Genetic Counseling Practice Research Articles

Is It Time to Embrace Telephone Genetic Counseling in the Oncology Setting?

Is It Time to Embrace Telephone Genetic Counseling in the Oncology Setting?

Evidence‐based genetic counselling implications for Huntington disease intermediate allele predictive test results

Intermediate alleles (IAs) for Huntington disease (HD) contain 27-35 CAG repeats, a range that falls just below the disease threshold of 36 repeats. While there is no firm evidence that IAs confer the HD phenotype, they are prone to germline CAG repeat instability, particularly repeat expansion when paternally transmitted. Consequently, offspring may inherit a new mutation and develop the disease later in life. Over the last 5 years there has been a renewed interest in IAs. This article provides an overview of the latest research on IAs, including their clinical implications, frequency, haplotype, and likelihood of CAG repeat expansion, as well as patient understanding and current genetic counselling practices. The implications of this growing evidence base for clinical practice are also highlighted. These evidence-based genetic counselling implications may help ensure individuals with an IA predictive test result receive appropriate support, education, and counselling.

Genetic Information, Non-Discrimination, and Privacy Protections in Genetic Counseling Practice

Genetic Information, Non-Discrimination, and Privacy Protections in Genetic Counseling Practice

Perceived risk following melanoma genetic testing: a 2-year prospective study distinguishing subjective estimates from recall.

A major goal of predictive genetic testing is to alert people to their risk before illness onset; however, little is known about how risk perceptions change following genetic testing and whether information is recalled accurately over time. In the United States, a CDKN2A/p16 mutation confers 76% lifetime risk of melanoma. Following genetic counseling and test reporting, subjective risk estimates and recall of counselor-provided risk estimates were assessed 5 times over the next 2years among 60 adult members of 2 extended CDKN2A/p16 kindreds. No sustained changes from baseline in risk perceptions were reported. Unaffected carriers (n = 15) consistently reported significantly lower subjective risk estimates (46%) than they were actually given (76%, p < 0.001) or recalled having been given (60%, p < 0.001). Noncarriers' (n = 27) risk estimates decreased following results disclosure, but rebounded, with both subjective and recalled estimates subsequently exceeding what they were told by the counselor (both ps < 0.001). Affected carriers' (n = 18) risk estimates for developing a new melanoma corresponded well to counselor-provided information (p = 0.362). For all 3 patient groups, results were consistent across multiple risk measures and remained similar when demographic, phenotypic, and baseline behavioral contributors to melanoma risk were statistically controlled. These findings are consistent with other studies of risk perception, but additional studies of more diverse populations are needed to understand the reasons behind both the persistence of initial risk estimates and their divergence from information provided by the counselor during genetic counseling. Additionally, determining whether holding subjective risk perceptions that differ from counselor-provided information ultimately affects adherence to management recommendations will help guide the presentation of risk information in genetic counseling practice.

A Genetic Counselor's Guide to Using Next‐Generation Sequencing in Clinical Practice

Advances in next-generation sequencing (NGS) and rapid reductions in cost have increased the use of such technologies in research and clinical practice. However, many barriers exist to translating NGS for routine clinical use, including issues related to the interpretation of results, and the potential to find results that are secondary or incidental to the specific application of NGS. Nonetheless, NGS has become sufficiently affordable to be offered by several clinical laboratories, and increasingly it is becoming an attractive and viable option for clinicians and patients. This article reviews current NGS technologies, highlighting the information genetic counselors need to know to make informed-decisions about utilizing NGS in the clinic, and underscoring the impact of this new testing modality on the practice of genetic counseling.

Ethical issues and Huntington's disease

The practice of genetic counselling gives rise to many ethical dilemmas, and counsellors need to be familiar with the principles of biomedical ethics. The primary principles include respect for autonomy, beneficence, non-maleficence and justice. A case of identical twins at 50% risk for Huntington's disease, in which only one twin sought predictive testing for this dominantly inherited disease, created several ethical dilemmas. Another case where predictive testing was carried out on two young children, at high risk, by a laboratory at the request of an adoption agency and a doctor, with a view to giving information to the foster parents, also posed many ethical conundrums for the counsellor. The ethical issues that arose in these cases are discussed in this paper.

Counseling for prenatal diagnosis and termination of pregnancy due to thalassemia major: a survey of health care workers' practices in Malaysia

Genetic counseling for thalassemia carriers is conducted by nongeneticist health care workers (HCWs) in many countries. The aim of the study was to assess Malaysian HCWs' genetic counseling practices with regards to discussing prenatal diagnosis (PND) and termination of pregnancy (TOP) when counseling thalassemia carriers. A total of 118 Malaysian HCWs (52 doctors and 66 nurses) completed a structured questionnaire that enquired if they would discuss PND and TOP when counseling couples with thalassemia traits, and reasons for their responses were explored. All the nurses and 50 (96.1%) doctors were in favor of discussing PND. Only 29 (58%) doctors and 33 (50%) nurses were agreeable to discuss about the option of TOP. Main reasons given for declining to discuss TOP were views that "the condition was not serious enough" (54.9%), TOP is not permissible by their religion (17.6%) and abortion for this indication was illegal (13.7%). The results showed that HCWs in Malaysia lacked the comprehensive information and necessary skills required when counseling thalassemia carriers. When nongeneticist HCWs are tasked with such responsibilities, their practices and attitudes should be regularly evaluated so that areas of deficiencies could be identified and addressed.

Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors

To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic counselors' knowledge and understanding of the available carrier screening and diagnostic testing options. 3) Describe the current state of genotype/phenotype correlations for CFTR mutations and an approach to interpreting both novel and previously described variants. 4) Provide a framework for genetic counselors to assist clients' decision-making regarding CF carrier testing, prenatal diagnosis, and pregnancy management. Disclaimer The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population.Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not "approve" or "endorse" any specific methods, practices, or sources of information.

Genetic Counselor Perceptions of Genetic Counseling Session Goals: A Validation Study of the Reciprocal‐Engagement Model

Although some researchers have attempted to define genetic counseling practice goals, no study has obtained consensus about the goals from a large sample of genetic counselors. The Reciprocal-Engagement Model (REM; McCarthy Veach, Bartels & LeRoy, 2007) articulates 17 goals of genetic counseling practice. The present study investigated whether these goals could be generalized as a model of practice, as determined by a larger group of clinical genetic counselors. Accordingly, 194 genetic counselors were surveyed regarding their opinions about the importance of each goal and their perceptions of how frequently they achieve each goal. Mean importance ratings suggest they viewed every goal as important. Factor analysis of the 17 goals yielded four factors: Understanding and Appreciation, Support and Guidance, Facilitative Decision-Making, and Patient-Centered Education. Patient-Centered Education and Facilitative Decision-Making goals received the highest mean importance ratings. Mean frequency ratings were consistently lower than importance ratings, suggesting genetic counseling goals may be difficult to achieve and/or not applicable in all situations. A number of respondents provided comments about the REM goals that offer insight into factors related to implementing the goals in clinical practice. This study presents preliminary evidence concerning the validity of the goals component of the REM.

Adding coping-related strategies to biomedical argumentation in computer-generated genetic counseling patient letters

ObjectivePreviously an experimental computer system was developed to automatically produce first drafts of genetic counseling patient letters containing biomedical evidence-based arguments. However, letters written by genetic counselors also employ strategies to help clients cope. The objectives of this research were to discover methods for addition of coping-related strategies to the drafts and to explore their efficacy. MethodsUsing an argumentation-based approach, the system design was modified to add coping-related strategies used by actual genetic counselors. An evaluation of computer-produced drafts was performed comparing those containing only biomedical arguments to those with coping strategies added to biomedical arguments. ResultsThe evaluation mainly found no significant impact of adding coping strategies. ConclusionThe main contribution of this work was to show how coping-related strategies can be produced by an artificial intelligence approach within an argumentation-based theoretical framework. A possible future application would be to improve computer-drafted genetic counseling patient letters. Practice implicationsComputer-assisted drafting of letters has potential to aid in the practice of genetic counseling. Further research is needed to demonstrate the efficacy of adding coping strategies to computer-produced drafts.

The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from

Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive testing of this condition. Between February 2001 and December 2011, a total of 1050 individuals requested their inclusion in the presymptomatic testing (PST) program. Their medical records were retrospectively analyzed in the present descriptive study. A total of 768 participants completed the protocol, 204 withdrew and 78 were excluded. The PST uptake was 24.91%. Females predominated and 70.96% had negative test results. Their main motivations were risk assessment in their descendants, physical and psychological preparation to cope with the disease and planning for the future. The profile of Cuban participants in the predictive testing program is similar to the one reported for other programs all over the world, nevertheless the genetic counseling practice at the community level is a distinctive aspect, which is valuable in providing at-risk individuals with wide and proper knowledge before their testing inclusion request. The SCA2 predictive testing program has high uptake rates and is renowned in our population. Future research is needed to assess the long-term psychological impact in the participants, their partners and relatives.

Telling genes: the story of genetic counseling in America

This is a comprehensive history of the development of the genetic counselling profession in America, although it must be said that it relates purely to North America, specifically the United States. The author is an historian and I found her research into the establishment of genetic counselling in the US by Sheldon Reed particularly impressive. Following an initial general history chapter, the book is organised into themes, including race, disability, prenatal diagnosis and a specific chapter on the contribution of women to the profession. The description of genetic counselling in the modern era is confined to that offered by genetic counsellors and does not include the same types of activities undertaken by medical geneticists or other health professionals. As a genetic counsellor, I found it interesting to look back on the antecedents of the modern genetic counselling profession. While there have been many changes due to the availability of advanced technology, the wish to address human needs is still clear in the many quotes from genetic counsellors. In one section, the author cites (p167) a woman who stated in 1977 that the most difficult part of prenatal testing was ending the pregnancy; this is no less true today, as evidenced by research into patient perspectives on non-invasive prenatal diagnosis. The book includes a discourse on the challenges involved in providing genetic services in the context of race or cultural differences, particularly as US genetic counsellors are predominantly from white middle class backgrounds. The section on the tensions experienced by genetic counsellors in relation to providing support for those with a disability, alongside offering prenatal testing for the same conditions, is well covered. The topic of nondirectiveness is also addressed, placed into the historical context of Rogerian counselling, with the changing views on the effectiveness of using a non-directive approach. However, it would have also been useful to bring Kessler’s views on non-directiveness versus coercion into the discussion. As with much of the book, I felt that this area of the book was incomplete and would have benefitted from bringing the discussion into the present with more current perspectives. There is a strong focus on particular personalities; in some cases (e.g. Sheldon Reed), this is entirely understandable. However, in other areas of the book, the reason for selectively discussing or interviewing particular individuals is not clear and the opinions of some informants are treated as factual. The book would have benefitted from a more critical appraisal of the material. For example, in one quotation, a contributor states that genetic counselling has proven its worth in getting patient-centred care into clinical medicine. There are health professionals in many settings with a long history of patient-centred care who would challenge that statement. In the final chapter, the author does attempt to look to the future with a discussion of the emergence of direct-toconsumer genetic tests and non-invasive prenatal testing, but there is little real synthesis of the different views of the future of genetic counselling. Overall, this is an interesting historical text that will add context to the practice of genetic counselling in North America and beyond.

Telling genes: the story of genetic counseling in America

For sixty years genetic counselors have served as the messengers of important information about the risks, realities, and perceptions of genetic conditions. More than 2,500 certified genetic counselors in the United States work in clinics, community and teaching hospitals, public health departments, private biotech companies, and universities. Telling Genes considers the purpose of genetic counseling for twenty-first century families and society and places the field into its historical context. Genetic counselors educate physicians, scientific researchers, and prospective parents about the role of genetics in inherited disease. They are responsible for reliably translating test results and technical data for a diverse clientele, using scientific acumen and human empathy to help people make informed decisions about genomic medicine. Alexandra Minna Stern traces the development of genetic counseling from the eugenics movement of the early twentieth century to the current era of human genomics. Drawing from archival records, patient files, and oral histories, Stern presents the fascinating story of the growth of genetic counseling practices, principles, and professionals.

Enhancing Family Communication About Genetics: Ethical and Professional Dilemmas

When a new genetic condition is diagnosed within a family, genetic counselors often describe a sense of responsibility towards other at risk family members to be appropriately informed about their status. Successful communication of genetic information in families is contingent on many factors. While a small number of probands directly state their intention not to inform their relatives, many who do intend to communicate this information appear to be unsuccessful for a wide range of reasons and may benefit from follow up support from a genetic counselor. Drawing on the reciprocal-engagement model (REM) of genetic counseling practice we explore how enhancing family communication about genetics raises a number of ethical and professional challenges for counselors-and describe how we resolved these. A subsequent manuscript will describe the counseling framework we have developed to enhance family communication about genetics.

Advances in Molecular Genetics of Hirschsprung's Disease

Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system, which occurs due to the failure of neural crest cells to fully colonize the gut during embryonic development. It is characterized by the absence of the enteric ganglia in a variable length of the intestine. Substantial progress has been made in understanding the genetic basis of HSCR with the help of advanced genetic analysis techniques and animal models. More than 11 genes have been found to be involved in the pathogenesis of HSCR. The RET gene is the most important susceptibility gene involved in HSCR with both coding and non- coding sequence mutations. Due to phenotypic diversity and genetic complexity observed in HSCR, mutational analysis has limited practical value in genetic counseling and clinical practice. In this review, we discuss the progress that has been made in understanding the molecular genetics of HSCR and summarize the currently identified genes as well as interactions between pathways and gene-modifying loci in HSCR.

The Department of Health-supported genetic counsellor training post scheme in England: a unique initiative?

Although the professional title 'genetic counsellor' has wide international recognition, formal courses or training programmes in genetic counselling exist in only a small number of countries. In 2002, voluntary registration of genetic counsellors in the UK began under the auspices of the Genetic Counsellor Registration Board. Practitioners are eligible for registration after 2years of genetic counselling practice and prior attainment of either a nursing or midwifery qualification with relevant Bachelor's degree or a Master's degree in genetic counselling. After a government commitment to increase the genetic counsellor workforce, the national professional organisation for genetic counsellors obtained government funding to expand training capacity for genetic counsellors through a training scheme. The Genetic Counsellor Training Post Scheme was designed to ensure that both appropriately qualified nurses and Master's level genetic counselling graduates were offered the opportunity to undertake a 2-year training period prior to registration. The scheme has proved highly successful. Of 43 trainees appointed, 42 went on to work as genetic counsellors, and 36 have already gained their professional registration. Details of this unique scheme including trainee outcomes and experiences are presented. This type of scheme may be appropriate for the development of the genetic counselling profession in other countries.

Quel avenir pour l’analyse génomique utilisée en diagnostic prénatal?

Through the development of new technologies, clinical geneticists will therefore have to face new kinds and sources of information. Rapid developments of high throughput technologies let expect that new genetic testing technologies will soon be implemented in clinical laboratories. Sequencing genes generates quantitatively abundance of data and qualitatively complex and heterogeneous information — with different levels of clinical relevance. As data interpretation becomes tougher and unexpected, health related information are more common, emerging technologies will obviously challenge medical practices. Prenatal counselling has to be non-directive, and respectful of parental decisions. As the volume and the complexity of information that need to be integrated in the families decision-making is increasing, individual decisions about prenatal diagnosis will be impracticable.We therefore aim to discuss the potential impact of this evolution on patient/clinician relation and its incidence about clinical practice. At a social level we have to evaluate the consequences regarding the management and the perception of genetic information. As this technology challenges drastically genetic counselling practices, ethical guidelines are urgently needed.

Gay, Lesbian, and Bisexual Patients’ Recommendations for Genetic Counselors: A Qualitative Investigation

Gay, lesbian, and bisexual (GLB) individuals comprise a growing patient population in genetic counseling. However, only one article from a genetic counseling journal provides empirical data on GLB patients' genetic counseling experiences and genetic counselor attitudes and practices regarding GLB patients. The present study, an extension of the aforementioned article, gathered further information about patients' genetic counseling experiences through semi-structured telephone interviews. Twelve of the previous study's 29 patient respondents (n = 10 lesbian women, n = 1 gay man, n = 1 bisexual woman) participated. Interview questions concerned the use of medically inclusive forms, factors influencing patient disclosure, counselors' ability to relate to them, and their expectations of genetic counselors. Inductive analysis of the interviews yielded seven themes: 1) Medically inclusive forms with gender neutral terms are important; 2) Genetic counselor ability to relate to a GLB person depends more on the relationship established during the session and less on external symbols; 3) The presence of GLB-friendly symbols increases comfort when disclosing one's orientation; 4) Inclusion of the patient's partner is important and best done by encouraging their active participation in sessions; 5) When GLB patients disclose their orientation, they expect to be treated like any other patient; 6) Providers should ask about orientation if medically pertinent and the remaining discussion should take orientation into consideration; and 7) When a provider inquires about orientation it should be done in a safe and appropriate way. Illustrative quotations, genetic counseling practice implications, and research recommendations are presented.

Direct‐to‐Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”

Technological advances and information-seeking consumers have pushed forward the movement of direct-to consumer(DTC) genetic testing. Just like with other types of testing, there are potential risks, benefits and limitations. A major limitation of DTC testing is the incomplete view it provides regarding lifetime risk for common, complex diseases,since most tests only analyze 1–2 single nucleotide polymorphisms (SNPs) and do not include evaluation of medical or family histories, which is necessary to risk assessment. Further, it is not currently well-established whether personal genomic testing results will lead toward improved health behaviors, adverse psychological effects or potential overuse of the health care system. To display these and other issues, we present an in-depth case study of an individual who ordered DTC genetic testing and subsequently sought genetic counseling. This case presents a unique learning experience for the field of genomic counseling, as the patient did not fit the typical assumptions regarding ‘early adopters’ of DTC testing. It also allowed the genetics health care providers involved in the case to identify gaps in current genetic counseling practice that need to be filled and approaches to employ for successful delivery of genomic counseling. Based on our experience, we developed practical recommendations for genomic counseling, which include novel approaches to case preparation, use of electronic tools during the counseling session, and focusing on education as the major component of the genomic counseling session, in order to provide patients with the knowledge necessary to independently interpret and understand large amounts of genomic testing information provided to them.

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.