“Grasping the Grey”: Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease

Since the discovery of the genetic mutation underlying Huntington disease (HD) and the development of predictive testing, the genetics of HD has generally been described as straightforward; an individual receives either mutation-positive or negative predictive test results. However, in actuality, the genetics of HD is complex and a small proportion of individuals receive an unusual predictive test result called an intermediate allele (IA). Unlike mutation-positive or negative results, IAs confer uncertain clinical implications. While individuals with an IA will usually not develop HD, there remains an unknown risk for their children and future generations to develop the disorder. The purpose of this study was to explore how individuals understood and interpreted their IA result. Interviews were conducted with 29 individuals who received an IA result and 8 medical genetics service providers. Interviews were analyzed using the constant comparative method and the coding procedures of grounded theory. Many participants had difficulty “Grasping the Grey” (i.e. understanding and interpreting their IA results) and their family experience, beliefs, expectations, and genetic counseling influenced the degree of this struggle. The theoretical model developed informs clinical practice regarding IAs, ensuring that this unique subset of patients received appropriate education, support, and counseling.     

Huntington disease: A case study describing the complexities and nuances of predictive testing of monozygotic twins

When a candidate for predictive testing for the Huntington disease gene is a monozygotic twin, confidentiality of the co-twin's diagnosis and autonomy of participation are among the critical genetic counseling issues. Predictive testing can proceed when twins voluntarily and simultaneously request counseling and evaluation in an HD testing program. This case describes a young man referred for predictive testing to an HD testing site on the East Coast of the United States. Family history revealed a twin brother of unknown zygosity who resided on the West Coast of the United States. The genetic counselors on opposite coasts collaborated to provide genetic counseling and evaluation for voluntary, informed predictive testing of the twins, protecting their rights while observing national protocol guidelines.     

Prospective Evaluation of Predictive DNA Testing for Huntington’s Disease in a Large German Center

We present a prospective study of counselees seeking predictive testing for Huntington’s disease at the Huntington Center North Rhine-Westphalia (Bochum, Germany) between 2010 and 2012. The aim was to observe the decision-making process of at-risk individuals and explore their experiences following the decision as well as the impacts of positive and negative mutation results. Data were collected using two standardized questionnaires as well as via a semi-standardized telephone interview one year after the initial counseling session. Seventy-two  individuals participated in at least one of the three phases of the survey, including 31 individuals in the telephone interview. Sociodemographic data were in accordance with previous reports. The process of predictive testing was generally perceived in a positive manner, with almost all interviewees reporting a balanced emotional state one year after initial counseling, regardless of the decision for or against the test. The most important reasons named in favor of or against testing were assembled as well as different aspects regarding the satisfaction with the reached decision. In line with and expanding previous observations on gender-related differences in decision-making, our results suggest that gender-related aspects should be more strongly taken into account in genetic counseling during the predictive testing and counseling processes.     

Genetic Testing and Parkinson Disease: Assessment of Patient Knowledge,Attitudes, and Interest

The most common genetic contributor to late-onset Parkinson disease (PD) is the LRRK2 gene. In order to effectively integrate LRRK2 genetic testing into clinical practice, a strategy tailored to the PD population must be developed. We assessed 168 individuals with PD for baseline knowledge of genetics, perceived risk, and interest and opinions regarding genetic counseling and testing. Most participants felt that they were familiar with general genetics terms but overall knowledge levels were low, with an average score of 55%. The majority of participants thought it was likely they inherited a PD gene (72%), believed genetic testing for PD would be useful (86%), and were interested in genetic testing (59%) and genetic counseling (56%). However, only a few participants had heard of any genetic tests for PD (29%) or LRRK2 (10%). There appears to be a significant level of interest in genetics and genetic testing within the PD population, but a considerable deficit in genetics knowledge and an over-estimation of risk. Genetic education and counseling tools to address these needs were developed to provide patients with the ability to make informed and knowledgeable genetic testing decisions.     

How Do Partners Find out About the Risk of Huntington’s Disease in Couple Relationships?

Whilst a growing body of work has explored family communication about Huntington’s disease and how at-risk individuals learn about their risk, the experience of telling a partner and partners’ experiences of finding out about this potentially devastating hereditary illness have received little attention. This study describes the experiences of partners in finding out about Huntington’s disease and any impact on couple’s relationships/marriages. We undertook a thematic analysis of qualitative interviews which explored the dynamics of partners’ marriages after predictive testing and partners’ views of genetic counseling. A main theme from partners’ accounts was how they found out about their spouse’s risk of Huntington’s disease and the impact this had on marital relations. The analysis revealed four types of disclosure experiences: (1) marital secrets; (2) alerting, but not telling; (3) knowing and seeing; (4) marital ignorance. Our findings demonstrate that partners’ experiences of (non)disclosure about the risk of HD within marriages is an important factor which contributes to couples’ coping or marital problems. Exploring how spouses found out about their partner’s risk of HD will illuminate issues about a couple’s past and future patterns of communication and their coping strategies. A practical and ethical implication is the extent to which genetic counselors should inform partners about the course and nature of Huntington’s disease when a partner is the support person for the individual being tested.     

Coping with Genetic Risk: Living with Huntington Disease (HD)

Rapid developments in genetics suggest that more and more people will be identified ‘at risk’ for common illnesses. Genetic discoveries have the potential to improve disease outcomes, but they also highlight gaps in our knowledge about patient-level factors such as how individuals respond to a genetic threat to their health and how they cope with that threat. There have been few empirical applications of psychological theories to understand genetic testing decisions and outcomes, although there have been calls for this approach. Drawing upon interviews with individuals at risk for (or with) Huntington disease (HD), this study adopts a stress and coping framework to explore how people cope with genetic illness in the family. Qualitative data analyses revealed that coping strategies were dynamic and varied but could be classified as 1) primary control coping, 2) secondary control coping and 3) social comparison strategies. Important distinctions were observed in coping strategies among those who had undergone genetic testing and received a test result, those who remained at risk, and those affected with HD, along with their caregivers. Implications for clinical practice and genetics health services are discussed.     

Presymptomatic testing for huntington diseases: Recommendations for counseling

The discovery of a genetic marker linked to the Huntington disease (HD) gene made it possible to perform presymptomatic genetic testing for this late onset disorder. The first two pilot research programs in the United States, at Massachusetts General Hospital and Johns Hopkins Hospital, began offering testing in the Fall of 1986. Twenty-three centers are now offering this testing as part of their clinical service. As testing for this and other late onset diseases becomes more widespread, it is important to assess what we have learned about offering this test to those at risk. This article presents recommendations based on the author's 5 years of experience offering presymptomatic testing for HD in order to alert counselors to the complexities of offering this type of service.     

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease

This paper reflects on experience gained from presymptomatic testing for Huntington disease. An approach is presented which considers the role of the clinician and aims of the interview. Irrespective of the disease being tested for, it is suggested that the psychological aim of presymptomatic testing is to foster emotional insight and understanding that will help clients in their decision-making process about testing and their subsequent adjustment to the result. Based on these aims the process of presymptomatic testing, counseling is considered in terms of clarification, consideration, education, and reflection, followed by decision making. Practical approaches are discussed and illustrated with clinical examples.     

The Confluence of Psychiatric Symptoms and Neurodegenerative Disease: Impact on Genetic Counseling

Hereditary neurodegenerative diseases can present with a psychiatric prodrome that overlaps with psychiatric symptoms that are not primary to these diseases. When individuals present for predictive testing while experiencing such symptoms, clinicians including genetic counselors, must proceed with caution and evaluate each situation on a case-by-case basis. Legitimate reasons may exist for moving forward with testing. Additionally predicting the consequences of testing is unrealistic so that the clinicians must do their best to prepare patients for both positive and negative results. A multidisciplinary team following the Huntington disease protocol remains the gold standard care for predictive testing for such patients. We discuss 3 case histories that demonstrate the complex nature of genetic counseling and testing in the presence of psychiatric symptoms, whether emanating from the disease itself or the results of living in an affected family.     

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors

Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictive testing for HD consists of young adults (≤35 years old). Finishing one’s education, starting a career, engaging in romantic relationships and becoming a parent are key milestones of young adulthood. We conducted a qualitative study to explore how testing gene-positive for HD influences young adults’ attainment of these milestones, and to identify major challenges that pre-symptomatic young adults face to aid the development of targeted genetic counseling. Results of our study demonstrate that 1) knowing one’s gene-positive status results in an urgency to reach milestones and positively changes young adults’ approach to life; 2) testing positive influences young adults’ education and career choices, romantic relationships, and family planning; 3) young adults desire flexible and tailored genetic counseling to address needs and concerns unique to this population. Findings of this study contribute to the understanding of the impact of predictive testing for HD on young adults, and highlight issues unique to this population that call for further research, intervention and advocacy.     

Who Is at Risk for Psychological Distress in Genetic Testing Programs for Hereditary Cancer Disorders?

Presymptomatic identification of disease gene carriers is becoming an increasingly common part of the clinical management of hereditary cancer disorders. With an expected increase in the number of requests for DNA testing and the limited resources for counseling, the amount of time genetic counselors are able to spend with test candidates will decrease. It is therefore important for counselors to identify persons at risk for psychological distress. Based on a review of experiences with Huntington disease and cancer patients, we describe factors likely to evoke distress in genetic cancer candidates. We also discuss the sometimes widely different ways that test candidates and their partners respond to genetic testing. By exploring risk factors for distress in relevant domains of the research, we can offer counselors guidelines for determining who may need extra counseling.     

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

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.     

Genetic Counseling Services and Development of Training Programs in Malaysia

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.     

The Commercialization of Clinical Genetics: An Analysis of Interrelations Between Academic Centers and For-Profit Clinical Genetics Diagnostics Companies

The field of clinical genetics has undergone substantial commercialization, including the development of genetics diagnostics companies. Numerous for-profit corporations now offer genetic diagnostic services; until recently, these clinical services were provided almost exclusively through academic, not-for-profit medical centers. Some of these for-profit corporations have business and/or research relationships with academia. An evaluation of the interconnections between academia and the clinical genetics industry is an important first step in analyzing the risks and benefits of commercialization. We analyzed the personnel and business affiliations of 19 major U.S. for-profit clinical genetics diagnostics companies with universities, academic medical centers, and the scientific and medical genetics communities in a 2-year period, 1991–1992. We noted extensive connections between the for-profit sector and academia. At least 17% of high-ranking personnel and 85% of consultants for the companies had one or more academic ties. At least 68% of the companies had one or more business agreements with at least one university or academic medical center. These results raise many issues regarding the delivery of genetic medicine and the structure and function of academic medical genetics centers.     

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.     

Genomic Counseling: Next Generation Counseling

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.     

Parkinson’s Disease: Patients’ Knowledge,Attitudes, and Interest in Genetic Counseling

The objective of this study was to assess the genetics knowledge of patients with Parkinson’s disease (PD), and to explore their attitudes on genetic testing and interest in genetic counseling. We surveyed 158 patients from the University of Maryland Parkinson’s Disease and Movement Disorders Center. Patients averaged a score of 63% on general genetics knowledge and 73% on PD genetics knowledge. Participants had an overall positive attitude toward genetic testing: 80% believed that the use of genetic tests among people should be promoted, and 83% would undertake genetic test for PD if it was available. Patients reported a high interest to discuss the benefits, risks, and impacts of genetic testing for PD (mean sum score?=?26, range?=?9–35), and 43% patients expressed interest in meeting with a genetic counselor. Multivariate regression analysis showed that patients who had more positive attitudes toward genetic testing for PD were more interested in meeting with a genetic counselor (β?=?0.6, p?<?0.001). This study is the first to demonstrate an interest in genetic counseling among patients with PD. Our findings demonstrate a new niche for genetic counselors to support patients in clarifying gaps or misconceptions in knowledge about PD genetics as well as the possible risks, benefits, and limitations of genetic testing.     

A Patient's Perspective on Genetic Counseling and Predictive Testing for Alzheimer's Disease

The availability of genetic testing for Alzheimer's disease is anticipated to be widespread in the future. As an individual at risk with a family history of Alzheimer's disease, I discuss why I sought predictive tests and how I would use the information from such tests. I relay what I learned in my genetic counseling session, my response to the counseling process, and steps I have since taken. I discuss life planning, psychological and fear of discrimination issues from a patient's perspective.     

Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommendations, and coordination of therapy. The purpose of this document is to provide health care professionals with guidelines for testing, care coordination, identification of psychosocial issues, and to facilitate a better understanding of disease treatment expert recommendations for patients with 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 representatives/founders of the two United States based Fabry disease patient advocacy groups who are themselves affected by Fabry disease. 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, interpretation of results, psychosocial considerations, and references to professional and patient resources.     

Inherited Thrombophilia: Key Points for Genetic Counseling

With the evolution of medical genetics to focus on highly prevalent, multifactorial conditions, it is inevitable that genetic counselors will be called upon to participate in the evaluation and counseling of individuals with inherited thrombophilia. The purpose of this review is to educate the genetic counselor on key issues related to risk assessment and genetic counseling for hereditary thrombophilia. The information contained in this document is derived from an extensive review of the literature, as well as the author's personal expertise. Upon completion of this review, the genetic counselor will be able to: a) describe inherited and acquired risk factors for thrombosis, b) collect and interpret personal and family histories to assess risk related to hereditary thrombophilia, c) discuss the potential advantages and disadvantages of thrombophilia testing, including psychosocial aspects and implications for medical management, and d) identify educational and support resources for patients and families.