Brave New World: Do We Really Want to Know All This? Ethical and Social Impacts of Genomic Research in Nephrology audioicon

The rapid identification of genetic risk factors for common diseases allows for susceptibility testing of at-risk populations, but many questions remain about whether and how best to implement such programs. How should we communicate this ambiguous information? How will patients and families respond, both in terms of psychological distress and health behavior change? What are the broader ethical and policy issues raised by the increased availability of genetic testing in medical and consumer genomics formats?

To help address these questions, the author will draw upon his work over the last decade as part of the NIH-funded Risk Evaluation and Education for Alzheimer’s disease (REVEAL) Study. The REVEAL Study is a series of three multi-site randomized clinical trials (N ~ 720) that have examined different methods for providing genetic risk information for Alzheimer’s disease (AD) to asymptomatic individuals. The ?4 allele of the Apolipoprotein E (APOE) gene increases AD risk but is neither necessary nor sufficient to cause the disease. APOE disclosure serves as an instructive paradigm for examining the benefits and risks of communicating personalized genetic information.

Study outcomes include 1) psychological adjustment to risk information, 2) behavior changes following testing, 3) comprehension of test results, and 4) impact across various genetic counseling methods (e.g., extended vs. condensed vs. telephone protocols). Findings include:

  • Participants sought testing for reasons of personal (vs. clinical) utility, such as financial planning and a sense that “knowledge is power”
  • Participants did not generally experience adverse psychological outcomes following testing, even when they received ?4 results
  • Participants generally understood that “genetics is not destiny,” but their risk perceptions suggested an overrating of “negative” test results
  • Genetic risk information prompted behavioral responses among higher risk groups, including long-term care insurance changes and addition of dietary supplements not proven to reduce disease risk

The study’s implications for practice and policy will be discussed, including how findings inform debates over the benefits and harms of genetic susceptibility testing for other common diseases including those in nephrology.

Acknowledgements: Dr. Roberts is presenting on behalf of the REVEAL Study Group (Robert C. Green, PI). The study is funded by the National Human Genome Research Institute (HG02213).

This was presented at the ISN Forefronts Symposium event “Systems Biology and the Kidney” that took place from 7-10 June 2012 in AnnArbor , Michigan, US.

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Last modified on Saturday, 22 March 2014 20:28

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