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.     

Consumer Preferences for the Predictive Genetic Test for Alzheimer Disease

The purpose of this study was to assess consumer preferences for predictive genetic testing for Alzheimer disease in the United States. A rating conjoint analysis was conducted using an anonymous online survey distributed by Qualtrics® to a general population panel in April 2011 in the United States. The study design included three attributes: Accuracy (40 %, 80 %, and 100 %), Treatment Availability (Cure is available/Drug for symptom relief but no cure), and Anonymity (Anonymous/Not anonymous). A total of 12 scenarios were used to elicit people’s preference, assessed by an 11-point scale. The respondents also indicated their highest willingness-to-pay (WTP) for each scenario through open-ended questions. A total of 295 responses were collected over 4 days. The most important attribute for the aggregate model was Accuracy, contributing 64.73 % to the preference rating. Treatment Availability and Anonymity contributed 20.72 % and 14.59 %, respectively, to the preference rating. The median WTP for the highest-rating scenario (Accuracy 100 %, a cure is available, test result is anonymous) was $100 (mean?=?$276). The median WTP for the lowest-rating scenario (40 % accuracy, no cure but drugs for symptom relief, not anonymous) was zero (mean?=?$34). The results of this study highlight attributes people find important when making the hypothetical decision to obtain an AD genetic test. These results should be of interests to policy makers, genetic test developers and health care providers.     

Depression and Suicidal Ideation After Predictive Testing for Huntington's Disease: A Two-Year Follow-up Study

The present study reports a two-year follow-up of psychological effects of predictive testing for Huntington's disease. Questionnaires assessing depression, general health, well-being, self injurious behavior, life satisfaction, and lifestyle were completed by 35 carriers and 58 non-carriers before the predictive test, and 2, 6, 12, and 24 months afterwards. Both carriers and non-carriers showed high suicidal ideation before the predictive testing. Depression scores and frequency of suicidal thoughts increased for carriers, compared to non-carriers, over time. There were no differences regarding life satisfaction or life style between carriers and non-carriers. Predictive testing was beneficial in reducing overall ill-health symptoms and increasing well-being for those initially expressing concern about Huntington's disease. The importance of assessing suicidal ideation and of continuing to provide adequate support is emphasized.     

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.     

Initiation of Reflective Frames in Counseling for Huntingtons Disease Predictive Testing

Genetic professionals and clients are likely to assign different meanings to the extended format of the counseling protocols for predictive testing. In order to facilitate informed, client-centered decisions about the possibility of predictive testing, counselors routinely use the question format to initiate what we call "reflective frames" that invite clients to discuss their feelings and encourage them to adopt introspective and self-reflective stances toward their own experience--spanning the past, the present, and the hypothetical future. We suggest that such initiations of reflective frames constitute a key element of counselors' nondirective stance, although the exact nature of their formulations can be complex and varied. Examining 24 Huntington's Disease (HD) clinic sessions involving 12 families in South Wales with the tools of discourse analysis, our focus in this paper is twofold: (i) to propose a classification of six types of reflective questions (e.g. nonspecific invites, awareness and anxiety, decision about testing, impact of result, dissemination, and other) and to examine their distribution across the various clinic appointments, and (ii) to investigate the scope of these questions in terms of temporal and social axes. We link our analysis to the current debate within the genetic counseling profession about the merits of reflection- versus information-focused counseling styles and the need to abide by professionally warranted and institutionally embedded counseling protocols.     

Stereotype Threat and Employment Testing: A Commentary

This article comments on Sackett, Schmitt, Ellingson, and Kabin's (2001) suggestion that stereotype threat may not generalize to employment testing, and the 4 articles of this issue following from it. We argue that each experiment lacked the no-stereotype threat control group needed to experimentally test stereotype threat effects; that sizeable stereotype threat effects occurred nonetheless; and that research not reviewed by Sackett et al. suggests that stereotype threat may be the sole cause of important real-life test-score gaps. The 4 experiments, we suggest, reveal important mediators of stereotype threat effects; their test-specific and general form, and their generalizability to IQ testing. We offer a framework for assessing its generalizability to real-life employment tests.     

Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics

Early-onset Alzheimer disease (AD) accounts for only 5% of all cases of Alzheimer disease. To date, mutations in three different genes, the Amyloid precursor protein (APP), Presenilin 1 (PS1), and Presenilin 2 (PS2), have been identified as causative in early-onset AD, making predictive testing possible. Predictive testing for early-onset Alzheimer disease is a relatively new phenomenon. This paper describes the process of identifying a new mutation in the APP gene associated with early-onset AD, notifying family members, and offering participation in research as well as predictive testing. The goal is to share the complexities of predictive testing in a sibship newly identified as being at risk for an adult-onset, incurable neurodegenerative disease.     

Policy Recommendations for Carrier Testing and Predictive Testing in Childhood: A Distinction That Makes a Real Difference

The genetic testing of children raises many ethical concerns. This paper examines how five position statements from Canada, UK and USA, which present guidelines for good practice in this area produce different recommendations for carrier testing and predictive testing. We find that the genetic information generated through carrier testing is routinely presented as less serious than that generated from predictive testing. Additionally, the reproductive implications of predictive testing are also routinely erased. Consequently, the papers argue strongly against predictive testing but advise caution against carrier testing in somewhat weaker terms. We argue that these differences rest on assumptions about the status of reproduction in people’s lives and on an ethical stance that foregrounds the self over others. We propose that questioning the crude and sharp distinction between carrier and predictive testing in principle may enable practitioners and parents/families to make more nuanced decisions in practice. Parts of this work have been presented in the 1st International CESAGen Conference, London, 2004, and Genetics and Society Meetings, Wales.     

International Guidelines on Computer-Based and Internet-Delivered Testing: A Practitioner's Perspective

This article sets out a practitioner's perspective on the International Test Commission (ITC) guidelines. After setting the scene and describing the testing environment in which the need for the Guidelines on Computer-Based and Internet-Delivered Testing (ITC, 2005) is established, the article goes on to identify specific issues of relevance to the international practitioner. The main contributions made by the guidelines are each addressed in the light of their perceived relevance and utility. In the process, a number of limitations are identified, and suggestions as to how these might be overcome are offered. The article concludes by welcoming the guidelines as offering a constructive and relevant baseline from which to take the testing industry forward in a time of rapid technological change.     

An Interpersonal Perspective on Dreams: Commentary on Paper by Hazel Ipp

A basic rhythm of breakdown–recovery, with many offshoots and permutations, characterizes aspects of psychic life. This rhythm threads its way through Elkin's, Winnicott's, and Bion's work and plays an important role in the unconscious processing of affects. If this rhythm is damaged or jammed, affect processing goes awry. Dream work helps initiate affect processing, a kind of emotional digestion. If the dream work's rhythm of breakdown–recovery is damaged, one lives in a state of chronic emotional indigestion or starvation. Clinical work, including a child's dream of the World Trade Center disaster, illustrates the discussion.     

Predictive Testing of Eighteen Year Olds: Counseling Challenges

Genetic counseling of teenagers is challenging and complex. The ability to think abstractly, a sense of self and independence from family all develop during adolescence. Predictive genetic testing counseling protocols presuppose that these qualities exist, requiring the at-risk individual to consider the short and long term consequences of testing as well as their motivations. Eighteen year olds are in transition from adolescence to adulthood; eligible for predictive genetic testing, they may not yet be independent of their family or able to articulate their feelings. This paper presents case studies from the authors' clinical practice to illustrate some of the difficulties faced by genetic counselors when 18 year olds request predictive testing for Hereditary Non-Polyposis Colorectal Cancer. By reflecting upon their experiences with these young adults and their families, the authors' intention is to generate discussion about genetic counseling strategies, particularly for predictive genetic testing, that are both age-appropriate and family-sensitive.     

医事法学视野下患者同意能力的判断

同意能力是知情同意理论中的重要概念,是患者行使自主决定权的必备前提条件.在医事法学视野下展开研究,对目前理论和立法现状进行分析,把客观定型化的年龄界限与量化评定工具相结合,共同构成我国患者同意能力的判断标准.为该领域研究提供思路,进一步完善我国知情同意理论体系.     

Psychosocial Impact of Predictive Testing for Illness on Children and Families: Challenges for a New Millennium

Predictive testing for adult- and child-onset diseases is becoming widely available. The identification of individuals prone to develop certain illnesses is often medically advantageous in that it may afford opportunities to engage in risk reduction behaviors to detect or delay disease onset. However, sometimes the knowledge gained from these tests can be ambiguous, generate distress, and potentially affect several generations of family members. Overall, these factors create a challenging set of circumstances for persons considering genetic and other forms of predictive testing, particularly parents and children. In this article, we (1) address conceptual issues involved in determining the impact of predictive testing on child and family well-being, (2) review empirical data on this topic, and (3) provide a case example to illustrate these findings. Recommendations are made for additional psychological research on child- and family-focused outcomes associated with participation in testing, highlighting their clinical implications.     

Teaching the Rorschach and Learning Psychodiagnostic Testing: A Commentary on Hilsenroth and Handler (1995)

A recent report by Hilsenroth and Handier (1995) surveyed graduate students impressions of their predoctoral-level training on the Rorschach method. My commentary underscores two central points from their article: (a) the problem of program specialization, in a crowded curriculum, and (b) students indication of a need for more secure grounding in personality theory and clinical diagnosis. The focus of these remarks concerns current trends in clinical psychology education, their implications for training in psychological assessment, establishing a reasonable upper limit of solid competence, for achieving a journeyman level of ability, and some considerations about a suitable role for continuing education workshops. A sharp distinction between filling in gaps in knowledge and compensating for fundamental deficiencies is emphasized in this context.     

Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents

Healthcare professionals (HCPs) regularly face requests from parents for predictive genetic testing of children for adult-onset conditions. Little is known about how HCPs handle these test requests, given that guidelines recommend such testing is deferred to adulthood unless there is medical benefit to testing before that time. Our study explored the process of decision-making between HCPs and parents. Semi-structured interviews were conducted with 34 HCPs in 8 regional genetic services across the UK, and data were thematically analysed. We found that instead of saying ‘yes’ or ‘no’ to such requests, many HCPs framed the consultation as an opportunity to negotiate the optimal time of testing. This, they argued, facilitates parents’ considered decision-making, since parents’ eventual decisions after requesting a test was often to defer testing their child. In cases where parents’ requests remained a sustained wish, most HCPs said they would agree to test, concluding that not testing would not serve the child’s wider best interest. As a strategy for determining the child’s best interest and for facilitating shared decision-making, we recommend that HCPs re-frame requests for testing from parents as a discussion about the optimal time of testing for adult-onset disease.