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.     

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.     

Neurolinguistic features of spontaneous language production dissociate three forms of neurodegenerative disease: Alzheimer's, Huntington's, and Parkinson's

An analysis of the temporal (prospective) form (silent and filled hesitations, repetitions, incomplete phrases, context-related comments, interjections), syntactic form, and lexical (retrospective) form (verbal deviations, open and closed class phrases) of spontaneous language production of early and middle stage Alzheimer's, Huntington's, and Parkinson's patients was made. Results showed that the language structure was disrupted in each disease, but in different ways. Temporal interruptions of varying types were frequent in the language of Alzheimer's and Huntington's Disease patients; only long-duration silent hesitations were frequent in Parkinson's language samples. Syntactic complexity was reduced in Huntington's Disease. Verbal paraphasias were found in both the language of Alzheimer's patients, as well as moderately advanced Huntington's patients. Closed class phrases were predominant in the language of Alzheimer's patients and Huntington's patients, and open class phrases in the language of Parkinson's patients. Taken together, the results suggest that (1) there is a unique neurolinguistic profile for spontaneous language production for each neurodegenerative disease, (2) pathology of the neostriatum disrupts syntactic organization, (3) adaptive strategies are used to cope with verbal and speech-motor difficulties, and (4) adaptive strategies fail to be effective with increasing disease severity.     

Priming semantic relations in patients with Huntington's disease

To investigate the hypothesis that Huntington's Disease involves a breakdown in the organization of the lexico-semantic representational system, mildly and moderately demented patients with Huntington's Disease and age-matched normal control subjects were given a brief battery of language tests and a semantic priming free association task. Results of the language tests provided suggestive, but confounded, evidence for a semantic deficit in Huntington's Disease. Less equivocal evidence was yielded by results of the priming task, which showed a decline in the effect of association strength of primed stimulus-target word pairs on target hit rates. This finding was interpreted as a disruption in the system of spreading activation in a lexico-semantic network. This breakdown was contrasted with the more severe language deficits found in dementias which are primarily cortical in origin.     

Intentions to use predictive testing by those at risk for Huntington's disease: Implications for prevention

Huntington's disease (HD) is a late onset, genetic disorder that is incurable and undetectable until the onset of symptoms. A marker for the gene that causes HD was recently discovered which will lead to a predictive test. The purpose of this research was to assess the knowledge, attitudes, beliefs, and behavioral intentions concerning the impending predictive test by those at risk for HD. Results indicated that a majority of participants favored using the test presymptomatically and would encourage their adult children to use it as well. Fewer participants favored using the predictive test prenatally or on minors. Characteristics that best differentiated those who intend and do not intend to use predictive testing were identified and discussed. Suggestions for interventions were presented with an emphasis on outreach and prevention programs designed to prepare HD families for the difficult decisions the predictive test will precipitate and the subsequent impact of those decisions.     

Personal identity and bioethics: the state of the art

In this introduction to the special issue of Theoretical Medicine and Bioethics on the topic of personal identity and bioethics, I provide a background for the topic and then discuss the contributions in the special issue by Eric Olson, Marya Schechtman, Tim Campbell and Jeff McMahan, James Delaney and David Hershenov, and David DeGrazia.     

A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm

The implications of predictive DNA-testing for Huntington's Disease (HD) for the transitions in the family life cycle are described. HD is a hereditary disorder leading to personality changes, uncontrollable movements, cognitive impairment, and ultimately death in mostly adults. People at risk have the possibility to detect whether or not they carry the disease provoking-gene, but no treatment is available. In this article, we will highlight the complex implications of pre-symptomatic testing by describing six different cases, interpreted by following the theoretical framework of Carter and McGoldrick (see pp. 684). HD interferes strongly with the "normal" transitions in the life cycle. It is not so much the test result itself that may be disrupting, but the changed expectations and possibilities for the future. As a family disease, HD forces its members to cope, one way or another, with disturbing events and untimely deaths. Some families are able to make some transitions, while becoming blocked at other transition points; this may differ between families. Being able to cope with HD in the family for a certain time does not necessarily imply that problems will never occur. Because any family member may eventually need help, it is important to then help the family discover what hinders them from making the transition to the next life stage, and to resolve these issues so that they can move on.     

Predictive genetic testing for conditions that present in childhood

There is a general consensus in the medical and medical ethics communities against predictive genetic testing of children for late onset conditions, but minimal consideration is given to predictive testing of asymptomatic children for disorders that present later in childhood when presymptomatic treatment cannot influence the course of the disease. In this paper, I examine the question of whether it is ethical to perform predictive testing and screening of newborns and young children for conditions that present later in childhood. I consider the risks and benefits of (1) predictive testing of children from high-risk families; (2) predictive population screening for conditions that are untreatable; and (3) predictive population screening for conditions in which the efficacy of presymptomatic treatment is equivocal. I conclude in favor of parental discretion for predictive genetic testing, but against state-sponsored predictive screening for conditions that do not fulfill public health screening criteria.     

Still Better Never to Have Been: A Reply to (More of) My Critics

In Better Never to Have Been: The Harm of Coming into Existence, I argued that coming into existence is always a harm and that procreation is wrong. In this paper, I respond to those of my critics to whom I have not previously responded. More specifically, I engage the objections of Tim Bayne, Ben Bradley, Campbell Brown, David DeGrazia, Elizabeth Harman, Chris Kaposy, Joseph Packer and Saul Smilansky.     

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.     

Psychodynamic Theory and Counseling in Predictive Testing for Huntington’s Disease

This paper revisits psychodynamic theory, which can be applied in predictive testing counseling for Huntington’s Disease (HD). Psychodynamic theory has developed from the work of Freud and places importance on early parent–child experiences. The nature of these relationships, or attachments are reflected in adult expectations and relationships. Two significant concepts, identification and fear of abandonment, have been developed and expounded by the psychodynamic theorist, Melanie Klein. The processes of identification and fear of abandonment can become evident in predictive testing counseling and are colored by the client’s experience of growing up with a parent affected by Huntington’s Disease. In reflecting on family-of-origin experiences, clients can also express implied expectations of the future, and future relationships. Case examples are given to illustrate the dynamic processes of identification and fear of abandonment which may present in the clinical setting. Counselor recognition of these processes can illuminate and inform counseling practice.     

Observing the preservation and decline of abilities in dementias

The Brief Cognitive Rating Scale facilitated observation of the preservation and decline of abilities due to dementias among 73 female and 52 male residents at nursing homes in a northeastern and southwestern state. They ranged in age from 41 to 102 years (M=78, SD = 10.5). Dementia diagnoses included presenile Alzheimers, senile Alzheimers, Vascular Dementia, Dementia secondary to Huntington's Disease, Dementia due to Pick's Disease, and Korsakoff Dementia secondary to chronic alcoholism. Their ratings on tasks of the scale were submitted to an order analysis procedure to explore the order of decline and preservation of abilities. Results for these nursing home residents show an apparent order: loss singly or concurrently of the abilities of concentration and recent memory, followed by past memory and functioning and self-care that also appeared to be unpredictably lost or preserved singly or concurrently by different individuals, and, finally, by orientation that was preserved in 82% of the subjects.     

Why All Banding Procedures in Personnel Selection Are Logically Flawed

In this article, I first demonstrate that statistical significance testing of differ- ences between predictor scores (whether based on the standard error of mea- surement or any other statistic) is irrelevant to, and inconsistent with, the traditional, optimizing selection model. Second, I demonstrate that all band- ing procedures used in (or advocated for) personnel selection, including the sliding-band procedures advocated by Cascio, Outtz, Zedeck, and Goldstein (1991-this issue), are fatally flawed logically. I show that, when the number of applicants is large, all banding procedures logically lead to the absurd con- clusion that the only justifiable form of selection is random selection. Third, I present evidence that the empirical data set used by Cascio et al. to evaluate differmt selection strategies is anomalous and leads to results very different from those to be expected in typical and representative data. Specifically, the effect is to produce misleadingly small differences between the strategies in mean test scores of selectees and, therefore, in selection utility. In particular, selection utility losses from all forms of banding, in comparison to topdown selection, are understated. Finally, I show that, apart from the lethal logical flaw in banding procedures, Cascio et al. misinterpreted the meaning and na- ture of statistical significance testing.     

Why All Banding Procedures in Personnel Selection Are Logically Flawed

In this article, I first demonstrate that statistical significance testing of differ- ences between predictor scores (whether based on the standard error of mea- surement or any other statistic) is irrelevant to, and inconsistent with, the traditional, optimizing selection model. Second, I demonstrate that all band- ing procedures used in (or advocated for) personnel selection, including the sliding-band procedures advocated by Cascio, Outtz, Zedeck, and Goldstein (1991-this issue), are fatally flawed logically. I show that, when the number of applicants is large, all banding procedures logically lead to the absurd con- clusion that the only justifiable form of selection is random selection. Third, I present evidence that the empirical data set used by Cascio et al. to evaluate different selection strategies is anomalous and leads to results very different from those to be expected in typical and representative data. Specifically, the effect is to produce misleadingly small differences between the strategies in mean test scores of selectees and, therefore, in selection utility. In particular, selection utility losses from all forms of banding, in comparison to top-down selection, are understated. Finally, I show that, apart from the lethal logical flaw in banding procedures, Cascio et al. misinterpreted the meaning and na- ture of statistical significance testing.     

The Impact of Test Outcome Certainty on Interest in Genetic Testing Among College Women

Osteoporosis and hemochromatosis are both late-onset preventable diseases, but future genetic tests for these conditions are likely to differ in their predictive abilities. To determine whether interest in a specific genetic test for hemochromatosis would be higher than interest in a theoretical test for osteoporosis susceptibility, undergraduate women at the University of Cincinnati (N = 181) were surveyed regarding their interest in genetic testing for these conditions. The clinical features of the diseases and the limits of a genetic test for each were described. Sixty-three percent of the total population was interested in genetic testing with a trend toward higher interest in the osteoporosis group. Disease familiarity, perceived disease severity, and perceived risk for disease appear to be more important predictors of genetic test acceptance than diagnostic specificity. Suggested implications for the development of population genetic screening tests are discussed.     

Ethical issues in genetic counseling: A comparison of M.S. counselor and medical geneticist perspectives

New technologies available in the field of medical genetics have increased the importance of responsible ethical decision-making among genetic counselors. A 1985 national survey of M.D. and Ph.D. genetic counselors assessed ethical attitudes using case scenarios designed to simulate dilemmas faced in genetic counseling (Wertz and Fletcher, 1988b). The current study focuses on attitudes of M.S. genetic counselors using similar scenarios, allowing for effective comparisons. M.S. counselors were more willing than M.D. and Ph.D. counselors to maintain patient confidentiality when screening for Huntington's Disease and occupational diseases, and a greater number would agree to counsel patients pursuing prenatal testing for sex selection. A majority of M.S. counselors would disclose an XY karyotype to a phenotypically female patient. M.S. counselors reasoned that respect for patient autonomy and patient confidentiality justified their decisions in many cases. The importance of these principles is discussed and questioned.     

Experiences of Women Who Underwent Predictive BRCA 1/2 Mutation Testing Before the Age of 30

This qualitative interview study focuses on the experiences of a sample of British female BRCA 1/2 carriers who had predictive testing before the age of 30, which is the minimum age for breast screening in the UK. Following appropriate informed consent procedures participants were recruited through the Cancer Genetics Service for Wales. Semi-structured interviews were conducted face-to-face with seven participants, transcribed in full and analyzed using thematic analysis. The motives for testing and perceived advantages described by participants were similar to those identified in previous studies with older participants, such as increased awareness and knowledge and feeling more in control. However some of the perceived disadvantages were specific to younger women, including feeling pressured to make important life decisions earlier than they would have liked, such as about family planning and risk reducing surgery. Participants also reported feeling abandoned or forgotten because of lack of ongoing clinical contact, or feeling “stuck waiting” for screening to begin. However, none felt that these disadvantages were a reason to regret having testing. Findings in this small study suggest that having BRCA 1/2 predictive testing can have positive outcomes for young women even though they may be unable to access interventions such as breast screening. However it may be helpful to encourage young women during pre-test counseling to explore the decisions and choices they may face. These young women could benefit from ongoing support and follow up and increased interaction with healthcare professionals.     

CT scan and neuropsychological correlates of Alzheimer's disease and Huntington's disease

"Cortical" and "subcortical" dementia syndromes differ in areas of primary neuropathology and clinical characteristics. Conventional CT scan interpretation, visual inspection of pictures, has not been useful in studying dementia. Recent studies of the digitally stored CT attenuation values have found systematic variations with normal aging and aphasia subtypes. In this study of numerical CT scan information in four Alzheimer's Disease and two Huntington's Disease patients, a double dissociation of frontal and temporal lobe density values was found, and a significant correlation was found between left temporal lobe density and verbal ability measures in the Alzheimer's Disease patients.     

Enhancing accuracy in observational test scoring: the comprehensive system as a case example

Inaccuracies in administration and scoring can potentially compromise the validity of any standardized psychosocial measure. The threat is particularly pertinent to methods involving behavioral observation, a category that includes many intelligence tests, neuropsychological measures, personality assessment instruments, and diagnostic procedures. Despite evidence and conjecture that errors in testing procedure are common for at least some of these measures and that these errors are often severe enough to influence interpretation, the topic has received relatively little attention. In particular, the absence of any safeguard against inaccurate test use in clinical situations can put the respondent at risk and violates ethical standards for the use of tests. In this article, I review some issues surrounding accuracy in testing procedures, including a discussion of what is known about the problem, an evaluation of several approaches to improving testing practices, and a review of recommendations for the statistical evaluation of rater accuracy. In this article, I use the Rorschach Comprehensive System (Exner, 1993) to demonstrate the concepts discussed.