)

    De Vos, M; Poppe, B; Delvaux, I; Mortier, G; Claes, K; Messiaen, L; De Paepe, A


    The counselling experience with 50 Flemish families in whom mutation analysis of the total coding region of the BRCA1 and BRCA2 gene has been initiated, is presented. Genetic testing for breast-ovarian cancer susceptibility is offered by a multidisciplinary team. During the counselling sessions, special attention is given to comprehensible and emotionally acceptable communication of genetic information and to the psychosocial evaluation of the counselee. The limitations of molecular testing and the controversy surrounding cancer prevention strategies are also discussed. The overall acceptance of mutation testing is high. Some of the problems encountered are inaccuracy of the reported family history, poor retrieval of the medical records of affected family members and the reluctance of many patients to inform their relatives about the possibility of being tested.

  17. Effects of a short individually tailored counselling session for HIV prevention in gay and bisexual men receiving Hepatitis B vaccination

    NARCIS (Netherlands)

    M.E.G. Wolfers (Mireille); J.B.F. de Wit (John); H.J. Hospers (Harm Jan); J.H. Richardus (Jan Hendrik); O. de Zwart (Onno)


    textabstractBackground. There is currently a trend towards unsafe unprotected anal intercourse (UAI) among men who have sex with men. We evaluated a short individual counselling session on reducing UAI among gay and bisexual men. Methods. A quasi-experimental design was used to evaluate the

  18. Impact of Genetic Counseling and Testing on Altruistic Motivations to Test for BRCA1/2: a Longitudinal Study. (United States)

    Garg, Rahul; Vogelgesang, Joseph; Kelly, Kimberly


    Despite the importance of altruism in an individual's participation in genetic counseling and testing, little research has explored the change in altruistic motivations to test over time. This study analyzed altruistic motivations to test and change in altruistic motivations after genetic counseling and testing among individuals (N = 120) at elevated risk for BRCA1/2 mutations. The perceived benefits of genetic testing were assessed and utilized in a mixed-methods, repeated measures design at three time points: pre-counseling, counseling and post-genetic testing, along with transcripts of genetic counseling sessions. Qualitative analysis using an immersion/crystallization method resulted in six common perceived benefits of testing: cancer prevention, awareness, family's survival, relief from anxiety, for science, and future planning. Perceived benefits were then coded into three categories according to Hamilton's kin selection theory: altruistic motivation, personal motivation, and motivation for mutual benefit. At pre-counseling, those with a personal cancer history (p = 0.003) and those with one or more children (p = 0.013), were significantly more likely to cite altruistic motivations to test. Altruistic motivations significantly increased post-counseling (p = 0.01) but declined post-testing (p motivations. The possibility of a positive test result might have led those with personal history of cancer to have altruistic motivations for testing. Genetic counseling may have increased altruistic motivations to help family and may be a prime opportunity to discuss other forms of altruism.

  19. Current genetic counseling in China%中国目前的遗传咨询

    Institute of Scientific and Technical Information of China (English)

    章远志; Nanbert ZHONG


    @@ In 1975, the American Society of Human Genetics adopted the following definition of genetic counseling: genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. This definition indicates that genetic counseling is the delivery of information about genetic diseases, including genetic risks, natural history of the disease, and clinical management of the disease, to patients and their families. Although genetic counseling is not a new word for both western countries and China, the development of which is quite different. Many excellent genetic counseling programs have been developed since then in developed countries, whereas there is no formal one in China. In the United States, professionals who carry out genetic counseling must have taken a professional training and have had the certificate of American Board of Genetic Counseling (ABGC) ( The ABGC prepares and administers examinations to certify individuals who provide services in the medical genetics specialty of genetic counseling, and accredits training programs in the field of genetic counseling. There are more than two dozen master degree programs of genetic counseling accredited by the ABGC with either full, interim, or recognized new programs ( There are twenty-one full credential programs in the United States, three in Australia, three in Canada and two in United Kingdom ( Looking through all over the China, there is no any official genetic counseling program, so neither any professional genetic counselor. Genetic counseling in China now is not offered by professionally trained genetic counselors, but clinicians such as pediatricians or obstetricians[1]. These clinicians who performing genetic counseling in China have not been trained professionally on genetic counseling. Further more, there is no any board to certificate counselors.

  20. Does and should breast cancer genetic counselling include lifestyle advice?

    NARCIS (Netherlands)

    Albada, A.; Vernooij, M.; Osch, L. van; Pijpe, A.; Dulmen, S. van; Ausems, M.G.E.M.


    To optimally inform counselees about their and their relatives' risks, information about lifestyle risk factors, e.g. physical activity and alcohol consumption, might be discussed in breast cancer genetic counselling. This study explored whether lifestyle was discussed, on whose initiative, whether

  1. Genetic counseling in carriers of reciprocal translocations involving two autosomes

    Directory of Open Access Journals (Sweden)

    Bahareh Pourjafari


    Couples in which one partner is the carrier of such balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Genetic counseling of such couples, therefore, presents a unique challenge and should be considered in dealing with such families.

  2. Nonverbal Sensitivity: Consequences for Learning and Satisfaction in Genetic Counseling (United States)

    Roter, D. L.; Erby, L. H.; Hall, J. A.; Larson, S.; Ellington, L.; Dudley, W.


    Purpose: This study aims to explore the role of interactants' nonverbal sensitivity, anxiety and sociodemographic characteristics in learning and satisfaction within the genetic counseling context. Design/methodology/approach: This is a combined simulation and analogue study. Simulations were videotaped with 152 prenatal and cancer genetic…

  3. The Role of Genetic Counseling in the Prevention of Blindness. (United States)

    Pagon, Roberta A.


    Detection and counseling of individuals with genetic eye disorders may reduce morbidity by preventing unnecessary visual loss, by reducing misunderstanding, apprehension, and fear; by facilitating early diagnosis of other medical disorders; and by referring patients for appropriate educational and vocational training. (Author/SBH)

  4. Effects of a short individually tailored counselling session for HIV prevention in gay and bisexual men receiving Hepatitis B vaccination

    Directory of Open Access Journals (Sweden)

    Hospers Harm J


    Full Text Available Abstract Background There is currently a trend towards unsafe unprotected anal intercourse (UAI among men who have sex with men. We evaluated a short individual counselling session on reducing UAI among gay and bisexual men. Methods A quasi-experimental design was used to evaluate the counselling session. This session was conducted during consulting hours at four municipal health clinics during a Hepatitis B vaccination campaign. These clinics offered free vaccination to high-risk groups, such as gay and bisexual men. All gay and bisexual men attending health clinics in four cities in the Netherlands were asked to participate. Each participant in the intervention group received a fifteen-minute individual counselling based on the Theory of Planned Behaviour and Motivational Interviewing. Changes in UAI were measured over a 5-months period, using self-administered questionnaires. UAI was measured separately for receptive and insertive intercourse in steady and casual partners. These measures were combined in an index-score (range 0–8. Results While UAI in the counselling group remained stable, it increased in the controls by 66% from 0.41 to 0.68. The results show that the intervention had a protective effect on sexual behaviour with steady partners. Intervention effects were strongest within steady relationships, especially for men whose steady-relationship status changed during the study. The intervention was well accepted among the target group. Conclusion The fifteen-minute individually tailored counselling session was not only well accepted but also had a protective effect on risk behaviour after a follow-up of six months.

  5. An overview of genetic counseling in Cuba. (United States)

    Cruz, Araceli Lantigua


    This brief report provides an overview of the history and current status of genetic services in Cuba. In 1971, the University of Medical Sciences of Havana began to train doctors in medical genetics according to the medicine development plan in Cuba. With the aim of introducing genetic services to the population, two main issues were identified: the impact of neural tube defects as a cause of infantile mortality, and a founder effect resulting in a high frequency of sickle cell anemia, which increased the mortality rate and impacted the quality of peoples' lives. The impact of consanguinity is variable; it depends on the isolation of the population, with rates of 1 to 11% in different regions for first and second cousin marriages. From 1981, the services of medical genetics began to expand to the entire country, according to a government directive, and the need to design a program for the specialty became evident. From 1995 to 2000, two Masters-level programs were designed by professors of the Department of Medical Genetics, University of Medical Sciences of Havana, and authorized by the Ministry of Higher Education. One program in medical genetics was designed for physicians with other specialties, and the second program was designed to train professionals to become genetic counselors. The majority of graduates from the latter program are working at the primary level of healthcare.

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

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.


    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

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

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.


    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 c

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

    NARCIS (Netherlands)

    Harris, A.; Kelly, S.; Wyatt, S.


    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 c

  9. Family matters: examining a multi-family group intervention for women with BRCA mutations in the scope of genetic counselling. (United States)

    Mendes, Alvaro; Chiquelho, Raquel; Santos, Teresa Almeida; Sousa, Liliana


    The availability of family-centred services for women genetically at-risk for breast and ovarian cancer (BRCA) due to deleterious genetic mutations is still scarce, despite the distress that these women and their families may experience. This study describes a multi-family group intervention for women who tested positive for BRCA mutations and their families. Methods include a time-limited psycho-educational programme involving educational and support components and consisting of four semi-structured multi-family sessions. Three families (a total of nine people) attended the programme in genetic counselling for hereditary cancers at a Portuguese public hospital. A focus group interview was performed 1 month after the last session to assess both the practical and the psychosocial impacts and to collect suggestions from participants. The present paper focuses on the practical aspects of the intervention, its development and its evaluation. Participants reported that the programme is well-structured and that responds to the needs of patients and their families by improving coping skills and medical awareness in the adaptation to genetic illness. Results reinforce the need to integrate psychosocial and family-oriented interventions in genetic counselling, addressing the holistic experience of hereditary disease. Recommendations for enhancing the services available are provided. The multi-family discussion group, combining educative and supportive services with a family focus, can be successfully adapted in genetic counselling protocols.

  10. A decade of genetic counseling in frontotemporal dementia affected families: few counseling requests and much familial opposition to testing. (United States)

    Riedijk, S R; Niermeijer, M F N; Dooijes, D; Tibben, A


    A decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second, FTD at-risk counselees reported substantial familial opposition to genetic testing, which is distinct from the attitude in Huntington Disease affected families. We hypothesize that the low acceptance for FTD genetic counseling is consequential to the familial opposition and explain this within the theoretical framework of separation-individuation. Furthermore, we hypothesize that separation-individuation problems do not similarly influence the acceptance of HD genetic counseling, due to the educative role of the well-organised patient organization for HD in the Netherlands. We offer counseling recommendations that serve to facilitate the individuation of the counselee with respect to the FTD genetic test.

  11. The effect of genetic counseling for adult offspring of patients with type 2 diabetes on attitudes toward diabetes and its heredity: a randomized controlled trial. (United States)

    Nishigaki, M; Tokunaga-Nakawatase, Y; Nishida, J; Kazuma, K


    The aim of this study is to investigate the effect of diabetes genetic counseling on attitudes toward diabetes and its heredity in relatives of type 2 diabetes patients. This study was an unmasked, randomized controlled trial at a medical check-up center in Japan. Subjects in this study are healthy adults between 30 and 60 years of age who have a family history of type 2 diabetes in their first degree relatives. Participants in the intervention group received a brief genetic counseling session for approximately 10 min. Genetic counseling was structured based on the Health Belief Model. Both intervention and control groups received a booklet for general diabetes prevention. Risk perception and recognition of diabetes, and attitude towards its prevention were measured at baseline, 1 week and 1 year after genetic counseling. Participants who received genetic counseling showed significantly higher recognition about their sense of control over diabetes onset than control group both at 1 week and 1 year after the session. On the other hand, anxiety about diabetes did not change significantly. The findings show that genetic counseling for diabetes at a medical check center helped adults with diabetes family history understand they are able to exert control over the onset of their disease through lifestyle modification.

  12. Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma. (United States)

    Faiq, Muneeb; Mohanty, Kuldeep; Dada, Rima; Dada, Tanuj


    Primary congenital glaucoma (PCG) is a childhood irreversible blinding disorder with onset at birth or in the first year of life. It is characterized by the classical traid of symptoms viz. epiphora (excessive tearing), photophobia (hypersensitivity to light) and blepharospasm (inflammation of eyelids). The only anatomical defect seen in PCG is trabecular meshwork dysgenesis. PCG shows autosomal recessive mode of inheritance with considerable number of sporadic cases. The etiology of this disease has not been fully understood but some genes like CYP1B1, MYOC, FOXC1, LTBP2 have been implicated. Various chromosomal aberrations and mutations in mitochondrial genome have also been reported. Molecular biology has developed novel techniques in order to do genetic and biochemical characterization of many genetic disorders including PCG. Techniques like polymerase chain reaction, single strand conformational polymorphism and sequencing are already in use for diagnosis of PCG and other techniques like protein truncation testing and functional genomics are beginning to find their way into molecular workout of this disorder. In the light of its genetic etiology, it is important to develop methods for genetic counseling for the patients and their families so as to bring down its incidence. In this review, we ought to develop a genetic insight into PCG with possible use of molecular biology and functional genomics in understanding the disease etiology, pathogenesis, pathology and mechanism of inheritance. We will also discuss the possibilities and use of genetic counseling in this disease. How to cite this article: Faiq M, Mohanty K, Dada R, Dada T. Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma. J Current Glau Prac 2013;7(1):25-35.

  13. The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics. (United States)

    Björkman, Maria


    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.

  14. Lessons from Freelancing, Lighting Design to Genetic Counseling. (United States)

    Disco, Michele


    Theatrical lighting design and genetic counseling may seem like antipodal career choices. The former was chosen from a belief in the dynamism of the theatrical experience, as well as love of the actual work. As I grew older, the powerful personal experiences of a life encompassing miscarriages, the birth of a child with a genetic disorder, and breast cancer profoundly directed my choice of a new career; one that I also love. Clearly, the day-to-day work is very different. However, people in both professions strive to create a transformative space for their respective public. Rather than being left behind, lessons learned by working as a freelancer have served as a source of inspiration as I have matured into my new career. Three specific strategies, supported by literature on career models, have been paramount. First, keeping an eye on the big picture encourages awareness of where the field of genetics and the genetic counseling job market are headed. That awareness leads to the advocacy necessary to achieve the outcomes genetic counselors want. Second, striving for continual personal growth keeps genetic counselors engaged and personally ready for professional changes. Third, networking provides the connections to make clinical and advocacy efforts successful, in addition to essential social support.

  15. 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 blan

  16. Genetic diagnostics and genetic counselling in Hypertrophic Cardiomyopathy (HCM). (United States)


    DUTCH PROFESSIONAL GROUPS INVOLVED IN DRAWING UP THIS GUIDELINE: cardiologists, paediatric cardiologists, clinical geneticists, clinical molecular geneticists, genetic counsellors, psychosocial workers, associated with or cooperating with the university hospitals' outpatient clinics for cardiogenetics.Approved by the NVVC, VKGN and NVK (paediatric cardiology section).NVVC - Nederlandse Vereniging voor Cardiologie - Dutch Society for Cardiology; VKGN - Vereniging Klinische Genetica Nederland - the Netherlands Society for Clinical Genetics; NVK - Nederlandse Vereniging Kindergeneeskunde - Dutch Society for Paediatrics.First published in Dutch in June 2009.

  17. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

    National Research Council Canada - National Science Library

    Christiaans, Imke; Birnie, Erwin; Bonsel, Gouke J; Wilde, Arthur A.M; van Langen, Irene M


    .... In 97 hypertrophic cardiomyopathy families with a sarcomere gene mutation we retrospectively determined uptake of genetic counselling and predictive DNA testing in relatives within 1 year after...

  18. Non-directive genetic counselling - respect for autonomy or unprofessional practice? (United States)

    Chieng, Wei Shieng; Chan, Noreen; Lee, Soo Chin


    Historically, genetic counselling was developed in the West and in the field of neonatal medicine, and a non-directive approach has been its central ethos since the 1950s to 60s. In today's changing world, the question of whether non-directive genetic counselling with its emphasis on patient autonomy may in some occasions be perceived as unprofessional practice. Through these 4 case studies in cancer genetic counselling, we seek to highlight the conundrums, dilemmas and various other considerations of patients and their families faced during the genetic counselling process. We also address the pitfalls of a 'one-size fi ts all' approach of non-directive counselling and how we could best practice cancer genetic counselling in the Singapore context, taking into consideration respect for patient autonomy and healthcare professionalism.

  19. Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: a thematic analysis of three review articles. (United States)

    Paneque, Milena; Sequeiros, Jorge; Skirton, Heather


    Presymptomatic testing (PST) is available for a range of late-onset disorders. Health practitioners generally follow guidelines regarding appropriate number of counseling sessions, involvement of multidisciplinary teams, topics for pretest discussion, and follow-up sessions; however, more understanding is needed about what helps consultands effectively and the impact of amount and quality of genetic counseling on the psychosocial sequelae of PST for late-onset disorders. We conducted a thematic analysis of three review articles on quality of the genetic counseling process, aiming at (1) exploring current evidence; (2) identifying quality assessment indicators; and (3) making recommendations for genetic counseling practice in late-onset disorders. We undertook a systematic search of 6 relevant databases: 38 articles were identified and 3 fitted our inclusion criteria; after quality appraisal, all were included in the review. The number of sessions, time spent, consultation environment, follow-up, and multidisciplinarity were identified as variables for quality assessment. Research on counseling in the context of genetic testing in familial cancer tends to be related to outcomes and indicators for quality assessment, while research concerning other late-onset diseases is mainly focused on the psychological impact of the test results. The quality and content of the overall process in noncancer late-onset diseases is insufficiently articulated. Despite the fact that PST for Huntington disease and other degenerative conditions has been offered for more than 20 years, good methodological approaches to assess quality of genetic counseling in that context remain elusive. This restricts improvement of the protocols for genetic services and, in general, healthcare for the at-risk population.

  20. Effects of Counselor Disability and Reputation on Client Perceptions during a Career Counseling Session. (United States)

    Miller, Mark J.


    Examined effects of counselor expertness, trustworthiness, and attractiveness on participants' (n=166) impressions of counselor during counseling analogue situation. Using 2 (counselor disability) x 2 (level of training) factorial design, no significant differences were found with respect to counselor social influence. Neither physical disability…

  1. Predictors of the Change in Self-Stigma Following a Single Session of Group Counseling (United States)

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


    One of the major obstacles to seeking psychological help is the stigma associated with counseling and therapy. Self-stigma, the fear of losing self-respect or self-esteem as a result of seeking help, is an important factor in the help-seeking process. In the present study, college students meeting a clinical cutoff for psychological symptoms…

  2. Genetic information, non-discrimination, and privacy protections in genetic counseling practice. (United States)

    Prince, Anya E R; Roche, Myra I


    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.

  3. A decade of genetic counseling in frontotemporal dementia affected families: Few counseling requests and much familial opposition to testing

    NARCIS (Netherlands)

    S.R. Riedijk (Samantha); M.F. Niermeijer (Martinus); D. Dooijes (Dennis); A. Tibben (Arend)


    textabstractA decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second, FT

  4. A decade of genetic counseling in frontotemporal dementia affected families: Few counseling requests and much familial opposition to testing

    NARCIS (Netherlands)

    S.R. Riedijk (Samantha); M.F. Niermeijer (Martinus); D. Dooijes (Dennis); A. Tibben (Arend)


    textabstractA decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second,

  5. Autism spectrum disorders: an updated guide for genetic counseling. (United States)

    Griesi-Oliveira, Karina; Sertié, Andréa Laurato


    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

  6. Neuromuscular disorders: genes, genetic counseling and therapeutic trials

    Directory of Open Access Journals (Sweden)

    Mayana Zatz

    Full Text Available Abstract Neuromuscular disorders (NMD are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.

  7. A Decade of Genetic Counseling in Frontotemporal Dementia Affected Families: Few Counseling Requests and much Familial Opposition to Testing


    Riedijk, S. R.; Niermeijer, M. F. N.; Dooijes, D.; Tibben, A.


    A decade of genetic counseling of frontotemporal dementia (FTD) affected families has generated two important observations. First, the uptake rate for presymptomatic testing for FTD is low in our department of Clinical Genetics at the Erasmus Medical Center in the Netherlands. Second, FTD at-risk counselees reported substantial familial opposition to genetic testing, which is distinct from the attitude in Huntington Disease affected families. We hypothesize that the low acceptance for FTD gen...

  8. Improving mental health in families with autistic children: benefits of using video feedback in parent counselling sessions offered alongside music therapy

    Directory of Open Access Journals (Sweden)

    Laura K. Blauth


    Full Text Available Background This paper explores benefits of parent counselling offered alongside music therapy with children with autism spectrum disorders (ASD. Research studies have shown that the stress levels of primary caregivers of children with ASD are not only higher than in the general population but also higher than in parents of children with other developmental disabilities. It is therefore recommended that music therapists working with children with ASD also engage and support their parents. Participants and procedure In the international randomised controlled trial TIME-A, which investigates the effects of music therapy on the social communicative skills of autistic children, participating families are offered three parent counselling sessions. For this paper, 68 counselling sessions with 25 families were evaluated; 14 sessions were transcribed and subjected to a content analysis. Case examples illustrate the impact of concomitant parent counselling sessions on the families. Results The analysis generated emerging themes that were grouped into two categories: 1 Non-music therapy specific themes, and 2 Music therapy specific themes. The first category comprised four sub-groups: Exchange of information, Experiences with professionals/friends/society, Worries about the future, Personal/matrimonial problems. Music therapy specific themes were subdivided into the following groups: Working in a partnership, Empowering parents, Celebrating strengths, Rejoicing in child’s enjoyment. Challenges caused by the dual roles of music therapist and parent counsellor were outweighed by the benefits. In addition to the therapeutic effect of counselling, video material from the music therapy sessions helped carers to see their children’s strengths, to gain new ideas, and to develop a more positive outlook. Conclusions The findings support the provision of parent counselling sessions alongside music therapy for children with ASD. This study highlights that

  9. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases. (United States)

    Burson, C M; Markey, K R


    Genetic counseling is important in any genetic testing situation in order to address the various issues related to obtaining a genetic diagnosis. Presymptomatic testing for adult-onset neurodegenerative disease, in particular, presents a complex counseling scenario. It is imperative to discuss the potential impact of test results on patients' family dynamics, insurability and employability, family planning, and future health in addition to ascertaining a complete understanding of recurrence, inheritance, and testing parameters. The Huntington disease presymptomatic testing protocol is well-defined and has been used for more than 10 years. These guidelines, which protect both patient and provider, can now be applied to other diseases as further presymptomatic testing capabilities are realized.

  10. A genetic counseling intervention to facilitate family communication about inherited conditions. (United States)

    Gaff, Clara; Hodgson, Jan


    This paper describes the development and implementation of the first intervention to facilitate family communication of genetic information based on a genetic counseling model of practice. The intervention is telephone-based and therefore designed to complement face-to-face genetic counseling consultations. It was developed by firstly reviewing the literature and a model of genetic counseling practice, leading to definition of seven core principles underpinning the intervention. A counseling framework based on these principles was developed through iterative role playing and review, tested for consistency with good practice and piloted on ten study participants. It was found to be feasible to implement and consistent with good genetic counseling practice. Implementation included training of the genetic counselors who would deliver the intervention as part of a randomized controlled trial. Noteworthy deviations from good genetic counseling practice were observed, with unexpected additional insights into the 'black box' of genetic counseling that may have wider implications and would benefit from further investigation. The intervention is currently being evaluated in a randomized controlled trial, to assess its impact on the number of family members attending genetic services.

  11. Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era

    Directory of Open Access Journals (Sweden)

    Costain G


    Full Text Available Gregory Costain1,2, Anne S Bassett1–41Clinical Genetics Research Program, Centre for Addiction and Mental Health, 2Institute of Medical Science, University of Toronto, 3Division of Cardiology, Department of Medicine and Department of Psychiatry, University Health Network, 4Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaAbstract: Schizophrenia is a complex neuropsychiatric disease with documented clinical and genetic heterogeneity, and evidence for neurodevelopmental origins. Driven by new genetic technologies and advances in molecular medicine, there has recently been concrete progress in understanding some of the specific genetic causes of this serious psychiatric illness. In particular, several large rare structural variants have been convincingly associated with schizophrenia, in targeted studies over two decades with respect to 22q11.2 microdeletions, and more recently in large-scale, genome-wide case-control studies. These advances promise to help many families afflicted with this disease. In this review, we critically appraise recent developments in the field of schizophrenia genetics through the lens of immediate clinical applicability. Much work remains in translating the recent surge of genetic research discoveries into the clinic. The epidemiology and basic genetic parameters (such as penetrance and expression of most genomic disorders associated with schizophrenia are not yet well characterized. To date, 22q11.2 deletion syndrome is the only established genetic subtype of schizophrenia of proven clinical relevance. We use this well-established association as a model to chart the pathway for translating emerging genetic discoveries into clinical practice. We also propose new directions for research involving general genetic risk prediction and counseling in schizophrenia.Keywords: schizophrenia, genetics, 22q11 deletion syndrome, copy number variation, genetic counseling, genetic predisposition to disease

  12. Translation and adaption of the Genetic Counseling Outcome Scale (GCOS-24) to Danish

    DEFF Research Database (Denmark)

    Diness, Birgitte Rode; Overbeck, Gritt; Duelund, T.


    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...

  13. Awareness of Genetic Counseling and Perceptions of its purpose: a survey of the Canadian public (United States)

    Maio, Melissa; Carrion, Prescilla; Yaremco, Elyse; Austin, Jehannine C.


    Genetic counseling can result in better outcomes when clients understand what to expect, and at least theoretically, at some point in their lifespan, anyone could be referred for or benefit from genetic counseling. Thus, in order to identify (and ultimately address) issues around awareness of genetic counseling and perceptions of its purpose, we surveyed the Canadian general population. We acquired 1000 telephone numbers corresponding to a demographically representative sample of Canada from Survey Sampling International, and invited individuals to participate in a telephone-based survey. We administered a purpose-designed survey (in either French or English) comprising questions regarding: demographics, whether or not the individual had heard of genetic counseling, and 15 Likert scale-rated (strongly disagree – strongly agree) items about the possible purposes of genetic counseling. Responses to these 15 items were used to generate a total “knowledge score”. Of the 1000 numbers, n=372 could not be reached, and the survey was successfully administered to n=188 individuals (response rate 30%). Most respondents (n=129, 69%) had not heard of genetic counseling, and substantial proportions thought that genetic counseling aims to prevent genetic diseases and abnormalities, help couples have children with desirable characteristics, and help people to understand their ancestry. These data could be used to inform the strategy for development of future awareness efforts, and as a baseline from which to measure their effects. PMID:23963834

  14. Genetic counseling and the disabled: feminism examines the stance of those who stand at the gate. (United States)

    Patterson, Annette; Satz, Martha


    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.

  15. Form Follows Function: A Model for Clinical Supervision of Genetic Counseling Students. (United States)

    Wherley, Colleen; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S


    Supervision plays a vital role in genetic counselor training, yet models describing genetic counseling supervision processes and outcomes are lacking. This paper describes a proposed supervision model intended to provide a framework to promote comprehensive and consistent clinical supervision training for genetic counseling students. Based on the principle "form follows function," the model reflects and reinforces McCarthy Veach et al.'s empirically derived model of genetic counseling practice - the "Reciprocal Engagement Model" (REM). The REM consists of mutually interactive educational, relational, and psychosocial components. The Reciprocal Engagement Model of Supervision (REM-S) has similar components and corresponding tenets, goals, and outcomes. The 5 REM-S tenets are: Learning and applying genetic information are key; Relationship is integral to genetic counseling supervision; Student autonomy must be supported; Students are capable; and Student emotions matter. The REM-S outcomes are: Student understands and applies information to independently provide effective services, develop professionally, and engage in self-reflective practice. The 16 REM-S goals are informed by the REM of genetic counseling practice and supported by prior literature. A review of models in medicine and psychology confirms the REM-S contains supervision elements common in healthcare fields, while remaining unique to genetic counseling. The REM-S shows promise for enhancing genetic counselor supervision training and practice and for promoting research on clinical supervision. The REM-S is presented in detail along with specific examples and training and research suggestions.

  16. The Effects of Trait-Factor Theory Based Career Counseling Sessions on the Levels of Career Maturity and Indecision of High School Students (United States)

    Atli, Abdullah


    The study aimed to research the effect of career counseling sessions based on trait-factor theory on the career maturity and career indecision levels of high school students. "Single group pretest-posttest test design", one of the weaker test designs, was utilized in the study. The study was conducted with 57 students in Malatya city…

  17. The Use of Per Session Clinical Assessment with Clients in a Mental Health Delivery System: An Investigation into How Clinical Mental Health Counseling Practicum Students and Practicum Instructors Use Routine Client Progress Feedback (United States)

    Yates, Chad Michael


    The purpose of this study was to investigate how clinical mental health counseling practicum students and practicum instructors use per session assessment feedback with clients they served at a university counseling center. Per session assessment and feedback has been shown to increase the treatment outcomes that counselors achieve while treating…

  18. Primary prevention of childhood obesity through counselling sessions at Swedish child health centres

    DEFF Research Database (Denmark)

    Döring, Nora; Hansson, Lena M; Andersson, Elina Scheers


    circumference at four years. Secondary outcomes are children's and mothers' eating habits (assessed by a food frequency questionnaire), and children's and mothers' physical activity (measured by accelerometer and a validated questionnaire), and mothers' body mass index and waist circumference. DISCUSSION.......9%) responded to the validated physical activity and food frequency questionnaire at baseline (i.e., before the first intervention session, or, for children in the control group, before they reached 10 months of age). The food frequency questionnaire showed acceptable relative validity when compared with an 8......BACKGROUND: Childhood obesity is a growing concern in Sweden. Children with overweight and obesity run a high risk of becoming obese as adults, and are likely to develop comorbidities. Despite the immense demand, there is still a lack of evidence-based comprehensive prevention programmes targeting...

  19. Multicultural genetic counseling: then, now, and in the 21st century. (United States)

    Wang, V O


    Scholars, educators, and practitioners have argued that racial-cultural issues are obstacles for those seeking genetic counseling. When available, cross-cultural genetic counseling has focused on simplistic knowledge of client health beliefs and cultural customs, professional cultures, and biased theoretical models as reasons for failure to create realistic knowledge of members of racial-cultural groups in the United States. Recognizing the importance of meeting the needs for all who seek genetic counseling services, genetic counselors have been providing direction in cross-cultural genetic counseling research, practice, training, and developing competency, ethical, and professional guidelines. However, emanating from a cultural pluralism perspective, cross-cultural genetic counseling has often resulted in homogenized group stereotypes without attention to intragroup variation and individual differences. A transition from cross-cultural towards multicultural genetics shifts from culture-specific group norms to an integrated social, historical, psychological, and political perspective. By valuing the process of personal and professional racial-cultural identity development, the evolution from cross-cultural to multicultural genetic counseling that has occurred within the past quarter century is discussed.

  20. Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling. (United States)

    Godino, Lea; Pompilii, Eva; D'Anna, Federica; Morselli-Labate, Antonio M; Nardi, Elena; Seri, Marco; Rizzo, Nicola; Pilu, Gianluigi; Turchetti, Daniela


    Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P=0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P=0.0497 and P=0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals.

  1. Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral.

    NARCIS (Netherlands)

    Riel, E. van; Dulmen, S. van; Ausems, M.G.E.M.


    Both physician and patient play a role in the referral process for cancer genetic counseling. Access to such counseling is not optimal because some eligible patients are not being reached by current referral practice. We aimed to identify factors associated with the initiator of referral. During a 7

  2. Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral

    NARCIS (Netherlands)

    Riel, E. van; Dulmen, S. van; Ausems, M.G.


    Both physician and patient play a role in the referral process for cancer genetic counseling. Access to such counseling is not optimal because some eligible patients are not being reached by current referral practice. We aimed to identify factors associated with the initiator of referral. During a 7

  3. Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral.

    NARCIS (Netherlands)

    Riel, E. van; Dulmen, S. van; Ausems, M.G.E.M.


    Both physician and patient play a role in the referral process for cancer genetic counseling. Access to such counseling is not optimal because some eligible patients are not being reached by current referral practice. We aimed to identify factors associated with the initiator of referral. During a

  4. Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral

    NARCIS (Netherlands)

    Riel, E. van; Dulmen, S. van; Ausems, M.G.


    Both physician and patient play a role in the referral process for cancer genetic counseling. Access to such counseling is not optimal because some eligible patients are not being reached by current referral practice. We aimed to identify factors associated with the initiator of referral. During a

  5. Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias. (United States)

    Spoonamore, Katherine G; Ware, Stephanie M


    Sudden cardiac death due to heritable ventricular arrhythmias is an important cause of mortality, especially in young healthy individuals. The identification of the genetic basis of Mendelian diseases associated with arrhythmia has allowed the integration of this information into the diagnosis and clinical management of patients and at-risk family members. The rapid expansion of genetic testing options and the increasing complexity involved in the interpretation of results creates unique opportunities and challenges. There is a need for competency to incorporate genetics into clinical management and to provide appropriate family-based risk assessment and information. In addition, disease-specific genetic knowledge is required to order and correctly interpret and apply genetic testing results. Importantly, genetic diagnosis has a critical role in the risk stratification and clinical management of family members. This review summarizes the approach to genetic counseling and genetic testing for inherited arrhythmias and highlights specific genetic principles that apply to long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia.

  6. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study. (United States)

    Paneque, Milena; Sequeiros, Jorge; Skirton, Heather


    Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.

  7. Cancer Genetics Risk Assessment and Counseling (PDQ®)—Health Professional Version (United States)

    Expert-reviewed information summary in which cancer risk perception, risk communication, and risk counseling are discussed. The summary also contains information about recording and analyzing a family history of cancer and factors to consider when offering genetic testing.

  8. Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study (United States)

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.


    This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

  9. Incorporating medical interventions into carrier probability estimation for genetic counseling

    Directory of Open Access Journals (Sweden)

    Katki Hormuzd A


    Full Text Available Abstract Background Mendelian models for predicting who may carry an inherited deleterious mutation of known disease genes based on family history are used in a variety of clinical and research activities. People presenting for genetic counseling are increasingly reporting risk-reducing medical interventions in their family histories because, recently, a slew of prophylactic interventions have become available for certain diseases. For example, oophorectomy reduces risk of breast and ovarian cancers, and is now increasingly being offered to women with family histories of breast and ovarian cancer. Mendelian models should account for medical interventions because interventions modify mutation penetrances and thus affect the carrier probability estimate. Methods We extend Mendelian models to account for medical interventions by accounting for post-intervention disease history through an extra factor that can be estimated from published studies of the effects of interventions. We apply our methods to incorporate oophorectomy into the BRCAPRO model, which predicts a woman's risk of carrying mutations in BRCA1 and BRCA2 based on her family history of breast and ovarian cancer. This new BRCAPRO is available for clinical use. Results We show that accounting for interventions undergone by family members can seriously affect the mutation carrier probability estimate, especially if the family member has lived many years post-intervention. We show that interventions have more impact on the carrier probability as the benefits of intervention differ more between carriers and non-carriers. Conclusion These findings imply that carrier probability estimates that do not account for medical interventions may be seriously misleading and could affect a clinician's recommendation about offering genetic testing. The BayesMendel software, which allows one to implement any Mendelian carrier probability model, has been extended to allow medical interventions, so future

  10. Portrait of the Master Genetic Counselor Clinician: A Qualitative Investigation of Expertise in Genetic Counseling. (United States)

    Miranda, Cacy; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S


    This study comprises an initial empirical description of personal and professional characteristics of master genetic counselors-those considered to be experts in the profession. Fifteen peer-nominated genetic counselors, actively engaged in providing clinical services to patients, participated in semi-structured telephone interviews exploring their personal qualities, inspirations, and perspectives on professional development of expertise. Analysis using modified Consensual Qualitative Research methods yielded 7 domains and 33 categories. Findings indicate master genetic counselors have a strong passion for and dynamic commitment to the profession. They also have insatiable curiosity and are life-long learners who are reflective, self-aware, confident, and recognize their limitations. They are authentic and genuine, and consider their personality to be their counseling style. They form collaborative and interactive relationships with patients based on trust, and they have nuanced attunement to the complexity and multiple levels of the counseling process. Master genetic counselors have deep empathy and are inspired by patients and colleagues, and they derive personal meaning from their work. They are affected emotionally by their work, but effectively manage the emotional impact. They view their professional development as ongoing, influenced by colleagues, patients, mentoring, multicultural considerations, and their own family of origin. They also believe professional development of expertise occurs through critical reflection upon the experiences one accrues. Additional findings and their relationship to theory and research, study strengths and limitations, implication for training and practice, and research recommendation are discussed.

  11. Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (United States)

    Bennett, Robin L; Hart, Kimberly A; O'Rourke, Erin; Barranger, John A; Johnson, Jack; MacDermot, Kay D; Pastores, Gregory M; Steiner, Robert D; Thadhani, Ravi


    The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

  12. Genetic counseling in the adult with congenital heart disease: what is the role? (United States)

    Burchill, Luke; Greenway, Steven; Silversides, Candice K; Mital, Seema


    New discoveries using high-resolution methods for detecting genetic aberrations indicate that the genetic contribution to congenital heart disease has been significantly underestimated in the past. DNA diagnostics have become more accessible and genetic test results are increasingly being used to guide clinical management. Adult congenital heart disease specialists seeking to counsel adults with congenital heart disease about the genetic aspects of their condition face the challenge of keeping abreast of new genetic techniques and discoveries. The emphasis of this review is on the genetic basis of structural cardiovascular defects. A framework for identifying adult congenital heart disease patients most likely to benefit from genetic testing is suggested, along with a summary of current techniques for genetic testing. The clinical and ethical challenges associated with genetic counseling are highlighted. Finally, emerging technologies and future directions in genetics and adult congenital heart disease are discussed.

  13. Risk perception among women receiving genetic counseling: a population-based follow-up study

    DEFF Research Database (Denmark)

    Mikkelsen, Ellen M; Sunde, Lone; Johansen, Christoffer;


    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....... CONCLUSION: This population-based study of women with a family history of breast or ovarian cancer indicates that genetic counseling can help them both to reduce their perceived risk and to achieve a more realistic view of their risk of developing breast cancer. Udgivelsesdato: 2007-null......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...

  14. Video recording to improve the quality of prenatal genetic counselling.

    NARCIS (Netherlands)

    Spelten, E.; Gitsels, J.; Pereboom, M.; Martin, L.; Hutton, E.; Dulmen, S. van


    OBJECTIVES: Counselling on prenatal testing has become an increasing part of obstetric care in the Netherlands. The majority of Dutch women (>70%) are counselled by midwives on prenatal testing (Wiegers and Hingstman, 2008). Prenatal screening on congenital abnormalities is not routinely done and pr

  15. AB117. An exploration of Australasian genetic counsellors’ attitudes towards compassion fatigue, mindfulness and genetic counselling (United States)

    Burgess, Matthew; Tai, Geneieve; Martinek, Nathalie; Menezes, Melody; Delatycki, Martin


    Genetic counselling is a caring profession. It has been known for some time that genetic counsellors are susceptible to clinical burnout and/or compassion fatigue. Recent studies have shown that mindfulness may help health care professionals with their experience of burnout. It is hypothesised that mindful awareness may be useful in ameliorating these symptoms of burnout in genetic counsellors. The present study aims to collect information about the experiences of Australasian genetic counsellors in relation to compassion fatigue and mindfulness. This study is an online questionnaire open to practicing Australasian genetic counsellors. The survey is in three parts. The first part collects demographic information about the genetic counsellor completing the questionnaire. The second part of the survey is the Professional Quality of Life Scale, Compassion Satisfaction and Fatigue Subscales-Revision IV. The final part of the questionnaire is the Mindful Attention Awareness Scale. Both scales are validated. Descriptive analyses will generate frequency data to elicit a description of participants and the responses obtained. Analysis of categorical measures will be undertaken using χ2 (chi-squared) analysis to determine if there are any differences in responses. For continuous variables, differences in means between groups will be assessed using t-tests. Qualitative content analysis (inductive approach) will be utilised to analyse open ended responses. The results of this questionnaire will provide important data about clinical burnout and compassion fatigue among genetic counsellors and will enable recommendations about the use of mindfulness to minimise the impact of these on those in this profession.

  16. 2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling. (United States)

    Doyle, Debra Lochner; Awwad, Rawan I; Austin, Jehannine C; Baty, Bonnie J; Bergner, Amanda L; Brewster, Stephanie J; Erby, Lori A H; Franklin, Cathi Rubin; Greb, Anne E; Grubs, Robin E; Hooker, Gillian W; Noblin, Sarah Jane; Ormond, Kelly E; Palmer, Christina G; Petty, Elizabeth M; Singletary, Claire N; Thomas, Matthew J; Toriello, Helga; Walton, Carol S; Uhlmann, Wendy R


    The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.

  17. Alternate service delivery models in cancer genetic counseling: a mini-review

    Directory of Open Access Journals (Sweden)

    Adam Hudson Buchanan


    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.

  18. Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction. (United States)

    Robinson, C L; Jouni, H; Kruisselbrink, T M; Austin, E E; Christensen, K D; Green, R C; Kullo, I J


    We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45-65 years) were randomized to receive estimated 10-year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation.

  19. [Paternal GNAS mutations: Which phenotypes? What genetic counseling?]. (United States)

    Kottler, Marie-Laure


    Parental imprinting and the type of the genetic alteration play a determinant role in the phenotype expression of GNAS locus associated to pseudohypoparathyroidism (PHP). GNAS locus gives rise to several different messenger RNA transcripts that are derived from the paternal allele, the maternal allele, or both and can be either coding or non-coding. As a consequence, GNAS mutations lead to a wide spectrum of phenotypes. An alteration in the coding sequence of the gene leads to a haplo-insufficiency and a dysmorphic phenotype (Albright's syndrome or AHO). AHO is a clinical syndrome defined by specific physical features including short stature, obesity, round-shaped face, subcutaneous ossifications, brachymetarcapy (mainly of the 4th and 5th ray). If the alteration is on the maternal allele, there is a hormonal resistance to the PTH at the kidney level and to the TSH at the thyroid level. The phenotype is known as pseudohypoparathyroidism type 1a (PHP1a). If the alteration is on the paternal allele, there are few clinical signs with no hormonal resistance and the phenotype is known as pseudopseudo hypoparathyroidism (pseudo-PPHP). Heterozygous GNAS mutations on the paternal GNAS allele were associated with intra uterin growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exon 2-13 than with exon 1/intron 1 mutations suggesting a role for loss of function XLαs. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, characterized by cutaneous and subcutaneous ossifications progressing towards deep connective and muscular tissues. POH is caused by a heterozygous GNAS inactivating mutation and has been associated with paternal inheritance. However, genotype/phenotype correlations suggest that there is no direct correlation between the ossifying process and parental origin, as there is high variability in heterotopic ossification. Clinical heterogeneity makes genetic counseling a very delicate

  20. International genetic counseling students' perspective on their training experience in the United States. (United States)

    Sabbadini, Marta; Naldi, Mariana; Packman, Wendy; Youngblom, Janey; Weil, Jon


    International students face social, psychological and academic challenges upon moving to a foreign country to pursue higher education. Clinical disciplines such as genetic counseling present additional challenges adapting to an unfamiliar health care system and different interactions and expectations with patients and colleagues. This study used semi-structured interviews to identify challenges that international genetic counseling students face during training in the United States. Eight international genetic counseling alumni who graduated from U.S.-accredited programs were interviewed. Participants stated that the U.S. academic system was unfamiliar-class participation and paper-writing required the greatest adjustment. There was a need for help in understanding social norms in academic settings. Clinically, they were unfamiliar with the dynamics and communication style of U.S. families. Non-native English speakers experienced greater difficulty in all areas. Most participants reported that they were uncomfortable asking for help in transitioning to life, study and work. Participants identified mentorship programs for international students as potentially useful in clarifying expectations in academic and clinical settings. These results may assist international students preparing to study genetic counseling in the U.S. and may help genetic counseling training programs identify the academic and clinical challenges faced by international students.

  1. Specific psychosocial issues of individuals undergoing genetic counseling for cancer - a literature review. (United States)

    Eijzenga, Willem; Hahn, Daniela E E; Aaronson, Neil K; Kluijt, Irma; Bleiker, Eveline M A


    Approximately 25% of individuals undergoing genetic counseling for cancer experiences clinically relevant levels of distress, anxiety and/or depression. However, these general psychological outcomes that are used in many studies do not provide detailed information on the specific psychosocial problems experienced by counselees. The aim of this review was to investigate the specific psychosocial issues encountered by individuals undergoing genetic counseling for cancer, and to identify overarching themes across these issues. A literature search was performed, using four electronic databases (PubMed, PsychInfo, CINAHL and Embase). Papers published between January 2000 and January 2013 were selected using combinations, and related indexing terms of the keywords: 'genetic counseling', 'psychology' and 'cancer'. In total, 25 articles met our inclusion criteria. We identified the specific issues addressed by these papers, and used meta-ethnography to identify the following six overarching themes: coping with cancer risk, practical issues, family issues, children-related issues, living with cancer, and emotions. A large overlap in the specific issues and themes was found between these studies, suggesting that research on specific psychosocial problems within genetic counseling has reached a point of saturation. As a next step, efforts should be made to detect and monitor these problems of counselees at an early stage within the genetic counseling process.

  2. Receipt of genetic counseling recommendations among black women at high risk for BRCA mutations. (United States)

    Thompson, Hayley S; Sussner, Katarina; Schwartz, Marc D; Edwards, Tiffany; Forman, Andrea; Jandorf, Lina; Brown, Karen; Bovbjerg, Dana H; Valdimarsdottir, Heiddis B


    Low use of BRCA counseling and testing services among black women has been reported in several studies, even though such services may play an important role in reducing racial disparities in breast cancer. Surprisingly, little is known about the extent to which black women at high risk for BRCA mutations actually receive recommendations for BRCA counseling. Thus, a primary goal of the current study was to identify sociodemographic and clinical factors associated with the receipt of physician recommendation for genetic counseling based on the self-report of black women at high risk for BRCA mutations. In this cross-sectional study, participants were 125 black women with a family history suggestive of a hereditary breast and/or ovarian cancer syndrome. Participants were asked about their receipt of genetic counseling recommendation or referral. Physician recommendation was reported by over two-thirds of the sample. Multivariate analyses revealed that older age and study recruitment source, specifically community-based recruitment, were significantly and independently associated with lower likelihood of physician recommendation. Findings highlight the need for additional research to identify subgroups of high-risk black women among whom physician recommendation of genetic counseling is low but would benefit from such counseling.

  3. Genetic Counseling Supervisors' Self-Efficacy for Select Clinical Supervision Competencies. (United States)

    Finley, Sabra Ledare; Veach, Pat McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S; Callanan, Nancy


    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.

  4. Attitudes of medical students towards human genome research and genetic counselling and testing

    Directory of Open Access Journals (Sweden)

    Schäfer, Mike Steffen


    Full Text Available Purpose: The study aimed to describe students' attitudes towards human genome research and towards genetic counselling and testing at cancer patients. The background of this investigation provided the increasing relevance ob human genetics research for clinical practice.Methods: A total of 167 medical students (54% female, aged 24 +/- 2 years from the second phase of their studies were surveyed in obligatory courses at the University of Leipzig, using a standardized questionnaire. Topics of the survey were attitudes towards human genome research and genetic counselling and testing at cancer patients as well as general values and socio-demographic data of the students.Results: The students consider human genome research as relevant and evaluate it positively, mainly based on expectations of medical uses. Genetic counselling and testing at cancer patients as an application of human genetics is also evaluated as important. The students attribute high relevance to clinical procedures for identification of genetic backgrounds for cancer (family history, information about genetic diagnostic. Nevertheless, deficits in their medical education are highlighted und reflected upon: the increased integration of human genetic content into medical curricula is demanded.Discussion: In accordance with the newly formulated „Approbationsordnung für Ärzte", the results suggest that current human genetic development should be more emphasized in medical education. This could be realized by an enlarged ratio of human genetic courses within curricula and by the transformation of these courses from facultative into obligatory.

  5. Deaf Adults’ Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study


    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.


    This article examines the relationship between cultural affiliation and deaf adults’ motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf, or both communities, rated interest in testing for 21 reasons covering 5 life domains. Findings suggest strong interest in testing to learn why they ...

  6. Genetic counseling for breast cancer risk: how did we get here and where are we going? (United States)

    Lang, Katherine Af


    Genetic counselors have been helping patients navigate hereditary cancer risk for decades. The rapidly changing landscape of genetic testing options means the field is again at a unique time in its history. Fears that arose when BRCA testing first became available are again being voiced in light of next-generation sequencing. The origins of genetic counseling, best practices, and recommendations that have come about since those early days need to be well understood before these new challenges can be met. The role of a proper risk assessment in preventing adverse outcomes is vital as options for testing change. In addition, an understanding of how various countries have incorporated genetic testing and genetic counseling into their healthcare systems can provide lessons in moving forward and capitalizing on the new technology that is again creating a genetics revolution.

  7. Simulation based virtual learning environment in medical genetics counseling

    DEFF Research Database (Denmark)

    Makransky, Guido; Bonde, Mads T.; Wulff, Julie S. G.


    that they would feel more confident counseling a patient after the simulation. CONCLUSIONS: The simulation based learning environment increased students' learning, intrinsic motivation, and self-efficacy (although the strength of these effects differed depending on their pre-test knowledge), and increased...

  8. Learning More about Those Who Play in Session: The National Play Therapy in Counseling Practices Project (Phase I) (United States)

    Lambert, Simone F.; LeBlanc, Michael; Mullen, Jodi Ann; Ray, Dee; Baggerly, Jennifer; White, JoAnna; Kaplan, David


    Through a joint research committee sponsored by the Association for Play Therapy (APT) and the American Counseling Association (ACA), The National Play Therapy in Counseling Practices Project conducted the first phase of investigation. Findings offered a snapshot of mental health providers of play therapy, regarding the nature of who they are and…

  9. 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


    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.

  10. An investigation of relationships among genetic counselors' supervision skills and multicultural counseling competence. (United States)

    Kyung Lee, Hyun; McCarthy Veach, Patricia; LeRoy, Bonnie S


    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.

  11. Genetic counseling: a survey to explore knowledge and attitudes of Italian nurses and midwives. (United States)

    Godino, Lea; Turchetti, Daniela; Skirton, Heather


    In the past, genetic services were delivered to a limited number of families with rare conditions. However, genomics is now being applied to both inherited and common diseases in a range of healthcare settings, and there is a greater need for nurses to understand the basic concepts of genetic health care. The aim of this cross-sectional survey was to explore the understanding and attitudes of Italian nurses toward genetic health care. A questionnaire was completed by 102 nurses and midwives (85% response rate). Of these, 61% believed that genetic counseling was only an informative and advisory process, and 53.9% could not specify to whom the counseling was aimed. When asked to identify nurses' role in genetic health care, 62% of the respondents believed they had no role, although 28% believed that nurses could provide information, support, and counseling. These findings indicate that nurses have only partial knowledge of the issues surrounding genetic health care. To prepare nurses for the post-genomic era, improved genetic education at the undergraduate and postgraduate levels is required.

  12. Large, Prospective Analysis of the Reasons Patients Do Not Pursue BRCA Genetic Testing Following Genetic Counseling. (United States)

    Hayden, Sommer; Mange, Sarah; Duquette, Debra; Petrucelli, Nancie; Raymond, Victoria M


    Genetic counseling (GC) and genetic testing (GT) identifies high-risk individuals who benefit from enhanced medical management. Not all individuals undergo GT following GC and understanding the reasons why can impact clinical efficiency, reduce GT costs through appropriate identification of high-risk individuals, and demonstrate the value of pre-GT GC. A collaborative project sponsored by the Michigan Department of Health and Human Services prospectively collects anonymous data on BRCA-related GC visits performed by providers in Michigan, including demographics, patient/family cancer history, GT results, and reasons for declining GT. From 2008 to 2012, 10,726 patients underwent GC; 3476 (32.4%) did not pursue GT. Primary reasons included: not the best test candidate (28.1%), not clinically indicated (23.3%), and insurance/out of pocket cost concerns (13.6%). Patient disinterest was the primary reason for declining in 17.1%. Insurance/out of pocket cost concerns were the primary reason for not testing in 13.4% of untested individuals with private insurance. Among untested individuals with breast and/or ovarian cancer, 22.5% reported insurance/out of pocket cost concerns as the primary reason for not testing and 6.6% failed to meet Medicare criteria. In a five-year time period, nearly one-third of patients who underwent BRCA GC did not pursue GT. GT was not indicated in almost half of patients. Insurance/out of pocket cost concerns continue to be barriers.

  13. BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation. (United States)

    Sussner, Katarina M; Edwards, Tiffany; Villagra, Cristina; Rodriguez, M Carina; Thompson, Hayley S; Jandorf, Lina; Valdimarsdottir, Heiddis B


    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.

  14. Communication and technology in genetic counseling for familial cancer. (United States)

    Lynch, H T; Snyder, C; Stacey, M; Olson, B; Peterson, S K; Buxbaum, S; Shaw, T; Lynch, P M


    When a cancer predisposing germline mutation is detected in an index case, the presence of the underlying syndrome is confirmed and the potential for predictive testing of at-risk relatives is established. However, the reporting of a positive family history does not routinely lead to communication of information about risk to close, much less distant relatives. This review summarizes information technology utilized to address penetration or 'reach' of knowledge of risk within extended families, including the use of telephone and video counseling to reach distant patients, and anticipate novel internet-based processes for communication between investigators and relatives.

  15. Effect of screening for cystic-fibrosis on the influence of genetic-counseling

    NARCIS (Netherlands)

    Dankert-Roelse, J E; te Meerman, G J; Knol, K; ten Kate, L P


    We studied the influence of genetic counseling for cystic fibrosis on family planning, using neonatal screening, family size at time of diagnosis, and maternal age as possible determinants for reproductive behaviour. The expected number of children born to mothers of equal age and parity in the same

  16. Focusing on patient needs and preferences may improve genetic counseling for colorectal cancer

    NARCIS (Netherlands)

    Salemink, S.; Dekker, N.; Kets, C.M.; Looij, E. van der; Zelst-Stams, W.A.G. van; Hoogerbrugge-van der Linden, N.


    During cancer genetic counseling, different items which counselors consider important are discussed. However, relatively little empirical evidence exists regarding the needs and preferences of counselees. In this study needs and preferences were assessed from counselees with a personal and/or family

  17. Specific psychosocial issues of individuals undergoing genetic counseling for cancer - a literature review

    NARCIS (Netherlands)

    Eijzenga, W.; Hahn, D.E.E.; Aaronson, N.K.; Kluijt, I.; Bleiker, E.M.A.


    Approximately 25 % of individuals undergoing genetic counseling for cancer experiences clinically relevant levels of distress, anxiety and/or depression. However, these general psychological outcomes that are used in many studies do not provide detailed information on the specific psychosocial probl

  18. The Convergence of Counseling and Psychiatric Genetics: An Essential Role for Counselors (United States)

    Douthit, Kathryn Z.


    Research in psychiatric genetics shows that many mental disorders commonly seen by counselors are associated with the presence of specific genes. Although findings in gene research call for some changes in the way counselors approach intervention, in most cases, the importance of the counseling profession's core commitments is underscored. This…

  19. 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.


    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 d

  20. 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.


    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

  1. Specific psychosocial issues of individuals undergoing genetic counseling for cancer - a literature review

    NARCIS (Netherlands)

    W. Eijzenga; D.E.E. Hahn; N.K. Aaronson; I. Kluijt; E.M.A. Bleiker


    Approximately 25 % of individuals undergoing genetic counseling for cancer experiences clinically relevant levels of distress, anxiety and/or depression. However, these general psychological outcomes that are used in many studies do not provide detailed information on the specific psychosocial probl

  2. Genetic testing and counselling in inherited eye disease

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne


    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......, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects....

  3. Measuring the impacts of seclusion on psychiatry inpatients and the effectiveness of a pilot single-session post-seclusion counselling intervention. (United States)

    Whitecross, Fiona; Seeary, Amy; Lee, Stuart


    Despite the accumulation of evidence demonstrating patients' accounts of trauma associated with seclusion, the use of evidence-based post-seclusion debriefing is not apparent in the published work. This study aimed to identify the impacts seclusion has on an individual using the Impact of Events - Revised (IES-R), a standardized and widely used measure of trauma symptoms, and measure the effectiveness of a post-seclusion counselling intervention in mitigating the experience of seclusion-related trauma and reducing time spent in seclusion. The study design involved a comparison of the seclusion-related trauma and time in seclusion that was experienced by consenting patients managed on the two inpatient wards of Alfred Psychiatry. To investigate the efficacy of post-seclusion counselling to reduce event-related trauma as well as the use of seclusion, a brief single-session intervention was piloted comparing outcomes for patients treated on a ward implementing semistructured post-seclusion counselling and patients treated on a ward continuing with post-seclusion support as usual. A total of 31 patients consented to participate, with approximately 47% reporting trauma symptoms consistent with 'probable post-traumatic stress disorder' (IES-R total score, >33), although there was no difference in trauma experience between groups. Significantly fewer hours were spent in seclusion for patients treated on the ward piloting the post-seclusion counselling intervention. Findings, therefore, highlight not only the potential for significant trauma stemming from a seclusion event, but also the capacity for the implementation of such interventions as post-seclusion counselling to raise awareness of the need to minimize time spent in seclusion for patients.

  4. Sources of uncertainty about daughters' breast cancer risk that emerge during genetic counseling consultations. (United States)

    Bylund, Carma L; Fisher, Carla L; Brashers, Dale; Edgerson, Shawna; Glogowski, Emily A; Boyar, Sherry R; Kemel, Yelena; Spencer, Sara; Kissane, David


    Uncertainty is central to the experience of genetic decision making and counseling about cancer risk. Women seeking genetic counseling about their breast cancer risk may experience a great deal of uncertainty about issues related to their daughters. We used a theory of Communication and Uncertainty Management to guide analysis of sources of uncertainty about daughters that emerged during 16 video-recorded and transcribed conversations between mothers at risk for a BRCA 1/2 mutation and their genetic healthcare practitioners. An interpretive design and constant comparative method revealed three dominant patterns or themes representing sources of uncertainty mothers have relating to their daughters: disease risk, future cancer screening, and communication of related information to daughters. Both practitioners and mothers discussed these aspects of uncertainty. The findings identify the significant role uncertainty and familial concerns play in mothers' genetic testing decision making process. To assist genetic practitioners, we highlight daughter-related concerns that mothers are uncertain about and which are vital to their genetic counseling needs.

  5. Simulation based virtual learning environment in medical genetics counseling

    DEFF Research Database (Denmark)

    Makransky, Guido; Bonde, Mads T; Wulff, Julie S G;


    understanding of medical genetics, 82 % thought that medical genetics was more interesting, 93 % indicated that they were more interested and motivated, and had gained confidence by having experienced working on a case story that resembled the real working situation of a doctor, and 78 % indicated...

  6. [Familial colorectal and breast carcinoma--genetic counseling and presymptomatic diagnosis]. (United States)

    Müller, H; Scott, R J


    Several types of hereditary cancer can be prevented from progressing to advanced stages by regular surveillance of the person at risk and hence by the early treatment of a developing neoplasia. Genetic counselling of such patients and their relatives is therefore an important task whose value often remains unrecognized. This is especially true for the common forms of hereditary cancer such as breast and colorectal cancer, which aggregate in up to 5% of all patients according to the rules of autosomal-dominant inheritance. Preventive measures are particularly promising in the case of familial cancer because persons at risk are motivated to seek medical help. Genetic counselling is a multifaceted process and involves more than an accurate diagnosis and risk estimate. The counseled patient expects and deserves an open and reasonable answer to his questions about the implications of his/her cancer predisposition or his family history. Accurate diagnosis of the underlying susceptibility is the cornerstone of genetic counselling because most cancers seem to have multiple causes. Different genes located on different chromosomes can independently give rise to the same malignancy. Besides heterogeneity, presymptomatic testing for inherited susceptibilities to cancer raises many issues including therapy, access, intense anxiety, and discrimination.

  7. Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

    Directory of Open Access Journals (Sweden)

    Ryszard Slezak


    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.

  8. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. (United States)

    Bennett, Robin L; Motulsky, Arno G; Bittles, Alan; Hudgins, Louanne; Uhrich, Stefanie; Doyle, Debra Lochner; Silvey, Kerry; Scott, C Ronald; Cheng, Edith; McGillivray, Barbara; Steiner, Robert D; Olson, Debra


    The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

  9. [Genetic counseling for adults: the risk of late-onset inherited diseases]. (United States)

    Dürr, Alexandra; Feingold, Josué


    Genetic counselling for adults is not classical since it deals with prospective assessment of risk in developing disease. 1% of adults have a monogenic disease, or are carriers of a genotype predisposing to a disease. Situations that need genetic counselling are: confirmation of a diagnosis of an inherited disease already known in the family; discovery of a new genetic disease in an adult with no family history of the disease (reduced penetrance); and presymptomatic and prenatal diagnosis for late onset diseases. The prescription of presymptomatic testing is limited to the intervention of multidisciplinary teams, bringing together medical expertise and notified to needed. This is a special situation because it is not always followed by a preventive action or treatment.

  10. Cultural beliefs on disease causation in the Philippines: challenge and implications in genetic counseling. (United States)

    Abad, Peter James B; Tan, Michael L; Baluyot, Melissa Mae P; Villa, Angela Q; Talapian, Gay Luz; Reyes, Ma Elouisa; Suarez, Riza Concordia; Sur, Aster Lynn D; Aldemita, Vanessa Dyan R; Padilla, Carmencita David; Laurino, Mercy Ygona


    The provision of culturally competent health care is an important professional issue recognized by the pioneer genetic counselors in the Philippines. Being an archipelago consisting of 7,107 islands, the Philippines has approximately 175 ethnolinguistic groups with their own unique cultural identity and health practices. The emphasis on culture in our genetic counseling training recognizes its crucial role in molding an individual's conceptualization of health, as well as other life aspects, especially since the Filipino culture is a mixture of indigenous as well as imported and borrowed elements. As part of this endeavor, we will describe in this paper seven common Filipino cultural beliefs: namamana, lihi, sumpa, gaba, pasma, namaligno, and kaloob ng Diyos. We will also share examples on how these common beliefs provide explanation as cause of illness and its implications in our genetic counseling profession.

  11. Does Self-Image Matter? Client's Self-Image, Behaviour and Evaluation of a Career Counselling Session: An Exploratory Study (United States)

    Schedin, Gunnar; Armelius, Kerstin


    This exploratory study addresses differences in self-image as a client characteristic in career counselling by using the Structural Analysis of Social Behaviour (Benjamin, L., "Journal of Consulting and Clinical Psychology," 64(6), 1203-1212, 1996; Benjamin, L., "Journal of Personality Assessment," 66(2), 248-266, 1996) and an adaptation…

  12. The views of Pakistani doctors regarding genetic counseling services - is there a future? (United States)

    Ashfaq, Myla; Amanullah, Farhana; Ashfaq, Ayesha; Ormond, Kelly E


    Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master's level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master's level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100 % (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic's clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1 %), discussing genes associated with breast cancer (77.4 %), and explaining the inheritance pattern of β-thalassemia (65.5 %). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98 %) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3 %) and to help explain carrier screening results (94.1 %). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8 %), followed by specialist MDs (26 %) and general physicians (22.9 %). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.

  13. The Relationship Between the Genetic Counseling Profession and the Disability Community: A Commentary (United States)

    Madeo, Anne C.; Biesecker, Barbara B.; Brasington, Campbell; Erby, Lori H.; Peters, Kathryn F.


    Since the inception of the field of genetic counseling, the profession has had a tenuous relationship with the disability community. Genetic counselors both offer prenatal diagnostic testing that allows individuals the opportunity to avoid the birth of a child with a disability and they advocate for the rights of individuals who have a disability. Some in the disability rights community have argued that they feel their lives and the lives of the disabled individuals in their families judged by the offer of prenatal genetic diagnosis and by the attitudes of genetic service providers they encounter in clinical settings. Select voices from the disability community fear that the result of developing technologies may contribute to a world less tolerant of disabilities. The available empirical data suggest that genetic counselors do little to counteract these perspectives. Although limited, investigations into the attitudes and practices of genetic counselors suggest that they have a more negative perspective on disabilities than individuals whose lives are directly affected by them and these attitudes may affect their description of disabling conditions in a prenatal setting. The National Society of Genetic Counselors, the organization that represents the profession in the US has more publicly aligned itself with abortion service providers over disease advocacy organizations, thus subjecting itself to the perception of bias. We suggest possible solutions to these criticisms and argue that individually and collectively, genetic counseling professionals should develop and identify opportunities to more fully support and advocate for the needs of a broader spectrum of clients. PMID:21567935

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

    Directory of Open Access Journals (Sweden)

    Datta SK


    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

  15. Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly. (United States)

    Clementi, Maurizio; Di Gianantonio, Elena; Ponchia, Rossella; Petrella, Marilena; Andrisani, Alessandra; Tenconi, Romano


    Couples undergoing invasive prenatal diagnosis (PD) are informed and concerned mainly about autosomal trisomies. However, unexpected chromosomal abnormalities (UCA) are a frequent finding at PD. We have analysed the psychological and practical consequences in the couples counselled in our centre because of the identification of foetal UCA at PD. The study was carried out on a sample of 52 couples referred for genetic counselling in the period 1997-2000. The couples underwent a structured interview and two self-report instruments to measure anxiety and psychological characteristics. The couples have been divided into three groups: (1) low risk - without or with negligible risk, (2) mild risk - with mild risk or mild clinical phenotype and (3) sex chromosome anomaly. All couples received the diagnosis of chromosomal anomaly from the obstetrician without any other comments and were referred to our service for genetic counselling. Most couples felt fear (11/17 in the LR group, 5/7 in the MR group and 12/21 in the SCA group), while sadness was lower frequently felt by those parents-to-be in the LR group. Our study suggests that a specific counselling that mentions the possibility of UCA is mandatory before PD, and the cost-benefit estimate of PD should take into account the psychological implications of UCA detection.

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

    Directory of Open Access Journals (Sweden)

    Farmer Jennifer M


    serious effect on family life and finances, while almost half perceived there to be an effect on the spouse, quality of life, and the relationship between home and work. However, these topics were reportedly not discussed within genetic counseling sessions 2728. Overall, there is limited information about the experiences of transitional life events in FRDA, as well as a lack of recommendations for genetic counselors and other health care providers to assist patients through these events. Our study investigated perceptions of patients with Friedreich ataxia to 1 identify key transitional events and specific needs associated with events; 2 describe perception of factors to facilitate progression through the identified events; and 3 explore the actual or potential role of the health care provider in facilitating adaptation to the identified events. Data were used to make suggestions for developmental genetic counseling approaches in the context of ongoing care of clients with hereditary, progressive, neurodegenerative conditions.

  17. Breast Cancer Genetic Counseling: A Surgeon’s Perspective

    Directory of Open Access Journals (Sweden)

    Doreen Marie Agnese


    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.

  18. Genetic Counseling for Breast Cancer Susceptibility in African American Women (United States)


    physicians and clinic staff at the University of Pennsylvania Health System ( UPHS ). Women were also recruited through referrals from physicians events (e.g., health fairs). Women who were recruited through physi- cians and clinic staff at the UPHS and other clinical facilities were told...women were identified from the University of Pennsylvania Health System ( UPHS ), other health care facilities and community resources. Genetic

  19. Risk, medicine and women: a case study on prenatal genetic counselling in Brazil. (United States)

    Guilam, Maria Cristina R; Corrêa, Marilena C D V


    Genetic counselling is an important aspect of prenatal care in many developed countries. This tendency has also begun to emerge in Brazil, although few medical centres offer this service. Genetic counselling provides prenatal risk control through a process of individual decision-making based on medical information, in a context where diagnostic and therapeutic possibilities overlap. Detection of severe foetal anomalies can lead to a decision involving possible termination of pregnancy. This paper focuses on medical and legal consequences of the detection of severe foetal anomalies, mainly anencephaly and Down syndrome, and in light of the fact that abortion is illegal in Brazil. The discussion is based on the literature and empirical research at a high-complexity public hospital in Rio de Janeiro.

  20. What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective. (United States)

    Guimarães, Lídia; Sequeiros, Jorge; Skirton, Heather; Paneque, Milena


    Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.

  1. [Genetic counseling in the Mental Health Research Center of the Russian Academy of Medical Sciences]. (United States)

    Golimbet, V E; Demikova, N S; Alfimova, M V; Urarova, L G; Lezheĭko, T V; Asanov, A Iu


    Current concepts on the role of genetic factors in the development of schizophrenia and on the relative risk for this disease and spectrum disorders are reviewed. An analysis of the results of genetic counseling of 120 subjects revealed that, comparing to other mental disorders, patients with schizophrenia or relatives, mostly those having a schizophrenic parent (40%) or spouse (25%), referred more frequently for a consultation. Most of the referrals (70%) had a high educational level. As it was found out during the counseling, up to 20% of the relatives met a diagnosis of psychiatric disorders, mostly personality disorder (9%) and depressive state (7%). Psychological testing with personality inventories revealed a high level of personality abnormalities (schizoid--22%, hyperthymic--16% and obsessive-anxiety--4%) in 43% close relatives of patients seeking medicogenetic advice. The genetic counseling featured by the use of the comprehensive approach, basing on all obtained data (psychiatric, psychological, neurophysiologic etc.), that increases its accuracy and may assist families in taking a reasonable decision in birth planning.

  2. Measuring the Effectiveness of a Genetic Counseling Supervision Training Conference. (United States)

    Atzinger, Carrie L; He, Hua; Wusik, Katie


    Genetic counselors who receive formal training report increased confidence and competence in their supervisory roles. The effectiveness of specific formal supervision training has not been assessed previously. A day-long GC supervision conference was designed based on published supervision competencies and was attended by 37 genetic counselors. Linear Mixed Model and post-hoc paired t-test was used to compare Psychotherapy Supervisor Development Scale (PSDS) scores among/between individuals pre and post conference. Generalized Estimating Equation (GEE) model and post-hoc McNemar's test was used to determine if the conference had an effect on GC supervision competencies. PSDS scores were significantly increased 1 week (p competencies, attendees were more likely to agree they were able to perform them after the conference than before. These effects remained significant 6 months later. For the three remaining competencies, the majority of supervisors agreed they could perform these before the conference; therefore, no change was found. This exploratory study showed this conference increased the perceived confidence and competence of the supervisors who attended and increased their self-reported ability to perform certain supervision competencies. While still preliminary, this supports the idea that a one day conference on supervision has the potential to impact supervisor development.

  3. 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


    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...... with hereditary cancer. It is feasible to perform a molecular screening to select patients for genetic counselling....

  4. 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.


    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 th

  5. Elaboration of the definition of genetic counseling into a model for counselee decision-making. (United States)

    Bringle, R G; Antley, R M


    Genetic counselors are generally trained in genetics only and often have no basis for determining when a counselee has made an informed decision and the counselor's function is complete. A theory of genetic counseling (GC) is offered which interrelates genetic information, psychological responses, learning theory, and decision making, reflecting a shift from a eugenic orientation to an orientation concerned with the physical and mental well-being of counselees. GC is 1st defined as enabling the counselee to comprehend the medical facts of genetic disorders, heredity, risks, and alternatives, as well as to make a healthy adjustment to a family member's disorder and risk of recurrence. The process of learning is broken down into a hierarchical relationship between acquisition, understanding, and personalization of facts, and applied to the GC situation; e.g. "the options are as follows;" "they can be exercised by couples in certain ways;" and "we have the following choices to make." Personalization of knowledge means integration into one's own value system where it will affect decisions made, a process affected by factors such as stress. Often, the information provided by GC is not the only information the counselee possesses, and it will be integrated with other conceptions. Normative social influences (e.g. a family's attitude towards abortion) affect the behavioral intention. And finally, the behavioral intention is not always equivalent to the actual behavior. These process are all related to the way in which a family deals with the stress caused by a genetic disorder. GC outcomes are easier to measure than those of psychological counseling. Extending the model to clinical application implies 1) assessment; 2) setting objectives; 3) counseling; and 4) evaluation.

  6. Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil. (United States)

    Palmero, Edenir Inez; Ashton-Prolla, Patricia; da Rocha, José Cláudio C; Vargas, Fernando Regla; Kalakun, Luciane; Blom, Melissa Brauner; Azevedo, Sérgio J; Caleffi, Maira; Giugliani, Roberto; Schüler-Faccini, Lavinia


    Hereditary breast cancer (HBC) accounts for 5-10% of breast cancer cases and it significantly increases the lifetime risk of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals, disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established.

  7. Genetic counseling for thalassemia in the Islamic Republic of Iran. (United States)

    Strauss, Bernard S


    The response of groups to pressing medical problems cannot be predicted on theoretical grounds. An example is the program for the control of beta-thalassemia in Iran, a country with a tradition of inbreeding and a conservative religious culture, and in which thalassemia is common. Thalassemia is largely treatable, but the treatment is lifelong and onerous and creates a serious economic burden for the individual family and for the national health budget. The genetics are simple, and inexpensive screening tests are available to identify carriers. An Iranian program requiring mandatory premarital screening was started in 1997, and between 1998 and 2005 the laws of the country were modified to permit abortion of affected fetuses. The story of this effort indicates how a country with a social system very different from that of the United States responded to a medical problem with significant ethical overtones. The Iranian experience supports the optimistic view that societies can react to pressing problems with pragmatic rather than theoretical solutions.

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

  9. The impact of population heterogeneity on risk estimation in genetic counseling

    Directory of Open Access Journals (Sweden)

    Shaffer Michele L


    Full Text Available Abstract Background Genetic counseling has been an important tool for evaluating and communicating disease susceptibility for decades, and it has been applied to predict risks for a wide class of hereditary disorders. Most diseases are complex in nature and are affected by multiple genes and environmental conditions; it is highly likely that DNA tests alone do not define all the genetic factors responsible for a disease, so that persons classified into the same risk group by DNA testing actually could have different disease susceptibilities. Ignorance of population heterogeneity may lead to biased risk estimates, whereas additional information on population heterogeneity may improve the precision of such estimates. Methods Although DNA tests are widely used, few studies have investigated the accuracy of the predicted risks. We examined the impact of population heterogeneity on predicted disease risks by simulation of three different heterogeneity scenarios and studied the precision and accuracy of the risks estimated from a logistic regression model that ignored population heterogeneity. Moreover, we also incorporated information about population heterogeneity into our original model and investigated the resulting improvement in the accuracy of risk estimation. Results We found that heterogeneity in one or more categories could lead to biased estimates not only in the "contaminated" categories but also in other homogeneous categories. Incorporating information about population heterogeneity into the original model greatly improved the accuracy of risk estimation. Conclusions Our findings imply that without thorough knowledge about genetic basis of the disease, risks estimated from DNA tests may be misleading. Caution should be taken when evaluating the predicted risks obtained from genetic counseling. On the other hand, the improved accuracy of risk estimates after incorporating population heterogeneity information into the model did point out a

  10. Genetic Influences on Physiological and Subjective Responses to an Aerobic Exercise Session among Sedentary Adults

    Directory of Open Access Journals (Sweden)

    Hollis C. Karoly


    Full Text Available Objective. To determine whether genetic variants suggested by the literature to be associated with physiology and fitness phenotypes predicted differential physiological and subjective responses to a bout of aerobic exercise among inactive but otherwise healthy adults. Method. Participants completed a 30-minute submaximal aerobic exercise session. Measures of physiological and subjective responding were taken before, during, and after exercise. 14 single nucleotide polymorphisms (SNPs that have been previously associated with various exercise phenotypes were tested for associations with physiological and subjective response to exercise phenotypes. Results. We found that two SNPs in the FTO gene (rs8044769 and rs3751812 were related to positive affect change during exercise. Two SNPs in the CREB1 gene (rs2253206 and 2360969 were related to change in temperature during exercise and with maximal oxygen capacity (VO2 max. The SLIT2 SNP rs1379659 and the FAM5C SNP rs1935881 were associated with norepinephrine change during exercise. Finally, the OPRM1 SNP rs1799971 was related to changes in norepinephrine, lactate, and rate of perceived exertion (RPE during exercise. Conclusion. Genetic factors influence both physiological and subjective responses to exercise. A better understanding of genetic factors underlying physiological and subjective responses to aerobic exercise has implications for development and potential tailoring of exercise interventions.

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

    Amara, Nabil; Blouin-Bougie, Jolyane; Jbilou, Jalila; Halilem, Norrin; Simard, Jacques; Landry, Réjean


    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.

  12. 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


    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.

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

    Rodrigues, Fidjy; Paneque, Milena; Reis, Cláudia; Venâncio, Margarida; Sequeiros, Jorge; Saraiva, Jorge


    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.

  14. Genetic counseling, activism and 'genotype-first' diagnosis of developmental disorders. (United States)

    Navon, Daniel


    This paper presents a sociological examination of the role of genetic counselors as advocates, not only for patients and their families, but also for genetic conditions themselves. In becoming activists for new disorders, genetic counselors are helping to create new categories that will shape expectations and treatment regimens for both existing patients and those who are yet to be diagnosed. By virtue of their expertise and their position at the intersection of several key professions and constituencies, genetic counselors are likely to play a central role in the way the genetic testing technologies, and especially 'genotype-first' diagnosis, impacts the way we understand and categorize developmental difference. I outline some of the promises and dangers that this kind of activism holds for people with developmental disabilities, and particularly the challenge presented by systemic ascertainment bias in the face of genotype-phenotype uncertainty. I argue that new testing techniques like microarray analysis that do not need to be targeted on the basis of clinical presentation throw these challenges into sharp relief, and that the genetic counseling community should consider how to marry advocacy for new genetic conditions with an emphasis on the indeterminate developmental potential of every child.

  15. Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication. (United States)

    Hodgson, Jan; Metcalfe, Sylvia; Gaff, Clara; Donath, Susan; Delatycki, Martin B; Winship, Ingrid; Skene, Loane; Aitken, MaryAnne; Halliday, Jane


    When an inherited genetic condition is diagnosed in an individual it has implications for other family members. Privacy legislation and ethical considerations can restrict health professionals from communicating directly with other family members, and so it is frequently the responsibility of the first person in a family to receive the diagnosis (the proband) to share this news. Communication of genetic information is challenging and many at-risk family members remain unaware of important information that may be relevant to their or their children's health. We conducted a randomised controlled trial in six public hospitals to assess whether a specifically designed telephone counselling intervention improved family communication about a new genetic diagnosis. Ninety-five probands/parents of probands were recruited from genetics clinics and randomised to the intervention or control group. The primary outcome measure was the difference between the proportion of at-risk relatives who contacted genetics services for information and/or genetic testing. Audit of the family genetic file after 18 months revealed that 25.6% of intervention group relatives compared with 20.9% of control group relatives made contact with genetic services (adjusted odds ratio (OR) 1.30, 95% confidence interval 0.70-2.42, P=0.40). Although no major difference was detected overall between the intervention and control groups, there was more contact in the intervention group where the genetic condition conferred a high risk to offspring (adjusted OR 24.0, 95% confidence interval 3.4-168.5, P=0.001). The increasing sophistication and scope of genetic testing makes it imperative for health professionals to consider additional ways of supporting families in communicating genetic information.

  16. Delayed mutation as a cause of retinoblastoma: application to genetic counseling. (United States)

    Herrmann, J


    The genealogic and genetic data on retinoblastoma were reviewed and interpreted according to the model of delayed mutation; then applications of the model to specific situations in genetic counseling were considered. Patients with multiple congenital abnormalities and systemic chromosome aberrations are regarded as belonging to a different category of retinoblastoma cases than the more common patients without such abnormalities. The model of delayed mutation is considered for the latter group of patients. According to the model, mutation at the retinoblastoma locus can be delayed or complete and can occur during meiotic or mitotic cell division. Genotypically, three clases of individuals can be identified in retinoblastoma families: homozygous normal, heterozygous for the premutated allele, and heterozygous for the (fully) mutated allele; the other possible combinations of individuals have apparently not been observed. There is to date no evidence to suggest incomplete penetrance of the mutant allele, but 14% of individuals who have the mutant gene are "only" unilaterally affected. Carriers produce normal, affected and carrier offspring in the empiric proportion of, respectively, 54.5%, 36.4% and 9.1%. Most difficulties in genetic counseling arise because affected individuals may have inherited the premutated or the mutated allele and because unaffected individuals may have inherited the normal or the premutated allele. These aspects were considered for individuals presenting as sporadic-unilateral, sporadic-bilateral, familial-unilateral and familial-bilateral cases, and the empiric risk figures for various situations were quoted from the literature.

  17. Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer

    NARCIS (Netherlands)

    Dekker, N.; Dorst, E.B. van; Luijt, R.B. van der; Gijn, M.E. van; Tuil, M. van; Offerhaus, J.A.; Ausems, M.G.E.M.


    Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering genetic counseli

  18. 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. (United States)

    Palmer, Christina G S; Boudreault, Patrick; Baldwin, Erin E; Sinsheimer, Janet S


    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.

  19. Genetic Counseling (United States)

    ... report card Careers Archives Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ... Last reviewed: November, 2016 Pregnancy Before or between pregnancies Nutrition, weight & fitness Prenatal care Is it safe? Labor & ...

  20. [Psychological and familial aspects of the familial breast and ovarian cancer genetic counseling process]. (United States)

    Flugelman, Anath; Rennert, Gad; Eidelman, Shmuel


    Breast cancer is the most prevalent malignancy among women, whilst ovarian cancer is less common but carries a graver prognosis. Carriers of the BRCA mutations have a few-fold higher risk for those diseases. Genetic counseling for the families at risk has been available for almost two decades, since the definition of the mutation. The existence of the deleterious mutation has implications beyond the individual level and touches the lives and future of many other family members. Being part of a BRCA family has medical as well as psychosocial implications. Various barriers and facilitators must be dealt with during the process of sharing the information with kins. Most families cope well with those issues, while some require the guidance of professionals. Special subpopulations, i.e. non-carrier women in BRCA families, young carriers and men who are under minimal personal threat but might transfer the mutation to their off springs, have special needs which should be addressed. The desired outcome of the counseling process is achievement of normal adaptation which balances life in the shadow of uncertainty and threat with the ability to lead a normal life. The process of counseling is multidisciplinary, and along with the advances in scientific and medical aspects, the ethical, legal and social implications (ELSI) have also been developed. The professional personnel escorting those families need to develop and maintain specific skills.

  1. Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience



    Methods and results: The main questions asked by patients and relatives concern presymptomatic diagnosis and prenatal counselling/diagnosis, while clinicians sometimes discuss diagnostic and prognostic testing. To take into account the complex medical and psychological implications of this new approach, we developed a specific, multidisciplinary, and multiple step procedure, including a cardiologist, a geneticist, and a psychologist. Seventy subjects were examined, including (1) 29 adults for...

  2. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. (United States)

    Mendes, Álvaro; Paneque, Milena; Sousa, Liliana; Clarke, Angus; Sequeiros, Jorge


    Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling.

  3. [Rare diseases: specific ethical and legal aspects of genetic counseling and screening]. (United States)

    Sánchez-Caro, Javier


    This article analyses the specific rights of patients with rare diseases from a dual perspective. On the one hand, they concern a new generation of patients' rights that arise once the consolidation of basic rights has occurred, fundamentally after the application of Law 41/2002 (on Regulating Patient Autonomy and Rights and Obligations in the Field of Health Documentation and Information) and its development by the autonomous communities. On the other hand, the fundamental question raises a serious issue related to these patients, which involves the principles of equality, equity, non-discrimination and solidarity. This is aimed at promoting legislative measures to protect patients' equality of access to health and social services, with the ultimate aim of improving their quality of life. The author has given special relevance in his study to the treatment of rare diseases that are genetic in origin, and to the importance of adequate genetic counseling.

  4. Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications. (United States)

    Guo, K M; Wu, B; Wang, H B; Tian, R H


    Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy counseled males, with polymorphisms being most common, followed by 47,XXY and balanced translocation. Follow-up of 170 carriers with normozoospermia, after 3 years, showed that 94.7% of the cases resulted in live births. In the carriers of polymorphisms, balanced translocation, inv(9), Robertsonian translocation, inversion, and 47,XYY, live birth rates were 96.8, 85.7, 100, 83.3, 75, and 100%, respectively. Follow-up of 54 carriers with oligozoospermia or azoospermia, after 3 years, showed that 14.8% of the cases resulted in live births. In the carriers of 47,XXY with severe oligozoospermia or azoospermia, 80 or 5.9% of the cases resulted in live births, respectively. Therefore, timely psychological support would be beneficial and multidisciplinary approach should be preferentially considered for the management of individuals with chromosomal abnormalities.

  5. Genetic counseling and presymptomatic testing programs for Machado-Joseph disease: lessons from Brazil and Portugal

    Directory of Open Access Journals (Sweden)

    Lavínia Schuler-Faccini


    Full Text Available Machado-Joseph disease (MJD is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre and Portugal (Porto. We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77% of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4% individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results, whereas 77% took the test in Portugal. In this case report, we highlight several issues that might be raised by the consultand and how the team can extract significant information. Literature about PST testing for MJD and other SCAs is scarce, and we hope this report will encourage similar studies and enable the implementation of PST protocols in other populations, mainly in Latin America.

  6. Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy. (United States)

    Kohn, Taylor P; Kohn, Jaden R; Darilek, Sandra; Ramasamy, Ranjith; Lipshultz, Larry


    The purpose of this study is to review recurrent pregnancy loss (RPL) due to sperm chromosomal abnormalities and discuss the genetic counseling that is required for men with sperm chromosomal abnormalities. The literature was reviewed, and a genetic counselor lends her expertise as to how couples with RPL and sperm chromosomal abnormalities ought to be counseled. The review of the literature was performed using MEDLINE. Sperm fluorescence in situ hybridization (FISH) can be used to determine if disomy or unbalanced chromosomal translocations are present. In men with aneuploidy in sperm or who carry a chromosomal translocation, pre-implantation genetic screening (PGS) combined with in vitro fertilization (IVF) and intra-cytoplasmic sperm injection (ICSI) can increase chances of live birth. In men with abnormal sperm FISH results, the degree of increased risk of abnormal pregnancy remains unclear. Genetic counselors can provide information to couples about the risk for potential trisomies and sex chromosome aneuploidies and discuss their reproductive and testing options such as PGS, use of donor sperm, and adoption. The provision of genetic counseling also allows a couple to be educated about recommended prenatal testing since pregnancies conceived with a partner who has had abnormal sperm FISH are considered to be at increased risk for aneuploidy. We review the literature and discuss genetic counseling for couples with RPL or recurrent implantation failure due to increased sperm aneuploidy.

  7. The use of a genetic-counselling program by Dutch breeders for four hereditary health problems in boxer dogs. (United States)

    van Hagen, Marjan A E; Janss, Luc L G; van den Broek, Jan; Knol, Bart W


    Our group developed a genetic-counselling program for boxer-dog breeders in The Netherlands, using data for cryptorchidism (uni- and/or bilateral), epilepsy, knee-problems (including ligament rupture, fractured or ruptured meniscus, severe osteo-arthrosis of the knee, or a combination of these disorders), and schisis (including cheiloschisis, palatoschisis, or cheilopalatoschisis). We transformed the estimated breeding values (EBVs) into odds ratios (ORs), to enable the breeder to compare the risk for each of the traits for a certain dam-sire combination with the average population risk (set at 1). The goal of the study was to evaluate the use of our genetic-counselling program by Dutch breeders of boxer dogs. We asked breeders of the Dutch Boxer Club to send in an application form for genetic-counselling from June 1 to December 1, 2000. Breeders indicated on this application form three desirable sires for their dam (sire 1, sire 2, sire 3) in random order. On the basis of this information, a counselling report was produced which included ORs for the four diseases in litters of the dam-sire combinations indicated on the application form. Together with the counselling report, the breeders received an evaluation form. We received 129 application forms from 70 breeders, and collected 125 evaluations. Of these evaluations, 96 were informative about the influence of the counselling report on sire choice. The most-important criteria used by breeders to select sires were: the exterior characteristics (60%) and known progeny (52%). Although it was the first time breeders could make use of genetic-counselling, 32% of the breeders indicated that the genetic-counselling played a major role in their sire selection. Breeders expressed little difference in importance for the four genetic traits, but there was a tendency to consider epilepsy more than the others. Breeders hesitated to put long-term population interest above short-term personal interest. Nevertheless, the general

  8. 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


    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

  9. 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, A.M. van; Velthuizen, M.E.; Riel, E. van; Ausems, M.G.E.M.


    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

  10. 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.


    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

  11. Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries. (United States)

    Tozzo, Pamela; Caenazzo, Luciana; Parker, Michael J


    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.

  12. 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.; Cronauer, C. Klockner; Ausems, M.G.; Dulmen, S. van


    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

  13. 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


    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

  14. 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


    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 coun

  15. 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.; Cronauer, C. Klockner; Ausems, M.G.; Dulmen, S. van


    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 cou

  16. Privacy and confidentiality measures in genetic testing and counselling: arguing on genetic exceptionalism again? (United States)

    Witt, Magdalena M; Witt, Michał P


    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.

  17. Genetic counseling for individuals with hemoglobin disorders and for their relatives: a systematic literature review

    Directory of Open Access Journals (Sweden)

    Tatiana Dela-Sávia Ferreira


    Full Text Available Objective: To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Method: Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. Results: A total of 409 articles were located, but only eight (1.9% were selected for analysis. Conclusion: Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it.

  18. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

    NARCIS (Netherlands)

    Sie, A.S.; Zelst-Stams, W.A.G. van; Spruijt, L.; Mensenkamp, A.R.; Ligtenberg, M.J.L.; Brunner, H.G.; Prins, J.B.; Hoogerbrugge, N.


    Currently, most breast cancer (BC) patients receive face-to-face genetic counseling (DNA-intake) prior to BRCA-mutation testing, with generic information regarding hereditary BC and BRCA-mutation testing. This prospective study evaluated a novel format: replacing the intake consultation with telepho

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

    Directory of Open Access Journals (Sweden)

    De Pina-Neto João M.


    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.

  20. Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome. (United States)

    Nielsen, Sarah M; Rhodes, Lindsay; Blanco, Ignacio; Chung, Wendy K; Eng, Charis; Maher, Eamonn R; Richard, Stéphane; Giles, Rachel H


    Von Hippel-Lindau disease (VHL) is one of the most common inherited neoplasia syndromes and is characterized by highly vascular tumors of the eyes, brain, and spine, as well as benign and malignant tumors and/or cysts of the kidneys, adrenal medullae and sympathetic paraganglia, endolymphatic sac, epididymis, and broad ligament. Since the discovery of the VHL gene in 1993, more than 900 families with VHL have been identified and examined. Genetic testing for VHL is widely available and will detect a disease-causing mutation in rate 95% to 100% of individuals who have a clinical diagnosis of VHL, making it the standard of care for diagnosis of VHL. Furthermore, genetic testing for VHL is indicated in some individuals with seemingly sporadic VHL-related tumor types, as ≤ 10% of pheochromocytoma or early-onset renal cell carcinoma and ≤ 40% of CNS hemangioblastoma harbor germline VHL mutations without a family history or additional features of VHL disease. The majority of VHL mutations are private, but there are also well-characterized founder mutations. VHL is a complex, multiorgan disease that spans the breadth of oncology subspecialties, and, as such, providers in these subspecialties should be aware of when to consider a diagnosis of VHL, when to refer a patient to a genetics specialist for consideration of gene testing, and, perhaps most importantly, how to communicate this sensitive information in an age-appropriate manner to at-risk families. This review will provide state-of-the-art information regarding the genetics of VHL and will serve as a key reference for nongenetics professionals who encounter patients with VHL.

  1. Categories of Counselors'Verbal Responses During the First Counseling Session%首次咨询中心理咨询师的言语反应类型

    Institute of Scientific and Technical Information of China (English)

    贾晓明; 师思; 周玥


    本研究旨在探索心理咨询师在首次咨询中言语反应类型。研究选择4位在高校从事心理咨询的咨询师作为研究对象,对首次咨询录像进行文本分析。结果:咨询师在首次咨询中的言语反应类型按反应功能和效果分为设置性反应、倾听性反应、跟进性反应和影响性反应;4种反应类型共由25种子类别组成;不同咨询师在首次咨询中均使用了4种反应类型。结论:持续使用倾听性反应有利于后续咨询的维持;影响性反应的过度使用导致首次咨询后来访者易脱落。%The current research aimed to explore the categories of counselors" verbal responses during the first counseling session, es- pocially the characteristics of the counselors" verbal responses in Chinese culture. The research was a qualitative study based on the discovery -oriented psychotherapy research developed by Mahrer (1992). We collected first - session videotapes of four counselors at a university counseling service. All counselors were female and obtained their masters degrees in counseling psychology. Their mean age was 28 years old, from 24.5 to 31.5, and their counseling experience ranged from 2.5 to 5.5 years. The clients were freshmen and sophomores ( three males and one female). In this study, we conducted an explo- ration of category analysis. Prior to categorizing, typed transcriptions of the four sessions were divided into 241 response units. After coding these response units, we obtained 25 concept categories. Based on their functions, types and the circumstances in which they were used, the concept categories were classified into four core categories, which were a classification and coding system of counselors ~ verbal responses in Chinese culture constructed by this research. In addition, each session was split into three parts according to time (the initial 15 minutes, middle 20 minutes, and the last 15 minutes). Then, we analyzed the changes of the four

  2. Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings. (United States)

    Cook, Lola; Schulze, Jeanine


    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.

  3. Traditional roles in a non-traditional setting: genetic counseling in precision oncology. (United States)

    Everett, Jessica N; Gustafson, Shanna L; Raymond, Victoria M


    Next generation sequencing technology is increasingly utilized in oncology with the goal of targeting therapeutics to improve response and reduce side effects. Interpretation of tumor mutations requires sequencing of paired germline DNA, raising questions about incidental germline findings. We describe our experiences as part of a research team implementing a protocol for whole genome sequencing (WGS) of tumors and paired germline DNA known as the Michigan Oncology Sequencing project (MI-ONCOSEQ) that includes options for receiving incidental germline findings. Genetic counselors (GCs) discuss options for return of results with patients during the informed consent process and document family histories. GCs also review germline findings and actively participate in the multi-disciplinary Precision Medicine Tumor Board (PMTB), providing clinical context for interpretation of germline results and making recommendations about disclosure of germline findings. GCs have encountered ethical and counseling challenges with participants, described here. Although GCs have not been traditionally involved in molecular testing of tumors, our experiences with MI-ONCOSEQ demonstrate that GCs have important applicable skills to contribute to multi-disciplinary care teams implementing precision oncology. Broader use of WGS in oncology treatment decision making and American College of Medical Genetics and Genomics (ACMG) recommendations for active interrogation of germline tissue in tumor-normal dyads suggests that GCs will have future opportunities in this area outside of research settings.

  4. Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling. (United States)

    Zhang, H G; Zhang, X Y; Zhang, H Y; Tian, T; Xu, S B; Liu, R Z


    Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases. Of the 16 detected cases of fetal reciprocal translocation, 8 cases (50%) showed positive biochemical marker screening; 3 cases (18.75%) were the parental carriers of a chromosomal abnormality; 2 (12.5%) were of advanced maternal age, 2 (12.5%) had a previous history of children with genetic disorders, and 1 case (6.25%) was associated with positive soft markers in obstetric ultrasound. Chromosomes 5 and 19 were the most commonly involved chromosomes in balanced translocations. Of the 13 cases with fetal balanced translocations, 8 (61.5%) were inherited from a paternal chromosome, 3 (23.1%) from a maternal chromosome, and 2 (15.4%) cases were de novo. The incidence of balanced translocation at amniocentesis was 0.42%. Male carriers of reciprocal chromosome translocation appear to have a higher chance of becoming a parent of a child born by normal childbirth than female carriers.

  5. Preliminary Study on Thalassemia Screening and Genetic Counseling in Selective Hmong People in Saraburi Province, Thailand

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    Pa Vang


    Full Text Available it can lead to the destruction of red blood cells. Studies have shown that there is a high prevalence of thalassemia in Southeast Asia. The Institute of Health Research, Chulalongkorn University developed a successful “Module” to screen for thalassemia in the Thai population, however, it has not been implemented in the minority population in Thailand. In this study, we investigated the feasibility of the newly developed educational and thalassemia screening program with the Hmong population. The primary aim of this study was to test this program. The secondary aim was to determine the prevalence of thalassemia in the Hmong and provide education. A third aim was to determine the reliability of two different screening methods in the Hmong population. A pre-test and post-test design was used; participants (N=12 were individuals residing in Thailand with the ability to read English and between the ages 18-50. The participants met twice with the researchers to complete the program. The first contact consisted of assessing participants’ knowledge about thalassemia, providing thalassemia information and education about genetic counseling, and drawing blood samples. The second contact consisted of assessing knowledge, providing a written report of individual blood sample results and counseling. The initial interview revealed that the majority of the participants (82% did not know anything about thalassemia prior to participation. The program was easy to understand by most participants (90%. Of the eleven Hmong participants, two tested positive for being a possible carrier for thalassemia. In order to reduce the prevalence of thalassemia, it is necessary to engage in risk reduction health services. The modified screening method proved to be as effective as the standard method. Therefore, the program can expand and be used in other regional populations with low cost.

  6. Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling. (United States)

    Nguyen, Ngoc Minh Phuong; Slim, Rima


    Gestational trophoblastic disease (GTD) is a group of conditions that originate from the abnormal hyperproliferation of trophoblastic cells, which derive from the trophectoderm, the outer layer of the blastocyst that would normally develop into the placenta during pregnancy. GTDs encompass hydatidiform mole (HM) (complete and partial), invasive mole, gestational choriocarcinoma, placental-site trophoblastic tumor, and epithelioid trophoblastic tumor. Of these, the most common is HM, and it is the only one that has been reported to recur in the same patients from independent pregnancies, which indicates the patients' genetic predisposition. In addition, HM is the only GTD that segregates in families according to Mendel's laws of heredity, which made it possible to use rare familial cases of recurrent HMs (RHMs) to identify two maternal-effect genes, NLRP7 and KHDC3L, responsible for this condition. Here, we recapitulate current knowledge about RHMs and conclude with the role and benefits of testing patients for mutations in the known genes.

  7. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. (United States)

    Goldman, Jill S; Hahn, Susan E; Catania, Jennifer Williamson; LaRusse-Eckert, Susan; Butson, Melissa Barber; Rumbaugh, Malia; Strecker, Michelle N; Roberts, J Scott; Burke, Wylie; Mayeux, Richard; Bird, Thomas


    Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.

  8. Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools. (United States)

    Paneque, M; Mendes, Á; Guimarães, L; Sequeiros, J; Skirton, H


    Quality assessment of genetic counseling practice for improving healthcare is a challenge for genetic services worldwide; however, there is scarce literature regarding quality issues in genetic counseling in the context of presymptomatic testing for late-onset neurological diseases (Paneque et al. 2012) The aims of this qualitative study were to: (1) explore the views of professionals' who provide genetic counseling services for presymptomatic testing for late-onset neurological diseases regarding relevant quality indicators for counseling practice; and (2) examine current assessment of such counseling practice for Portuguese genetic services. Quality indicators are a means of measuring either the process or outcomes of patient services, with the aim of evaluating and improving quality of care (Mainz 2003). In this study, we defined quality indicators as measurable outcomes of the counseling process that may reflect good professional practice and desirable end-term effects. We undertook interviews with 18 genetic health professionals (85 % of all genetic counseling professionals involved) from the major genetic services in Portugal. Results indicate that professionals valued some core components of genetic counseling, including providing information and decision-making support, informing the consultand about the genetic counseling protocol, as well as exploring motivations, expectations for test results, consequent anticipated life changes, psychosocial adjustment, and personal and familial experience with the disease. Professionals were not, however, able to clearly elucidate quality indicators for effective practice and some reported they had not reflected on that topic before. Professionals also reported specific challenges in their practice, such as ambiguity of the health/illness status and affirming consultands' autonomy. Results of the study have revealed a lack of knowledge about quality indicators and tools to assess counseling practice. A credible set of

  9. The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory. (United States)

    Nishiyama, Miyuki; Sawai, Hideaki; Kosugi, Shinji


    Pregnant women undergoing prenatal genetic testing should receive genetic counseling so they can make informed decisions. We examined the current state of providing genetic counseling in Japan to pregnant women before they elected amniocentesis for prenatal diagnosis of chromosome abnormalities and after test results were completed, and explored the opportunity for expanding access to certified genetic counselors (CGC) at clinical practices offering amniocentesis. An anonymous survey was mailed to the 298 hospitals that referred amniotic fluid specimens to LabCorp Japan in 2009. Most genetic counseling was provided by the obstetrician alone; 73.8 % (76/103) of pre-amniocentesis, 82.5 % (85/103) if normal results, and 49.4 % (44/89) if abnormal results. Respondents spent limited time in genetic counseling; 57.3 % spent amniocentesis, 88.3 % spent <10 min for normal results, and 54.0 % spent <20 min for abnormal results. While 45.8 % indicated that CGC do not have an essential role in clinical practice, responses that supported employment of CGC were more likely to come from hospitals that submitted more than ten specimens annually (p < 0.0001), university hospitals (p < 0.0001), and MD geneticists (p = 0.020). Currently, there is limited genetic counseling available in Japan. This indicates there are opportunities for the employment of CGC to improve the quality of genetic counseling.

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

    NARCIS (Netherlands)

    W. Eijzenga; N.K. Aaronson; I. Kluijt; G.N. Sidharta; D.E.E. Hahn; M.G.E.M. Ausems; E.M.A. Bleiker


    Background: 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 u


    Directory of Open Access Journals (Sweden)

    Ravindra Kumar


    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.

  12. Genetic Heterogeneity of Beta Globin Mutations among Asian-Indians and Importance in Genetic Counselling and Diagnosis. (United States)

    Kumar, Ravindra; Singh, Kritanjali; Panigrahi, Inusha; Agarwal, Sarita


    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. Thalassemia major constitutes a significant burden on the health care system. The burden of thalassemia major can be decreased by premarital screening and prenatal diagnosis. The success of prenatal diagnosis requires proper knowledge of spectrum of β-thalassemia mutations. 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 78.9% 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 in all the communities, 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.

  13. Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. (United States)

    Rana, Huma Q; Balwani, Manisha; Bier, Louise; Alcalay, Roy N


    We sought to estimate age-specific risk of Parkinson disease in relatives of patients with Gaucher disease, who are obligate carriers of GBA mutations and who were not ascertained by family history of Parkinson disease. A validated family history of Parkinson disease questionnaire was administered to 119 patients with Gaucher disease who were evaluated at the Mount Sinai School of Medicine from 2009 to 2012; the ages of their parents, siblings, and children, history of Parkinson disease, age at onset of Parkinson disease, and ethnic background were obtained. Kaplan-Meier survival curves were used to estimate age-specific Parkinson disease penetrance among parents of patients with Gaucher disease, who are obligatory GBA mutation carriers. Two participants with Gaucher disease were affected by Parkinson disease (5.4% of those who were 60 years or older). Of the 224 informative parents of patients with Gaucher disease, 11 had Parkinson disease (4.9%). Among the parents (obligatory carriers), cumulative risk of Parkinson disease by ages 65 and 85 was estimated to be 2.2% ±2.1% and 10.9% ±7.2%, respectively. We provide useful age-specific estimates of Parkinson disease penetrance in patients with Gaucher disease and GBA heterozygous carriers for genetic counseling. Although GBA mutations may increase the risk for PD, the vast majority of patients with Gaucher disease and heterozygotes may not develop the disease. Further studies are needed to identify what modifies the risk of Parkinson disease in GBA mutation carriers.

  14. Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling

    Directory of Open Access Journals (Sweden)

    Lucena Evandro


    Full Text Available Abstract Background The purpose of this study was to identify mutations associated with bilateral retinoblastoma in a quadruplet conceived by in vitro fertilization, and to trace the parental origin of mutations in the four quadruplets and their father. Methods Mutational screening was carried out by sequencing. Genotyping was carried out for determining quadruplet zygosity. Results The proband was a carrier of a novel RB1 constitutive mutation (g.2056C>G which was not detected in her father or her unaffected sisters, and of two other mutations (g.39606 C>T and g.174351T>A also present in two monozygotic sisters. The novel mutation probably occurred de novo while the others were of likely maternal origin. The novel mutation, affecting the Kozak consensus at the 5'UTR of RB1 and g.174351T>A were likely associated to retinoblastoma in the proband. Conclusion Molecular diagnosis of retinoblastoma requires genotypic data of the family for determining hereditary transmission. In the case of children generated by IVF with oocytes from an anonymous donor which had been stored in a cell repository, this might not be successfully accomplished, making precise diagnosis impracticable for genetic counseling.

  15. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

    National Research Council Canada - National Science Library

    Memish, Ziad Ahmed; Saeedi, Mohammad Y


    Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and β...

  16. Rapporteur summaries of plenary, symposia, and oral sessions from the XXIIIrd World Congress of Psychiatric Genetics Meeting in Toronto, Canada, 16-20 October 2015. (United States)

    Zai, Gwyneth; Alberry, Bonnie; Arloth, Janine; Bánlaki, Zsófia; Bares, Cristina; Boot, Erik; Camilo, Caroline; Chadha, Kartikay; Chen, Qi; Cole, Christopher B; Cost, Katherine T; Crow, Megan; Ekpor, Ibene; Fischer, Sascha B; Flatau, Laura; Gagliano, Sarah; Kirli, Umut; Kukshal, Prachi; Labrie, Viviane; Lang, Maren; Lett, Tristram A; Maffioletti, Elisabetta; Maier, Robert; Mihaljevic, Marina; Mittal, Kirti; Monson, Eric T; O'Brien, Niamh L; Østergaard, Søren D; Ovenden, Ellen; Patel, Sejal; Peterson, Roseann E; Pouget, Jennie G; Rovaris, Diego L; Seaman, Lauren; Shankarappa, Bhagya; Tsetsos, Fotis; Vereczkei, Andrea; Wang, Chenyao; Xulu, Khethelo; Yuen, Ryan K C; Zhao, Jingjing; Zai, Clement C; Kennedy, James L


    The XXIIIrd World Congress of Psychiatric Genetics meeting, sponsored by the International Society of Psychiatric Genetics, was held in Toronto, ON, Canada, on 16-20 October 2015. Approximately 700 participants attended to discuss the latest state-of-the-art findings in this rapidly advancing and evolving field. The following report was written by trainee travel awardees. Each was assigned one session as a rapporteur. This manuscript represents the highlights and topics that were covered in the plenary sessions, symposia, and oral sessions during the conference, and contains major notable and new findings.

  17. Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. (United States)

    Houeijeh, Ali; Andrieux, Joris; Saugier-Veber, Pascale; David, Albert; Goldenberg, Alice; Bonneau, Dominique; Fouassier, Marc; Journel, Hubert; Martinovic, Jelana; Escande, Fabienne; Devisme, Louise; Bisiaux, Sophie; Chaffiotte, Caroline; Baux, Mathilde; Kerckaert, Jean-Pierre; Holder-Espinasse, Muriel; Manouvrier-Hanu, Sylvie


    Thrombocytopenia-absent radius Syndrome (TAR) is a rare congenital malformation syndrome of complicated transmission. 1q21.1 deletion is necessary but not sufficient for its expression. We report the result of a French multicentric clinical study, and we emphasized on the role of the associated 1q21.1 deletion in the diagnosis and the genetic counselling of our patients. We gathered information on 14 patients presenting with TAR syndrome and referred for genetic counselling in six different university hospitals (8 foetuses, 1 child and 5 adults). Clinical or pathology details, as well as skeletal X-rays were analyzed. Genetic studies were performed by Array-CGH, and Quantitative Multiplex PCR. We demonstrated the very variable phenotypes of TAR syndrome. Female:male ratio was ∼2:1. All patients presented with bilateral radial aplasia/hypoplasia with preserved thumbs. Phocomelia and lower limb anomalies were present in 28% of the cases. We reported the first case of cystic hygroma on affected foetus. 1q21.1 deletions ranging from 330 to 1100 kb were identified in all affected patients. Most of them were inherited from one healthy parent (80%). The identification of a 1q21.1 deletion allowed confirmation of TAR syndrome diagnosis, particularly in foetuses and in atypical phenotypes. Additionally, it allowed accurate genetic counselling, especially when it occurred de novo. These findings allowed discussing the diagnostic criteria and management towards TAR syndrome.

  18. A case-based approach to the development of practice-based competencies for accreditation of and training in graduate programs in genetic counseling. (United States)

    Fiddler, M B; Fine, B A; Baker, D L


    The American Board of Genetic Counseling (ABGC) sponsored a consensus development conference with participation from directors of graduate programs in genetic counseling, board members, and expert consultants. Using a collective, narrative, and case-based approach, 27 competencies were identified as embedded in the practice of genetic counseling. These competencies were organized into four domains of skills: Communication; Critical Thinking; Interpersonal, Counseling, and Psychosocial Assessment; and Professional Ethics and Values. The adoption of a competency framework for accreditation has a variety of implications for curriculum design and implementation. We report here the process by which a set of practice-based genetic counseling competencies have been derived; and in an accompanying article, the competencies themselves are provided. We also discuss the application of the competencies to graduate program accreditation as well as some of the implications competency-based standards may have for education and the genetic counseling profession. These guidelines may also serve as a basis for the continuing education of practicing genetic counselors and a performance evaluation tool in the workplace.

  19. Premarital Screening and Genetic Counseling program: knowledge, attitude, and satisfaction of attendees of governmental outpatient clinics in Jeddah. (United States)

    Ibrahim, Nahla Khamis; Bashawri, Jamel; Al Bar, Hussein; Al Ahmadi, Jawaher; Al Bar, Adnan; Qadi, Mahdi; Milaat, Waleed; Feda, Hashim


    Premarital care (PMC) is a worldwide activity that aims to diagnose and treat unrecognized disorders and reduce the transmission of diseases to couples and children. To assess the knowledge and attitude of individuals attending governmental outpatient clinics regarding the Premarital Screening and Genetic Counseling (PMSGC) programs, to identify predictors of high knowledge scores and to determine the satisfaction and recommendations of clients of the program. A cross-sectional study was conducted from January to April 2009. Individuals who attended three governmental hospital outpatient clinics on the day of the interview and agreed to participate in the study were recruited. The three hospitals were the two hospitals in Jeddah that offer the PMSGC programs and the King Abdulaziz University Hospital. Ethical considerations were followed and data were collected through an interview questionnaire that had been constructed for the study. The questionnaire asked for personal and socio-demographic data and for responses, on a 5-point Likert scale, to 30 knowledge items and 14 attitude statements. Individuals who participated in the PMSGC program were asked questions regarding the services and activities of the program to ascertain their satisfaction with the program and their recommendations for program improvement. The statistical analysis was performed using SPSS version 16 (SPSS Inc., Chicago, IL). The sample included 655 participants, of whom 38.8% completed the PMSGC program. The participants' knowledge about the program was generally low. Education was the first predictor of a high knowledge score; individuals having ≥ university degree obtained a higher score (aOR=2.73; 95% CI: 1.77-4.20). The second predictor was the nationality of the participants, with Saudis gaining a higher score (aOR=2.04; 95% CI: 1.002-4.16). The third predictor was monthly income. Regarding attitudes, the vast majority of participants (96.0%) strongly agreed on the importance of the

  20. Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective. (United States)

    Darr, A; Small, N; Ahmad, W I U; Atkin, K; Corry, P; Benson, J; Morton, R; Modell, B


    WHO advice suggests a family-centred approach for managing the elevated risk of recessively inherited disorders in consanguineous communities, whilst emerging policy recommends community engagement as an integral component of genetic service development. This paper explores the feasibility of the family-centred approach in the UK Pakistani origin community. The study took place within a context of debate in the media, professional and lay circles about cousin marriage causing disability in children. Using qualitative methods, a total of six single-sex focus group discussions (n = 50) were conducted in three UK cities with a high settlement of people of Pakistani origin. Tape-recorded transcripts were analysed using framework analysis. Kinship networks within Pakistani origin communities are being sustained and marriage between close blood relatives continues to take place alongside other marriage options. Study participants were critical of what was perceived as a prevalent notion that cousin marriage causes disability in children. They were willing to discuss cousin marriage and disability, share genetic information and engage with genetic issues. A desire for accurate information and a public informed about genetic issues was articulated whilst ineffective communication of genetic risk information undermined professionals in their support role. This study suggests a community that is embracing change, one in which kinship networks are still active and genetic information exchange is taking place. At the community level, these are conditions supportive of the family-centred approach to genetic testing and counselling.

  1. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. (United States)

    Tachdjian, Gérard; Frydman, Nelly; Morichon-Delvallez, Nicole; Dû, Anne Le; Fanchin, Renato; Vekemans, Michel; Frydman, René


    With an incidence of approximately 1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution.

  2. 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.


    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

  3. DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

    NARCIS (Netherlands)

    Sie, A.S.; Spruijt, L.; Zelst-Stams, W.A. van; Mensenkamp, A.R.; Ligtenberg, M.J.L.; Brunner, H.G.; Prins, J.B.; Hoogerbrugge-van der Linden, N.


    BACKGROUND: Current practice for patients with breast cancer referred for genetic counseling, includes face-to-face consultations with a genetic counselor prior to and following DNA-testing. This is based on guidelines regarding Huntington's disease in anticipation of high psychosocial impact of DNA

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

    NARCIS (Netherlands)

    Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.


    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 p

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

    NARCIS (Netherlands)

    Martin, L.; Dulmen, S. van; Spelten, E.; Hutton, E.


    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

  6. Genomic counseling: next generation counseling. (United States)

    Mills, Rachel; Haga, Susanne B


    Personalized medicine continues to expand with the development and increasing use of genome-based testing. While these advances present new opportunities for diagnosis and risk assessment, they also present challenges to clinical delivery. Genetic counselors will play an important role in ushering in this new era of testing; however, it will warrant a shift from traditional genetic counseling to "genomic counseling." This shift will be marked by a move from reactive genetic testing for diagnosis of primarily single-gene diseases to proactive genome-based testing for multiple complex diseases for the purpose of disease prevention. It will also require discussion of risk information for a number of diseases, some of which may have low relative risks or weak associations, and thus, may not substantially impact clinical care. Additionally, genomic counselors will expand their roles, particularly in the area of health promotion to reduce disease risk. This additional role will require a style of counseling that is more directive than traditional counseling and require greater knowledge about risk reducing behaviors and disease screening.

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

    Kentenich, H; Tandler-Schneider, A


    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.

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

    Directory of Open Access Journals (Sweden)

    Antonio Sérgio Ramalho


    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.

  9. 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. (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


    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

  10. Changes of Socio-demographic data of clients seeking genetic counseling for hereditary breast and ovarian cancer due to the "Angelina Jolie Effect". (United States)

    Staudigl, Christine; Pfeiler, Georg; Hrauda, Katharina; Renz, Romana; Berger, Andreas; Lichtenschopf, Renate; Singer, Christian F; Tea, Muy-Kheng M


    The purpose of this study was to evaluate socio-demographic characteristics of clients claiming genetic counseling for hereditary breast and ovarian cancer (HBOC) in Austria. Furthermore, changes of these parameters before and after Angelina Jolie's (AJ) disclosure of carrying a BRCA mutation were evaluated. In this prospective, nonrandomized study 268 consecutive clients seeking genetic counseling for HBOC at the Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna, Austria between June 2012 and June 2014 were included. Socio-demographic data and source of information about HBOC and genetic counseling were evaluated. First, socio-demographic parameters were compared to the general Austrian population. Second, changes in these parameters after AJ's public disclosure of carrying a BRCA mutation were analyzed. Subjects were more frequent female, younger and higher educated in comparison to Austria's general population (p < 0.001). Furthermore, level of education in participants was higher before than after AJ's disclosure (p = 0.046). Most clients were informed about genetic counseling by physicians. As expected, after AJ's public announcement patients were more frequent advised to genetic counseling by social media (p = 0.043) and family or friends (p = 0.010) than before. In this present study we could demonstrate that particularly younger and female participants with high educational level attended significantly more often genetic counseling for HBOC. Increased presence of HBOC in media since AJ's disclosure of carrying a BRCA mutation had lead that information and awareness about HBOC was obtained by a wider audience from different social background.

  11. 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)


    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.

  12. Clinical characteristics of men with non-mosaic Klinefelter syndrome in northeastern China: implications for genetic counseling. (United States)

    Zhang, M; Fan, H-T; Zheng, H-S; Zhang, Q-S; Feng, S-Q; Li, R-W


    Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial. Androgenotherapy, a common treatment for KS, carries a risk of decreasing focal spermatogenesis by lowering the gonadotropin content. Inadequately treated hypogonadism increases psychosocial morbidity in KS patients. Preventive care must be provided from the time of diagnosis, preferentially through a multidisciplinary approach. This indicates the need for improved genetic counseling of KS patients. The aim of this study was to report the prevalence of non-mosaic KS in a Chinese infertile male population. The rate of early diagnosis was lower in KS patients; most of these were diagnosed after rising concerns of reproductive capacity. The mean age of patients with sperm or germ cells was significantly lower, while the semen volume of these patients was significantly higher. However, the semen volume was negatively correlated with the age and ratio of luteinizing hormone/testosterone content in KS patients. Therefore, genetic counseling of KS patients should focus on early diagnosis and timely treatment, in addition to improving the quality of life of all KS patients. The use of testosterone replacement therapy and/ or micro-dissection testicular sperm extraction should be preferentially considered for fertility preservation.

  13. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. (United States)

    Sie, Aisha S; van Zelst-Stams, Wendy A G; Spruijt, Liesbeth; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J L; Brunner, Han G; Prins, Judith B; Hoogerbrugge, Nicoline


    Currently, most breast cancer (BC) patients receive face-to-face genetic counseling (DNA-intake) prior to BRCA-mutation testing, with generic information regarding hereditary BC and BRCA-mutation testing. This prospective study evaluated a novel format: replacing the intake consultation with telephone, written and digital information sent home, and face-to-face contact following BRCA-mutation testing (DNA-direct). From August 2011 to February 2012, 161 of 233 eligible BC patients referred to our Human Genetics department chose between DNA-direct (intervention) or DNA-intake (control). Exclusion criteria were psychological problems (n = 33), difficulty with Dutch text (n = 5), known BRCA-family (n = 3), non-BRCA-referral (n = 1). 30 declined genetic counseling or study participation. Participants received questionnaires including satisfaction and psychological distress. 59 % chose DNA-direct (p = 0.03), of whom 90 % were satisfied and would choose DNA-direct again (including 6/8 BRCA-mutation carriers); although 27 % hesitated to recommend DNA-direct to other patients. General distress (GHQ-12, p = 0.001) and heredity-specific distress (IES, p = 0.02) scored lower in DNA-direct than DNA-intake, both at baseline and follow-up 2 weeks after BRCA-result disclosure; all scores remained below clinical relevance. DNA-direct participants reported higher website use (53 vs. 32 %, p = 0.01), more referrer information about personal consequences (41 vs. 20 %, p = 0.004) and lower decisional conflict (median 20 [0-88] vs. 25 [0-50], p = 0.01). Processing time in DNA-direct was reduced by 1 month. Mutation detection rate was 8 % in both groups. All BRCA-mutation carriers fulfilled current testing criteria. In conclusion, more BC patients preferred DNA-direct over intake consultation prior to BRCA-mutation testing, the majority being strongly to moderately satisfied with the procedure followed, without increased distress.

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

    Pasick, Rena J; Joseph, Galen; Stewart, Susan; Kaplan, Celia; Lee, Robin; Luce, Judith; Davis, Sharon; Marquez, Titas; Nguyen, Tung; Guerra, Claudia


    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.

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

    Redlinger-Grosse, Krista; Veach, Patricia McCarthy; MacFarlane, Ian M


    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 < .001). Types of 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.

  16. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. (United States)

    Eggermann, Thomas; Brioude, Frédéric; Russo, Silvia; Lombardi, Maria P; Bliek, Jet; Maher, Eamonn R; Larizza, Lidia; Prawitt, Dirk; Netchine, Irène; Gonzales, Marie; Grønskov, Karen; Tümer, Zeynep; Monk, David; Mannens, Marcel; Chrzanowska, Krystyna; Walasek, Malgorzata K; Begemann, Matthias; Soellner, Lukas; Eggermann, Katja; Tenorio, Jair; Nevado, Julián; Moore, Gudrun E; Mackay, Deborah Jg; Temple, Karen; Gillessen-Kaesbach, Gabriele; Ogata, Tsutomu; Weksberg, Rosanna; Algar, Elizabeth; Lapunzina, Pablo


    Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (;, put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.

  17. Implications of conflicting definitions of probability to health risk communication: a case study of familial cancer and genetic counselling. (United States)

    O'Doherty, Kieran C


    The question of what probability actually is has long been debated in philosophy and statistics. Although the concept of probability is fundamental to many applications in the health sciences, these debates are generally not well known to health professionals. This paper begins with an outline of some of the different interpretations of probability. Examples are provided of how each interpretation manifests in clinical practice. The discipline of genetic counselling (familial cancer) is used to ground the discussion. In the second part of the paper, some of the implications that different interpretations of probability may have in practice are examined. The main purpose of the paper is to draw attention to the fact that there is much contention as to the nature of the concept of probability. In practice, this creates the potential for ambiguity and confusion. This paper constitutes a call for deeper engagement with the ways in which probability and risk are understood in health research and practice.

  18. 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.


    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. Thi

  19. Cultural Concerns when Counseling Orthodox Jewish Couples for Genetic Screening and PGD. (United States)

    Grazi, Richard V; Wolowelsky, Joel B


    There is a spectrum of attitudes within the Orthodox Jewish community towards genetic testing and PGD. Increased understanding of the belief systems of the Orthodox Jewish population will enhance the genetic counselors' ability to better serve this unique group of patients. By improving cultural competence, genetic counselors can help patients choose the testing options that they deem appropriate, while simultaneously respecting the patient's belief system.

  20. Pre-marital screening for sickle cell haemoglobin and genetic counseling: awareness and acceptability among undergraduate students of a Nigerian University


    Ugwu N.I.


    Background: Sickle cell disease (SCD) is a genetic disease which is more prevalent in developing countries. Pre-marital screening for sickle cell disorder is helpful in the prevention and control of the condition. Aim: The aim of this study was to assess the level of awareness and acceptability of premarital genetic counseling and screening for sickle cell haemoglobin among undergraduate students of Ebonyi State University Abakaliki, South eastern, Nigeria. Methods: A cross-sectio...

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

    NARCIS (Netherlands)

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V.; van Langen, Irene M.


    Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas,

  2. Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice



    Huntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic tests were performed: 234 for diagnosis, 96 for presymptomatic and four for prenat...

  3. Summaries of plenary and selected symposia sessions at the XXIV World Congress of Psychiatric Genetics; Jerusalem, Israel; 30 October 2016-3 November 2016. (United States)

    Ciobanu, Liliana G; Ori, Anil P S; Pagliaroli, Luca; Polimanti, Renato; Spindola, Leticia M; Vincent, John B; Cormack, Freida K


    The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Jerusalem, Israel, from 30 October 2016 to 3 November 2016. A total of 372 participants gathered to discuss the latest findings in the field. The following report was written by early career investigator travel awardees, and student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the presentations during the conference, and contains some of the major notable new findings reported.

  4. Allegories and Symbols in Counseling (United States)

    Alvarado, Victor I.; Cavazos, Lionel J.


    This manuscript describes how counselors can facilitate self-awareness in clients and counselors-in-training through the use of metaphors. The use of metaphors and others symbols provide a creative, non-intrusive, and non-confrontational approach to counseling. Examples of stories and fables used during counseling sessions and instructional…

  5. Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

    Directory of Open Access Journals (Sweden)

    Akiko Takashima


    Full Text Available A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9(p24. Chromosomal microarray analysis (CMA is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

  6. Genetic counseling for young adults who have a congenital heart defect. (United States)

    Whittemore, R


    Early individual guidance is needed for all adolescents and young adults with congenital heart defects. This should include not only a personal interest in the individual but also an attempt to identify concerns about sex education, smoking, drugs and the risks of pregnancy and possible inheritance. In a prospective study of 252 women with various cardiac malformations, the incidence of congenital heart defects in their progeny was 15.7% (13% exclusive of genetic syndromes and those with a positive family history). In those with a positive family history or a genetic syndrome the incidence was 56% in the offspring. Genetic syndromes with cardiac components are increasingly apparent. The role of teratogens such as medications, illicit drugs, and environmental exposure play a not yet clearly defined role. Careful discussion with potential parents, giving facts but with a positive approach, is an obligation of every physician.

  7. Impact of Genetic Counseling in Women with a Family History of Breast Cancer in Italy. (United States)

    Godino, Lea; Razzaboni, Elisabetta; Bianconi, Margherita; Turchetti, Daniela


    As the impact of breast cancer (BC) risk assessment in asymptomatic women with a family history of BC had never been explored in Italy, we performed a study on a retrospective series of women who had undergone BC risk assessment. To this aim, a semi-structured telephone interview was administered to 82 women. Most participants considered the information received as clear (96.2 %) and helpful (76.8 %). Thirty-eight (46.3 %) stated that their perceived risk of BC had changed after the counseling: for 40.2 % it had decreased, for 6.1 % increased; however, women highly overestimating their risk at the baseline (≥ 4-fold) failed to show improvements in risk perception accuracy. Sixty-six women (80.5 %) stated they had followed the recommended surveillance, while 19.5 % had not, mainly due to difficulties in arranging examinations. Most women (89.0 %) had shared the information with their relatives, with 57.3 % reporting other family members had undertaken the recommended surveillance. BC risk assessment was associated with high rates of satisfaction and had a favorable impact on risk perception in a subgroup of women. The impact on surveillance adhesion extended to relatives. Organized programs for identification and surveillance may help identify a larger fraction of at-risk women and overcome the reported difficulties in arranging surveillance.

  8. COUNSELING PRACTICES. (United States)



  9. Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes. (United States)

    Wu, R Ryanne; Myers, Rachel A; Hauser, Elizabeth R; Vorderstrasse, Allison; Cho, Alex; Ginsburg, Geoffrey S; Orlando, Lori A


    Family health history (FHH) in the context of risk assessment has been shown to positively impact risk perception and behavior change. The added value of genetic risk testing is less certain. The aim of this study was to determine the impact of Type 2 Diabetes (T2D) FHH and genetic risk counseling on behavior and its cognitive precursors. Subjects were non-diabetic patients randomized to counseling that included FHH +/- T2D genetic testing. Measurements included weight, BMI, fasting glucose at baseline and 12 months and behavioral and cognitive precursor (T2D risk perception and control over disease development) surveys at baseline, 3, and 12 months. 391 subjects enrolled of which 312 completed the study. Behavioral and clinical outcomes did not differ across FHH or genetic risk but cognitive precursors did. Higher FHH risk was associated with a stronger perceived T2D risk (pKendall < 0.001) and with a perception of "serious" risk (pKendall < 0.001). Genetic risk did not influence risk perception, but was correlated with an increase in perception of "serious" risk for moderate (pKendall = 0.04) and average FHH risk subjects (pKendall = 0.01), though not for the high FHH risk group. Perceived control over T2D risk was high and not affected by FHH or genetic risk. FHH appears to have a strong impact on cognitive precursors of behavior change, suggesting it could be leveraged to enhance risk counseling, particularly when lifestyle change is desirable. Genetic risk was able to alter perceptions about the seriousness of T2D risk in those with moderate and average FHH risk, suggesting that FHH could be used to selectively identify individuals who may benefit from genetic risk testing.

  10. Prenatal genetic testing, counseling and follow-up of 33 Egyptian ...

    African Journals Online (AJOL)

    Khaled R. Gaber


    Feb 21, 2015 ... b Prenatal Diagnosis Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Received ... referred from medical centers throughout Egypt. .... tion of multiple pregnancies, placental location, fetal ... 36.8% (14/38) affected fetuses with MPS and the distribution.

  11. Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology

    NARCIS (Netherlands)

    Lolkema, M.P.; Gadellaa-van Hooijdonk, C.G.; Bredenoord, A.L.; Kapitein, P.; Roach, N.; Cuppen, E.; Knoers, N.V.; Voest, E.E.


    In the last decade, an overwhelming number of genetic aberrations have been discovered and linked to the development of treatment for cancer. With the rapid advancement of next-generation sequencing (NGS) techniques, it is expected that large-scale DNA analyses will increasingly be used to select pa

  12. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia. (United States)

    Memish, Ziad Ahmed; Saeedi, Mohammad Y


    Saudi Arabia has a high prevalence of hereditary hemoglobin disorders. Data has been collected by the Saudi Premarital Screening and Genetic Counseling Program on the prevalence of sickle cell disease and β-thalassemia but the outcomes were not quantified. We used six years of premarital screening data to estimate the burden of sickle disease and β-thalassemia over the program period and to assess the frequency of at-risk marriage detection and prevention. Retrospective review, premarital couples attending premarital and genetic counseling clinics with marriage proposals between 2004 and 2009. Blood samples obtained from all couples with marriage proposals between 2004 and 2009 were tested for sickle cell disease and β-thalassemia. Test results were shared with all examinees and genetic counseling was offered for all at-risk couples. Marriage certificates were issued irrespective of the results and compliance with medical advice was voluntary. Out of all men and women examined, 70,962 (4.5%) and 29,006 (1.8%) were carriers or cases of sickle cell disease and β-thalassemia, respectively. While the prevalence of sickle cell disease was constant between 2004 and 2009 (average 45.1 per 1000 examined persons, P=.803), the prevalence of β-thalassemia steadily decreased from 32.9 to 9.0 per 1000 examined persons (Ppremarital screening in Saudi Arabia markedly reduced the number of at-risk marriages, which may considerably reduce the genetic disease burden in Saudi Arabia in the next decades.

  13. 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? (United States)

    Dijkstra, Henriëtta; Albada, Akke; Klöckner Cronauer, Christina; Ausems, Margreet G E M; van Dulmen, Sandra


    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 counselee satisfaction, needs fulfillment and anxiety. Breast cancer counselees (N=85) completed questionnaires measuring satisfaction, needs fulfillment and anxiety after the final consultation and anxiety before the initial visit. Consultations were videotaped. Counselor nonverbal encouragements and counselee-directed eye gaze were coded. Verbal dominance and interactivity were measured using the Roter Interaction Analysis System (RIAS). More counselor nonverbal encouragements and higher counselor verbal dominance were both significantly related to higher post-visit anxiety. Furthermore, counselor verbal dominance was associated with lower perceived needs fulfillment. No significant associations with eye gaze and interactivity were found. More research is needed on the relationship between nonverbal encouragements and anxiety. Given the unfavorable association of counselor verbal dominance with anxiety and needs fulfillment, more effort could be devoted to involve counselees in the dialog and reduce the counselor's verbal contribution during the consultation. Interventions focused on increasing counselees' contribution in the consultation may be beneficial to counselees. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  14. Self-Awareness in a Quasi-Counseling Interview. (United States)

    Liese, Bruce S.

    The relationship between self-awareness and counseling outcome has received little attention in the counseling research literature. In order to test the relationship between counselor-induced and dispositional self-awareness and counseling outcomes, 60 female undergraduates participated in two audiotaped sessions. In the sign-up session subjects'…

  15. RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling. (United States)

    Widowati, Titis; Melhem, Shamiram; Patria, Suryono Y; de Graaf, Bianca M; Sinke, Richard J; Viel, Martijn; Dijkhuis, Jos; Sadewa, Ahmad H; Purwohardjono, Rochadi; Soenarto, Yati; Hofstra, Robert Mw; Sribudiani, Yunia


    Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR can be caused by germline mutations in RET and EDNRB. Defining causality of the mutations identified is difficult and almost exclusively based on in silico predictions. Therefore, the reported frequency of pathogenic mutations might be overestimated. We combined mutation analysis with functional assays to determine the frequencies of proven pathogenic RET and EDNRB mutations in HSCR. We sequenced RET and EDNRB in 57 HSCR patients. The identified RET-coding variants were introduced into RET constructs and these were transfected into HEK293 cells to determine RET phosphorylation and activation via ERK. An exon trap experiment was performed to check a possible splice-site mutation. We identified eight rare RET-coding variants, one possible splice-site variant, but no rare EDNRB variants. Western blotting showed that three coding variants p.(Pr270Leu), p.(Ala756Val) and p.(Tyr1062Cys) resulted in lower activation of RET. Moreover, only two RET variants (p.(Ala756Val) and p.(Tyr1062Cys)) resulted in reduced ERK activation. Splice-site assays on c.1880-11A>G could not confirm its pathogenicity. Our data suggest that indeed almost half of the identified rare variants are proven pathogenic and that, hence, functional studies are essential for proper genetic counseling.

  16. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. (United States)

    McConkie-Rosell, Allyn; Abrams, Liane; Finucane, Brenda; Cronister, Amy; Gane, Louise W; Coffey, Sarah M; Sherman, Stephanie; Nelson, Lawrence M; Berry-Kravis, Elizabeth; Hessl, David; Chiu, Sufen; Street, Natalie; Vatave, Ajay; Hagerman, Randi J


    The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.

  17. Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases. (United States)

    Braha, Elena; Martiniuc, Violeta; Panzaru, Monica; Caba, Lavinia; Butnariu, Lăcrămioara; Onofriescu, M; Socolov, Demetra; Grigore, Mihaela; Nemescu, D; Mihălceanu, Elena; Iliev, G; Gorduza, E V


    Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for the prevention of chromosomal anomalies. A difficult issue is prenatal detection of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy nor cause psychomotor retardation, but sexualization disorders and the lack of reproductive potential are a constant finding. This study aimed at identifying the medical problems the specialists and the parental couple are faced with at the time of the diagnosis of fetal gonosomal anomalies. This retrospective study (2004-2012) was conducted in the Prenatal Genetic Diagnosis Department of "CuzaVoda" Maternity by FISH technique in 1685 pregnancies. The AneuVysion probes were used for identifying and enumerating chromosomes 13, 18, 21, X, and Y via fluorescence in situ hybridization (FISH) in interphase nuclei obtained from amniotic fluid. Fifteen fetuses were selected in which we were faced with difficulties interpreting the number of gonosomes: monosomy X (5 cases), pseudomosaicism XX/XY (3), trisomy XXY (3 cases), trisomy XYY (1 case), 45,X/46.XX mosaicism (1 case) and triploidy XXX (2 cases). Later, by repeating the analysis, 2 cases with pseudomosaicism XX/XY were excluded. A case highlighting the limitations of the FISH test was that of a fetus in which the FISH test revealed trisomy XXY, while postnatal karyotyping showed a six cell line mosaicism (marker and ring X chromosomes). All parental couples received nondirective genetic counseling, respecting the individuals' dignity and rights of self-determination. Parents received information on the natural course of the disease, treatment options, and psychological support and were involved in their child's recovery.

  18. Isolated and ventriculomegaly-associated cases of spina bifida in genetic counseling: focus on fetal pathology. (United States)

    Joó, József Gábor; Csaba, Ákos; Szigeti, Zsanett; Rigó, János


    Cases of spina bifida alone and in association with ventriculomegaly represent important but different malformations according to clinical characteristics. In our study, we analyzed the data on pregancies terminated because of isolated cases (n=307) and ventriculomegaly-associated cases (n=372) of spina bifida. In spina bifida cases in association with hydrocephalus, positive obstetric history was found approximately 1.5 times more frequently than in the isolated ones. The incidence of positive genetic history was nearly two-fold in the latter cases. In isolated cases of spina bifida, associated malformations were more common than in cases of spina bifida and ventriculomegaly together. The most frequent associated malformations were those of the urogenital system (in cases of spina bifida: 11.1%; in cases of SB+V: 9.14%). The risk of recurrence of SB+V is significantly higher than that of isolated SB (8.9% vs. 2.1%). It can be concluded that positive genetic history is more common in cases of isolated spina bifida. Malformations out of the nervous system are more commonly observed in cases of isolated spina bifida. During the prenatal diagnostics of spina bifida, sonography must focus on malformations of the urogenital system.

  19. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

    Energy Technology Data Exchange (ETDEWEB)

    Allen, R.C.; Nachtman, R.G.; Belmont, J.W.; Rosenblatt, H.M.


    Bruton X-linked agammaglobulinemia (XLA) is a phenotypically recessive genetic disorder of B lymphocyte development. Female carriers of XLA, although asymptomatic, have a characteristic B cell lineage-specific skewing of the pattern of X inactivation. Skewing apparently results from defective growth and maturation of B cell precursors bearing a mutant active X chromosome. In this study, carrier status was tested in 58 women from 22 families referred with a history of agammaglobulinemia. Primary carrier analysis to examine patterns of X inactivation in CD19[sup +] peripheral blood cells (B lymphocytes) was conducted using quantitative PCR at the androgen-receptor locus. Obligate carriers of XLA demonstrated >95% skewing of X inactivation in peripheral blood CD19[sup +] cells but not in CD19[sup [minus

  20. Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase. (United States)

    Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T


    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.

  1. Maintaining ideal body weight counseling sessions

    Energy Technology Data Exchange (ETDEWEB)

    Brammer, S.H.


    The purpose of this program is to provide employees with the motivation, knowledge and skills necessary to maintain ideal body weight throughout life. The target audience for this program, which is conducted in an industrial setting, is the employee 40 years of age or younger who is at or near his/her ideal body weight.

  2. Panel Session

    DEFF Research Database (Denmark)

    Bertelsen, Olav Wedege


    In this panel session, four researchers will discuss the role of a theoretical foundation, in particular AT, in the design of information technology based artefacts. The general discussion will take of from a specific examination of the ActAD approach.......In this panel session, four researchers will discuss the role of a theoretical foundation, in particular AT, in the design of information technology based artefacts. The general discussion will take of from a specific examination of the ActAD approach....

  3. Clinical and counselling implications of preimplantation genetic diagnosis for Huntington's disease in the UK. (United States)

    Lashwood, A; Flinter, F


    Huntington's disease is an autosomal dominant neurodegenerative disorder that usually occurs in adult life. Individuals at risk can have a gene test before the onset of symptoms, and prenatal diagnosis is available. Preimplantation genetic diagnosis (PGD) for Huntington's disease is now available for couples in whom one partner has the gene for Huntington's disease. A licence to practise PGD is required from the Human Fertilisation and Embryology Authority, and there are several complex issues relating to PGD for Huntington's disease that require consideration. The partner of the Huntington's disease gene carrier should have a presymptomatic test to ensure accuracy in a PGD cycle. There should be a delay between blood sampling and testing for Huntington's disease to allow time for reflection and withdrawal from testing. All PGD treatment has an associated risk of misdiagnosis. If confirmatory prenatal testing is not undertaken after a successful PGD cycle, no confirmation of diagnosis will be obtained at birth. Guidelines indicate that individuals who are at risk cannot be tested before 18 years. There is concern over the ability of a child or adolescent to make an informed choice about testing before this age. Confirmatory testing at birth after PGD would be in direct contravention of these guidelines. In the UK, the law requires consideration of the welfare of children born after assisted conception treatment. Presenting symptoms of Huntington's disease may affect the parenting abilities of an affected individual. There is a need for an assessment of a patient's current Huntington's disease status and their planned provision of care of children if Huntington's disease affects parenting. It has been necessary to create a detailed working protocol for the management of PGD for Huntington's disease to address these issues.

  4. Counselee participation in follow-up breast cancer genetic counselling visits and associations with achievement of the preferred role, cognitive outcomes, risk perception alignment and perceived personal control. (United States)

    Albada, Akke; Ausems, Margreet G E M; van Dulmen, Sandra


    The purpose of the study was to assess the counselee participation in the follow-up visits, compared to the first visits, for breast cancer genetic counselling and to explore associations with counselees' achievement of their preferred role in decision making, information recall, knowledge, risk perception alignment and perceived personal control. First and follow-up visits for breast cancer genetic counselling of 96 counselees of a Dutch genetics center were videotaped (2008-2010). Counselees completed questionnaires before counselling (T1), after the follow-up visit (T2) and one year after the follow-up visit (T3). Consultations were rated with the Roter Interaction Analysis System (RIAS). Counselee participation was measured as the percentage of counselee utterances, the percentage of counselee questions and the interactivity (number of turns per minute). Follow-up visits had higher levels of counselee participation than first visits as assessed by the percentage of counselee talk, the interactivity and counselee questions. More counselee talk in the follow-up visit was related to higher achievement of the preferred role (T2) and higher perceived personal control (T3). Higher interactivity in the follow-up visit was related to lower achievement of the preferred role in decision making and lower information recall (T2). There were no significant associations with the percentage of questions asked and none of the participation measures was related to knowledge, risk perception alignment and perceived personal control (T2). In line with the interviewing admonishment 'talk less and listen more', the only assessment of counselee participation associated to better outcomes is the percentage of counselee talk. High interactivity might be associated with lower recall in breast cancer genetic counselees who are generally highly educated. However, this study was limited by a small sample size and a heterogeneous group of counselees. Research is needed on the interactions

  5. Certified Genetic Counselors: A Crucial Clinical Resource in the Management of Patients with Suspected Hereditary Cancer Syndromes. (United States)

    Catts, Zohra Ali-Khan; Hampel, Heather


    The role of the cancer genetic counselor in the management of patients with cancer is discussed in this article. This includes explaining what a genetic counselor is trained to do and how they are credentialed and licensed. In addition, the article explains who to refer for cancer genetic counseling. Once referred, the article describes what actually happens in a pretest and posttest cancer genetic counseling session. Use of a cancer genetic registry and how it can help in practice is discussed. Finally, several mechanisms for identifying a cancer genetic counselor at one's institution or nearby are outlined.

  6. Training Counseling Students to Work More Effectively with Short-Term Clients (United States)

    Hatchett, Gregory


    Most clients attend only a few sessions before dropping out of counseling and, consequently, never traverse the series of stages delineated in many counseling process models. There is frequently a mismatch between the counseling process as portrayed in many counseling textbooks with the counseling process students are likely to experience when…

  7. Panel Sessions. (United States)

    Proceedings of the ASIS Mid-Year Meeting, 1992


    Lists the speakers and summarizes the issues addressed for 12 panel sessions on topics related to networking, including libraries and national networks, federal national resources and energy programs, multimedia issues, telecommuting, remote image serving, accessing the Internet, library automation, scientific information, applications of Z39.50,…

  8. Sexuality and the Elderly: A Group Counseling Model. (United States)

    Capuzzi, Dave; Gossman, Larry


    Describes a 10-session group counseling model to facilitate awareness of sexuality and the legitimacy of its expression for older adults. Considers member selection, session length and setting, and group leadership. (Author/MCF)

  9. Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: Application for diagnosis, genetic counseling, and therapy

    Energy Technology Data Exchange (ETDEWEB)

    Hiort, O. (Medizinische Universitaet zu Luebeck (Germany) Tufts-New England Medical Center, Boston, MA (United States)); Huang, Q. (Massachusetts Eye and Ear Infirmary, Boston, MA (United States)); Sinnecker, G.H.G.; Kruse, K. (Medizinische Universitaet zu Luebeck (Germany)); Sadeghi-Nejad, A.; Wolfe, H.J. (Tufts-New England Medical Center, Boston, MA (United States)); Yandell, D.W. (Massachusetts Eye and Ear Infirmary, Boston, MA (United States))(Harvard Medical School, Boston, MA (United States) Harvard School of Public Health, Boston, MA (United States))


    Recent studies indicate that mutations in the androgen receptor gene are associated with androgen insensitivity syndromes, a heterogeneous group of related disorders involving defective sexual differentiation in karyotypic males. In this report, the authors address the possibility of rapid mutational analysis of the androgen receptor gene for initial diagnosis, genetic counseling, and molecular subclassification of affected patients and their families. DNA from peripheral blood leukocytes of six patients from five families with various degrees of androgen insensitivity was studied. Exons 2 to 8 of the androgen receptor gene were analyzed using a combination of single strand conformation polymorphism analysis and direct DNA sequencing. Female family members were also studied to identify heterozygote carriers. Point mutations in the AR gene were identified in all six patients, and all mutations caused amino acid substitutions. One patient with incomplete androgen insensitivity was a mosaic for the mutation. Four of the five mothers, as well as a young sister of one patient, were carriers of the mutation present in the affected child. The data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome. Molecular genetic characterization of the variant allele can serve as a primary tool for diagnosis and subsequent therapy, and can provide a basis for distinguishing heterozygous carriers in familial androgen resistance. The identification of carriers is of substantial clinical importance for genetic counseling. 29 refs., 2 figs., 1 tab.

  10. Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result

    NARCIS (Netherlands)

    Vos, Joel; Gomez-Garcia, Encarna; Oosterwijk, Jan C.; Menko, Fred H.; Stoel, Reinoud D.; van Asperen, Christi J.; Stiggelbout, Anne M.; Tibben, Aad; JANSEN, AM


    Background: It has been hypothesized that the Outcomes of DNA testing (O) are better predicted and/or mediated by the counselees' Perception P) than by the actually communicated genetic Information (I). In this study, we aimed at quantifying the effect that perception has in genetic counseling for h

  11. Marriage Counseling (United States)

    ... counseling can help couples in all types of intimate relationships — heterosexual or homosexual, married or not. Some ... marriage counseling to address many specific issues, including: Communication problems Sexual difficulties Conflicts about child rearing or ...

  12. f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies. (United States)

    Tokutomi, Tomoharu; Fukushima, Akimune; Yamamoto, Kayono; Bansho, Yasushi; Hachiya, Tsuyoshi; Shimizu, Atsushi


    ) Alternatively, family histories are collected using a completed foldable interview paper sheet named "f-sheet", which is identical to the questionnaire in f-treeGC. We developed a questionnaire-based family tree-creation software, named f-treeGC, which is fully compliant with international recommendations for standardized human pedigree nomenclature. The present software simplifies the process of collecting family histories and pedigrees, and has a variety of uses, from genome cohort studies or primary care to genetic counseling.

  13. 关于遗传咨询及其相关伦理问题探讨%Ethical Discussion on Genetic Counseling and Its Relevant Issues

    Institute of Scientific and Technical Information of China (English)



    对遗传咨询的定义作了界定,介绍了遗传咨询的发展以及目前实践概况,提出遗传咨询应当遵守尊重个人和家庭,保护家庭完整;信息的完全告知;遗传信息的保密和适当公开;非指令性咨询等伦理原则 同时结合我国遗传咨询实践的现状,探讨了我国目前遗传咨询中涉及和存在的伦理问题:对遗传咨询的定位和认识存在偏差,对个人人格、隐私的尊重和遗传性信息的保密不到位,遗传性咨询中的知情同意落实不到位,对咨询的非指令性理解和重视程度不够等.针对没有专业的遗传咨询师和专门的咨询机构的现状,提出解决遗传咨询现实难题的相关建议:加强对临床遗传服务的重视,提高医师的伦理意识,尊重患者和保护患者个人信息,努力做好告知义务并尊重患者选择,加强对遗传咨询的专业性教育.%This paper defined the genetic counseling, introduced its development and the current practices and proposed some ethical principles, such as respecting individual and family, protecting the family completeness; completely informed consent; the confidentiality of genetic information and appropriate publication; non - prescriptive consulting and so forth. Based on the current condition, some relevant ethical issues were discussed; there is a deviation in the cognition of genetic counseling; imperfection in respecting the individual personality, privacy and the confidentiality of the genetic information; informed consent was not fully carried out; pay less attention to non -prescriptive consulting and lack of comprehensive understanding. Now, there is no professional s and institution, to solve those problems, the author proposed that; attach importance to clinical genetic service, improve ethics consciousness of doctors, show respect and protect the patients individual information, make effort in informed consent and respect patients decision, strengthen the professional

  14. DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

    Directory of Open Access Journals (Sweden)

    Sie Aisha S


    Full Text Available Abstract Background Current practice for patients with breast cancer referred for genetic counseling, includes face-to-face consultations with a genetic counselor prior to and following DNA-testing. This is based on guidelines regarding Huntington’s disease in anticipation of high psychosocial impact of DNA-testing for mutations in BRCA1/2 genes. The initial consultation covers generic information regarding hereditary breast cancer and the (impossibilities of DNA-testing, prior to such testing. Patients with breast cancer may see this information as irrelevant or unnecessary because individual genetic advice depends on DNA-test results. Also, verbal information is not always remembered well by patients. A different format for this information prior to DNA-testing is possible: replacing initial face-to-face genetic counseling (DNA-intake procedure by telephone, written and digital information sent to patients’ homes (DNA-direct procedure. Methods/design In this intervention study, 150 patients with breast cancer referred to the department of Clinical Genetics of the Radboud University Nijmegen Medical Centre are given the choice between two procedures, DNA-direct (intervention group or DNA-intake (usual care, control group. During a triage telephone call, patients are excluded if they have problems with Dutch text, family communication, or of psychological or psychiatric nature. Primary outcome measures are satisfaction and psychological distress. Secondary outcome measures are determinants for the participant’s choice of procedure, waiting and processing times, and family characteristics. Data are collected by self-report questionnaires at baseline and following completion of genetic counseling. A minority of participants will receive an invitation for a 30 min semi-structured telephone interview, e.g. confirmed carriers of a BRCA1/2 mutation, and those who report problems with the procedure. Discussion This study compares current practice

  15. Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review. (United States)

    Saffi, Marwa; Howard, Natasha


    β-Thalassaemia is a common genetic blood disorder in the Middle Eastern region. Mandatory premarital screening and genetic counselling (PMSGC) programmes are implemented in 8 Middle East countries to reduce at-risk marriages and thus disease prevalence. A scoping review was conducted to explore the effectiveness of these programmes. The 6-stage scoping framework of Arksey and O'Malley [Int J Soc Res Methodol 2005;8:19-32] was used. Reported outcomes were analysed per country, with success defined as achieving a 65% reduction in at-risk marriages and/or thalassaemia-affected births. Emergent enablers and barriers were analysed thematically. Twenty-one sources were included from the 1,348 identified, discussing 7 country programmes, with 95% (20/21) published during 2003-2013. Five publications each were included for Iran and Saudi Arabia, 3 for Turkey, 2 each for Bahrain and Iraq (Kurdistan), and 1 for the United Arab Emirates, plus 2 multi-country evaluations. No programme achieved a 65% at-risk marriage cancellation rate. Though data on thalassaemia-affected birth reductions were minimal, programmes in Iran, Turkey and Iraq reported at least 65% reductions. A thematic analysis found that screening timing, access to prenatal detection and abortion, socio-religious issues, awareness and counselling affected decisions. This review found that PMSGC programmes were unsuccessful in discouraging at-risk marriages but successful in reducing the prevalence of affected births in countries providing prenatal detection and therapeutic abortion. A life cycle approach to prevention, incorporation of school screening, awareness campaigns, reconsideration of therapeutic abortion, and screening and counselling of couples married prior to programme inception are likely to improve the effectiveness of such programmes in the Middle Eastern region. © 2015 S. Karger AG, Basel.


    Directory of Open Access Journals (Sweden)

    Crsitian Tudose


    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

  17. Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making. (United States)

    Wevers, Marijke R; Aaronson, Neil K; Bleiker, Eveline M A; Hahn, Daniela E E; Brouwer, Titia; van Dalen, Thijs; Theunissen, Evert B; van Ooijen, Bart; de Roos, Marnix A; Borgstein, Paul J; Vrouenraets, Bart C; Vriens, Eline; Bouma, Wim H; Rijna, Herman; Vente, Johannes P; Kuenen, Marianne A; van der Sanden-Melis, Jacoline; Witkamp, Arjen J; Rutgers, Emiel J Th; Verhoef, Senno; Ausems, Margreet G E M


    Rapid genetic counseling and testing (RGCT) in newly diagnosed high-risk breast cancer (BC) patients may influence surgical treatment decisions. To successfully integrate RGCT in practice, knowledge of professionals', and patients' attitudes toward RGCT is essential. Between 2008 and 2010, we performed a randomized clinical trial evaluating the impact of RGCT. Attitudes toward and experience with RGCT were assessed in 265 patients (at diagnosis, 6- and 12-month follow-up) and 29 medical professionals (before and after the recruitment period). At 6-month follow-up, more patients who had been offered RGCT felt they had been actively involved in treatment decision-making than patients who had been offered usual care (67% vs 48%, P = 0.06). Patients who received DNA-test results before primary surgery reported more often that RGCT influenced treatment decisions than those who received results afterwards (P < 0.01). Eighty-seven percent felt that genetic counseling and testing (GCT) should preferably take place between diagnosis and surgery. Most professionals (72%) agreed that RGCT should be routinely offered to eligible patients. Most patients (74%) and professionals (85%) considered surgeons the most appropriate source for referral. RGCT is viewed as helpful for newly diagnosed high-risk BC patients in choosing their primary surgery and should be offered routinely by surgeons. © 2017 Wiley Periodicals, Inc.

  18. Investigation of RBC Indices and HbA2 Levels in Parents of Beta-Thalassemia Patients: Impacts on Premarital Genetic Counseling

    Directory of Open Access Journals (Sweden)

    Mina Izadyar


    Full Text Available Objective: This study was designed to investigate RBC indices and HbA2 levels in parents of major beta-thalassemia patients to detect possible silent beta- thalassemia carriers and examine its potential impact on the premarital genetic counseling.Materials and Methods: This cross sectional study was performed at Children Medical Center from 2004 to 2006. After genetic counseling and getting informed consent, peripheral blood sampling was carried out on 185 carrier parents of regularly blood transfused thalassemia children. Then RBC indices and HbA2 concentration were measured. Samples with MCV and MCH higher than and/or HbA2 lower than cut off values were rechecked. Results: In one case, MCV and MCH indices were within the limits defined for non beta- thalassemia carriers. Furthermore, four other cases were found to have decreased values of MCV and MCH but normal HbA2 levels.Conclusion: About 3% of beta-thalassemia carriers in our country may potentially be missed using current screening methods. Further studies are required to assess the need for presenting a new threshold for thalassemia carrier screening. Defining the causative mutations using molecular methods would pave the way for establishing a protocol for a premarital screening program in conditions when one of couples is a confirmed carrier.

  19. Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance. (United States)

    Buchanan, Adam H; Christianson, Carol A; Himmel, Tiffany; Powell, Karen P; Agbaje, Astrid; Ginsburg, Geoffrey S; Henrich, Vincent C; Orlando, Lori A


    Several barriers inhibit collection and use of detailed family health history (FHH) in primary care. MeTree, a computer-based FHH intake and risk assessment tool with clinical decision support, was developed to overcome these barriers. Here, we describe the impact of MeTree on genetic counseling (GC) referrals and attendance. Non-adopted, English speaking adults scheduled for a well-visit in two community-based primary-care clinics were invited to participate in an Implementation-Effectiveness study of MeTree. Participants' demographic characteristics and beliefs were assessed at baseline. Immediately after an appointment with a patient for whom GC was recommended, clinicians indicated whether they referred the patient and, if not, why. The study genetic counselor kept a database of patients with a GC recommendation and contacted those with a referral. Of 542 patients completing MeTree, 156 (29 %) received a GC recommendation. Of these, 46 % (n = 72) were referred and 21 % (n = 33) underwent counseling. Patient preferences, additional clinical information unavailable to MeTree, and an incomplete clinician evaluation of the FHH accounted for the 85 patients clinicians chose not to refer. Although MeTree identified a significant proportion of patients for whom GC was recommended, persistent barriers indicate the need for improved referral processes and patient and physician education about the benefits of GC.

  20. Genetic Counseling Technology Service Platform on Promoting the Construction of Medical Genetics Course%论遗传咨询科技服务平台对医学遗传学课程建设的促进作用

    Institute of Scientific and Technical Information of China (English)

    罗佳滨; 朱金玲; 张春斌; 张虎; 刘爽


    遗传咨询工作是临床遗传学的重要组成部分.开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的.对医学遗传学课程建设起到了促进作用.%Genetic counseling work is an important component of clinical genetics. Open mode of genetic counseling technology service platform, constucts the extrcurricular leamling and teaching organically, teacher-student interaction of three-dimensional teaching body, Practise prove to raise students' comprehensive quality, and to raise the overall teachers' teaching quality, achieve teacher-and-stu-dents pupose, For medical genetics course construction plays a role in promoting.

  1. Genetic Counseling Technology Service Platform on Promoting the Construction of Medical Genetics Course%论遗传咨询科技服务平台对医学遗传学课程建设的促进作用

    Institute of Scientific and Technical Information of China (English)

    罗佳滨; 朱金玲; 张春斌; 张虎; 刘爽


    遗传咨询工作是临床遗传学的重要组成部分.开放式的遗传咨询科技服务平台,构建了课外学习与课堂教学有机结合,师生互动的立体化教学体系,实践证明有利于提高学生综合素质,并有助于全面提升教师的教学素养,达到教学相长的目的.对医学遗传学课程建设起到了促进作用.%Genetic counseling work is an important component of clinical genetics. Open mode of genetic counseling technology service platform, constucts the extrcurricular learnling and teaching organically, teacher-student interaction of three-dimensional teaching body, Practise prove to raise students' comprehensive quality, and to raise the overall teachers' teaching quality, achieve teacher-and-stu-dents pupose, For medical genetics course construction plays a role in promoting.

  2. 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


    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.

  3. 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


    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

  4. Impact of computer-assisted data collection, evaluation and management on the cancer genetic counselor's time providing patient care. (United States)

    Cohen, Stephanie A; McIlvried, Dawn E


    Cancer genetic counseling sessions traditionally encompass collecting medical and family history information, evaluating that information for the likelihood of a genetic predisposition for a hereditary cancer syndrome, conveying that information to the patient, offering genetic testing when appropriate, obtaining consent and subsequently documenting the encounter with a clinic note and pedigree. Software programs exist to collect family and medical history information electronically, intending to improve efficiency and simplicity of collecting, managing and storing this data. This study compares the genetic counselor's time spent in cancer genetic counseling tasks in a traditional model and one using computer-assisted data collection, which is then used to generate a pedigree, risk assessment and consult note. Genetic counselor time spent collecting family and medical history and providing face-to-face counseling for a new patient session decreased from an average of 85-69 min when using the computer-assisted data collection. However, there was no statistically significant change in overall genetic counselor time on all aspects of the genetic counseling process, due to an increased amount of time spent generating an electronic pedigree and consult note. Improvements in the computer program's technical design would potentially minimize data manipulation. Certain aspects of this program, such as electronic collection of family history and risk assessment, appear effective in improving cancer genetic counseling efficiency while others, such as generating an electronic pedigree and consult note, do not.

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

    Directory of Open Access Journals (Sweden)

    Valdimarsdottir Heiddis B


    Full Text Available Abstract Background 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. Methods/Design 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. Discussion 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

  6. Meaningful Experiences in the Counseling Process (United States)

    Sackett, Corrine; Lawson, Gerard; Burge, Penny L.


    Researchers examined the experiences of a counseling session from the perspectives of counselors-intraining (CITs) and clients. Post-session phenomenological interviews were conducted to elicit participants' meaningful experiences, and the analysis revealed both similarities and differences. Researchers found the following themes most meaningful…

  7. Peer Observed Interaction and Structured Evaluation (POISE): a Canadian experience with peer supervision for genetic counselors. (United States)

    Goldsmith, Claire; Honeywell, Christina; Mettler, Gabrielle


    Peer observation, while often used in other professions, has not been formally applied in genetic counseling. The objective of this study was to pilot a method of peer evaluation whereby genetic counselors observed, and were observed by, each other during patient interaction. All of the available genetic counselors participated in both rounds of the pilot study (six in round one, seven in round two). The genetic counselors that observed the session used an observation room. Most participants reported learning a new skill. Sensitivity to, and comfort with, the feedback process improved. We conclude that Peer-Observed Interaction and Structured Evaluation (POISE) provides an opportunity to refresh counseling approaches and develop feedback skills without causing undue team discord. This new approach to peer supervision in genetic counselling offers a live observation approach for genetic counsellor supervision.

  8. Content Analysis of 32 Years of American Counseling Association Convention Programs (United States)

    Helwig, Andrew A.; Schmidt, Lisa L. L.


    A content analysis of American Counseling Association convention sessions offered from 1977 to 2008 was conducted. The intent was to identify changes and trends in the counseling profession. Content of more than 15,000 sessions, including educational programs, keynote presentations, and training sessions, was assigned to 1 of 86 categories. A…

  9. Content Analysis of 32 Years of American Counseling Association Convention Programs (United States)

    Helwig, Andrew A.; Schmidt, Lisa L. L.


    A content analysis of American Counseling Association convention sessions offered from 1977 to 2008 was conducted. The intent was to identify changes and trends in the counseling profession. Content of more than 15,000 sessions, including educational programs, keynote presentations, and training sessions, was assigned to 1 of 86 categories. A…

  10. Exploring the Affective Inner Experiences of Therapists in Training: The Qualitative Interaction between Session Experience and Session Content (United States)

    Melton, John L.; Nofzinger-Collins, Dawn; Wynne, Martha E.; Susman, Marilyn


    Thirty-four 1st-year counseling students recorded their inner experiences following a simulated counseling session. Using a qualitative collective case study approach to extract emotion from a large pool of inner experience, 6 judges identified samples of affect through a triangulation process using intensity, extreme, and critical case sampling…

  11. Asesoría genética sobre cáncer en el Perú Genetic counseling about cancer in Peru

    Directory of Open Access Journals (Sweden)

    Javier E. Manrique


    Full Text Available El cáncer es una enfermedad genética producto de alteraciones en la secuencia o expresión del ADN. Estas alteraciones, según su origen, nos permiten clasificar el cáncer como esporádico y hereditario o familiar. En base a los registros de cáncer, en el Perú se espera que del 5 al 30% de todos los pacientes con cáncer, que equivale aproximadamente entre 2000 a 12 000 personas, presentarían cáncer del tipo familiar o hereditario, lo que representaría un similar número de familias con un riesgo mayor de desarrollar cáncer que el de la población en general. El propósito de la asesoría genética es identificar cánceres hereditarios en una familia con el fin de prevenir la enfermedad y la muerte por este mal. Es una estrategia que nos puede permitir detectar y diagnosticar con antelación estos cánceres. Es por este motivo que en el Instituto Nacional de Enfermedades Neoplásicas del Perú se realizan consultas de diagnóstico y asesoría genética desde hace cinco años, constituyéndose en un elemento importante para la lucha contra el cáncer, sin embargo, para lograr un mayor impacto en la salud requiere ampliar y fortalecer el proceso de capacitación en genética y asesoría genética a profesionales de la salud, sobre todo a médicos y enfermerasCancer 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 counseling is to identify hereditary cancers running in the family in order to prevent diseases and deaths caused by this condition. It is a strategy that allows us to detect and diagnose these types of

  12. Exercise on prescription: a randomized study on the effect of counseling vs counseling and supervised exercise

    DEFF Research Database (Denmark)

    Sørensen, Jes Bak; Kragstrup, J; Skovgaard, T


    (counseling) using maximal oxygen uptake (VO(2max)) as the primary outcome. The study was conducted as a randomized trial in 2005-2006 with a high and a low-intensive group. All the patients referred to the EoP scheme by their GP in the counties of Vejle and Ribe, Denmark, were eligible for the trial....... The high-intensive EoP group received 4 months of group-based supervised training and attended five motivational counseling sessions. The low-intensive group only attended four motivational counseling sessions. Three hundred and twenty-seven patients entered the EoP scheme, and 52 (16%) volunteered...

  13. Whatever Happened to Counseling in Counseling Psychology? (United States)

    Scheel, Michael J.; Berman, Margit; Friedlander, Myrna L.; Conoley, Collie W.; Duan, Changming; Whiston, Susan C.


    A suspected decline in published counseling-related research in "The Counseling Psychologist" ("TCP") and the "Journal of Counseling Psychology" ("JCP") was investigated through content analyses of the two journals from 1979 to 2008. A marked decline in counseling-related research may signify a shift in emphasis away from counseling as the most…

  14. Cytogenetical analysis on 5828 cases of genetic counseling patients%5828例遗传咨询者的细胞遗传学分析

    Institute of Scientific and Technical Information of China (English)

    李玉英; 李琳; 郑书琪; 张继霞


    Objective: This study was designed to investigate the incidence of abnormal karyotype in genetic counseling patients, and confer the relationship between chromosomal abnormalities and disease emergence and development from LinYi district. Methods: The peripheral blood lymphocytes were cultured and analyzed by the G - band technique, or C - band technique when necessary. Results: The chromosomal analysis was made in 5828 genetic counseling patients with a history of abnormal pregnancy, infertility, primary and secondary amenorrhea, mental retardation or congenital malformation etc. We found 805 cases of abnormal karyotype with 146 types, the percent is 13.81 % (805/5828). Thereinto, 616 cases were autosomal abnormalities, this percent is 76.52 % (616/805), there also had 189 cases of sex chromosome abnormalities, the percent is 23. 48 % (189/805). The abnormal chromosomes include all the 24 chromosomes. Conclusions: Chromosome abnormalities are one of the important reasons of abnormal pregnancy, infertility, abnormal sexual development and mental retardation etc. It is very necessary to give planning guidance to genetic counseling patients.%目的 研究临沂地区遗传咨询患者中染色体异常核型的发生率,探讨染色体异常与疾病发生、发展的关系,为优生优育、降低出生缺陷、提高人口素质服务.方法 采用外周血淋巴细胞染色体培养技术,行G显带,必要时进行C显带检查,显微镜下进行核型分析.结果 检查5828例遗传咨询患者染色体,就诊原因主要为不良孕产史、不孕不育、原发及继发性闭经、智力低下、先天畸形等,共检出异常染色体核型146种类型805例,检出率为13.81% (805/5828).检出常染色体结构和数目异常616例,占异常核型的76.52% (616/805),性染色体结构和数目异常189例,占异常核型的23.48% (189/805).异常的染色体涉及所有24条染色体.结论 染色体异常是导致不良孕产史、不孕不育、性

  15. Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern Netherlands

    NARCIS (Netherlands)

    Sikkens, EH; de Walle, HEK; Reefhuis, J; van Tintelen, JP; van Essen, AJ


    Children/fetuses born with a congenital anomaly are recorded in a local registry of congenital anomalies in the Northern Netherlands. Parents of these children/fetuses often have questions about cause, prognosis, and recurrence risk. Referral to a genetic clinic is one way to obtain information conc

  16. O discurso do risco e o aconselhamento genético pré-natal Risk discourse and prenatal genetic counseling

    Directory of Open Access Journals (Sweden)

    Marilena C. D. V. Corrêa


    Full Text Available A medicalização é um fenômeno social difuso nas sociedades ocidentais que se expressa segundo um diferencial de gênero. A gravidez é um momento fortemente medicalizado, no qual as mulheres se vêem cercadas de uma rede de vigilância de seu corpo, sendo responsabilizadas não só pela própria saúde, mas também pela produção de um feto saudável. O controle dos riscos no pré-natal é proposto, entretanto, em um contexto no qual as possibilidades diagnósticas são amplamente majoritárias comparativamente às possibilidades terapêuticas. Essa defasagem é agravada pelo fato de, no Brasil, o abortamento ser ilegal. Este artigo é fruto de pesquisa empírica realizada em um ambulatório público de genética pré-natal, que constou de: observação das práticas de atendimento, revisão de prontuários e realização de entrevistas com profissionais de saúde. Discutem-se o contexto fortemente medicalizado do aconselhamento genético no Brasil e a percepção dos médicos sobre suas práticas neste contexto. É discutido também o possível impacto sobre a tomada de decisão das mulheres atendidas em relação a riscos, técnicas, exames e seus desdobramentos.Medicalization is a highly visible and widespread social phenomenon in Western societies which is expressed differently according to gender. Pregnancy is heavily medicalized, and a surveillance network surrounds pregnant women, holding them accountable for both their own health and the production of a healthy fetus. Prenatal risk control is proposed in a context where diagnostic and therapeutic possibilities overlap. This problem is aggravated by the fact that abortion is illegal in Brazil. The current article is the result of research in a genetic counseling unit that consisted of: observation of consultations, review of patient files, and interviews with health professionals. The highly medicalized context of genetic counseling is discussed, as well as physicians' perception of

  17. What can we Learn from Patients' Ethical Thinking about the right 'not to know' in Genomics? Lessons from Cancer Genetic Testing for Genetic Counselling. (United States)

    Cowley, Lorraine


    This article is based on a qualitative empirical project about a distinct kinship group who were among the first identified internationally as having a genetic susceptibility to cancer (Lynch Syndrome). 50 were invited to participate (42 were tested; eight declined genetic testing). 15, who had all accepted testing, were interviewed. They form a unique case study. This study aimed to explore interviewees' experiences of genetic testing and how these influenced their family relationships. A key finding was that participants framed the decision to be tested as 'common sense'; the idea of choice around the decision was negated and replaced by a moral imperative to be tested. Those who did not follow 'common sense' were judged to be imprudent. Family members who declined testing were discussed negatively by participants. The article addresses what is ethically problematic about how test decliners were discussed and whether these ethical concerns extend to others who are offered genetic testing. Discussions showed that genetic testing was viewed as both an autonomous choice and a responsibility. Yet the apparent conflict between the right to autonomy and the moral imperative of responsibility allowed participants to defend test decliners' decisions by expressing a preference for or defending choice over responsibility. The 'right not to know' seemed an important moral construct to help ethically manage unpopular decisions made by close family who declined testing. In light of this research, the erosion of the 'right not to know' in the genomic age could have subtle yet profound consequences for family relationships.

  18. From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities

    Directory of Open Access Journals (Sweden)

    Bukvic Nenad


    Full Text Available Noonan syndrome (NS is an autosomal dominant disorder, characterized by variable expressivity of clinical features such as: postnatal growth reduction, congenital heart disease, characteristic facial dysmorphisms and development delay. In ~75% of all NS cases, germline mutations involving RAS-MAPK signaling pathway genes (PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, MEK1, CBL are causative. We reported a case of 13-year-old girl [born at 36w by CS (BW 3250 g (~95°, BL 48 cm (~75°] referred for genetic counseling due to growth retardation, facial dysmorphisms, development delay and learning disability. After birth she presented frequent vomiting, with failure to thrive and at 5 months of age underwent surgery for intestinal malrotation. Because of short stature, Growth Hormone (GH therapy have been introduced at age of 3yrs up to 11yrs. Negative molecular testing for PTPN11 and SOS1 genes, normal female karyotype and aCGH analysis were observed. Objective examination: H 138 cm, (A; p.Val14Ile has been identified. Even though KRAS mutations are usually associated with NS severe phenotype with cardiac involvement (hypertrophic cardiomyopathy, this finding is not present in our patient.

  19. Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling. (United States)

    Meyer, Stefan; Tischkowitz, Marc; Chandler, Kate; Gillespie, Alan; Birch, Jillian M; Evans, D Gareth


    Fanconi anaemia (FA) is an inherited condition characterised by congenital and developmental abnormalities and a strong cancer predisposition. In around 3-5% of cases FA is caused by biallelic mutations in the BRCA2 gene. Individuals heterozygous for BRCA2 mutations have an increased risk of inherited breast and ovarian cancer. We reviewed the mutation spectrum in BRCA2-associated FA, and the spectrum and frequency of BRCA2 mutations in distinct populations. The rarity of FA due to biallelic BRCA2 mutations supports a fundamental role of BRCA2 for prevention of malignant transformation during development. The spectrum of malignancies seen associated with FA support the concept of a tissue selectivity of BRCA2 mutations for development of FA-associated cancers. This specificity is illustrated by the distinct FA-associated BRCA2 mutations that appear to predispose to specific brain or haematological malignancies. For some populations, the number of FA-patients with biallelic BRCA2 disruption is smaller than that expected from the carrier frequency, and this implies that some pregnancies with biallelic BRCA2 mutations do not go to term. The apparent discrepancy between expected and observed incidence of BRCA2 mutation-associated FA in high-frequency carrier populations has important implications for the genetic counselling of couples with recurrent miscarriages from high-risk populations.

  20. Outplacement Counseling. (United States)

    Papalia, Anthony S.; Dai, Sheila

    Rapid changes in technology and the economy have led to major staff reductions in the workplace, and have increased the need to assist displaced employees with outplacement counseling that is responsive, cost-effective, humane, and on-going. College counselors have the basic skills to effectively expand their role in this field in ways that…


    Directory of Open Access Journals (Sweden)



    Full Text Available Multicutural is a term used to describe one's view of the variety of life in the world, or cultural policy emphasizing their acceptance of diversity, and a wide range of cultures (multicultural that exist in society regarding values, system, culture, customs and politics that they profess. The effectiveness of counseling depends on many factors the most important is the relation to each other, and mutual understanding between counselor and client. Cultural differences that exist in this country requires the counselor needs to understand the different cultures that exist. Importance of multicultural for counselors as a form of consciousness that the counselor and client have cultural differences. Multicultural counseling a counseling relationship with the concept that there is a counselor with a client who has a cultural background, values and different lifestyles. Building a good relationship when the counseling process takes place so that the counselor can understand the culture of its clients one of the key attitudes that exist within konsleor is empathy. Counselors who have empathy will be able to understand the way the world through the perspective of the client.

  2. Outplacement Counseling. (United States)

    Knowdell, Richard L.; And Others

    This monographs discusses outplacement counseling (the process of helping a terminated employee secure new employment) in business and industry and in higher education. The first section, outplacement in business and industry, describes the emergence of outplacement services and discusses benefits and problems associated with the service. The…

  3. Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling (United States)

    Ockhuysen-Vermey, Caroline F; Henneman, Lidewij; van Asperen, Christi J; Oosterwijk, Jan C; Menko, Fred H; Timmermans, Daniëlle RM


    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. This study protocol describes the design and methods of the BRISC (Breast cancer RISk Communication) study evaluating the effect of different formats of risk communication on the counsellee's risk perception, psychological well-being and decision-making regarding preventive options for breast cancer. Methods and design The BRISC study is designed as a pre-post-test controlled group intervention trial with repeated measurements using questionnaires. The intervention-an additional risk consultation-consists of one of 5 conditions that differ in the way counsellee's breast cancer risk is communicated: 1) lifetime risk in numerical format (natural frequencies, i.e. X out of 100), 2) lifetime risk in both numerical format and graphical format (population figures), 3) lifetime risk and age-related risk in numerical format, 4) lifetime risk and age-related risk in both numerical format and graphical format, and 5) lifetime risk in percentages. Condition 6 is the control condition in which no intervention is given (usual care). Participants are unaffected women with a family history of breast cancer attending one of three participating clinical genetic centres in the Netherlands. Discussion The BRISC study allows for an evaluation of the effects of different formats of communicating breast cancer risks to counsellees. The results can be used to optimize risk communication in order to improve informed decision-making among women with a family history of breast cancer. They may also be useful for risk communication in other health-related services. Trial registration Current Controlled Trials ISRCTN14566836. PMID:18834503

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

    Directory of Open Access Journals (Sweden)

    Menko Fred H


    Full Text Available Abstract 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. This study protocol describes the design and methods of the BRISC (Breast cancer RISk Communication study evaluating the effect of different formats of risk communication on the counsellee's risk perception, psychological well-being and decision-making regarding preventive options for breast cancer. Methods and design The BRISC study is designed as a pre-post-test controlled group intervention trial with repeated measurements using questionnaires. The intervention-an additional risk consultation-consists of one of 5 conditions that differ in the way counsellee's breast cancer risk is communicated: 1 lifetime risk in numerical format (natural frequencies, i.e. X out of 100, 2 lifetime risk in both numerical format and graphical format (population figures, 3 lifetime risk and age-related risk in numerical format, 4 lifetime risk and age-related risk in both numerical format and graphical format, and 5 lifetime risk in percentages. Condition 6 is the control condition in which no intervention is given (usual care. Participants are unaffected women with a family history of breast cancer attending one of three participating clinical genetic centres in the Netherlands. Discussion The BRISC study allows for an evaluation of the effects of different formats of communicating breast cancer risks to counsellees. The results can be used to optimize risk communication in order to improve informed decision-making among women with a family history of breast cancer. They may also be useful for risk communication in other health-related services. Trial registration Current Controlled Trials ISRCTN14566836.

  5. Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community. (United States)

    Kobayashi, Yoko; Boudreault, Patrick; Hill, Karin; Sinsheimer, Janet S; Palmer, Christina G S


    Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers' unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience's needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design's effectiveness in recruiting a culturally and linguistically diverse sample. 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically-based locations (Place). English-users were

  6. Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community (United States)


    Background Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers’ unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience’s needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. Methods The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design’s effectiveness in recruiting a culturally and linguistically diverse sample. Results 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically

  7. Post-Session Authentication

    DEFF Research Database (Denmark)

    Ahmed, Naveed; Jensen, Christian D.


    . In this paper, we consider the case of post-session authentication, where parties authenticate each other at the end of their interactive session. This use of authentication is different from session-less authentication (e.g., in RFID) and pre-session authentication (e.g., for access control.) Post...

  8. "People Say It's a Little Uncomfortable": Prenatal Genetic Counselors' Use of Constructed Dialogue to Reference Procedural Pain. (United States)

    Gordon, Cynthia; Prince, Michele B; Benkendorf, Judith L; Hamilton, Heidi E


    Prenatal genetic counseling involves an exchange of information between counselors and clients, including verbal descriptions of the potential pain of invasive prenatal diagnosis procedures such as amniocentesis. This paper describes the use of one linguistic feature in one context. It considers how two counselors describe procedural pain in 17 prenatal genetic counseling sessions, audiotaped as part of a larger data-driven study using sociolinguistic methodologies to characterize the discourse of genetic counseling. Analysis reveals that "constructed dialogue," or reporting something another person said, is a strategy used frequently by the counselors for describing procedural pain. Examination of the content and form of the constructed dialogue uncovered three recurring patterns that relate to its functions in the sessions: (1) inclusion of colloquial vocabulary; (2) references to common experiences through similes; and (3) explicit downplaying of pain. This analysis suggests that the naturally occurring phenomenon of quoting the words of others can be used in genetic counseling to impart information while simultaneously reassuring the client and creating counselor-client rapport. The complex relationship between the use of constructed dialogue and the enactment of genetic counseling principles through talk is also discussed.

  9. Patients' interpretations of a counselling intervention for low back pain

    DEFF Research Database (Denmark)

    Angel, Sanne; Jensen, Lone Donbæk; Gonge, Birgitte Krøis


    persist. A Danish randomised controlled trial identified an effective counselling intervention on low back pain patients' physical function, bodily pain and sick leave. Counselling addressed experienced workplace barriers and physical activity. OBJECTIVE: The objective of the present study was to achieve...... of status interviews performed during the randomised controlled trial's intervention. ANALYSIS: Between two individual counselling sessions, all 110 participants were interviewed about their perspectives on adhering to their individual plans for reaching specific goals for adjustments at their workplace...





    Multicutural is a term used to describe one's view of the variety of life in the world, or cultural policy emphasizing their acceptance of diversity, and a wide range of cultures (multicultural) that exist in society regarding values, system, culture, customs and politics that they profess. The effectiveness of counseling depends on many factors the most important is the relation to each other, and mutual understanding between counselor and client. Cultural differences that exist in this coun...

  11. Premarital health counseling: A must. (United States)

    Puri, Sonia; Dhiman, Anupama; Bansal, Sagar


    Premarital Health Counseling (PMHC) is emerging as a growing trend worldwide. The couples are provided with accurate and unbiased information and assistance, who are planning to get marry with the aim of screening, educating, and counseling about nutritional disorders, communicable diseases, medical conditions, hereditary/genetic disorders, and guiding for a healthy pregnancy. Premarital screening and adequate counseling are essential for changing attitudes toward consanguineous marriage particularly in places where consanguineous and "tribal" marriages are common, resulting in a high incidence of genetic disorders. Although making PMHC obligatory in India may appear to be a very exciting and promising proposal, its implementation still has various ethical issues and other barriers that need to be addressed.

  12. Exercise on prescription: a randomized study on the effect of counseling vs counseling and supervised exercise

    DEFF Research Database (Denmark)

    Kragstrup, J.; Skovgaard, T.; Puggaard, L.


    The aim of this study was to compare short- (0-4 months) and long-term (0-10 months) effects of high-intensive Exercise on Prescription (EoP) intervention (counseling and supervised exercise) implemented in primary healthcare in a number of Danish counties with a low-intensive intervention...... (counseling) using maximal oxygen uptake (VO(2max)) as the primary outcome. The study was conducted as a randomized trial in 2005-2006 with a high and a low-intensive group. All the patients referred to the EoP scheme by their GP in the counties of Vejle and Ribe, Denmark, were eligible for the trial....... The high-intensive EoP group received 4 months of group-based supervised training and attended five motivational counseling sessions. The low-intensive group only attended four motivational counseling sessions. Three hundred and twenty-seven patients entered the EoP scheme, and 52 (16%) volunteered...

  13. When technological affordances meet interactional norms: the value of pre-screening in online chat counseling

    NARCIS (Netherlands)

    Stommel, Wyke; Molder, te Hedwig


    We present a conversation analysis of openings sequences of online text-based chat counseling. Particular about this chat counseling is that the clients made available their help question through pre-screening. The data consisted of 40 chat sessions with pre-screening and 34 sessions without pre-scr

  14. Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling. (United States)

    Petersen, Annabeth Høgh; Aagaard, Mads Malik; Nielsen, Henriette Roed; Steffensen, Karina Dahl; Waldstrøm, Marianne; Bojesen, Anders


    Accurate estimation of cancer risk in HBOC families often requires BRCA1/2 testing, but this may be impossible in deceased family members. Previous, testing archival formalin-fixed, paraffin-embedded (FFPE) tissue for germline BRCA1/2 variants was unsuccessful, except for the Jewish founder mutations. A high-throughput method to systematically test for variants in all coding regions of BRCA1/2 in archival FFPE samples of non-tumor tissue is described, using HaloPlex target enrichment and next-generation sequencing. In a validation study, correct identification of variants or wild-type was possible in 25 out of 30 (83%) FFPE samples (age range 1-14 years), with a known variant status in BRCA1/2. No false positive was found. Unsuccessful identification was due to highly degraded DNA or presence of large intragenic deletions. In clinical use, a total of 201 FFPE samples (aged 0-43 years) were processed. Thirty-six samples were rejected because of highly degraded DNA or failed library preparation. Fifteen samples were investigated to search for a known variant. In the remaining 150 samples (aged 0-38 years), three variants known to affect function and one variant likely to affect function in BRCA1, six variants known to affect function and one variant likely to affect function in BRCA2, as well as four variants of unknown significance (VUS) in BRCA1 and three VUS in BRCA2 were discovered. It is now possible to test for germline BRCA1/2 variants in deceased persons, using archival FFPE samples from non-tumor tissue. Accurate genetic counseling is achievable in families where variant testing would otherwise be impossible.

  15. Juvenile Diabetes and Rehabilitation Counseling. (United States)

    Stone, J. Blair; Gregg, Charles H.


    Severe complications of diabetes are more likely to occur with the juvenile diabetic and problems of psychosocial adjustment are recurring and difficult. Implications for the rehabilitation counselor are discussed in terms of employment considerations, the effects of complications, genetic counseling, and cooperation with other professionals.…

  16. Summaries of oral sessions at the XXI World Congress of Psychiatric Genetics, Boston, Massachusetts, 17-21 October 2013: state of the field

    NARCIS (Netherlands)

    Akpudo, H.; Aleksic, B.; Alkelai, A.; Burton, C.; Carillo Roa, T.; Chen, D.T.; Cheng, M.C.; Cocchi, E.; Davis, L.K.; Giori, I.G.; Hubbard, L.M.; Merikangas, A.; Moily, N.S.; Okewole, A.; Olfson, E.; Pappa, I.; Reitt, M.; Singh, A.B.; Steinberg, J.; Strohmaier, J.; Ting, T.T.; Hulzen, K.J.E. van; O'Shea, A.; DeLisi, L.E.


    The XXI World Congress of Psychiatric Genetics (WCPG), sponsored by the International Society of Psychiatric Genetics (ISPG), took place in Boston, Massachusetts, on 17-21 October 2013. Approximately 900 participants gathered to discuss the latest findings in this rapidly advancing field. The follow

  17. Incorporating Family Work into Individual Counseling: Establishing a Relationship with Families. ERIC Digest. (United States)

    Kaplan, David M.; Cole, Melody J.

    This digest provides an overview of basic family counseling concepts for counselors whose specialty is in an area other than marriage and family counseling. The author notes that there are two pivotal areas the counselor and client must address upon deciding to involve a family in the client's counseling sessions: how to get the family to come…

  18. Effects of Counselor Race and Counseling Approach on Asian Americans' Perceptions of Counselor Credibility and Utility (United States)

    Atkinson, Donald R.; And Others


    Two studies are described in which Asian Americans rated a counselor's performance in a simulated counseling session with an Asian American student. The counselor was rated as more credible and approachable when employing a directive counseling approach than when using a nondirective counseling approach. (Author/MFD)

  19. Collaborating with the Peace Corps to Maximize Student Learning in Group Counseling (United States)

    Lambert, Simone; Goodman-Scott, Emily


    This article explores a model partnership with a counseling education program and the Peace Corps. Counselor education students in a group counseling course developed and implemented a singular structured group session with clients not typically used (e.g., non-counseling students) to maximize student learning and implement group counseling…

  20. Paradoxical Interventions and the Counseling Process. (United States)

    McMillan, Douglas N.; Johnson, Mark E.


    Used analogue format to compare relative effects of two paradoxical interventions (symptom scheduling and negative consequences of change), a relaxation directive, and a session summary condition on clients' perceptions of a mental health counselor, counseling expectations, and attributions. Results indicated differential effects on perceptions of…

  1. Microteaching: a model for employee counseling education. (United States)

    Fiedler, K M; Beach, B L


    An instructional model for the implementation and use of videotape simulation to improve dietetic students' skills in employee counseling was explored in the coordinated undergraduate program at the University of Tennessee, Knoxville. A five-day intensive workshop was conducted for senior students in the program, utilizing the microteaching technique. Students and actors simulated an employee counseling session on videotape; then, a small group and a clinical instructor evaluated the session. Suggestions from these evaluations were used in a repeat of the situation on videotape. A team of experts randomly viewed all the situations, judging a significant improvement in composite scores for the workshop participants. The students indicated on a Self-Perception of Confidence (SPOC) scale that they felt a higher degree of comfort in handling potential employee counseling after completing the workshop. They were pleased with the workshop and suggested expansion of the technique to other phases of their dietetic education.

  2. Towards Reversible Sessions

    Directory of Open Access Journals (Sweden)

    Francesco Tiezzi


    Full Text Available In this work, we incorporate reversibility into structured communication-based programming, to allow parties of a session to automatically undo, in a rollback fashion, the effect of previously executed interactions. This permits taking different computation paths along the same session, as well as reverting the whole session and starting a new one. Our aim is to define a theoretical basis for examining the interplay in concurrent systems between reversible computation and session-based interaction. We thus enrich a session-based variant of pi-calculus with memory devices, dedicated to keep track of the computation history of sessions in order to reverse it. We discuss our initial investigation concerning the definition of a session type discipline for the proposed reversible calculus, and its practical advantages for static verification of safe composition in communication-centric distributed software performing reversible computations.

  3. Counseling Psychology and Professional School Counseling (United States)

    Pope, Mark


    This article provides a historical, political, and organizational analysis regarding counseling psychology's involvement in professional school counseling. Issues discussed include collaboration, curriculum and training, and professional identity, as well as the commonalities that bind counselor education/professional school counseling and…

  4. Factors for Personal Counseling among Counseling Trainees (United States)

    Byrne, J. Stephen; Shufelt, Brett


    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…

  5. Prenatal Genetic Counseling (For Parents) (United States)

    ... every physical and biological characteristic of that person. Humans have 46 chromosomes, arranged in pairs in every living cell of ... from each parent. This newly formed combination of chromosomes then copies itself ... science suggests that every human has about 25,000 genes per cell. An ...

  6. Prenatal Genetic Counseling (For Parents) (United States)

    ... are: Down syndrome cystic fibrosis sickle cell disease Tay-Sachs disease (a fatal disease affecting the central ... disorders, including cystic fibrosis, sickle cell anemia, and Tay-Sachs disease, cannot occur unless both the mother ...

  7. 686例遗传咨询者的染色体核型分析%Chromosome karyotype analysis of 686 subjects attending genetic counseling

    Institute of Scientific and Technical Information of China (English)

    张月; 张光谋


    目的 分析686例遗传咨询者的染色体异常与疾病的关系.方法 采用外周血淋巴细胞培养方法常规制备染色体标本,G显带进行核型分析.结果 686例遗传咨询者中检测出染色体异常93例(13.56%),其中常染色体异常63例,占7.36%,性染色体异常30例,占3.50%.遗传咨询者常见病因有不良孕产史、习惯性流产、无精子、少精子和弱精子、原发或继发闭经史、智力低下、不孕不育症、先天畸形、第二性征异常等.结论 染色体异常是引起生育障碍和智力低下的主要原因,对高危人群进行染色体检查,对临床指导优生及提高人口素质具有重要意义.%Objective To investigate the relationship between the chromosomal abnormalities and disease in 686 subjects attending genetic counseling. Methods Chromosome specimens were prepared by culture of lymphocytes in peripheral blood. The karyotype analysis was carried out with G banding. Results Among the 686 subjects, 93 were detected with chromosomal abnormalities (13.56%), including 63 of autosomal abnormality (7.36%), 30 of chromosome abnormality (3.50%). The common causes of disease for the subjects were history of abnormal pregnancy, habitual abor-tion, azoospermia, oligozoospermia and asthenospermia, primary or secondary amenorrhea, mental retardation, infertili-ty, congenital malformation, and abnormality in secondary sex characteristics. Conclusion The chromosomal abnor-mality is a major cause of fertility disorder and mental retardation. For high-risk population, chromosome examination has important significance for guiding eugenics in clinical and improving population quality.

  8. Applying the New Genetics (United States)

    Sorenson, James


    New developments in the prediction and treatment of genetic diseases are presented. Genetic counseling and the role of the counselor, and rights of individuals to reproduce versus societal impact of genetic disorders, are discussed. (RW)

  9. Team Exploratory Testing Sessions


    Soili Saukkoriipi; Ilkka Tervonen


    Exploratory testing (ET) is popular, especially among agile development teams. In this paper, we study the team aspect in the ET context and explore how to use ET in team sessions to complement other testing activities. The goal was to define a team exploratory testing (TET) session approach and to provide evidence that the approach is worth using. A TET session approach is defined by means of parameters, roles, and process. Also, instructions for using the approach are given. The team is the...

  10. 43例耳聋家庭再生育前的遗传学分析与指导%Prenatal genetic counseling and instruction for deaf families by genetic test

    Institute of Scientific and Technical Information of China (English)

    韩明昱; 黄莎莎; 王国建; 袁永一; 康东洋; 张昕; 戴朴


    Objective 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.Methods 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.Results 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.Conclusions 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

  11. The Choreography of Counseling. (United States)

    Gerber, Sterling K.; Purkey, William W.


    Compares counseling to the choreography of dance. Reviews other counseling structures, such as the scientific process, and then introduces the "choreography of counseling." Claims that counseling, as in a dance performance, involves an introduction, exploration, exposition, and resolution. Offers principles and techniques for success in each of…

  12. The Clinical Applications of Newborn Deafness Gene Screening and Genetic Counseling%新生儿聋病基因筛查及咨询的临床意义

    Institute of Scientific and Technical Information of China (English)

    高儒真; 陈晓巍; 历东东; 姜鸿


    目的:通过新生儿致聋基因突变筛查、遗传咨询及随访,分析新生儿常见遗传性耳聋基因的突变频率、类型及听力表型,探讨耳聋基因筛查联合新生儿听力筛查对漏筛风险的规避性及遗传咨询的应用范围和临床价值。方法分析北京市新生儿血样44200例,应用微阵列芯片法检测中国人常见的4个致聋基因的9个突变位点,对检出者进行随访并提供遗传咨询。结果本组新生儿耳聋基因突变检出率为4.26%(1884例);GJB2(1027例)与SLC26A4(617例)基因突变占比最高,总携带率为3.72%;致聋药物易感基因线粒体DNA基因突变率达0.25%(112例);明确单个耳聋基因纯合及复合性突变16例,同时携带不同基因突变个体21例;以可随访新生儿998例为进一步研究对象,建立并实践筛查阳性个体听力随访流程及遗传咨询规范。结论新生儿听力筛查联合耳聋基因筛查可有效提前确诊遗传性耳聋的时间;基因筛查可用于指导遗传咨询,通过建立病历追访和听力随访体系、掌握咨询要点,可避免、预防和减少耳聋的发生,并有效指导家族成员婚育。%Objective To determine the prevalence of deafness gene mutations in newborns and provide clinical experience for newborn genetic screening and effective genetic counseling.Methods The blood samples of 44200 newborns in Beijing were screened for hot spot mutations of GJB2,GJB3,SLC26A4 and MTRNR1 associated with hearing loss. The genetic screening results were comprehensively analyzed with hearing results in genetic counseling.Results 1 or 2 pathogenic mutations were identified in 1884(4.26%)individuals.Among them, mutations of GJB2 and SLC26A4 were commom with the rate of 3.72%.112 babies were found to carry the MTRNR1 mutation.16 compound heterozygotes and homozygotes were also identified. 21 newborns showed 2 mutations in 2 different genes.998 newborns visited

  13. Client Good Moments: An Intensive Analysis of a Single Session. (United States)

    Stalikas, Anastassios; Fitzpatrick, Marilyn


    An intensive analysis of a single counseling session conducted by Fritz Perls was carried out to examine relationships among client experiencing level, client strength of feeling, counselor interventions, and client good moments. The possibility that positive therapeutic outcome is related to the accretion of good moments is discussed. (JBJ)

  14. Cytogenetic analysis of 2881 genetic counseling patients from chenzhou district%郴州地区2881例遗传咨询者细胞遗传学分析

    Institute of Scientific and Technical Information of China (English)

    刘颖慧; 阳敏; 周明星; 黄艳群; 刘巧突


    ObjectiveDiscuss the relationship between peripheral blood chromosome abnormality and clinical diseases,and provide instruction for clinical diagnosis.Methodsconduct peripheral blood lymphocyte culture on 2881 cases of genetic counseling patients,and analyze karyotype through G-brand.ResultAmong 2881 cases of genetic counseling patients,there are 239 cases of karyotype of chromosome abnormality,and the abnormality rate is 8.30%.ConclusionVarious diseases such as hypophrenia,sexual abnormality,abnormal chromosome coupling are related to chromosome abnormality,and it is necessary to conduct chromosome examination on such group of people.%目的:探讨外周血染色体异常与临床疾病的关系,为临床诊断提供指导。方法对2881例遗传咨询者进行外周血淋巴细胞培养,经G显带分析核型。结果2881例遗传咨询者中发生239例染色体异常,异常率8.30%。结论智力低下、性发育异常、染色体异常配套等多种疾病与染色体异常有关,对此类人群进行染色体检查很有必要。

  15. The Public Poster Session (United States)

    Levine-Rasky, Cynthia


    This note describes the use of a student poster session as an innovative approach to student learning. The local context for the assignment is provided, followed by a description of the course for which the poster was prepared, details about the assignment including its evaluation, and practical considerations for planning a poster session. The…


    Institute of Scientific and Technical Information of China (English)


    @@ The counting-down clock is ticking:Beijing Olympic Games are just 4 months away.When China's "Two Sessions',the top political sessions,held in the national capital this spring,this heated topic has been inevitably stamped with the remarks among the CPPCC members and NPC deputies.

  17. Sex Education and Intellectual Disability: Practices and Insight from Pediatric Genetic Counselors. (United States)

    Murphy, Carly; Lincoln, Sharyn; Meredith, Stephanie; Cross, Elizabeth M; Rintell, David


    Intellectual disability (ID) with or without other anomalies is a common referral for genetic counseling. Sessions may include discussions of reproductive implications and other issues related to sex education. Patients with ID regularly meet barriers when trying to obtain sex education due to the misperceptions of others as being either asexual or that such education would promote inappropriate sexual behavior. In this pilot study, we surveyed genetic counselors to explore their experiences with being asked to provide sex education counseling and their comfort in doing so for patients with ID ages 9-17. Results were analyzed from 38 respondents. Caregivers and patients most frequently requested information on puberty, sex abuse prevention, and reproductive health. Genetic counselors were most comfortable when they could provide sex education counseling within the context of a particular condition or constellation of features. They were least comfortable when they lacked familiarity with the patient, caregiver, or the family's culture. The most frequently cited barriers that prevented genetic counselors from providing sex education counseling were lack of time, lack of training, the patient's ID being too profound, and a belief that genetic counselors should not be responsible for providing sex education counseling. While many respondents reported that providing sex education counseling is not considered within the scope of a genetic counselor's practice, they also noted that patients' families initiate discussions for which counselors should be prepared. Respondents indicated that resource guides specifically designed for use by genetic counselors would be beneficial to their practice. Genetic counselors have the opportunity to embrace the role of advocate and broach the issue of sexual health with caregivers and patients by directing them toward educational resources, if not providing sex education directly to effectively serve the needs of patients and

  18. Patient-guided counseling in the community pharmacy setting. (United States)

    Barnett, C W; Nykamp, D; Ellington, A M


    To test a new prescription counseling method termed "patient-guided counseling" (PGC) in community pharmacies. Post-test experimental design in which subjects were randomized to three groups. Six community pharmacies (three chain and three independent). Patients presenting new prescriptions. Patients were randomly assigned to one of three comparison groups. The PGC group was given a written prompt instructing them to write any questions they wished to ask about their prescription or their medical condition. The pharmacist then incorporated these questions into the subsequent verbal counseling. A second group was given a written prompt encouraging them to ask the pharmacist questions. This was followed by customary verbal counseling. A third group served as the control. No prompts were provided, but the pharmacist did provide customary verbal counseling. Patients' demographics, recall of medication information, and satisfaction with counseling. Patients were contacted by telephone 5 days after the start of drug therapy to measure compliance. Pharmacists rated their satisfaction with the information communicated and with their interactions with patients. Compared with customary verbal counseling, the PGC method was associated with more supplemental questions asked by the patient. Compared with the other two methods, PGC was associated with greater pharmacist satisfaction with the information communicated and slightly longer counseling sessions. No significant differences were found for patients' overall satisfaction with counseling, recall of information, and compliance. In the community pharmacy setting, PGC fosters patient participation in medication counseling, a necessary element for the provision of pharmaceutical care.

  19. Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine (United States)

    ... 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 ...

  20. Abstracts of SIG Sessions. (United States)

    Proceedings of the ASIS Annual Meeting, 1997


    Presents abstracts of SIG Sessions. Highlights include digital collections; information retrieval methods; public interest/fair use; classification and indexing; electronic publication; funding; globalization; information technology projects; interface design; networking in developing countries; metadata; multilingual databases; networked…

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

    Directory of Open Access Journals (Sweden)

    Omer OZER


    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

  2. Benefits of Required Counseling for Counseling Students (United States)

    Prosek, Elizabeth A.; Holm, Jessica M.; Daly, Cynthia M.


    Graduate students experience mental health distress. The authors investigated the benefits of required counseling services at a training clinic for students enrolled in counseling courses. Results indicated that after receiving services, students ("N" = 55) reported decreases in overall problems, depressive symptoms, and anxiety…

  3. Contextualising eating problems in individual diet counselling

    DEFF Research Database (Denmark)

    Kristensen, Søren Tange; Køster, Allan


    Health professionals consider diet to be a vital component in managing weight, chronic diseases and the overall promotion of health. This article takes the position that the complexity and contextual nature of individual eating problems needs to be addressed in a more systematic and nuanced way...... than is usually the case in diet counselling, motivational interviewing and health coaching. We suggest the use of narrative practice as a critical and context-sensitive counselling approach to eating problems. Principles of externalisation and co-researching are combined within a counselling framework...... sessions, exploration of the complex structures of food and eating with the client can provide agency by helping them navigate within the context of the problem. We also exemplify why a reflexive and critical approach to the way health is perceived by clients should be an integrated part of diet...

  4. Outplacement as Transition Counseling. (United States)

    Mirabile, Richard J.


    Describes outplacement counseling as a process that enables management to deal with the problem of the employee who must be released or the staff that must be reduced. Discusses the process of outplacement counseling, the stages of transition counseling, and techniques to be implemented. (BH)

  5. High Tech Counseling: Revisited (United States)

    Layne, Christina Mann; Hohenshil, Thomas H.


    This article includes a discussion of technology's use in counseling. It contains reviews and implications of 4 articles that appeared in the Journal of Technology in Counseling (JTC) and provides a discussion of the future of technology in the counseling profession.

  6. Outplacement as Transition Counseling. (United States)

    Mirabile, Richard J.


    Describes outplacement counseling as a process that enables management to deal with the problem of the employee who must be released or the staff that must be reduced. Discusses the process of outplacement counseling, the stages of transition counseling, and techniques to be implemented. (BH)

  7. 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). (United States)

    Joseph, Galen; Beattie, Mary S; Lee, Robin; Braithwaite, Dejana; Wilcox, Carolina; Metrikin, Maya; Lamvik, Kate; Luce, Judith


    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.

  8. Cytogenetic analysis of children with genetic counseling in Nantong region%南通地区遗传咨询患儿的细胞遗传学分析

    Institute of Scientific and Technical Information of China (English)

    王珊珊; 张建林; 张玉泉; 杨益梅; 张俊荣; 姚锋


    Objective:To investigate the risk f actors in children with genetic counseling in Nantong region and to discuss the relationship between the children and chromosomal abnormalities. Methods:The clinical diagnosis of 105 cases of mental retardation, congenital malformations, special face, mental retardation, short stature, genital abnormalities in chil-dren with peripheral blood lymphocyte culture and G-banding analysis. Results:50 cases of abnormal karyotypes in 105 cases of children with genetic counseling were detected. The detection rate was 47.6%. Among them, the chromosome number was abnormal in 38 cases, there appeared chromosome structural abnormality in 4 cases, chromosome polymor-phism in 6 cases and unknown diagnosis in 2 cases. 36 cases of trisomy 21 comprehensive syndrome in the abnormal karyotypes were found, and the detection rate was 72%.Mothers of children with gestational age in 20~29 years old were in the majority(63.04%);pregnancy and early pregnancy with harmful material contact history were seen in 51 cases (48.58%);the majority of their parents’ occupation was workers and farmers(68.58%). Conclusions:The abnormal chromosome detec-tion rate of the children with genetic counseling was high, and it was correlated with clinical phenotype. The abnormal causes of the mutation of the parental germ cells caused by the mutation of the environment, so that the chromosome ab-normality of the children was one of the main reasons for the genetic counseling. It was suggested that effective control and prevention of chromosome disease was necessary to improve the quality of the population.%目的:探讨南通地区遗传咨询患儿的发病因素及与染色体异常的关系。方法:对105例临床诊断为精神发育迟缓、先天畸形、特殊面容、智力低下、身材矮小、外生殖器异常的患儿进行外周血淋巴细胞培养,染色体G显带分析。结果:在105例遗传咨询患儿中,检出染色体异常核型50例(47

  9. 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...... decisions, while one experience the opposite. 10 students perceive the counseling as guiding and broaching of new perspectives. The results show nothing about abilities to adapt or increased self-knowledge....

  10. Time to talk: counselling for people with dysphasia. (United States)

    Ireland, C; Wotton, G


    In this small-scale qualitative study, 20 dysphasic people, including some with severe language impairments, were offered up to 20 sessions of individual counselling. The trained counsellors were a speech and language therapist and a teacher who had personal experience of dysphasia. The paper describes how the service was set up, and how it was evaluated through the use of interviews before, during and after the process of counselling. In general, participants valued the service and a number of positive outcomes were described. Negative reactions were largely due to problems with the setting, timing and organization of the counselling and to the presence of social problems which could not be addressed through counselling. A number of recommendations for setting up a counselling service for people with dysphasia can be drawn from this study. These are discussed in this paper, together with the issues arising from the collaboration between dysphasic and non-dysphasic researchers.

  11. Genetics (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  12. Self-Esteem and Vocational Self-Esteem Enhancement: A Group Counseling Program for University Students (United States)

    Aricak, O. Tolga


    This study is a group counseling program developed to enhance self-esteem and vocational self-esteem of university students. In this paper, a brief theoretical background, all sessions of the program and applications were presented. (Contains 14 footnotes.)

  13. You're a What? Genetic Counselor (United States)

    Mullins, John


    When it first emerged about 50 years ago, genetic counseling focused primarily on prenatal testing to detect genetic conditions. But counseling services have evolved to keep pace with a greater knowledge of genetics and wider application of genetic diagnostic testing. Today, there are several types of genetic counselors, and their expertise covers…

  14. [Focus on Siblings of Children with Chronic Illness or Disability - A Family Oriented Counselling Program]. (United States)

    Möller, Birgit; Schepper, Florian; Herrmann, Jessy; Gude, Marlies


    In the psychosocial support of families with a chronically ill or disabled child siblings are increasingly addressed as a target group for prevention and rehabilitation projects intending to reduce the risk for adverse health consequences. The following article presents a childfocused approach to family counselling as a short-term intervention. Ten flexibly applicable counselling core points covering commonly reported problems of affected siblings and their families are available - including the communication about the disease within the family or the expression of the sibling's feelings and needs. For this purpose an approach in specific counselling sessions has been determined which is used similarly by adept child and youth psychotherapists. The counselling approach is founded theoretically. Furthermore, the counselling approach provides guidance for the structured approach in the diagnosis of potential difficulties, the choice of core points and setting, the closure of counseling sessions as well as the recommendation of additional programs.

  15. Contextualising eating problems in individual diet counselling. (United States)

    Kristensen, Søren T; Køster, Allan


    Health professionals consider diet to be a vital component in managing weight, chronic diseases and the overall promotion of health. This article takes the position that the complexity and contextual nature of individual eating problems needs to be addressed in a more systematic and nuanced way than is usually the case in diet counselling, motivational interviewing and health coaching. We suggest the use of narrative practice as a critical and context-sensitive counselling approach to eating problems. Principles of externalisation and co-researching are combined within a counselling framework that employs logistic, social and discursive eating problems as analytic categories. Using cases from a health clinic situated at the Metropolitan University College in Copenhagen, we show that even if the structural conditions associated with eating problems may not be solvable through individual counselling sessions, exploration of the complex structures of food and eating with the client can provide agency by helping them navigate within the context of the problem. We also exemplify why a reflexive and critical approach to the way health is perceived by clients should be an integrated part of diet counselling.

  16. Multiparty Asynchronous Session Types

    DEFF Research Database (Denmark)

    Honda, Kohei; Yoshida, Nobuko; Carbone, Marco


    peers are directly abstracted as a global scenario. Global types retain the friendly type syntax of binary session types while specifying dependencies and capturing complex causal chains of multiparty asynchronous interactions. A global type plays the role of a shared agreement among communication peers...

  17. Abstracts of SIG Sessions. (United States)

    Proceedings of the ASIS Annual Meeting, 1995


    Presents abstracts of 15 special interest group (SIG) sessions. Topics include navigation and information utilization in the Internet, natural language processing, automatic indexing, image indexing, classification, users' models of database searching, online public access catalogs, education for information professions, information services,…

  18. The outreach sessions

    Energy Technology Data Exchange (ETDEWEB)

    Trache, Livius [Horia Hulubei National Institute for Physics and Nuclear Engineering, P.O. Box MG-6, 077125 Bucharest-Magurele (Romania)


    These are moderator’s remarks about the outreach day in the middle of the CSSP14, and in particular about the afternoon outreach session in round table format with the announced theme: “CERN at 60 and the internationalization of science”.

  19. Needs Session Outline. (United States)


    into two groups 5.5.2 Assign the most likely theme scenario to both groups 5.5.3 Each group selects a session recorder 5.5.4 Using Brainwriting in...of the two remaining theme scenarios. 5.5.10 Repeat steps (3) through (8) except that the group that used Brainwriting for the first scenario should

  20. 贵州省2 083例遗传咨询者的细胞遗传学研究和分析%Cytogenetical study and analysis on 2 083 cases of genetic counseling in Guizhou

    Institute of Scientific and Technical Information of China (English)

    张宏红; 莫澜; 李映雪; 周从容; 吴小平; 陈蔚清; 张惠; 鲜义辉; 赵宁; 冯燕梅; 吴朝霞


    目的:对贵州省2 083例遗传咨询者进行细胞遗传学研究和分析.方法:对受检者进行常规病史询问、体格检查、抽取静脉血1.5 ml进行淋巴细胞培养,中期染色体制片、G显带处理,每例患者镜F分别计数30个核型,分析核型3个以上,对异常者加大记数和分析量,并按人类细胞遗传学国际命名体制(ISCN,1985)的标准命名.结果:在2 083例遗传咨询中不良孕产史者840例;不孕不育者631例;性发育异常者108例;原发性闭经者90例;智力低下儿241例;孕前进行优生咨询者173例;其中检出染色体核型正常者1 954例;异常者129例,占6.19%.129例异常者中因妊娠胎儿丢失者47例;不孕不育者27例;性发育异常者13例;原发性闭经者11例;智力低下儿29例;孕前进行优生咨询者2例.结论:不良孕产史、不孕不育是遗传咨询最常见的原因,其染色体异常又以平衡易位为主.性发育异常者,一般以第二性征发育不良为就诊原因,异常染色体核型主要为47,XXY.原发性闭经患者主要为Turner综合征.智力低下儿大部分为21-三体综合征患者.因此,应积极宣传推广孕前进行优生遗传咨询,及时了解染色体异常情况,并参与产前诊断可选择性生育健康后代.%Objective: To study and analyze cytogenetics of 2 083 cases of genetic counseling in Guizhou. Methods: The cases received conventional medical history inquiry and physical examination, 1.5 milliliters venous blood were taken for lymphocyte culture, metaphase chromosome preparation section, G -banding technique was performed; 30 karyotypes were counted under microscope for each case,more than 3 karyotypes were analyzed, the count and analytical dose were increased for the cases with abnormal results, naming was performed according to ISCN (1985) . Results: Among 2 083 cases of genetic counseling, 840 cases had the history of abnormal pregnancy,631 cases were infertile, 108 cases suffered from sexual

  1. Developing culturally sensitive cancer genetics communication aids for African Americans. (United States)

    Baty, Bonnie Jeanne; Kinney, Anita Yeomans; Ellis, Sara Marie


    The goal of this project was to develop educational materials to communicate genetic health information in a culturally sensitive manner. These materials were designed to communicate information about cancer risk, genetic testing options, and health management options in an African American kindred with a known BRCA1 mutation. Educational materials were pilot-tested in four African American focus groups varying in socioeconomic status and gender. The audiotaped focus groups consisted of presentation of the educational materials, followed by a feedback session led by an African American facilitator. Qualitative analysis of the focus group transcripts identified important themes and the educational materials were revised in response to the participants' suggestions. The products included a booklet and a flip chart for use in educational sessions. Focus group participants recommended a substantial reduction in technical detail, and recommended that information be personalized and made relevant to the lives of the target population. Other critical themes included the importance of building trust in the medical system and avoiding words and images that have strong negative associations in the African American community. Strategies that were successful included nontechnical images to explain genetic concepts, clip art images to energize and personalize word slides, vibrant color, identifiably African American figures, and the development of themes relevant to many African Americans. The use of these materials in an ongoing study offering BRCA1 counseling and testing to a large, rural Louisiana-based kindred will provide additional feedback about the effectiveness of the culturally tailored genetic education and counseling materials.

  2. Pesquisaje y dilema del asesoramiento genético en parejas de riesgo de anemia a hematíes falciformes Screening and dilemma of the genetic counselling in couples at risk for sickle cell anemia

    Directory of Open Access Journals (Sweden)

    Mabel Domínguez Mena


    Full Text Available Se realizó un estudio descriptivo en la Consulta de Desarrollo de la Ginecología del municipio La Lisa, en el período comprendido de enero de 1999 hasta diciembre de 2003. La muestra la conformaron 338 embarazadas portadoras de anemia a hematíes falciformes, a las que se les brindó asesoramiento genético que incluyó la repetición del estudio de electroforesis de hemoglobina y la realización al esposo. Los datos fueron procesados en el cálculo porcentual. Se detectaron 28parejas de riesgo (7,4 %, de las cuales 21 (75, 0 % optaron por el diagnóstico prenatal de hemoglobina fetal. Se encontraron 4 fetos con anemia a hematíes falciformes (19 % y 9 portadores (42,8 %. No se realizaron diagnóstico prenatal 7 pacientes (25 %, de ellas 5 (71,4 % por edad gestacional avanzada y 2 (28, 5 % por negarse a la realización del proceder médico. El asesoramiento genético fue no directivo, respetando las decisiones personales, confiabilidad, explicando la relación riesgo/beneficio, y obteniendo en todos los casos el consentimiento informado para el diagnóstico prenatal.A descriptive study was undertaken at the Office of Genetics Development of La Lisa municipality from January 1999 to December 2003. The sample was composed of 338 pregnant women carriers of sickle cell anemia that received genetical counselling, which included the conduction of hemoglobin electrophoresis in the expectants and their husbands. The data were processed by percentage calculation. 28 risk couples were detected (7.2 %, of which 21 (75 % chose the prenatal diagnosis of fetal hemoglobin. 4 fetoes with sickle cell anemia (19 % and 9 carriers (42.8 % were found. 7 patients did not have prenatal diganosis (25 %, 5 of them (71.4 % due to advanced gestational age and 2 (28.5 % for rejecting to do so. The genetical counselling was not directive. The personal decisions were respected and reliability was guaranteed. The risk/benefit relation was explained and in all cases the

  3. 江门地区3782例遗传咨询者外周血染色体核型分析%Jiangmen city 3782 cases of peripheral blood chromosome analysis for genetic counseling

    Institute of Scientific and Technical Information of China (English)

    谢志威; 张晶; 李卫凯


    Objective:To study the relationship between abnormal of chromosome of people of geneic counseling and diseases by analyzing the chromosomal karyotype in patients of genetic counseling.Methods:To collect peripheral blood samples.Chromosome specimens were made using routine culture of peripheral blood lymphocytes.The G-band technique was used in the cytogenetical analysis.Results:345 cases of chromosome abnormalities (9.12%) were detected in 3782 genetic consultants.There were 91 sex chromosome abnormalities (27%) and 254 autosomal abnormalities (73%) Conclusion:Chromosome abnormality is a considerable reason for primary or secondary amenorrhea,spontaneous abortion and stillbirth history,mental and sexual development abnormity.Chromosomes detection is necessary for the genetic consultant.%目的 通过对遗传咨询者的染色体核型分析,探讨染色体异常与疾病的关系.方法 抽取遗传咨询者外周血进行培养,收获染色体,G显带,显微镜下分析核型.结果 2009年到2011年来我院就诊的3782例遗传咨询者中检出异常核型345例,异常核型检出率为9.12%,其中性染色体异常91例,占27%;常染色体异常254例,占73%.结论 染色体异常是导致性发育异常、智力低下、反复流产、生育畸形儿、不孕症等的重要原因之一,对有临床症状的患者进行染色体检查十分必要,可为优生优育和产前诊断提供依据.

  4. Clinical and ethical implications of genetic counselling in familial adenomatous polyposis Implicaciones clínicas y éticas del consejo genético en la poliposis adenomatosa familiar

    Directory of Open Access Journals (Sweden)

    A. Fernández-Suárez


    Full Text Available The association of specific genetic disturbances with the development of hereditary cancer helps us to understand the risk of suffering from it, the possibility of an earlier diagnosis, and the treatment and prevention of this disease. Familial adenomatous polyposis (FAP is a pre-neoplastic syndrome characterized by the presence of hundreds of adenomatous polyps in the colon, which develop into a carcinoma. FAP can be diagnosed using sequencing techniques to detect mutations in the germinal line of the APC (adenomatous polyposis coli gene. The genetic diagnostic approach in families with FAP, previously followed up in the Gastrointestinal Clinic, has both advantages and disadvantages, and places us nearer the disease and patient. Disclosing the results of this genetic test entails relevant problems in clinical practice, which affect the health field and raise legal and ethical issues, along with the familial, occupational, and social implications that knowing the genetic status can have on the patient. Genetic analysis is rare in normal clinical practice, which involves errors in the interpretation of the results obtained, and during the process of genetic counselling. Specialized multidisciplinary units are necessary for the management of patients with FAP undergoing analysis and appropriate genetic counselling, thus providing an individualized service. The creation of FAP registers and protocols for this healthcare process should optimize the management of these patients and their families.La asociación de determinadas alteraciones genéticas con la aparición de cáncer hereditario, nos permite conocer el riesgo de padecerlo, posibilitando el diagnóstico precoz, el tratamiento y la prevención de la enfermedad. La poliposis adenomatosa familiar (PAF es un síndrome preneoplásico que se caracteriza por la presencia de cientos de pólipos adenomatosos en colon, que evolucionarán hacia carcinoma. La PAF puede ser diagnosticada mediante t

  5. Effective School Counseling Teams


    Lilley, Stacey Custer


    Despite much attention given to effective teams in the workplace, school counseling teams have been neglected in the research. The primary purpose of this mixed methods study was to learn what characteristics secondary counselors perceive contribute to an effective school counseling team. The first research phase conducted six team interviews; themes emerging from the interviews yielded the development of the Effective School Counseling Team Questionnaire (ESCTQ). The following research quest...

  6. Virginia Tech's Cook Counseling Center receives international counseling accreditation


    DeLauder, Rachel


    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.

  7. Development and Initial Psychometrics of Counseling Supervisor's Behavior Questionnaire (United States)

    Lee, Ahram; Park, Eun Hye; Byeon, Eunji; Lee, Sang Min


    This study describes the development and psychometric properties of the Counseling Supervisor's Behavior Questionnaire, designed to assess the specific behaviors of supervisors, which can be observed by supervisees during supervision sessions. Factor structure, construct and concurrent validity, and internal consistency reliability of the…

  8. The Freshman Odyssey: Classical Metaphors for Counseling College Students. (United States)

    Sandoz, Jeff

    This paper highlights the use of analogies and metaphors in counseling sessions with a focus on the college freshman experience as a living, contemporary example of how clients may experience mythic themes in their lives. Drawing from the ideas of Joseph Campbell, characters found in classical Greek mythology, as well as contemporary myths as…

  9. Simulation based Virtual Learning Environment in Medical Genetics Counseling: An example of Bridging the Gap between Theory and Practice in Medical Education

    DEFF Research Database (Denmark)

    Makransky, Guido; Bonde, Mads Tvillinggaard; Wulff, Julie S. G.


    Background: Simulation based learning environments are designed to improve the quality of medical education by allowing students to interact with patients, diagnostic laboratory procedures, and patient data in a virtual environment. However, few studies have evaluated whether simulation based...... learning environments increase students’ knowledge, intrinsic motivation, and self-efficacy, and help them generalize from laboratory analyses to clinical practice and health decision-making. Methods: An entire class of 300 University of Copenhagen first-year undergraduate students, most with a major...... in medicine, received a 2-hour training session in a simulation based learning environment. The main outcomes were pre- to post- changes in knowledge, intrinsic motivation, and self-efficacy, together with post-intervention evaluation of the effect of the simulation on student understanding of everyday...

  10. The 'reformation' of counselling

    Directory of Open Access Journals (Sweden)

    G.A. Lotter


    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.

  11. Cytogenetic analysis of 546 children for genetic counseling in Linyi%临沂地区546例遗传咨询儿童的细胞遗传学分析

    Institute of Scientific and Technical Information of China (English)



    Objective: This study was designed to investigate the incidence and types of abnormal karyotype in genetic counseling children, and confer the relationship between chromosomal abnormalities and disease emergence and development. Methods: The peripheral blood lymphocytes were cultured and analyzed by the G - band technique, or C - band technique when necessary. Results: The chromosomal analysis was made in 546 genetic counseling chilrdren with the reason of mental retardation, growth retardation, Hy-pospadias, Hermaphroditism, Cryptorchidism, congenital malformation etc. We found 380 cases of abnormal karyotype with 29 types, the percent is 69. 6 % . Thereinto, 300 cases were chromosomal numerical abnormality, this percent is 78. 95% , 31 cases were chromosome structural abnormalities, the percent is 8. 16% , 3 cases were both with numerical and structural abnormalities, the percent is 0. 79%. There were 46 cases of Hermaphroditism in abnormal karyotypes, the percent is 12. 1% . Conclusions; Chromosome malformation is one of the important reasons of birth defects. It is very necessary to give chromosomal analysis to genetic counseling chidren.%目的 研究临沂地区儿童遗传咨询患者中染色体异常核型的频率和类型,探讨染色体异常与疾病发生、发展的关系,为优生优育、降低出生缺陷、提高人口素质服务.方法 采用外周血淋巴细胞染色体培养技术,行G显带,必要时进行C显带检查,显微镜下进行核型分析.结果 检查546例遗传咨询儿童染色体,就诊原因主要为智力低下、生长发育迟缓、尿道下裂、两性畸形、隐睾及其他先天畸形等,共检出异常染色体核型380例(29种核型),检出率69.60%.其中染色体数目异常300例,占异常核型的78.95%;结构异常31例,占异常核型的8.16%;结构异常合并数目异常3例,占异常核型的0.79%;真、假两性畸形46例,占异常核型的12.10%.结论 染色体畸变是引起儿童出

  12. Genetic counselling and testing in cardiomyopathies : a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

    NARCIS (Netherlands)

    Charron, Philippe; Arad, Michael; Arbustini, Eloisa; Basso, Cristina; Bilinska, Zofia; Elliott, Perry; Helio, Tiina; Keren, Andre; McKenna, William J.; Monserrat, Lorenzo; Pankuweit, Sabine; Perrot, Andreas; Rapezzi, Claudio; Ristic, Arsen; Seggewiss, Hubert; van Langen, Irene; Tavazzi, Luigi


    Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general i

  13. Malpractice in Counseling Neuropsychology. (United States)

    Woody, Robert Henley


    Responds to earlier four articles on integration of counseling psychology and neuropsychology by noting that neuropsychology occurs in settings with high risk of legal complaints. Contends that aspiration to press counseling psychology toward clinical neuropsychology should be filtered through consideration for legal risk. Explores legal…

  14. Counseling in Singapore (United States)

    Yeo, Lay See; Tan, Soo Yin; Neihart, Maureen F.


    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…

  15. Perioperative counseling in children

    Directory of Open Access Journals (Sweden)

    Ioannis Koutelekos


    Full Text Available Counseling is a part of professional role of nurses and a prerequisite for holistic care. Aim: The aim of the present study was to review the literature about Counseling of children that undergo surgery. Material and method: The methodology οf this study included bibliography research from both the review and the research literature, between 2005-2009 mainly in the pubmed data base which referred to Counseling of children that undergo surgery, using the key words: Counseling, perioperative treatment, holistic care . Results: In the literature it is cited that counseling is provided by well trained and balanced individuals that have communication skills. Prerequisite of effective counseling is Conversation, where the nurse-consultant after elaborate listening proposes remarks, proposals, in order to enhance self-image, self-knowledge and self-esteem of the child and improve its’ personal emotional state. Perioperative counseling procedure as a part of the holistic care of children should follow and individualized approach either on preoperative and postoperative stage. Conclusion: Ultimate goal of effective counseling to children that undergo surgery is to improve the quality of provided care and increase the degree of satisfaction of hospitalized children and their families.

  16. Crisis Counseling: An Overview (United States)

    Sandoval, Jonathan; Scott, Amy Nicole; Padilla, Irene


    Psychologists working in schools are often the first contacts for children experiencing a potentially traumatizing event or change in status. This article reviews basic concepts in crisis counseling and describes the components of psychological first aid. This form of counseling must be developmentally and culturally appropriate as well as…

  17. Islamic approach in counseling. (United States)

    Hanin Hamjah, Salasiah; Mat Akhir, Noor Shakirah


    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.

  18. Counseling with Exceptional Children (United States)

    Tarver-Behring, Shari; Spagna, Michael E.


    Children and adolescents with disabilities are an extremely heterogeneous group of diverse learners, each with unique learning strengths and needs. Often misunderstood and frequently less served by the counseling profession, these children and adolescents need counseling services just as much as, if not more than, other children. Federal…

  19. Selfishness, Greed, and Counseling. (United States)

    Farrugia, David


    Although the concepts of greed and selfishness have often been used in discussions about human nature, there seems to be little attention to these characteristics in the disciplines of psychology and counseling. Considers characteristics of greed and selfishness as encountered in counseling from a multidisciplinary perspective and identifies…

  20. High Tech Counseling. (United States)

    Hohenshil, Thomas H.


    Includes a discussion of technology's use in counseling at the beginning of the new millennium. Contains reviews and implications of several articles that appeared in the first issue of the "Journal of Technology in Counseling" and some recent technology related developments by the Association for Counselor Education and Supervision and…

  1. Malpractice in Counseling Neuropsychology. (United States)

    Woody, Robert Henley


    Responds to earlier four articles on integration of counseling psychology and neuropsychology by noting that neuropsychology occurs in settings with high risk of legal complaints. Contends that aspiration to press counseling psychology toward clinical neuropsychology should be filtered through consideration for legal risk. Explores legal…

  2. Publishing International Counseling Articles (United States)

    Hohenshil, Thomas H.; Amundson, Norman E.


    This article begins with a rationale for including international articles in the "Journal of Counseling & Development." Then, 2 general categories of international articles are described. First are articles that provide a general overview of counseling in a particular country. The 2nd category is more general and might involve international…

  3. Narrative Dietary Counseling

    DEFF Research Database (Denmark)

    Søndergaard Jakobsen, Nina; Hennesser, Yvonne; Kaufmann, Lisbeth


    Using cases and empirical data from a research and development project at a Danish prevention center, this study explores whether and how the use of narrative dietary counseling can strengthen dietitians' relationships and collaboration with clients who are chronically ill. The results of the study...... dietary counseling empowered clients and improved relationship building and collaboration between client and dietitian....

  4. Distrofia miotônica tipo 1 em pacientes com catarata: diagnóstico molecular para triagem e aconselhamento genético Myotonic dystrophy type 1 in cataract patients: Molecular diagnosis for screening and genetic counseling

    Directory of Open Access Journals (Sweden)

    María Verónica Muñoz Rojas


    Full Text Available OBJETIVOS: Detectar novos pacientes portadores da mutação e pré-mutação da DM1, entre pacientes com catarata e realizar aconselhamento genético. MÉTODOS: Foi estudado o DNA de 60 pacientes, por meio da análise por reação em cadeia de polimerase. Este estudo foi realizado no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto e os pacientes foram selecionados a partir dos atendimentos realizados no Ambulatório de Catarata do Departamento de Oftalmologia, entre 01/01/1982 a 30/06/1995. Os critérios de seleção foram pacientes com menos de 55 anos, com catarata bilateral, sem fator causal que justificasse a lesão, exceto por diabete melito tipo 2 com ou sem sinais neuromusculares sugestivos de distrofia miotônica. RESULTADOS: Foram encontrados 3 pacientes com a mutação completa, correspondendo a 5% da amostra. Nenhum portador da pré-mutação foi encontrado. A partir dos pacientes diagnosticados, outros familiares afetados foram detectados. CONCLUSÕES: Este estudo enfatiza a importância da triagem de distrofia miotônica tipo 1 (DM1 entre pacientes com catarata, e mostra, também, a importância do aconselhamento genético destes pacientes.PURPOSE: To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling. METHODS: We studied the DNA of 60 selected cataract patients through polymerase chain reaction analysis. This study was performed at the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto" where selected patients had been examined at the Cataract Outpatient Clinic from 01/01/1982 to 30/06/1995. Selection criteria were age under 55 with no obvious precipitating factor, except diabetes mellitus type 2, with or without neuromuscular signs suggestive of myotonic dystrophy. RESULTS: Three patients were found to have a full mutation corresponding to 5% of the group. Additional affected individuals were found among patients' relatives. No

  5. Effectiveness of group counselling for smoking cessation in hospital staff

    Directory of Open Access Journals (Sweden)

    A. Schoonis


    Full Text Available Smoking prevalence among hospital staff is still considerable. It is well known that smoking cessation is difficult to establish without any help. Group counselling is effective for smoking cessation. In 2004, therefore, we decided to offer group counselling for smoking cessation to our hospital staff. (1 To assess the efficacy of group counselling given by a multidisciplinary team of healthcare professionals. (2 To determine the quit rate after group counselling in hospital staff. The program is based on 10 group sessions of 90 min each. Each group contains a maximum of 16 participants. The group sessions were led by a nurse specialized in smoking cessation and consisted of education and behavioural interventions provided by health care professionals (respiratory physician, psychologist and a dietician. To improve smoking cessation motivation, spirometry (FEV1 and FVC and exhaled CO were measured both at the start and at the end of the group counselling. In total, 38 participants of 3 different groups entered group counselling. The mean age was 48 years, and 71% was female. They smoked an average of 20 cigarettes per day. Based on exhaled CO measurements and self-reports, smoking cessation, the quit rates after 6 months, 1 year and 2 years were, 27/35 (77%, 25/35 (72% and 23/35 (66%, respectively. Group counselling program on smoking cessation in hospital staff based on 10 group sessions was able to induce a remarkably high amount of quitters. The hospital setting offered the opportunity to meet the group participants frequently afterwards, what might have helped in keeping the quitting results at about the same level, even after 2 years’ follow-up.

  6. Session: Hard Rock Penetration

    Energy Technology Data Exchange (ETDEWEB)

    Tennyson, George P. Jr.; Dunn, James C.; Drumheller, Douglas S.; Glowka, David A.; Lysne, Peter


    This session at the Geothermal Energy Program Review X: Geothermal Energy and the Utility Market consisted of five presentations: ''Hard Rock Penetration - Summary'' by George P. Tennyson, Jr.; ''Overview - Hard Rock Penetration'' by James C. Dunn; ''An Overview of Acoustic Telemetry'' by Douglas S. Drumheller; ''Lost Circulation Technology Development Status'' by David A. Glowka; ''Downhole Memory-Logging Tools'' by Peter Lysne.

  7. Session: Reservoir Technology

    Energy Technology Data Exchange (ETDEWEB)

    Renner, Joel L.; Bodvarsson, Gudmundur S.; Wannamaker, Philip E.; Horne, Roland N.; Shook, G. Michael


    This session at the Geothermal Energy Program Review X: Geothermal Energy and the Utility Market consisted of five papers: ''Reservoir Technology'' by Joel L. Renner; ''LBL Research on the Geysers: Conceptual Models, Simulation and Monitoring Studies'' by Gudmundur S. Bodvarsson; ''Geothermal Geophysical Research in Electrical Methods at UURI'' by Philip E. Wannamaker; ''Optimizing Reinjection Strategy at Palinpinon, Philippines Based on Chloride Data'' by Roland N. Horne; ''TETRAD Reservoir Simulation'' by G. Michael Shook

  8. ICALEPS 2005 : opening session

    CERN Multimedia

    Maximilien Brice


    ICALEPCS 2005, the tenth International Conference on Accelerator and Large Experimental Physics Control Systems, will be held in Geneva, Switzerland, 10-14 Oct. 2005 at the International Conference Center Geneva (CICG). ICALEPCS 2005 thus falls in the year that UNESCO has declared the "World Year of Physics". ICALEPCS covers all aspects of control and operation of Experimental Physics facilities such as particle accelerators, particle detectors, optical telescopes, radio telescopes, nuclear fusion facilities like Tokamaks, nuclear reactors, lasers, etc .... Opening session by . A. Daneels (CERN): Introducting ICALEPCS 2005 . C.Lamprecht (Republic & State of Geneva): Welcome speech . J. Lister (EPFL): Welcome speech . J. Engelen (CERN): The machine and experiment challenges of LHC

  9. Impact of Pharmacist Counselling on Clozapine Knowledge

    Directory of Open Access Journals (Sweden)

    Ciara Ní Dhubhlaing


    Full Text Available Clozapine is the only antipsychotic with evidence for efficacy in treatment of resistant schizophrenia but it carries a high side effect burden. Patient information is provided but may be poorly retained. This study aims to examine the impact of pharmacist counselling upon patient knowledge of clozapine. Outpatients, aged 18 years and over, attending St. Patrick’s University Hospital, Dublin, participated in this study between June and August 2015. The intervention consisted of pharmacist counselling on two occasions one month apart. Knowledge was assessed using a 28-point checklist devised from the currently available clozapine patient information sources, at baseline and after each counselling session. Ethics approval was obtained. Twenty-five participants (40% female; mean age 45.1 years, SD 9.82; 64% unemployed, 28% smokers showed an improvement in knowledge scores of clozapine from baseline to postcounselling on each occasion with an overall improvement in knowledge score, from baseline to postcounselling at one month, of 39.43%; p<0.001. This study adds to the evidence that interventions involving pharmacist counselling can improve patient knowledge, whilst the specific knowledge gained relating to recognition of side effects may help patients towards more empowerment regarding their treatment.

  10. A dyadic study of multicultural counseling competence. (United States)

    Dillon, Frank R; Odera, Lilian; Fons-Scheyd, Alia; Sheu, Hung-Bin; Ebersole, Ryan C; Spanierman, Lisa B


    Using the Kenny, Kashy, and Cook (2006) one-with-many method, we investigated client and counselor reports of counselors' level of multicultural counseling competence (MCC) across 4 therapy sessions at a university counseling center. Specifically, we analyzed the association between counselor MCC and client psychological well-being among 133 clients of color receiving psychotherapy from 24 counselors. We found that both client and counselor perspectives suggested that some counselors possessed generally higher MCC than others. Counselors' self-assessments of MCC, however, did not relate with their clients' assessments of counselor MCC-replicating findings from past studies of MCC. On average, counselors whose clients generally perceived them as more multiculturally competent did not report improved psychological well-being at the fourth session. Likewise, counselors who generally reported more MCC did not have clients who improved more in psychological well-being than would be expected over 4 sessions. Notably, at the dyad-level, clients who rated their counselor more highly on MCC than their counselors' other clients tended to report greater improvement in well-being. Suggestions for future MCC research involving dyadic analytic designs are described. (PsycINFO Database Record

  11. Discernment Counseling for "Mixed-Agenda" Couples. (United States)

    Doherty, William J; Harris, Steven M; Wilde, Jason L


    This article describes discernment counseling, an approach to working with couples where one partner is leaning toward divorce and the other wants to preserve the relationship and work on it in couples therapy. These "mixed-agenda" couples are common in clinical practice but have been neglected in the literature. The goal of discernment counseling is clarity and confidence regarding the next steps for the relationship, based on a deeper understanding of each partner's contributions. Sessions emphasize individual conversations with each partner. An analysis of 100 consecutive cases found that about half of the couples chose to start couples therapy in order to reconcile, with most of the rest choosing the divorce path. Longer term follow-up information is also presented.


    Directory of Open Access Journals (Sweden)

    Alejandra Gajardo Ugás


    Full Text Available Las enfermedades de origen genético causan en la actualidad cerca de un 34% de los decesos en los menores de un año. El conocimiento obtenido desde el inicio del Proyecto Genoma Humano ha facilitado herramientas sobre cómo prevenirlas y curarlas. Entre aquéllas se incluye el consejo genético, que debe proporcionar las bases para una decisión informada sobre la gestación de un niño. Estas nuevas tecnologías imponen situaciones éticas cada vez más complejas y cotidianas. ¿Qué hacer con la información que se obtiene? ¿Puede usarse para curar enfermedades genéticas? ¿Cómo promover y cautelar el empleo ético de esta información? En este artículo se presentan las bases del consejo genético y sus implicancias éticas desde una perspectiva personalistaAs enfermidades de origem genética causam na atualidade cerca de 34% de mortes em menos de um ano. O conhecimento obtido desde o início do Projeto Genoma Humano, nos forneceu ferramentas a respeito de como preveni-las e curá-las. Entres outras se inclui o aconselhamento genético, que deve fornecer as bases para uma decisão informada a respeito da gestação de um bebê. Estas novas tecnologias trazem situações éticas cada vez mais complexas e corriqueiras. O que fazer com a informação que se obtêm? Pode-se usar para curar enfermidades genéticas? Como promover e com cuidado e cautela a respeito da utilização ética desta informação. Neste artigo são apresentadas as bases do Aconselhamento Genético e suas implicações éticas a partir de uma perspectiva personalistaDiseases of genetic origin presently cause around 34% of the deaths of minors under a year old. The knowledge obtained since the Human Genome Project begun has provided tools for prevention and cure. Among them genetic counseling is included, which must provide the basis for an informed decision over child gestation. These new technologies imply more and more usual and complex ethical issues. What to do

  13. Medication counselling: physicians' perspective. (United States)

    Bonnerup, Dorthe Krogsgaard; Lisby, Marianne; Eskildsen, Anette Gjetrup; Saedder, Eva Aggerholm; Nielsen, Lars Peter


    Medication reviews have the potential to lower the incidence of prescribing errors. To benefit from a medication review, the prescriber must adhere to medication counselling. Adherence rates vary from 39 to 100%. The aim of this study was to examine counselling-naive hospital physicians' perspectives and demands to medication counselling as well as study factors that might increase adherence to the counselling. The study was conducted as a questionnaire survey among physicians at Aarhus University Hospital, Denmark. The questionnaire was developed based on focus group interviews and literature search, and was pilot-tested among 30 physicians before being sent to 669 physicians. The questionnaire consisted of 35 items divided into four categories: attitudes (19 items), behaviours (3 items), assessment (8 items) and demographics (5 items). The response rate was 60% (400/669). Respondents were employed at psychiatric, medical or surgical departments. Eighty-five per cent of respondents agreed that patients would benefit of an extra medication review, and 72% agreed that there was a need for external medication counselling. The most important factor that could increase adherence was the clinical relevance of the counselling as 78% rated it of major importance. The most favoured method for receiving counselling was via the electronic patient record.

  14. Counselees' Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study. (United States)

    Sweet, Kevin; Hovick, Shelly; Sturm, Amy C; Schmidlen, Tara; Gordon, Erynn; Bernhardt, Barbara; Wawak, Lisa; Wernke, Karen; McElroy, Joseph; Scheinfeldt, Laura; Toland, Amanda E; Roberts, J S; Christman, Michael


    Genomic applications raise multiple challenges including the optimization of genomic counseling (GC) services as part of the results delivery process. More information on patients' motivations, preferences, and informational needs are essential to guide the development of new, more efficient practice delivery models that capitalize on the existing strengths of a limited genetic counseling workforce. Semi-structured telephone interviews were conducted with a subset of counselees from the Coriell Personalized Medicine Collaborative following online receipt of multiple personalized genomic test reports. Participants previously had either in-person GC (chronic disease cohort, n = 20; mean age 60 years) or telephone GC (community cohort, n = 31; mean age 46.8 years). Transcripts were analyzed using a Grounded Theory framework. Major themes that emerged from the interviews include 1) primary reasons for seeking GC were to clarify results, put results into perspective relative to other health-related concerns, and to receive personalized recommendations; 2) there is need for a more participant driven approach in terms of mode of GC communication (in-person, phone, video), and refining the counseling agenda pre-session; and 3) there was strong interest in the option of follow up GC. By clarifying counselees' expectations, views and desired outcomes, we have uncovered a need for a more participant-driven GC model when potentially actionable genomic results are received online.

  15. Orchestrated Session Compliance

    Directory of Open Access Journals (Sweden)

    Franco Barbanera


    Full Text Available We investigate the notion of orchestrated compliance for client/server interactions in the context of session contracts. Devising the notion of orchestrator in such a context makes it possible to have orchestrators with unbounded buffering capabilities and at the same time to guarantee any message from the client to be eventually delivered by the orchestrator to the server, while preventing the server from sending messages which are kept indefinitely inside the orchestrator. The compliance relation is shown to be decidable by means of 1 a procedure synthesising the orchestrators, if any, making a client compliant with a server, and 2 a procedure for deciding whether an orchestrator behaves in a proper way as mentioned before.

  16. Genetic counseling for sex chromosome anomalies (SCAs) in Israel and Germany: assessing medical risks according to the importance of fertility in two cultures. (United States)

    Hashiloni-Dolev, Yael


    In this article, I report findings from a comparative study of Israeli and German genetic counselors. Specifically, it concerns counselors' attitudes and risk assessments relating to prenatal diagnosis of sex chromosome anomalies (SCAs) such as Klinefelter and Turner syndromes. Data collected through in-depth interviews with counselors in both countries (N = 32) are presented, and the types of claims experts deploy in their personal and professional estimation of the risks involved in SCAs are analyzed. The article concludes by suggesting that the counselors rhetoric concerning SCAs, whose major manifestation is the future infertility of the unborn child as well as their estimations of the related risks, should be situated in a broader cultural context, that of local Israeli and German understandings of the importance of fertility, and not in their professional nondirective ethos. Hence, to understand the practice of genetic counselors in two late-modern societies, one must understand the unique relationship between the individual bodies of pregnant women and the body politics of their nations, a relationship mediated by the counselors, who are the bearers of knowledge and expertise in this field.

  17. Counselling Techniques for Outdoor Leaders. (United States)

    Chase, Michelle; Chase, Robert


    Outdoor leaders need counseling skills to deal with interpersonal conflicts that arise within a group and to facilitate participant growth and change. Person-centered counseling, reality therapy counseling, and behavioral counseling are discussed, as well as how various techniques from each can be used to the benefit of the leader and the group.…

  18. Body Movement Synchrony in Psychotherapeutic Counseling: A Study Using the Video-Based Quantification Method (United States)

    Nagaoka, Chika; Komori, Masashi

    Body movement synchrony (i. e. rhythmic synchronization between the body movements of interacting partners) has been described by subjective impressions of skilled counselors and has been considered to reflect the depth of the client-counselor relationship. This study analyzed temporal changes in body movement synchrony through a video analysis of client-counselor dialogues in counseling sessions. Four 50-minute psychotherapeutic counseling sessions were analyzed, including two negatively evaluated sessions (low evaluation groups) and two positively evaluated sessions (high evaluation groups). In addition, two 50-minute ordinary advice sessions between two high school teachers and the clients in the high rating group were analyzed. All sessions represent role-playing. The intensity of the participants' body movement was measured using a video-based system. Temporal change of body movement synchrony was analyzed using moving correlations of the intensity between the two time series. The results revealed (1) A consistent temporal pattern among the four counseling cases, though the moving correlation coefficients were higher for the high evaluation group than the low evaluation group and (2) Different temporal patterns for the counseling and advice sessions even when the clients were the same. These results were discussed from the perspective of the quality of client-counselor relationship.

  19. Controlling Depersonalized Counseling. (United States)

    Balistrieri, Tom


    Outlines Gestalt therapy techniques to increase active listening and counselor/client involvement in career counseling. Discusses awareness through dialog, role playing or "presentizing," and experiential "presentizing." Presents a sample dialog as illustration. (RC)

  20. Therapy and Counseling (United States)

    ... can give you tools to help fight low self-esteem and depression.Therapy can help treat a variety ... trained in psychotherapy include professionals representing psychiatry, clinical psychology, mental health counseling, clinical social work, marriage and ...

  1. Counseling Black Adolescent Parents (United States)

    Gilbert, Gwendolyn C.


    Black adolescent parents need counsel from social workers who are able to intervene with a discerning knowledge of concepts, such as neocolonialism, survival, and liberation, that are important to them and to the black community. (Author)

  2. Cytogenetic Testing and Genetic Counseling for Complex Chromosomal Rearrangements%染色体复杂重排的细胞遗传学检测及遗传咨询

    Institute of Scientific and Technical Information of China (English)

    孙辉; 谭跃球


    Objective To explore the testing methods and genetic counseling issues based on 4 cases of new kayoytpes of complex chromosomal rearrangements(CCRs).Methods 4 patients with CCRs were analyzed by ordinary G banding,among them 2 patients were mental retardation,and another two had spontaneous abortion.FISH and comparative genomic hybridization(CGH) were further used to study the two patients with mental retardation.The testing methods and genetic counseling issues were reviewed by literatures.Results The karyotypes of the 4 patients were 46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22) and 46,XY,t(2;16;5)(q33;p12;q33),respectively.The abnormal karyotypes of the two mental retardation patients were de novo,and no minute translocation and other structural rearrangement were found by multicolor FISH and CGH.The four karyotypes Were not reported by any international journal.Conclusion Traditional karyotyping analysis is the base for testing complex chromosomal rearrangements.The genetic effects of complex chromosomal rearrangements are involved in fertility difficulties and mental retardation,and are also related with the rearrangement types.%目的 以4例染色体复杂重排新核型的确诊为例,探讨这类染色体异常的检测方法及遗传咨询.方法 应用常规G显带技术分析4例复杂易位患者的染色体核型,其中2例为智力低下患者,另2例来自有自然流产史的夫妇.2例智力低下患者应用FISH和CGH技术进一步分析并检测其父母核型.查询相关数据库检索4例核型的发生率.结果 4例患者的核型分别为46,XYqh+,t(1;12;2;10)(q25;q11;p14;p11),inv(1)(p22q25),46,XY,t(7;21;8)(p13;q22;p21),46,XX,t(3;7;10)(q28;p15;q22)和46,XY,t(2;16;5)(q33;p12;q33).2例智力低下患者经FISH和CGH检测未发现其他染色体的异常,未见染色体微小重复或缺失.4例核型均为国内外文献未曾报道的新核型.结论 染色体复杂重排

  3. Genetics and Personal Insurance: the Perspectives of Canadian Cancer Genetic Counselors. (United States)

    Lane, Michelle; Ngueng Feze, Ida; Joly, Yann


    Genetic discrimination in the context of genetic testing has been identified as a concern for symptomatic and asymptomatic individuals for more than three decades. Genetic counselors are often the health care professionals who discuss risks and benefits of genetic testing with patients, thereby making them most appropriate to address patient concerns about genetics and personal insurance (i.e., life, life as related to mortgage or group insurance, disability, critical illness and travel). A pilot study was conducted to ascertain the current practices of Canadian cancer genetic counselors in regard to their discussions with patients about genetic testing and access to personal insurance. Among the 36 counselors surveyed, 100 % reported discussing the issue of genetic testing and personal insurance with their patients. Several factors influenced the content, depth and length of these discussions including age, cancer status, family members, and patients' current and future insurance needs. Counselors reported discussing with patients the possible impact of genetic test results on access to personal insurance, possible access and use of patient genetic information by insurance companies, and whom patients should contact if they have additional questions. The most commonly reported inquiries from patients included questions about the possible impact of genetic testing on their ability to obtain insurance, and the insurability of family members. While 28 % of counselors reported having been contacted by an insurer requesting access to patient information, only one counselor was aware of or could recall the outcome of such a request. This pilot study revealed that issues concerning genetics and personal insurance are commonly discussed in Canadian cancer genetic counseling sessions. Counselors furthermore expressed a need for additional educational resources on the topic of genetics and personal insurance for themselves and their patients.

  4. Group counseling for medical students with drop-out experiences. (United States)

    Kim, Eun Kyung; Baek, Sunyong; Woo, Jae Seok; Im, Sun Ju; Lee, Sun Hee; Kam, Beesung; Lee, Sang Yeoup; Yun, So Jung


    The purpose of this research was to describe our group counseling methods for medical students with drop-out experiences. Group counseling was offered to 11 medical students with drop-out experiences in their previous second semester. All subjects provided written informed consent before participating and completed a 2-day group counseling program using the Gestalt approach. The self-assertiveness training group counseling program consisted of 6 sessions, each of which lasted 90 minutes. Experience reports by participants after the program and data from semi-structured qualitative interviews were qualitatively analyzed. Program participants reported that they were moderately satisfied with the program regarding its usefulness and helpfulness on self-awareness, understanding, and reminding them of attempts to change behavior. Most students showed heightened levels of sincerity perceptions and positive attitudes in every session. The results demonstrated significant changes in experience in self-esteem, self-recognition, and interpersonal relationships. A group counseling program using the Gestalt approach could help medical students with drop-out experiences to adjust with 1 year their juniors, enhance their self-esteem, contribute to their psychological well-being, and prevent student re-failure through effective stress management and improved interpersonal relationships.

  5. 38 CFR 21.3100 - Counseling. (United States)


    ... 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...

  6. The Macro-and Micro-Language Learning Counseling: An Autoethnographic Account

    Directory of Open Access Journals (Sweden)

    Satomi Shibata


    Full Text Available This article describes an example of the counselor’s role in a relatively small Self-Access Center (SAC for language learning in universities in Japan. The author has been involved with establishing and running two SACs in Japanese universities. The study used autoethnography as its research method to look closely at the counselor’s role. This study eventually helped the author to analyze the counseling she has been providing and to realize that the counselor is required to provide not only macro-counseling but also micro-counseling. Micro-counseling consists of short, informal interactions with learners which connect the learner to elements in SACs, such as teaching assistants, other language learners, and language learning materials. These micro-counseling encounters can help to create a secure space which encourages learners to engage in macro-counseling sessions which support their language learning.

  7. Unmet counselling need amongst women accessing an induced abortion service in KwaZulu-Natal, South Africa. (United States)

    Birdsey, Graeme; Crankshaw, Tamaryn L; Mould, Sean; Ramklass, Serela S


    Provision of objective, evidence-based counselling in the context of induced abortion services is considered global good practise. However, there is limited understanding over the counselling needs of women accessing abortion services, particularly in sub-Saharan Africa. This study aimed to explore the content and quality of pre-abortion counselling amongst women accessing an abortion service in South Africa as well as client experience of the counselling process. Perceptions of nurse counsellors were also sought. This was a mixed methods study conducted at a Choice of Termination of Pregnancy clinic based at a district level hospital in KwaZulu-Natal, South Africa. Sixty women requesting an abortion were interviewed via a semi-structured questionnaire. In-depth interviews were conducted with four nurses who provided pre-abortion counselling at the clinic. Interviews were coded for emergent themes and categories. Clinic nurses had widely variable counselling training and experience, ranging from less than 2 months to 8 years, but all clients reported that they had been treated with respect at their counselling session. The group-based counselling format and biomedical and health promotion content did not accommodate clients' differential counselling needs, which included requests for support from women experiencing intimate partner violence (IPV). There was limited provider awareness of client's additional counselling needs. Abortion counselling services should be tailored to clients' differential counselling needs. Group-based counselling followed by optional one-on-one counselling sessions is one possible strategy to address unmet client need in South Africa. Provision of abortion provider training in IPV is recommended as well as establishment of referral pathways for women experiencing IPV. Paying attention to the differential counselling needs of women seeking an abortion should be a key component to the provision of abortion services. In this way, abortion

  8. Formal description of the OSI session layer: session service

    NARCIS (Netherlands)

    van Sinderen, Marten J.; van Eijk, P.H.J.; Vissers, C.A.; Diaz, M.


    The LOTOS formal description of the OSI session service is presented on basis of specification samples from the full description, giving account of how specification styles and session service architectural elements are reflected in the description. Both information (data types) and process

  9. Clinical features, gene mutation and genetic counseling in Rett syndrome patients%儿童散发Rett综合征临床特征、基因突变与遗传咨询

    Institute of Scientific and Technical Information of China (English)

    白欣立; 王秀霞; 张会丰; 孙艳霞; 李震中


    目的 寻找散发典型Rett综合征患儿甲基化CpG结合蛋白2基因(MECP2基因)突变,探讨基因型和表型之间的关系,并为遗传咨询提供帮助.方法 提取患者及其父母静脉血白细胞基因组DNA,使用MECP2基因外显子特异引物进行PCR扩增和DNA测序检测.结果 2例患者MECP2基因外显子1、2、3未发现突变,外显子4分别存在一种杂合错义突变,核苷酸变化分别为c.C473T和c.C397T,导致相应的氨基酸变化p.T158M和p.R133C;其父母均无相应突变;c.C397T患者的临床表型较c.C473T轻.结论 典型Rett综合征患者多数存在MECP2基因突变,应行基因检测,阳性结果患者应检测其父母相应变化,为遗传咨询提供依据.%Objective To investigate the mutations in methyl-CpG-binding protein 2 gene (MECP2 gene) from typical sporadic Rett syndrome patients,explore the correlations between their genotype and phenotype,assist in genetic counseling.Methods Genomic DNA was extracted from peripheral blood leukocytes from 2 patients and their parents using standard protocols.Polymerase chain reaction and direct sequencing were performed using specific primers from 4 exons in MECP2 gene.Results No mutations were found in exon 1,2,3.Two different heterozygous missense mutations in exon 4 within MECP2 gene were identified from 2 patients.Their nuclear acid changes were:c.C473T and c.C397T,leading to amino acid change accordingly:p.T158M and p.R133C.There were no same mutations from their parents.Phenotype of patient with c.C397T was milder than patient with c.C473T.Conclusions Most of typical Rett syndrome patients had mutations in MECP2 gene.Gene test should be performed.Their biological parents should be detected accordingly if the patient had positive found to support genetic counseling.


    NARCIS (Netherlands)



    After the birth of a child with a congenital anomaly, parents have many questions about cause, prognosis, and recurrence risk. An important means of transmitting such information is referral to a genetic clinic. We were interested in knowing what determines whether or not parents are referred for ge

  11. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt


    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  12. Training Pediatric Residents to Provide Smoking Cessation Counseling to Parents

    Directory of Open Access Journals (Sweden)

    Rebecca L. Collins


    Full Text Available The objective was to assess the effectiveness of a smoking cessation educational program on pediatric residents' counseling. Residents were randomly selected to receive the intervention. Residents who were trained were compared to untrained residents. Self-reported surveys and patient chart reviews were used. Measures included changes in self-reported knowledge, attitudes and behaviors of residents, and differences in chart documentation and caretaker-reported physician counseling behaviors. The intervention was multidimensional including a didactic presentation, a problem-solving session, clinic reminders, and provision of patient education materials. Results showed that residents who were trained were more likely to ask about tobacco use in their patients' households. They were also more likely to advise caretakers to cut down on or to quit smoking, to help set a quit date, and to follow up on the advice given at a subsequent visit. Trained residents were more likely to record a history of passive tobacco exposure in the medical record. These residents also reported improved confidence in their counseling skills and documented that they had done such counseling more often than did untrained residents. Caretakers of pediatric patients who smoke seen by intervention residents were more likely to report that they had received tobacco counseling. Following this intervention, pediatric residents significantly improved their behaviors, attitudes, and confidence in providing smoking cessation counseling to parents of their pediatric patients.

  13. Session-based concurrency, reactively

    NARCIS (Netherlands)

    M. Cano (Mauricio); J. Arias (Jaime); J.A. Pérez Parra (Jorge)


    textabstractThis paper concerns formal models for the analysis of communication-centric software systems that feature declarative and reactive behaviors. We focus on session-based concurrency, the interaction model induced by session types, which uses (variants of) the Π-calculus as specification

  14. Health counseling of adolescents. (United States)

    Joffe, A; Radius, S M


    Health counseling is a fundamental aspect of health care for adolescents and is a natural extension of the concept of anticipatory guidance. It is a dynamic process involving active participation by adolescents. Pediatricians are a valued source of health-relevant information, but must also recognize how their attitudes and beliefs can affect the counseling process. Knowledge of the multitude of changes occurring during adolescence and an understanding of the role of health-risking behaviors in meeting various developmental needs are critical to successful counseling. Particular attention must be focused on ways to help adolescents develop the skills necessary to maintain health-promoting lifestyles and to resist peer pressure to engage in health-risking behaviors.

  15. Multicultural Counseling: From Diversity to Universality. (United States)

    Patterson, C. H.


    Although multicultural counseling has been a source of controversy, it has recently been recognized that counseling is really generic in nature, and therefore all counseling is multicultural. Thus, multiculturalism has joined the movement toward a universal system of counseling. (JPS)

  16. Application of Adaptive Counseling and Therapy to Career Counseling. (United States)

    Anderson, Mary Z.; Tracey, Terence J.


    Adaptive Counseling and Therapy theory predicts that counseling efficacy depends on a match between counselor style and client readiness. Data from 137 females and 54 males showed a negative relationship between client readiness and preference for directive counseling and a curvilinear (inverted U) relationship between readiness and preference for…

  17. The Ghosts of Counseling Psychology: Is Counseling Research Really Dead? (United States)

    Murdock, Nancy L.


    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…

  18. The Ghosts of Counseling Psychology: Is Counseling Research Really Dead? (United States)

    Murdock, Nancy L.


    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…

  19. [Couples counseling with Latinos]. (United States)

    Zumaya, Mario


    Intimate ties and emotional relationship gain the function to confirm, to stabilize and, afterwards, to structure the coherency's model of the structured self-organization up to that moment. When the couple perceives the bond of the relationship such as a sole and exclusive for a person, they take a leading role to be able to deduce a sense of individuality and uniqueness in the way to feel himself in the world. Based on these considerations, in this paper I propose a brief description of a counselling method, which characterises the work I am carrying out since several years in the counselling and therapy with couples.

  20. Beyond Spaces of Counselling

    DEFF Research Database (Denmark)

    Bank, Mads; Nissen, Morten


    The article articulates experiments with spatial constructions in two Danish social work agencies, basing on a) a sketchy genealogical reconstruction of conceptualisations and uses of space in social work and counselling; b) a search for theoretical resources to articulate new spaces, and c) data...... from a long-standing collaboration with the social workers. Beside the classical disciplinary and pastoral spaces, we find spaces of attunement, spaces of production, and public spaces as forms of spatialisations which might be taken as prototypical in attempts to develop social work and counselling....

  1. Some Approaches for Counseling Students (United States)

    Craig, David G.


    Suggests teachers use following steps in counseling students: preparation, introduction, problem definition, solution identification, information gathering, decision making, and follow-up. Discusses role of teacher in directive and non-directive counseling. (DM)

  2. Trends in Counseling and Psychotherapy. (United States)

    Smith, Darrell


    Surveyed the views of both clinical and counseling psychologists regarding current trends in counseling and psychotherapy. Found psychoanalysis to be declining in popularity, while cognitive-behavioral options represented one of the strongest theoretical emphases today. (Author/GC)

  3. Managed Care, Ethics, and Counseling. (United States)

    Daniels, Jeffrey A.


    Addresses issues of managed care and ethics and how they relate to counseling. Specifically reviews a recent article published in "The Counseling Psychologist" (2000). Explores implications for counselors and counselor educators. (Author/GCP)

  4. Kierkegaard's Philosophy: Implications for Counseling. (United States)

    Dopson, Lorraine; Gade, Eldon


    Discusses how the philosophy of Soren Kierkegaard can provide useful guidelines for the study of the counseling process. Compares Kierkegaard's philosophy with selected contributions of Freud, Skinner, Rogers, and May and with four common themes of counseling and psychotherapy. (Author)

  5. Trends in Counseling and Psychotherapy. (United States)

    Smith, Darrell


    Surveyed the views of both clinical and counseling psychologists regarding current trends in counseling and psychotherapy. Found psychoanalysis to be declining in popularity, while cognitive-behavioral options represented one of the strongest theoretical emphases today. (Author/GC)

  6. Efficacy of Standardized Nursing Fertility Counseling on Sperm Banking Rates in Cancer Patients. (United States)

    Rotker, Katherine; Vigneswaran, Hari; Omil-Lima, Danly; Sigman, Mark; Hwang, Kathleen


    To examine the effect of brief nurse counseling on sperm banking rates among patients prior to initiating chemotherapy. A retrospective chart review was performed for men aged 18-50 with newly diagnosed cancer, from 1998 to 2003, prior to initiation of chemotherapy. A standardized nursing education session including brief fertility counseling was implemented at one institution in 2008 (Institution A). Rates of sperm banking among patients who received counseling were compared to those without counseling at institution A and to those at institution B where a counseling program was never initiated. A total of 766 male patients, 402 treated at institution A and 364 at institution B, were included. At institution A, sperm banking rates prior to 2008 were 6.4% and 8.3% after 2008 for those who did not receive counseling. The rate of sperm banking for those patients who did receive counseling was significantly higher at 17.6% (P = .002). The odds of banking increased 2.9 times for those who received counseling compared to those who did not (P = .003). At institution B, where counseling was never initiated, rates of banking remained low before and after 2008. Additional analysis revealed that younger patients and those patients who did not have children were more likely to perform sperm banking. The rates of sperm banking among cancer patients increased with the receipt of a brief, formalized nurse counseling session prior to initiation of chemotherapy. These findings may validate the use of a formalized fertility counseling prior to initiation of chemotherapy. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. 38 CFR 21.5100 - Counseling. (United States)


    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.5100.... Chapter 32 Counseling § 21.5100 Counseling. (a) Purpose. The purpose of counseling is: (1) To assist in... of counseling. Counseling assistance in available for— (1) Identifying and removing reasons...

  8. Do Counseling and Marketing Mix? (United States)

    Fong-Beyette, Margaret L.


    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;…

  9. Contemporary Counseling: Services, Applications, Issues. (United States)

    Humes, Charles W.

    This book was written to serve as a basic text in courses that overview the use of counseling services and to serve as a useful reference for counseling practitioners. It is designed to stress counseling services in different settings (social agencies, mental health centers, schools, business/industry, correctional institutions, and private…

  10. Do Counseling and Marketing Mix? (United States)

    Fong-Beyette, Margaret L.


    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;…

  11. A Maslovian Counseling Method. (United States)

    Kirkpatrick, J. Stephen


    With Maslow's hierarchy as a basis, the model provides structure for setting goals in counseling cases and overall programs. Different kinds of client concerns are identified, and suggestions are made for using these 14 categories. The article includes specific suggestions for using the model in diagnosis, evaluation, counselor education, and…

  12. Vocational Counseling Revisited (United States)

    O'Brien, Charles R.


    The author stresses the importance for counselors to articulate a viable and comprehensive approach to vocational counseling to both clients and the larger society. A re-thinking and re-stating of career education concepts can be a first step in applying vocational theory more constructively. (EA)

  13. Client Expectations for Counseling (United States)

    Tinsley, Howard E. A.; Harris, Donna J.


    Undergraduate students (N=287) completed an 82-item questionnaire about their expectations of counseling. The respondents' strongest expectations were of seeing an experienced, genuine, expert, and accepting counselor they could trust. Expectancies that the counselor would be understanding and directive were lower. Significant sex differences were…

  14. Counseling and Transcendental Philosophy (United States)

    Donceel, Joseph


    An acquaintance with the different philosophies of human nature is an invaluable asset for counseling. The author presents a modern Christian concept of man with emphasis on contributions of Aristotle and St. Thomas Aquinas and elements from modern philosophy. Its two main concerns are man's spirit and man's knowledge and will. (Author/CG)

  15. Counseling Third Culture Kids. (United States)

    Barringer, Carolyn Fox

    Third Culture Kids (TCKs) represent a group of youth who have lived overseas with their families for business, service, or missionary work. The implications of living in multiple cultures, especially during the developmental and formative years of youth, warrant investigation. This study informs the US counseling community about the…

  16. First Cycle Counselling. (United States)

    Darska, Anna


    Investigations are described that were carried out by the Centre d'Information de Documentation et d'Orientation of the Rene Descartes University to find an answer to the counseling problems arising from student admission, through coursework, and upon leaving the university to start a career. (Author/MLW)

  17. Counseling in Italy (United States)

    Remley, Theodore P.; Bacchini, Eugenio; Krieg, Paul


    The counseling profession in Italy is in an early stage of development. No university preparation programs exist, and counselors are not employed in schools. Counselors maintain private practices, work in agencies, and are employed by the government. Counselors receive their preparation in Italy from professional associations in programs that…

  18. Counseling Skills for Teachers (United States)

    Kottler, Jeffrey A.; Kottler, Ellen


    By necessity, today's teachers do much more than deliver instruction. In the classroom, on the playground, or even in the parking lot, teachers are often called upon to respond quickly and appropriately to students' social and emotional needs, drawing from instinct more than anything else. In this second edition of "Counseling Skills for…

  19. Existentialism in Counseling (United States)

    Tyler, Leona E.


    The counselor, in working with students, can make each choice a means through which the person clarifies his purposes and designs his own future. Every commitment of time is a serious undertaking. This, the author sees, is the fundamental message of existentialism for counseling. (Author)

  20. Evaluation of a nurse-led haemophilia counselling service. (United States)

    O'Shea, Eadaoln; Coughlan, Michael; Corrigan, Helen; McKee, Gabrielle

    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 nurse-led carrier testing clinic and counselling service.

  1. Analysis of chromosomal karyotypes in 1950 cases of genetic counseling in Zaozhuang%枣庄地区1950例遗传咨询者细胞染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    孙尚军; 甘信辉


    Zaozhuang 1950 cases genetic counseling's peripheral blood cell culture, conventional preparation of chromosome and G banding karyotype were analysed. It was found 175 cases abnormalities, abnormalities frequency for 8. 97% (175/1950) , abnormal karyotype involves trisomy, haplotype, Robertsonian translocation, and unbalanced rearrangement. 1125 cases of adverse pregnancy history subjects, detected abnormal karyotype 89 cases, accounting for abnormal karyotype 51% (89/175) , and varying degrees of mental retardation 356 cases, detected abnormal karyotype 54 cases, accounting for abnormal karyotype 31% (54/175), infertility 469 cases, abnormal karyotype 32 cases, accounting for 18% of the abnormal karyotype (32/175). Karyotype analysis for adverse pregnancy history, mental retardation, infertility, disease diagnosis is important, and interrelate to D, G group of the short arm of variation, and the length of the Y chromosome variation, these should cause clinical attention.%本文对枣庄地区1950例遗传咨询者进行外周血细胞培养,常规染色体制备,G显带核型分析,共检出异常核型175例,异常率为8.97% (175/1950),异常核型涉及到三体型、单体型、罗伯逊易位、不平衡重排等.受检者中不良孕产史1125例,检出异常核型89例,占异常核型的51% (89/175);不同程度的智力低下356例,异常核型54例,占异常核型的31% (54/175);不孕不育469例,异常核型32例,占异常核型的18% (32/175).结果表明,染色体核型分析对不良孕产史、智力低下、不孕不育等疾病的诊断具有重要意义,并且与D、G组短臂变异和Y染色体长度变异也有一定的相关性,应引起临床上高度重视.

  2. Digital Interactive Narrative Tools for Facilitating Communication with Children During Counseling

    DEFF Research Database (Denmark)

    Baceviciute, Sarune; Albæk, Katharina R.R.; Arsovski, Aleksandar


    In this article we explore the means by which state-of-the-art knowledge on children counseling techniques can be combined with digital interactive narrative tools to facilitate communication with children during counseling sessions. The field of “narrative play therapy” could profit from...... an adult professional counselor (or therapists) needs to establish a trustful and efficient communication with children. Furthermore, the tool was specifically customized to pediatric audiology counseling. Our evaluation shows that the tool maintains the centrality of the child‟s perspective thanks...

  3. Effects of Structured Group Counseling on Anger Management Skills of Nursing Students. (United States)

    Üzar-Özçetin, Yeter Sinem; Hiçdurmaz, Duygu


    Anger management is an important skill for nurses to prevent conflicts in the health care environment. Efforts, beginning with nursing education, are required to improve this skill and evaluate the effects. This study aimed to evaluate the effects of a structured counseling program on improving the anger management skills of nursing students. The study had an experimental design with pre- and posttests. Twenty-six undergraduate nursing students who were randomly assigned to the groups participated. The authors conducted eight counseling sessions with the experiment group and no intervention with the control group. Data were collected using the State-Trait Anger Expression Inventory. The counseling group had higher anger control and repression scores and lower trait anger scores after the counseling, compared with the control group. This counseling improved the students' anger management skills. Therefore, such programs should be integrated into the services provided for nursing students. [J Nurs Educ. 2017;56(3):174-181.]. Copyright 2017, SLACK Incorporated.

  4. Exploratory study of the feasibility and utility of the colored eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer. (United States)

    Peters, June A; Kenen, Regina; Giusti, Ruthann; Loud, Jennifer; Weissman, Nancy; Greene, Mark H


    We report here the results of an exploratory feasibility study of the colored eco-genetic relationship map (CEGRM), a novel, recently-developed psychosocial assessment tool, which incorporates features of the genetic pedigree, family systems genogram, and ecomap. The CEGRM presents a simple, concise, visual representation of the social interaction domains of information, services, and emotional support through the application of color-coded symbols to the genetic pedigree. The interactive process of completing the CEGRM was designed to facilitate contemporary genetic counseling goals of: (a) understanding the client in the context of her/his social milieu; (b) bolstering client self-awareness and insight; (c) fostering active client participation and mutuality in the counseling interaction; (d) eliciting illuminating social narratives; and (e) addressing outstanding emotional issues. Twenty women participating in a breast imaging study of women from families with BRCA1/2 mutations completed and evaluated various aspects of the CEGRM. We found that efficient construction of the CEGRM was feasible, and that compliance was excellent. Participants developed insights into their social milieu through observing the visual pattern of relationships illustrated by the CEGRM. The process of co-constructing the CEGRM fostered the participant's active involvement in the session, marked by mutuality and increased empathy. In this clinical research context, the participants felt free to share poignant stories about their friends and families. Further studies are planned to refine the CEGRM and to examine its utility in cancer genetics research.

  5. Analysis on Karyotype of Amniotic Fluid Cells from 3 800 Fetus and Related Genetic Counseling%3800例羊水细胞染色体核型分析及相关遗传咨询

    Institute of Scientific and Technical Information of China (English)

    孙立娟; 李岩; 张秀玲; 史云芳; 李晓洲; 张颖


    目的:探讨染色体异常核型与产前诊断指征的关系及羊膜腔穿刺术的安全性,为产前遗传咨询提供客观的实验依据.方法:3 800例具备产前诊断指征的妊娠妇女,在知情选择的情况下行羊膜腔穿刺术及染色体核型检测.分析相关数据,追踪羊膜腔穿刺术的结局.结果:羊水细胞一次培养成功率为99.26%(3772/3 800),两次培养成功率为99.97%(3 795/3 796).在3 795例羊水细胞培养成功的染色体核型中,检出异常核型120例,异常率为3.16%,其中染色体数目异常率1.61%(61/3 795),结构异常率O.58%(22/3 795),多态性变异异常率0.97%(37/3 795).产前诊断指征中,按羊膜腔穿刺例数.位于前3位的分别是唐氏综合征筛查高危人群组(以下简称唐筛高危组,3 54l 例)、不良妊娠分娩史组(95例)和单纯高龄组(≥35岁,83例).检出染色体异常核型例数前3位的分别是唐筛高危组(103例)、夫妻单方染色体异常组(8例)和单纯高龄组(4例).染色体核型异常率前3位的分别是夫妻单方染色体异常组(38.10%,8/21,仅1例有临床意义)、超声提示胎儿异常组(9.38%.3/32)和单纯高龄组(4.82%.4/83).唐筛高危组中,高龄和低龄妊娠妇女染色体核型异常率差异有统计学意义(x2=4.342,P0.05).胎儿丢失率0.237%(9/3 800).胎死宫内率0.053%(2/3 800).结论:①唐筛高危、高龄、超声提示胎儿异常及夫妻单方染色体异常者均有必要进行产前诊断.②羊膜腔穿刺术相对安全.③根据相关实验数据对高危妊娠妇女进行个体化遗传咨询是必要的.%Objective: In order to constitute a basis for genetic counseling, we studied the relationship between fetal chromosomal aberrations and prenatal diagnosis indications, and analyzed the security of amniocentesis. Methods:Fetal chromosomal karyotypes were examined in 3 800 pregnant women with amniotic cell culture in accordance with the indications for prenatal diagnosis. We studied the

  6. Goal setting and lifestyle changes in a nurse-led counselling programme for leg ulcer patients: an explorative analysis of nursing records.

    NARCIS (Netherlands)

    Glind, I.M. van de; Heinen, M.M.; Evers, A.W.; Achterberg, T. van


    AIMS AND OBJECTIVES: To describe goals set in individual nurse-led lifestyle counselling sessions in leg ulcer patients, and to explore patient and goal characteristics in relation to health behaviour change. BACKGROUND: Goal setting is increasingly used in nurse-led counselling programmes, but the

  7. Midwives’ perceptions of communication during videotaped counseling for prenatal anomaly tests: How do they relate to clients’ perceptions and independent observations?

    NARCIS (Netherlands)

    Martin, L.; Gitsels-van der Wal, J.T.; Pereboom, M.T.R.; Spelten, E.R.; Hutton, E.K.; Dulmen, S. van


    Objective: This study aimed to provide insight into Dutch midwives’ self-evaluation of prenatal counseling for anomaly screening in real life practice and, the degree of congruence of midwives’ self-assessments with clients’ perceptions and with observed performance. Methods: Counseling sessions wer

  8. Midwives' perceptions of communication during videotaped counseling for prenatal anomaly tests: how do they relate to clients' perceptions and independent observations?

    NARCIS (Netherlands)

    Martin, L.; Gistels-van der Wal, J.T.; Pereboom, M.T.; Spelten, E.R.; Hutton, E.K.; Dulmen, A.M. van


    OBJECTIVE: This study aimed to provide insight into Dutch midwives' self-evaluation of prenatal counseling for anomaly screening in real life practice and, the degree of congruence of midwives' self-assessments with clients' perceptions and with observed performance. METHODS: Counseling sessions wer

  9. Sessions and Separability in Security Protocols

    DEFF Research Database (Denmark)

    Carbone, Marco; Guttman, Joshua


    Despite much work on sessions and session types in non- adversarial contexts, session-like behavior given an active adversary has not received an adequate definition and proof methods. We provide a syntactic property that guarantees that a protocol has session-respecting executions. Any uncomprom......Despite much work on sessions and session types in non- adversarial contexts, session-like behavior given an active adversary has not received an adequate definition and proof methods. We provide a syntactic property that guarantees that a protocol has session-respecting executions. Any......- work, and gives a general pattern for reasoning about independence....

  10. Poster Session C (United States)


    occurring within several human cell lines. This variation in protein products contributes to the biological differences among these (mostly)cancer cell lines. C.11 Expanding the Role of TAK1 in Immune and Inflammatory Response Through Chemical Genetics Rebecca Levin,1 Nicholas Hertz2, John Gorda1, Alma Burlingame1, Kevan Shokat1 1University of California, San Francisco, CA, USA; 2Rockefeller University, New York, NY, USA Transforming growth factor-β (TGF- β) activated kinase 1 (TAK1) is a MAP kinase that plays an integral role in multiple cytokine signaling pathways. Signaling responses to IL-1, TNFα, TGFβ, LPS and other cytokines have diverse outcomes for the cell. Although these signal reception cascades have many unique components, all signal to some extent through TAK1, making TAK1 a key integrator of extracellular signaling events. Activation of TAK1 leads to upregulation of NF-κB, p38 and JNK pathways.1 While certain downstream outputs of TAK1 signaling have been identified, little is known about the modulation and direction of TAK1 activity upon activation by different ligands. Thus, we seek to identify novel downstream targets of TAK1 and to study how these substrates are utilized upon ligand stimulation. Correspondingly, we have identified novel TAK1 substrates and specific phosphorylation sites in a variety cell lines. Identification of substrates utilizes an ATP-analog specific mutant of TAK1 to selectively chemically modify substrates coupled with mass spectrometry to identify sites of modification. We plan to investigate phosphorylation of these substrates upon ligand stimulation and the impact of that phosphorylation on NF-kΒ transcription, especially those with known NF-κΒ regulatory roles. In addition, we hope to further investigate differences in activation mechanism and signaling outputs of TAK1 using innovative proteomics methods. By these means, we aim to create a detailed map of TAK1 signaling and its importance in response to cytokines. C.12

  11. The Role of Social Welfare Counselling in the Eradication of Sickle ...

    African Journals Online (AJOL)


    requirement for oxygen such as illness, physical stress or being at high altitudes. In more .... Use of acupuncture, between feedback and relaxation to reduce the .... histories, genetic counselling, awareness and active participation prevention ...

  12. Motivational Counseling to Reduce Sitting Time

    DEFF Research Database (Denmark)

    Aadahl, Mette; Linneberg, Allan; Møller, Trine C


    BACKGROUND: Sedentary behavior is regarded as a distinct risk factor for cardiometabolic morbidity and mortality, but knowledge of the efficacy of interventions targeting reductions in sedentary behavior is limited. PURPOSE: To investigate the effect of an individualized face-to-face motivational......-based Health2010 Study. INTERVENTION: Participants were randomized to a control (usual lifestyle) or intervention group with four individual theory-based counseling sessions. MAIN OUTCOME MEASURES: Objectively measured overall sitting time (ActivPAL 3TM, 7 days); secondary measures were breaks in sitting time.......54, -0.29, p=0.01) were observed in favor of the intervention group. CONCLUSIONS: Although the observed decrease in sitting time was not significant, a community-based, individually tailored, theory-based intervention program aimed at reducing sitting time may be effective for increasing standing...

  13. International experience of informed consent and genetic counseling on non-invasive prenatal testing applied in Down syndrome prenatal screening%非侵入性产前检测技术知情同意与遗传咨询的国际经验

    Institute of Scientific and Technical Information of China (English)

    明坚; 许艳; 周萍; 黄葭燕; 陈英耀


    This paper summarized the international experience on the implementation of informed consent and genetic counseling when non-invasive prenatal testing(NIPT) applied in Down syndrome prenatal screening. Then its implications for China were discussed and some policy recommendations were put forward,including enhancing the training to the counselors and doctors,clearly defining the content of genetic counseling,and further standardizing the informed consent implementation.%围绕非侵入性产前检测技术(NIPT)应用于唐氏产前筛查的知情同意与遗传咨询实施,总结分析了国际相关经验与研究,并结合我国国情提出了相关政策建议。建议加强相关人员培训,明确知情告知内容,进一步规范知情同意与遗传咨询的操作实施。

  14. 38 CFR 21.3102 - Required counseling. (United States)


    ... 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...

  15. 38 CFR 21.7100 - Counseling. (United States)


    ... 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)...

  16. Knowledge, attitude and practice of premarital counseling for sickle cell disease among youth in Yaba, Nigeria. (United States)

    Oludarei, Gabriel O; Ogili, Matthew C


    Nigeria accounts for 50% of sickle cell disease (SCD) births worldwide and about 2.3% of her population suffers from SCD with 25% of Nigerians being healthy carriers. This study determined the knowledge, attitude and practice of youths in Yaba, Nigeria towards pre-marital genetic counseling. Data was collected using a questionnaire containing both open ended and closed ended questions. The questionnaires (n= 280) were analyzed by frequency counts, percentages and chi-square. The study shows that 80% of youths had knowledge, 86% had positive attitude and 65% had practiced things related to SCD and premarital counseling. There was a significant association between respondents' educational qualification and knowledge, attitude and practices related to SCD and SCD premarital counseling, and between age and attitude and practices related to SCD premarital counseling. In conclusion, public education on the role of premarital genetic counseling should continue and avenues to allow individuals carry out genotype test should still be encouraged.

  17. Adesão ao tratamento após aconselhamento genético na Síndrome de Down Adhesión a la estimulación después del asesoramiento genético en Síndrome de Down Adherence to treatment post genetic counseling in Down Syndrome

    Directory of Open Access Journals (Sweden)

    Marcos Ricardo Datti Micheletto


    tratamiento de sus hijos.Early stimulation provides significant benefits for Down syndrome individuals, their families and society. This study evaluated the effect of genetic counseling on the adherence behavior of parents to stimulation therapy, the factors that influence access to genetic counseling and to treatment and the satisfaction supplied by counseling. The parents of 12 individuals participated in this study using routine semi-structured interviews at three stages: before counseling, after counseling and follow-up. In spite of the difficulties to access genetic counseling and treatment, most parents were satisfied with the service. This process significantly influenced the adherence to treatment as, probably, the guidance was responsible for changes in behavior. Well-defined rules, useful in Down syndrome, promoted behavioral changes. Rules function as a discriminative stimulus for parents to adherence to the treatment of their children.

  18. 45 CFR 2555.425 - Counseling and use of appraisal and counseling materials. (United States)


    ... 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...

  19. 34 CFR 106.36 - Counseling and use of appraisal and counseling materials. (United States)


    ... 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...

  20. 32 CFR 196.425 - Counseling and use of appraisal and counseling materials. (United States)


    ... 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...

  1. 45 CFR 618.425 - Counseling and use of appraisal and counseling materials. (United States)


    ... 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...

  2. Secure Sessions for Web Services

    NARCIS (Netherlands)

    Bhargavan, K.; Corin, R.J.; Fournet, C.; Gordon, A.D.


    WS-Security provides basic means to secure SOAP traffic, one envelope at a time. For typical web services, however, using WS-Security independently for each message is rather inefficient; besides, it is often important to secure the integrity of a whole session, as well as each message. To this end,

  3. Shortcomings of adherence counselling provided to caregivers of children receiving antiretroviral therapy in rural South Africa. (United States)

    Coetzee, Bronwyne; Kagee, Ashraf; Bland, Ruth


    In order to achieve optimal benefits of antiretroviral therapy (ART), caregivers of children receiving ART are required to attend routine clinic visits monthly and administer medication to the child as prescribed. Yet, the level of adherence to these behaviours varies considerably in many settings. As a way to achieve optimal adherence in rural KwaZulu-Natal, caregivers are required to attend routine counselling sessions at HIV treatment clinics that are centred on imparting information, motivation, and behavioural skills related to medication administration. According to the information-motivation-behavioural skills model, information related to adherence, motivation, and behavioural skills are necessary and fundamental determinants of adherence to ART. The purpose of the study was to observe and document the content of adherence counselling sessions that caregivers attending rural clinics in KwaZulu Natal receive. We observed 25 adherence counselling sessions, which lasted on average 8.1 minutes. Counselling typically consisted of counsellors recording patient attendance, reporting CD4 count and viral load results to caregivers, emphasising dose times, and asking caregivers to name their medications and dosage amounts. Patients were seldom asked to demonstrate how they measure the medication. They were also not probed for problems regarding treatment, even when an unsuppressed VL was reported to a caregiver. This paper calls attention to the sub-optimal level of counselling provided to patients on ART and the urgent need to standardise and improve the training, support, and debriefing provided to counsellors.

  4. Genetics Home Reference: Friedreich ataxia (United States)

    ... Hypertrophic Cardiomyopathy National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information ...

  5. Osteopathic medical student administered smoking cessation counseling is an effective tool

    Directory of Open Access Journals (Sweden)

    Barbara Capozzi


    Full Text Available Background: Physician counseling on the risks of tobacco smoking and the benefits of cessation has been shown to be an effective method of increasing the rate of smoking cessation. Using the "Help Your Patients Quit Smoking: A Coaching Guide" also referred to as the "7A′s of Smoking Cessation" guideline from the New York City Department of Health and Mental Hygiene is thought to be effective to convey the importance of smoking cessation. Aim: To study the efficacy of the "7A′s of Smoking Cessation" guideline counseling conducted by osteopathic medical students. Materials and Methods: Osteopathic medical students were trained to counsel smokers for 3-10 min based on New York City Department of Health′s "7A′s of Smoking Cessation" guidelines by a licensed physician. Students then counseled health fair participants who were cigarette smokers for 3-10 min. Postcounseling, participants were administered an 4 question survey to evaluate the effect counseling had on their desire to quit smoking. Survey data were collected and analyzed. Institutional Review Board approval was obtained for this study. Results: A total of 13 anonymous health fair participants who were also smokers were administered both counseling sessions and surveys. 11/13 (84.6% participants stated that the session motivated them to quit smoking. 9/13 (69.2% participants responded that they were now motivated to discuss smoking cessation with their doctor after being counseled. Of these participants 12/13 (92.3% had previously attempted to quit smoking without success. Conclusion: Participants reported an increased willingness to stop smoking after being counseled by osteopathic medical students. Participants also reported an increased motivation to discuss smoking cessation with their physician. These findings indicate that smoking cessation counseling administered by osteopathic medical students effectively in encouraging smokers to consider reduction or cessation of tobacco




  7. Workshop Presentations of the World Seminar on Employment Counseling (Ottawa, Ontario, September 1980). (United States)

    Ross, Gladys G., Ed.

    This monograph presents 26 papers addressed to workshop sessions representing thought and innovation in employment counseling and vocational guidance. Two papers are written in German, one in French, and 23 in English. Abstracts preceding each paper appear in the two languages other than that used for the paper itself. Topics covered include…

  8. Examining Multicultural Counseling Competencies of Rehabilitation Counseling Graduate Students (United States)

    Donnell, Chandra M.


    There has been little examination of multicultural counseling competencies of rehabilitation counselor trainees. The current study examined competency development (knowledge, skills and awareness) of 68 rehabilitation counseling master's degree students across six universities. Results indicate that students did not demonstrate competence in…

  9. Counseling without Truth: Toward a Neopragmatic Foundation for Counseling Practice (United States)

    Hansen, James T.


    The author presents an overview of contemporary developments in philosophy regarding the status of truth and discusses the implications of these ideas for the practice of counseling. Counseling without truth is presented as a desirable option when a neopragmatic frame of reference is adopted.

  10. Addiction Counseling Accreditation: CACREP's Role in Solidifying the Counseling Profession (United States)

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


    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…

  11. 儿童耳聋家庭GJB2、SLC26A4和mtDNA基因型检测及产前咨询%Genetic testing of GJB2, SLC26A4 and mtDNA ( C494T, A1555 G) mutation and prenatal counseling with deafness families of children

    Institute of Scientific and Technical Information of China (English)

    周艾; 方如平; 戴朴; 李琦


    Aim: To identify the genetic causes for hearing loss in children and present a prenatal counseling. Methods: Thirteen families with deafness children were performed audiologically genetic testing. Blood samples were obtained and DNA was extracted. The coding region of GJB2 gene,SLC26A4 and mitochondrial DNA target fragments were amplified by PCR. Mutations in GJB2 gene, SLC26A4,mtDNA 1494C→T and mtDNA 1555A→G were identified by sequencing a-nalysis. Results: Of 13 children families, 4 had GJB2 mutations,2 had SLC26A4 mutations and one had mtDNA1555A G mutation. Genetic counseling was for these families. Conclusion: Genetic testing may provide prenatal counseling for sen-sorineural deafness children families.%目的:进行儿童听力障碍的遗传学检测并进行产前咨询.方法:对13例耳聋患儿家庭进行临床听力测试,收集患儿及父母外周静脉血样本,提取DNA,PCR扩增GJB2基因、SLC26A4基因和线粒体DNA目的片段,对扩增片段直接测序,经过与标准序列的比对,进行突变分析.结果:发现与耳聋基因突变有关者7例,其中GJB2致病纯合突变或复合杂合突变3例,杂合突变1例;SLC26A4纯合突变和复合突变各1例;线粒体DNA 1555A→G突变1例.对所有家庭进行产前咨询.结论:耳聋遗传学检测可以为儿童感音神经性耳聋家庭提供生育第二胎的产前咨询.

  12. From constraints to opportunities? Provision of psychosocial support in portuguese oncogenetic counseling services. (United States)

    Mendes, Alvaro; Sousa, Liliana; Paneque, Milena


    Although available guidelines for familial cancer risk counseling clearly state the need to provide adequate psychosocial assessments and support, this feature of care is only available in part for individuals and families in oncogenetic counseling protocols in Portugal. The purpose of this study was to examine the psychosocial aspects of oncogenetic counseling provided by a sample of Portuguese genetics professionals. We sought to ascertain perceived need for the provision of psychosocial services and ways to enhance the psychosocial focus in service delivery. A qualitative study was designed; semi-structured focus groups and individual interviews were performed with 30 professionals from Portuguese healthcare institutions where oncogenetic counseling is offered. Findings suggest: current practice is aligned with the teaching model, with a mainly information-based focus; use of psychosocial counseling techniques and psychosocial support is limited throughout the genetic counseling timeline; there is a limited workforce of adequately trained psychosocial professionals, who are disadvantaged by structural and organizational constraints. These factors are considered to be serious barriers for psychosocial delivery. Development of multidisciplinary teams working in oncogenetics, and need for further counselling skills and training for genetics healthcare professionals were identified as priorities. Implications for practice and policy are discussed. Portuguese genetic counselors who have recently completed their training, may therefore contribute to enhanced psychosocial services delivery.

  13. Abortion Counseling and the School Counselor (United States)

    Duncan, Jack A.; Moffett, Catherine F.


    Abortion counseling is now legally within the purview of the school counselor. It is therefore essential that counselors determine their role in abortion counseling, the kind of training necessary, and whether professional organizations should develop counseling guidelines. (RP)

  14. Motivational Interviewing and Rehabilitation Counseling Practice (United States)

    Wagner, C. C.; McMahon, B. T.


    This article explores commonalities between rehabilitation counseling and the counseling approach known as motivational interviewing. Motivational interviewing is an empirically supported, clientcentered, directive counseling approach designed to promote client motivation and reduce motivational conflicts and barriers to change. The underpinnings…

  15. The Individual Differences Tradition in Counseling Psychology. (United States)

    Dawis, Rene V.


    Traces historical development from individual differences psychology through psychological testing, vocational counseling, and student personnel work, to counseling psychology. Describes individual differences tradition in counseling psychology research and practice. Discusses how individual differences psychology has influenced counseling…

  16. Counseling in Turkey: An Evolving Field (United States)

    Stockton, Rex; Guneri, Oya Yerin


    This article provides a brief history of counseling and addresses the current issues and future trends of counseling in Turkey. Special emphasis is placed on the factors that impede the development of school counseling as a discipline.

  17. Therapist Multicultural Competence, Asian American Participants' Cultural Values, and Counseling Process. (United States)

    Wang, Shihwe; Kim, Bryan S K


    Asian Americans drop out of mental health treatment at a high rate. This problem could be addressed by enhancing therapists' multicultural competence and by examining clients' cultural attitudes that may affect the counseling process. In the present study, we used a video analogue design with a sample of 113 Asian American college students to examine these possibilities. The result from a t test showed that the session containing therapist multicultural competencies received higher ratings than the session without therapist multicultural competence. In addition, correlational analyses showed that participant values acculturation was positively associated with participant ratings of counseling process, while the value of emotional self-control was negatively correlated. The results of a hierarchical multiple regression analysis did not support any interaction effects among the independent variables on counseling process. All of these findings could contribute to the field of multicultural competence research and have implications for therapist practices and training.

  18. Framing recommendations to promote prevention behaviors among people at high risk: A simulation study of responses to melanoma genetic test reporting. (United States)

    Taber, Jennifer M; Aspinwall, Lisa G


    A CDKN2A/p16 mutation confers 76 % lifetime risk of developing melanoma to US residents, and high-risk individuals are counseled to use sunscreen. Generally, for patients at population risk, gain framing more effectively promotes prevention behaviors; however, it is unknown whether loss frames might more effectively promote behavioral intentions and perceived control over disease risk among high-risk patients. Undergraduates (N = 146) underwent a simulated genetic counseling and test reporting session for hereditary melanoma. Participants watched a video of a genetic counselor providing information in which genetic risk of melanoma (Low: 15 %; High: 76 %) and framed recommendations to use sunscreen (Loss: Risk may increase by 15 % if don't use sunscreen; Gain: Risk may decrease by 15 % if use sunscreen) were manipulated. Controlling for baseline sunscreen use, high-risk participants given loss frames reported greater beliefs that sunscreen would reduce risk than high-risk participants given gain frames. Further, high-risk participants with fair skin tended to report greater intentions to use sunscreen when given loss frames versus gain frames. Perceived control over risk mediated the effect of message frame and disease risk on intentions to use sunscreen. When counseling patients with elevated cancer risk, genetic counselors may consider framing prevention behavioral recommendations in terms of potential losses.

  19. Non-attendance at counselling therapy in cocaine-using methadone-maintained patients: lessons learnt from an abandoned randomised controlled trial.

    LENUS (Irish Health Repository)

    Darker, C


    Recently, the authors commenced a randomised controlled trial to study the effectiveness of cognitive behavioural coping skills (CBCS) to reduce cocaine usage in methadone-maintained patients\\' in a clinical setting by assessing attendance at treatment sessions and outcomes in terms of cocaine use. However, recruitment into the study stopped when it became apparent that attendance at counselling sessions was poor.

  20. Making the Road by Walking: Using Role-Play and Instructor Feedback to Teach Basic Counseling Skills to Singaporean Trainee Educational Psychologists (United States)

    Kit, Phey Ling; Garces-Bacsal, Rhoda Myra; Burgetova, Kristina


    This study focused on the experiential learning experiences of eight trainee educational psychologists (school psychologists in the United States) from Singapore who participated in three role-play sessions during a two-day Basic Counseling Skills Training Program. Data collected from transcriptions of video-recorded sessions, a focus group…