Anthropology, Genetic Diversity, and Ethics 
A workshop at the Center for Twentieth Century Studies 
University of Wisconsin-Milwaukee  
Charmaine Royal*
[Participant Information]

My focus is on the involvement of African-Americans in human genetics research. I chose to talk about human genetics research, as opposed to focusing on genetic diversity research, because in my opinion, human genetics incorporates mapping and sequencing the genome, looking at sequence variation, etc.  I think the issues for African-Americans, and other non-white groups overlap in all phases of genetics research.  Therefore, much of what I say applies not only to African-Americans, but to other non-white groups as well. 

I'm going to start out by laying the framework on which to build my discussion.  Iím sure everybody's familiar with much of what Iím going to say here, so Iíll briefly go through, just to make the connection in terms of what genetics research may mean for African-Americans.  When we talk about the low level of participation of African Americans in biomedical research, the Tuskegee Study is usually cited as the source of the mistrust and skepticism that pervade the African American community today.  However, during the 1800s brutal experiments were performed on enslaved Africans, and as late as the 1920ís African American were afraid to go into hospitals, for fear of being experimented on.  It is clear therefore, that the Tuskegee Study only served to intensify the already existing mistrust, among African Americans, of biomedical research and the healthcare system.  I hasten to remind everyone that episodes of medical experimentation, as well as the very enslavement of Africans, are attributable to the perception that African Americans are inferior, a notion which has historically been perpetuated by genetic research.  My discussion of issues related to African American participation in the current wave of genetic research will emanate from two major questions: 1) Will genetic research continue to be used as a tool to perpetuate racism and its devastating outcomes? 2) Will African Americans partake of the benefits of improved health that may be possible by genetic research? 

The current debate regarding genetic discrimination and stigmatization of groups is certainly, as previously indicated, not new to the African American community. As geneticists, anthropologists, etc. we often say (or have heard it said) that 94 PERCENT of DNA variation occurs within groups; and that the DNA of two unrelated, same-sex individuals, regardless of ethnicity, is 99.5 PERCENT identical, so thereís no biologic basis for race.  Nonetheless, the reality is that racism exists, and I am not very optimistic that there will come a day when individuals will act as though race has no biologic significance, and African Americans and other non-white groups will be treated as equals.  With the publishing of The Bell Curve, and researchers looking for genetic factors related to violence and crime, genetic research indeed ocntinues to raise red flags for many African Americans.  The concerns relate not only to the racial implications, but also to the feeling that such genetic reductionism will result in more attention being placed on social problems.  The experience of African Americans with sickle cell disease is the notable example of genetic discrimination and stigmatization related to a disease state in this population.  The events regarding sickle cell screening in the 1970ís have left and indelible mark on the minds and lives of many, and have undoubtedly increased concern about the impact of genetic testing and screening on African Americans today. 

Unlike other more genetically homogeneous populations, African Americans have not yet needed to be very concerned about being targeted for gene mapping/genomic research.  Many African Americans, on the other hand, are concerned about the community being left out of the research, and as with biomedical research in general, being at risk for losing out on the potential benefits.  In addition, many strongly advocate inclusion because of our population theory and the very heterogeneity which has previously rendered us less than prime for this research.  Evidence indicates that the involvement of African Americans in the implementation of biomedical research is critical to the establishment of trust, facilitating the enrollment of African Americans into research protocols.  I am referring not only to community consultation and our involvement in conversations about the research, but also to our inclusion as researchers.  The involvement of African Americans at all levels in genetic research protocols has also been suggested as a means of ensuring that the research agendas correlate with the priorities of the African American community, thereby increasing the likelihood of benefit and reducing harm to the population.  Unfortunately, this strategy has worked against us in the past, enabling the Public Health Service to recruit 400 African American men for the Tuskegee Study.  Hopefully, however, such blatant and deliberate violation of trust and human rights will continue to be the exception, rather than the rule. 

 I will now describe an ongoing genetic study, which attempts to incorporate many of the elements considered essential in the conduct of genetic research in African Americans.  A couple of years ago, Johns Hopkins University and the National Human Genome Research Institute (NHGRI) conducted a genome-wide search for genes involved in prostate cancer and found linkage to chromosome 1q24-25 (HPC1).  There were 91 families in that study and the two participating African American families showed linkage to HPC1.  In light of the disproportionately high incidents and mortality of prostate cancer in African American men, Howard University and the NGHRI organized the African American Hereditary Prostate Cancer (AAHPC) Study Network to confirm whether chromosome 1q24-25 is likely to contain a prostate cancer susceptibility gene in African Americans, and to conduct a genome-wide search for other loci associated with HPC in African American men.  The Network comprises a multidisciplinary group of geneticists, urologists, epidemiologists, statisticians, nurses, etc. from Howard University, the NGHRI, and Collaborative Recruitment Centers in seven urban areas throughout the United States.  The AAHPC Study is the first large-scale genetic study of African Americans conducted almost entirely by African Americans.  The success of this study remains to be seen, but thus far, in spite of the difficulties encountered, the involvement of African Americans in the design and implementation of the study is having a positive impact on the recruitment process.  Awareness of and sensitivity to African American history and culture have, thus far, been critical to the study, and will become even more important as genes are identified.  Realizing the impact of the input from African American scientists, clinicians, and other professionals in this study, it is clear to me that training for individuals in other non-white groups with lower numbers of researchers and health professionals should become a priority, particularly as we move forward with genetic diversity research. 

My next point is a reiteration of what others have already discussed regarding the importance of educating the community prior to conducting genetic research.  Individuals and groups should be adequately informed about the purpose and relevance of the research, as well as the procedures, benefits, risks, and limitations.  Only through education and complete disclosure can individuals and communities provide "informed consent.Ē 

A major concern pertaining to the participation of African Americans and other non-white or socio-economically disadvantaged groups in genetic research is access to genetic services.  Considering that there are only about 2,000 genetic counselors in the country, many individuals from these groups may live in areas where there may not be genetic counselors, geneticists, or genetic services in close proximity.  As such, many may not even be inclined to participate in genetic research, since even if there are benefits to be claimed, they may not be available to them, or more importantly, may not be affordable.  For those individuals, and indeed, for those that do participate in genetic research, there needs to be a concerted effort to educate primary care providers about genetics, as well as improve the availability and affordability of culturally appropriate genetic services.  Only then will it be possible for all of society to benefit from the outcomes of genetic research. 

For various reasons, the goal of improving health through early detection, prevention, and particularly treatment of genetic disease may not be always be realized, or may take much longer than anticipated.  In 1949, sickle cell disease became the first disease to be characterized as a molecular disease, and the hemoglobin genes are perhaps the best understood of all mammalian genes.  Yet, it is just in the last couple of years that strides have been made in the development of effective treatments for sickle cell disease.  I do realize that there are scientific issues related to the delay, but evidence indicates that there are also issues of distributive justice and allocation of resources.  The questions of who decides whose disease gets researched, and what factors determine whose disease gets researched are critical in the consideration of genetic research for diseases that primarily affect non-white groups. 

It is paramount that researchers conducting genetic/genomic research African Americans and other non-white populations look at the big picture.  Our concern and involvement must include not only the ethically sound conduct of the research and appropriate use of the information generated, but also efforts to ensure, to the extent that we are able, that these groups actually benefit from the outcomes of the research. 

*This talk has been edited for web publishing by the author.