Illness representations,knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases

This study addresses the relation between illness representations, knowledge and motivation to perform the presymptomatic testing (PST) of subjects at-risk for Familial Amyloydotic Polyneuropathy (FAP), Huntington’s disease (HD) and Machado–Joseph disease (MJD), compared with subjects at-risk for Hereditary Hemochromatosis (HH). The sample comprised a clinical group of 213 subjects at genetic risk for FAP, HD and MJD, and a comparison group of 31 subjects at genetic risk for HH, that answered three open-ended questions relating illness representations, knowledge about the disease, and motivation to perform PST. People at-risk for FAP, HD and MJD use more metaphors, make more references to the family, are more concerned with the future and feel more out of curiosity and to learn, than for HH. These subjects at-risk correspond to the profile of somatic individual or personhood, wherein the unsubjectivation of the disease can function as a coping mechanism.     

Psychological impact of the development of a presymptomatic test for Huntington's disease

For the first time, a genetic probe can provide individuals at risk for Huntington's disease (HD) with diagnostic information regarding this progressive genetic disorder before symptoms are exhibited. This article investigates the effects of such a technology on the at-risk HD population. At-risk HD individuals were informed about the genetic probe, and their level of anxiety was assessed. A group conference format was an effective means of providing information regarding the HD probe to a large number of at-risk families. Findings from the measure of anxiety demonstrate that the at-risk HD population is no different from a normative population or from an at-risk HD population unfamiliar with the new technology.     

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.     

Genetic Counselors’ Perceived Responsibilities Regarding Reproductive Issues for Patients at Risk for Huntington Disease

Research indicates that health care professionals’ attitudes may affect patients’ decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors’ initial expectations of at-risk patients’ beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes. For example, participants identified their primary responsibility as information provision; less prevalent were psychosocial support and facilitating decision making. The most common ethical challenge was testing prenatally for HD which also results in presymptomatic testing of minors. Participants were divided about how directive to be in response to this ethical issue and about termination of a gene positive pregnancy.     

The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease

Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors’ perceptions of the shift in age. Data from the US HD testing centers (N?=?4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p?=?0.045). HD community members (N?=?77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite “To learn whether or not you would develop HD” and “To make choices about further education or a career” compared to older individuals (p?<?0.05). Conversely, older individuals more frequently cited “To give children a better idea of their risk” (p?<?0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient’s age and serve as a starting point for more research into the relationship between age at testing and motivations for testing.     

Role of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent

To identify possible factors affecting the psychological impact of pre-symptomatic testing for spinocerebellar ataxia type 2 (SCA2) and familial amyloid polyneuropathy (FAP ATTRV30M), we studied (1) the effect of previous experience with the disease in the family, (2) kinship with the closest affected relative and (3) gender of affected parent, when adapting to test results; as well as (4) differences in the course of psychological wellbeing in 63 subjects ( 28 at-risk for FAP ATTRV30M, and 35 at risk for SCA2), who pursued predictive testing for these diseases, in Cuba and in Portugal. Our research shows that individuals with little or no experience with the disease in their family exhibited more anxiety; at-risk subjects for SCA2 or FAP ATTRV30M who had a first degree relative with the disease showed lower levels of anxiety and depression during pre-symptomatic testing. Also those with an affected mother had lower levels of depression, either immediately, or one year after receipt of test results. Adaptation to pre-symptomatic testing results differed for subjects at-risk for the two different conditions. Unlike the FAP ATTRV30M families, carriers for SCA2 reported pathological levels of depression immediately after-testing (3 weeks), although those levels had returned to normal levels at 6 months. Subjects at-risk for FAP ATTRV30M tended to have less anxiety than those tested for SCA2, at the one-year follow-up. Overall, depression levels improved over time, while anxiety remained more constant. A longer awareness of the disease in the family, closer kinship, and a transmitting mother all lessened the impact of pre-symptomatic testing, as expressed by the post-test levels of anxiety and depression.     

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.     

Understanding responses to predictive genetic testing: A grounded theory approach

Abstract

In view of the absence of data concerning the understanding and experience of families in which one or more members have undergone predictive genetic testing, a pilot study using a qualitative methodology was conducted with members of families at risk for the late-onset genetic disease, familial adenomatous polyposis (FAP). Semistructured interviews were conducted to elicit illness representations, with responses tape-recorded and analysed using a grounded theory approach. Several themes emerged. The most striking was that when genetic testing indicated an extremely low risk of developing the disease, there was a desire to continue regular bowel screening, even though it was experienced as extremely aversive. Possible explanations draw upon both other themes of the interviews, and psychological models. The role of “functional pessimism” and “uncertain wellness” in maintaining a high threat from the disease, and the role of reinforcement and the nature of tests in providing bowel screening with a high value are discussed.     

“What Would You Do if You Were Me?” Effects of Counselor Self-Disclosure Versus Non-disclosure in a Hypothetical Genetic Counseling Session

Two prior studies suggest genetic counselors self-disclose primarily because patients ask them to do so (Peters et al., 2004; Thomas et al., 2006). However, scant research has investigated effects of counselor disclosure on genetic counseling processes and outcomes. In this study, 151 students (98 undergraduates, 53 graduates) completed one of three surveys describing a hypothetical genetic counseling session in which a patient at risk for FAP was considering whether to pursue testing or surveillance procedures. Dialogue was identical in all surveys, except for a final response to the question: “What would you do if you were me?” The counselor either revealed what she would do (Personal Disclosure), what other patients have done (Professional Disclosure), or deflected the question (No Disclosure). Imagining themselves as the patient, participants wrote a response to the counselor and indicated their perceptions of her. Participants rated the non-disclosing counselor significantly lower in social attractiveness than either disclosing counselor, and less satisfying than the professional disclosing counselor. Analysis of written responses yielded four themes: Made Decision, Sought Information, Expressed Thoughts/Feelings, and No Decision. Practice implications and research recommendations are provided.     

Illness perceptions and coping explain well-being in patients with Huntington's disease

This study sought to investigate the contribution of illness perceptions and coping mechanisms to the explanation of well-being of patients with Huntington's disease (HD). We investigated the Leventhal et al. assumption of the Self-regulation Model that coping mediates the relationship between illness perceptions and patients’ well-being. Illness perceptions, coping, and well-being in 77 HD patients were assessed with validated questionnaires; motor performance and cognitive performance were assessed with Huntington's disease-specific measures. The assumption that illness perceptions influence HD patients’ well-being via coping was not supported. The results indicate that both coping and illness perceptions made a major contribution to the explanation of variance in HD patients’ psychosocial well-being. Variance in their physical well-being was explained by illness perceptions mainly. The need to conduct further research on the interrelationships between illness perceptions, coping, and well-being in this patient category is discussed.     

Nonparticipation in Huntington's Disease Predictive Testing: Reasons for Caution in Interpreting Findings

When given the opportunity to clarify their genetic status, most individuals at risk for Huntington's disease (HD) currently show a preference not to know. Our understanding of the characteristics of those who do not request HD predictive testing, and the factors influencing their decision, lags behind our knowledge of test applicants. In the light of our experience with interviewing a random sample of nonparticipants in an ongoing study, we critically analyze research concerning the differences between participants and nonparticipants in HD predictive testing programs and the interpretive characterization of these two groups. The findings concerning nonparticipants are limited to a small sample of the at-risk population, with the problems of biased samples and low response rates. We discuss this and other aspects of research in this area, notably the context and timing of data collection and the predominantly questionnaire-based methodology, that lead us to interpret the conclusions drawn about these two groups with caution.     

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.     

Action‐semantic and syntactic deficits in subjects at risk for Huntington's disease

Frontostriatal networks play critical roles in grounding action semantics and syntactic skills. Indeed, their atrophy distinctively disrupts both domains, as observed in patients with Huntington's disease (HD) and Parkinson's disease, even during early disease stages. However, frontostriatal degeneration in these conditions may begin up to 15 years before the onset of clinical symptoms, opening avenues for pre‐clinical detection via sensitive tasks. Such a mission is particularly critical in HD, given that patients’ children have 50% chances of inheriting the disease. Against this background, we assessed whether deficits in the above‐mentioned domains emerge in subjects at risk to develop HD. We administered tasks tapping action semantics, object semantics, and two forms of syntactic processing to 18 patients with HD, 19 asymptomatic first‐degree relatives, and sociodemographically matched controls for each group. The patients evinced significant deficits in all tasks, but only those in the two target domains were independent of overall cognitive state. More crucially, relative to controls, the asymptomatic relatives were selectively impaired in action semantics and in the more complex syntactic task, with both patterns emerging irrespective of the subjects’ overall cognitive state. Our findings highlight the relevance of these dysfunctions as potential prodromal biomarkers of HD. Moreover, they offer theoretical insights into the differential contributions of frontostriatal hubs to both domains while paving the way for innovations in diagnostic procedures.     

What Do Genetic Counselors Learn on the Job? A Qualitative Assessment of Professional Development Outcomes

Professional development is an important goal for professionals in human service fields such as counseling, teaching, and nursing. However, there are relatively few published papers on this topic specific to genetic counselors, and no studies systematically examine the outcomes of their professional development. This study was designed to investigate genetic counselors’ perceptions of their post-degree learning and to compare themes in their learning to those of psychotherapist professional development models. Two hundred ninety-three genetic counselors completed the demographics portion of an anonymous online survey, and of these, 185 also responded to at least one of two open-ended items: What is the most important thing you have learned about yourself in your practice as a genetic counselor? and What advice would you give to genetic counseling students just starting their career? An interpretative content-analysis method was used to extract three major themes: Intrapersonal lessons, Interpersonal lessons, and Professional lessons. Training and practice implications and research recommendations are provided.     

Put Yourself at the Helm: Charting New Territory,Correcting Course,and Weathering the Storm of Career Trajectories

What bearing have you set you set your sights on? How do you navigate the ever-changing swells and winds of our professional landscape? Are you feeling a nebulous desire for change, that your career is not going in the direction you were expecting, worry about lack of future opportunities, or even a deep dissatisfaction in your current position? You are not alone. The formation of the Committee on Advanced Training for Certified Genetic Counselors (CATCGC) was partly in response to such sentiments, expressed within a vibrant dialogue amongst members of the genetic counseling community. The CATCGC sought to understand how genetic counselors chart courses for their careers by conducting a Decision Points exercise during a pre-conference symposium (PCS) at the 2014 NSGC Annual Education Conference. Participants were asked to identify a decision point at which they were most satisfied with their careers and one at which they were least satisfied and to describe the situation, their personal goals and intentions, any actions they took, and the outcomes. Qualitative analysis in the constructivist tradition was conducted on participants’ responses and facilitators’ notes from the PCS to explore what personal meanings were made of the decision points; twelve themes related to Career High Points, Low Points, and how genetic counselors made career transitions were identified. Using a constructivist framework, themes are presented in the context of the authors’ personal experiences, and the authors’ share their reflections on these data. We wrote this article to offer you a window into your peers’ experiences - the good, the bad, and the ugly - hoping to encourage and challenge you to reflect deeply, no matter where you are on your career journey.     

What to Do with a Second Chance in Life? Long-Term Experiences of Non-carriers of Huntington’s Disease

Little is known about how people’s lives are influenced when going from a 50% risk status of Huntington’s disease (HD) to no risk after performing predictive testing. In this study, 20 interviews were conducted to explore the long-term (>?5 years) experiences after receiving predictive test results as a non-carrier of HD. The results showed a broad variety of both positive and negative reactions. The most prominent positive reaction reported was feelings of relief and gratitude, of not carrying the HD mutation for themselves and for their children. Also, the non-carrier status promoted in some individuals’ significant life changes such as a wishing to have (more) children, pursuing a career or breaking up from an unhappy relationship. However, negative reactions on their psychological well-being were also described. Some had experienced psychological pressure of needing to do something extraordinary in their lives; others expressed feelings of guilt towards affected or untested siblings, resulting in sadness or clinical depression. The new genetic risk status could generate a need of re-orientation, a process that for some persons took several years to accomplish. The results of the present study show the importance of offering long-term post-result counselling for non-carriers in order to deal with the psychological consequences that may follow predictive testing.     

Discovering the Family History of Huntington Disease (HD)

A considerable body of research has explored both predictive genetic test decisions for Huntington disease (HD) and the impact of receiving a test result. Extant research reveals little, however, about how and when at risk persons first discover their family history of HD. Drawing upon 24 semi-structured interviews with at risk persons and their family members, this study explored initial discovery of HD in the family. Qualitative data analysis revealed four different, though sometimes related, trajectories of discovery: (1) something is wrong, (2) out of the blue, (3) knowing, but dismissing, and 4) growing up with HD. These pathways highlighted the importance of the temporal and historical contexts in which genetic risk for HD was discovered. Notably, ignorance about HD was the most salient feature shaping participants' narratives of discovery. Implications for research and clinical practice are discussed.     

Diversity and General Student Scholarship Recipient Essays: 2010 National Society of Genetic Counselors Membership Committee

In an effort to increase the diversity of the membership of the National Society of Genetic Counselors (NSGC), the Membership Committee provided two $500 scholarships to genetic counseling students planning to attend the NSGC AEC meeting in Dallas, Texas in October 2010. Requirements for applicants of both scholarships included enrollment in the fall of 2010, good standing at an accredited genetic counseling training program, and NSGC membership or plans to join in 2011. Students who are from communities underrepresented in the NSGC, including, but not limited to, those of minority cultural/ethnic backgrounds and those with disabilities were eligible to apply for the “Diversity” scholarship. Students from all backgrounds who have an interest in diversity issues were eligible to apply for the “General” scholarship. Applicants wrote essays 1000 words or less answering the following questions: How has your identity as a member of a group underrepresented in the genetic counseling profession affected your pursuit of this career? What do you feel is lacking in genetic counseling to address the issues of underrepresented groups? What strategies do you recommend for addressing these issues and/or increasing diversity? Why do you think diversity is an important issue for the field of genetic counseling? What strategies do you recommend to attract and retain students, especially those from underrepresented populations, into the field of genetic counseling? How do you envision contributing to these strategies? The essays by the award recipients elucidated interesting perspectives and ideas for increasing diversity in the genetic counseling profession.     

Amyotrophic Lateral Sclerosis in a Patient with a Family History of Huntington Disease: Genetic Counseling Challenges

Amyotrophic lateral sclerosis (ALS) and Huntington disease (HD) are generally considered to be distinct and easily differentiated neurologic conditions. However, there are case reports of the co-occurrence of ALS with HD. We present a 57-year-old male with a clinical diagnosis of sporadic ALS in the context of a family history of HD. This case adds to the limited literature regarding individuals with a family history of HD who present with features of ALS. There were several genetic counseling challenges in counseling this patient including the diagnostic consideration of two fatal conditions, complex risk information, the personal and familial implications, and the patient’s inability to communicate verbally or through writing due to disease progression. DNA banking effectively preserved the right of our patient and his wife not to learn his HD genetic status during a stressful time of disease progression while providing the option for family members to learn this information in the future if desired. We present lessons learned and considerations for other clinical genetics professionals who are presented with similar challenging issues.