Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force.

To help advance research critical to the achievement of the National Society of Genetic Counselors' (NSGC) strategic objectives, coordination and prioritization of society resources are needed. NSGC convened a task force to advance research necessary for the achievement of our strategic objectives by reviewing existing society-supported research efforts identifying gaps in current research, and coordinating society resources, the task force was formed in order to coordinate and prioritize society resources to advance research critical to the achievement of our strategic objectives. The task force developed a research agenda outlining high-priority research questions for the next 5 years. The questions are organized into four domains: (a) Genetic Counseling Clients; (b) Genetic Counseling Process and Outcomes; (c) Value of Genetic Counseling Services; and (d) Access to Genetic Counseling Services. This framework can be used to advocate for research and funding priorities within NSGC and with other key research entities to stimulate the growth and advancement of the genetic counseling profession.

Genetic susceptibility testing for Alzheimer disease: motivation to obtain information and control as precursors to coping with increased risk.

OBJECTIVE: This study investigated appraisals, including motivation, and coping preferences for undergoing Apolipoprotein E (APOE) susceptibility testing for Alzheimer disease (AD). METHODS: Participants were 60 adult children of individuals affected with AD enrolled in a trial investigating use and impact of APOE susceptibility testing. An exploratory qualitative study was undertaken in which participants were interviewed about their testing experience. RESULTS: Most participants viewed genetic testing as providing valuable information that could help direct future health care decisions and meet their emotional concerns about living at increased risk. Participants related their motivation for genetic testing to their worries about developing AD, preference to seek information about health threats, and need to feel in control of their health. CONCLUSION: Even without prevention or treatment options, genetic testing may be a useful coping strategy for some at-risk individuals. PRACTICE IMPLICATIONS: Once testing becomes clinically available, practitioners need to address the value and limitations of testing as well as appraisals and efforts to cope.

Genetic susceptibility testing versus family history-based risk assessment: Impact on perceived risk of Alzheimer disease.

PURPOSE: We examined how an Alzheimer disease (AD) family history assessment as compared to a risk assessment incorporating the absence of a disease-associated susceptibility allele affected risk perception among adult children with a family history of AD. METHODS: The REVEAL study is a clinical trial in which adult children of patients with AD were randomized to receive a risk assessment based upon family history alone or family history plus apolipoprotein E (APOE) disclosure. In this analysis, two subsets of women were identified, each of whom received identical 29% lifetime risk estimates of developing AD. One group received a risk estimate that incorporated APOE epsilon4-negative genetic test results (Genotype Group, n = 30), whereas the other received a risk estimate based on family history and gender (Family History Group, n = 36). Six weeks after risk disclosure, we surveyed participants regarding the impact of the risk assessment on their perceptions of AD risk. RESULTS: 73% of the Genotype Group judged their risk to be lower compared to 25% of the Family History Group (P < 0.0001). 67% of the Genotype Group reported lower anxiety about AD, versus 26% of the Family History Group (P < 0.01). 80% of the Genotype Group indicated that the risk information had a positive impact, versus 36% of the Family History Group (P < 0.001). The Genotype Group was less likely to believe that they would develop AD (13% vs. 36%, P < 0.05) and was more likely to report that the risk assessment removed uncertainty about their chances of developing AD (63% vs. 9%, P < 0.0001). CONCLUSIONS: These data suggest that risk estimates incorporating negative genetic test results affect perceptions of disease susceptibility more strongly than identical estimates based on family history alone.