Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders.

The purpose of this qualitative study was to describe the psychosocial impact and coping processes of normal (negative) results from predictive testing for an inherited neurodegenerative disease. Ten adults with normal results of predictive testing for the Huntington disease (HD) or the Pallido-Ponto-Nigral Degeneration (PPND) gene mutation participated in semi-structured interviews 1 month after receiving results, and seven of these participants were interviewed 6 months later. The major theme of Redefinition was derived using Knafl and Webster's analysis method (1988). People who received normal gene results experienced loss of former beliefs about themselves and developed new self definitions, relationships with family, and roles in society. This coping process evolved from a personal focus at 1 month to a broader future perspective at 6 months after testing. Identifying components of the redefinition process may be an important consideration in planning interventions to promote coping with normal gene results in persons within at-risk families.

Psychosocial impact of predictive testing for Huntington disease on support persons.

Although a support person is required by many centers during the predictive testing protocol for Huntington disease (HD), little is known about the psychosocial impact of predictive testing on persons serving in this role. Eighteen adults who were support persons during predictive HD testing in one HD testing center completed a semi-structured interview to describe their experiences. Participants also completed the Impact of Events Scale (IES) to assess perceptions of emotional distress regarding predictive testing and the State Anxiety Scale of the State Trait Anxiety Inventory (STAI) to assess anxiety regarding the interview. State anxiety scores were similar to normative values for working adults. Although support persons for individuals with a positive gene test scored higher on all measures of the IES than those who were support persons for persons with negative gene mutation results, these differences were not statistically significant. Support persons identified aspects of the protocol that did not fit their needs, perceived the testing process as extending into subsequent caregiving responsibilities when the test was positive, and were uninformed regarding specific caregiving issues for family members with the gene mutation. The impact of the testing experience appeared to be most intense for those support persons who were at-risk offspring of probands. Findings suggest that individual assessment of support person needs may allow more focused counseling of support persons during predictive genetic HD testing. Collaboration with health care providers may facilitate symptom management following testing.

Genetic testing and mental health: the model of Huntington disease.

Genetic aspects of mental health disorders are being identified through human genome and family research. Gene discovery makes diagnostic and presymptomatic testing possible. The discovery of a gene mutation for Huntington Disease (HD) enables at-risk persons to request presymptomatic genetic testing. When HD genetic testing is offered through HD testing centers, a multi-visit protocol is followed in which education and counseling are provided for persons considering the option to have HD gene testing. A case study illustrates the clinical and ethical issues regarding privacy and disclosure as well as the personal and family consequences of gene mutation knowledge. Analysis of the impact of genetic knowledge on persons being tested for HD provides a model for the integration of emerging genetic information into mental health nursing practice for other mental health disorders.

Adults seeking presymptomatic gene testing for Huntington disease.

PURPOSE: To describe the expectations of those seeking presymptomatic gene testing for Huntington disease (HD). Identification of the gene for HD makes it possible to conduct testing to determine if a healthy person with a family history of HD has a mutation in this gene. Presymptomatic gene testing reveals the likelihood that a person will develop an inherited disease in the future. Understanding expectations allows for more complete assessment and counseling before presymptomatic gene testing for genetic diseases. DESIGN: Descriptive qualitative. The population was people with a family history of HD. The sample was 17 asymptomatic adults with a positive family history of HD who requested presymptomatic gene identification at one tertiary genetic counseling program, 1995 to 1996. METHODS: Semi-structured interviews concerning expectations of adults seeking presymptomatic genetic testing were conducted by telephone. Interviews occurred after the individuals had requested presymptomatic gene identification but before results were reported. Content analysis was used to identify the expectations and questions of those who had decided to seek presymptomatic testing. FINDINGS: Common expectations included anticipating relief from uncertainty, hoping to plan for their future health care and life decisions, wanting to know if their children were at risk of developing HD, anticipating loss of family support from relatives, expecting relief from self monitoring, venturing into the unknown, and planning for disclosure. Participants attempted to avoid their loss of genetic privacy by withholding the decision to seek testing from their primary care providers. CONCLUSIONS: Participants seeking presymptomatic HD gene testing consider the effect of gene identification on themselves and their families. A desire to limit insurance or employment discrimination contributes to subjects not seeking input from health care providers in their decision making.

The impact of Alzheimer disease genetics on expert and advanced gerontological nursing practice.

Alzheimer disease (AD), a progressive neurodegenerative disorder, is the most common cause of dementia in the United States, affecting as many as 4 million people. Extensive research is under way to identify environmental and genetic risk factors for this complex disease. Currently, four genes are associated with an increased risk for AD: the amyloid precursor protein gene on chromosome 21, the Presenilin I gene on chromosome 14, the Presenilin II gene on chromosome 1, and the apolipoprotein E gene on chromosome 19. Expert and advanced practice gerontological nurses are faced with new challenges as a result of these gene discoveries. Gerontological nurses should assess for relevant environmental and genetic risk factors; obtain comprehensive family health histories recorded as pedigrees; integrate genetic information into diagnosis, intervention, and evaluation strategies; initiate and coordinate referrals to genetic specialists; and provide ongoing emotional and decision-making support for patients and families experiencing AD.

Genetic testing in Alzheimer's disease. Benefits risks and public policy.

1. Genetic research is providing new information about the structure and function of genes associated with diseases such as Alzheimer's disease. 2. The ability to perform genetic tests to diagnose or predict disease often exists before the ability to prevent or treat disease. 3. Genetic tests are associated with both benefits and risks, which likely will apply to the Alzheimer's disease population. 4. Safe and effective tests, laboratories of assured quality, competent providers, assured privacy of genetic information, and informed consumers are important prerequisites to the successful integration of genetic tests into health care services.

Benefits and burdens of genetic carrier identification.

This qualitative study examined experiences of adults requesting genetic-carrier testing for four autosomal-recessive and X-linked-recessive disorders. The sample consisted of 34 adults with a positive family history or membership in an ethnic group at risk for the inherited disorder. A semistructured interview guide was used to collect data during an interview 1 month after receipt of test results. Noncarriers experienced benefits of emotional relief and freedom to move ahead with reproductive planning. Carriers experienced burdens of sadness and loss of reproductive expectations. Some subjects in both groups experienced difficulty disclosing results to selected family members and expressed concerns regarding disclosure of testing to insurance providers.

Developing family-focused care.

Critical care nurses have a responsibility to provide care from a family-systems perspective in which illness is not an isolated, time-limited event, but instead a highly stressful situation that evolves from the family's history and contributes dynamically toward its future. This article discusses nurse-family relationships, strategies to promote family-focused care, and mechanisms to make family-focused care a reality.