203964 Personalized, not “racialized” medicine: Substituting racial categories with genetic markers in clinical research

Sunday, November 8, 2009

Perry W. Payne, MD, JD, MPP , Department of Health Policy, The George Washington University School of Public Health and Health Services, Washington, DC
Robert Freishtat, MD/MPH , Center for Genetic Medicine Research, Children's National Medical Center/ George Washington University, Washington, DC
Funda Suer, PhD , Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC
Joseph Devaney, PhD , Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC
Karuna Panchapakesan, MS , Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC
Stephen Teach, MD, MPH , Division of Emergency Medicine, Children's National Medical Center, Washington, DC
Eric Hoffman, PhD , Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC
The promise of personalized medicine to prevent adverse drug reactions depends on accurate methods of identifying individuals who require genetic testing. A recent FDA drug label for carbamazepine uses ancestry to accomplish this goal. The label uses Asian ancestry as a means of identifying who is most likely to need a genetic test. This approach creates a number of bioethical/policy problems. This research project assesses a possible solution to these problems: utilizing genetic markers to characterize the diversity of individuals. Ten markers, identified in an extensive literature review, were genotyped in self-identified African American children participating in an asthma gene-environment study. Simpson's index of diversity (D) was calculated for all markers and chi-square tests were performed to determine if markers linked to African populations were able to characterize all self-identified African Americans. The results demonstrate that there are ancestral similarities and differences among research participants which are not captured by their racial category. For cases, D ranged from .39 to .92 and for controls, D ranged from .35 to .75 indicating diversity in both groups for most markers. Chi square tests demonstrated that a significant difference existed between the expected frequencies and the observed frequencies indicating that self-identified African Americans cannot be characterized solely by markers linked to African populations. In conclusion, a selected group of ancestry informative markers offers a better approach for assessing diversity among research participants than racial/ancestral categories and offers a safe, effective way of identifying who can benefit from personalized medicine.

Learning Objectives:
Define the ethical and health policy problems associated with using race as a method of personalizing medicine. Differentiate between the use of genetic markers versus the use of racial categories to describe the diversity of research participants. Describe a strategy for incorporating genetic markers into clinical research in order to personalize medicine for diverse populations.

Keywords: Genetics, Prevention

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: I conducted the research being written about utilizing my experience conducting research from high school to now on a variety of topics related to genetics. I've also published three articles that are related to this topic.
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.