Understanding the Relationships between Race, Ethnicity, Ancestry and Genomics

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This project examines patients and health professionals understanding of the relationships between race, ethnicity and genetics. The project utilizes three broad approaches to address these issues: (1) the development of a scale to assess health professionals understanding of race, ethnicity and genetics; and (2) the collection of qualitative and quantitative data to understand the lay public and health professionals current beliefs, use and knowledge of the relationships between race, ethnicity, ancestry, identity and genetics; and (3) the development of a theoretical framework for science policy and medical education on race, ethnicity, ancestry and genetics. For Aim 1, three empirical sub-projects were conducted and have informed the development of a conceptual framework we are using to guide development of the Human Genetic Variation and Beliefs Scale. Two of these projects used data from the AAFP web-based survey of 1035 family physicians to analyze physicians views on race and genetics. As part of the survey, we randomized family physicians to see a hypothetical black or white female patient, age 36 who was seeking pre-conception counseling. We found that only 31% of all physicians would offer pre-conception genetic screening. Interestingly, physicians who saw a black patient were more likely to offer screening (35%) than physicians who saw the white patient (26%) (p<0.01). This suggests that in addition to other well-documented occurrences of clinicians use of heuristics or patient profiling in their clinical decision-making, they are likely to do the same with genetic testing (See Bonham VL, et al. Patient physician characteristics and primary care physician decision making in preconception genetic screening "Public Health Genomics" in press). We report in "Community Genetics",(2008;11(6):352-8)the results from the AAFP survey related to physicians attributions for health disparities. We found that when family physicians were presented with two scenarios for health disparities (one related to gender, and one for race/ethnicity), they were significantly more likely to attribute racial/ethnic differences in health outcomes to the environment than to gender differences (4.6 vs. 3.6 (p<.001). Physicians also rated race/ethnicity and gender as equally important in their clinical decision-making (4.4 and 4.6, respectively). We conclude in this article that while family physicians do not think racial and ethnic health disparities are genetically predetermined, they do have beliefs about how race and ethnicity influences their patients health. In the third sub-project of Aim 1, we conducted 22 interviews with multiracial patients to characterize their beliefs and knowledge about genetic variation and their experiences with race in their clinical encounters. We report in "Social Forces", (2007; 86 (2): 795-820) that the majority of participants felt that their race was commonly assumed to be black and they noted that this assumption was often transferred to their medical records. These projects are guiding my exploration of the factors within the conceptual framework. For Aim 2, we have completed 10 focus groups with self-identified black and white general internists. We report in "Genetics in Medicine", (2009; 11:279-286) that both black and white physicians believed that the race of a patient is medically relevant in clinical practice. Some physicians reported that it was important in providing insights into a patients culture while others stated that it informs their screening decisions (e.g. prostate-specific antigen). Physicians offered conflicting views on the degree of relevance and the specific role of race in clinical decision-making. They were reticent to make connections among race, genetics, and disease. Taken together, the above results of this program of research suggest that the use of race and genetics in clinical decision-making is not well understood. Based on this body of work, we have developed a preliminary version of the Human Genetic Variation Beliefs Scale (HGVB). With respect to Aim 3, we have conducted 32 cognitive interviews and held two expert advisory panels to provide guidance in scale refinement and web usability of the instrument. In 2009 we piloted the scale with a national random sample of 363 physicians to further test and refine the survey instrument. For Aim 4, we conducted in 2008-2009 a pilot qualitative sub-project of genetic researchers, exploring their use of population descriptors in human genetic research, including an experiment in which they have the opportunity to describe and group their study populations in a new way. We used qualitative methods to capture researchers opinions and practices as they think critically about the use of population labels including race and ethnicity in their studies. Understanding individual scientists opinions about the strengths and weaknesses of different classifications in various contexts will provide important data to help define and facilitate appropriate use of population descriptors in human genetic research. For Aim 5, we will explore the lay public views of identity, ancestry, race, ethnicity and genetics to integrate what we learn from health professionals with the lay public's knowledge and views. The objective of this aim is to inform the communication of genetic risk health messages and reporting of research findings.