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.     

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.     

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.     

Complex Genetic Disorders: Evaluating When Genetic Research Findings Are Applicable for Genetic Counseling Practice

Traditional genetic counseling processes and principles will be extended to a new realm—complex disorders. Although it may seem like a daunting task, understanding the methodologies used to study complex genetic disorders will enable genetic counselors to critically analyze research studies involving complex disorders. In this article, we explain newly evolving methodologies for genetic research, including case-control studies and transmission disequilibrium testing (TDT). Additionally, a framework is provided for evaluating original research findings and replication studies.     

Predictive Genetic Testing for Hereditary Breast and Ovarian Cancer: Psychological Distress and Illness Representations 1 Year Following Disclosure

This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest while general distress remained about the same. There were no significant changes in distress in the group of carriers except for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects of predictive testing when offered in the context of a multidisciplinary approach.     

Offering predictive testing for Huntington disease in a medical genetics clinic: Practical applications

Predictive testing for Huntington disease is presently offered in a select few medical genetics centers in the United States. This is in part due to the labor intensive counseling and psychological testing suggested by the research protocols. We discuss some specific suggestions for establishing programs for Huntington disease predictive testing within pre-existing medical genetics clinics to encourage more centers to offer presymptomatic testing. This will allow more at risk individuals the opportunity to consider predictive testing and cut down the expenses of traveling to the few predictive testing centers that currently exist. The counseling principals will remain similar to those discussed here, even following the identification of the Huntington disease mutation.     

Negotiating Responsibility: Case Studies of Reproductive Decision-Making and Prenatal Genetic Testing in Families Facing Huntington Disease

Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.     

Attitudes to Genetic Testing for Deafness: The Importance of Informed Choice

With recent progress in the identification of genes for deafness, it is highly likely that genetic testing, including pre-natal testing, for deafness will become more widely available. In a context where there are concerns about pre-natal testing, and where many in the Deaf community contest the understanding of deafness as a disability, it is important to examine the attitudes of Deaf/deaf people toward genetic testing. This qualitative study employed in-depth interviews to investigate the views about genetic testing for deafness of 19 participants, who were identified as functionally deaf or hearing impaired, or as belonging to the Deaf community. The key findings are that participants were generally supportive of genetic testing for deafness but only when full information about all relevant aspects of deafness is given to prospective users of genetics services. Participants emphasized informed choice, stating that information about medical and technological options for deaf people should be provided, together with information about communication, education, and the experience of being deaf. Although there was less support for pre-natal diagnosis and termination of pregnancy for deafness, most participants nonetheless felt that individual choice was important and that pre-natal diagnosis should be made available to those who wanted to use it.