GENEWATCH
 
TOWARD INCLUSIVE GENOMICS
By Joon-Ho Yu, Wylie Burke
 

Finding the right way to return results to genomic research participants from minority groups could be an opportunity to redefine the participant-researcher relationship.

 

Twenty years after the inauguration of the Human Genome Project, we have the ability to sequence a person's entire genome both rapidly and at diminishing cost. As a result, it is now feasible to sequence the genomes of hundreds or thousands of research participants in a single study. This research offers an unprecedented opportunity to advance our understanding of the genetic contributors to human health, potentially informing improvements in prevention, disease management and drug discovery. But in order to ensure broad benefit, researchers need to solve a persistent problem: the underrepresentation of minority populations in the research process. Without better minority representation, genetic studies may fail to reveal the full extent of human genetic variation, and as a result may ultimately offer fewer benefits to minority patients, exacerbating disparities.

Addressing this problem will require recruitment strategies and study procedures that take into account the perspectives and concerns of potential minority participants. In the case of studies involving whole genome sequencing, the issue of whether and how to share the emerging genetic information with research participants may prove to be among the most significant. This issue arises because of the broad scope of sequencing technology. Most genomic studies are focused on a particular question, such as the search for the genetic contributors to a particular disease; but with the capacity to sequence the whole genome comes the ability to identify nearly all genetic abnormalities present in a particular individual. The researcher is faced with the dilemma of how extensively to search for abnormalities unrelated to the study and what information to return to participants. If fully analyzed, the whole genome sequence will generate anywhere from a handful to dozens of clinically meaningful results per individual. These results may be completely unexpected or incidental to the main reason for the research study and will vary widely in their potential impact, ranging from information about moderately elevated risks for common diseases to rare but dramatic risks for inherited disease.

People from underrepresented minority groups often have an understandable mistrust of medicine and research. The recently publicized Henrietta Lacks story, demonstrating how tissues from a poor black woman were taken for research without her consent or even knowledge, resonate with other research experiences of minority communities. Studies have been undertaken with little attention to the interests or needs of the communities who provided the samples. They have sometimes involved deceit, as in the case of samples taken from the Havasupai Tribe without full disclosure of the intended research, or even explicit harm, as in the shameful example of the U.S. Public Health study of syphilis. This history fuels a general mistrust of biomedical research and a specific expectation that research will not be done for the benefit of minority peoples.  The question before us is: How does the prospect of returning whole genome results fare in this context?  What does parity mean in the context of receiving results?

Genomic studies focused on understanding disease biology offer more promise for minority communities if those communities are part of the research process.  Genomic studies, therefore, represent an important opportunity to build trust and reestablish, perhaps even redefine, the participant-researcher relationship.  Offering results could play an important part in this process because tangible health benefits such as new drugs or procedures will take time.  In the interim, offering participants the chance to receive clinically meaningful results may be viewed both as a prospect for personal and familial benefit, and as an avenue to demonstrate respect, two core elements in the creation of a reciprocal research partnership.

If reciprocity suggests that results ought to be offered, the practice of transparency and respect suggest how results might be chosen for return and what procedures might be most appropriate. Many results from whole genome sequencing are currently of uncertain clinical value, and uncertainty is likely to be greater for people of racial and ethnic minorities because most studies of genetic variation to date have been limited to populations of European descent. However, every whole genome sequence will provide some results with clear clinical meaning. For example, the presence of mutations well documented to be associated with colon, breast or ovarian cancer risk, if present, point to the need for earlier or more intensive cancer screening. Even among this type of result, however, the risk implications may vary, with some gene variants indicating high risk and others only small increases above average risk. Further, not all clinically meaningful results can be addressed with prevention or treatment.

A partnership-based approach to returning results would seek to involve participants in decisions about what results to return, and how, especially among clinically meaningful results. Methods for offering results perhaps should vary. Family relationships may span great distances within recent refugee and immigrant communities, and honoring reciprocity may mean giving due consideration to the range of family structures present in these communities. Personal circumstances and cultural expectations may influence how different people respond to the offer of results. In addition, partnership-based dialogue may lead to the return of aggregate study results in accessible formats or even greater dissemination of scientific or health information, either in lieu of or in addition to individual results. These considerations point to the need for empirical research to understand attitudes among diverse communities toward receiving research results and to devise strategies that respect and support personal and family preferences. Just as the meaning of sequencing results may change over time due to a changing base of genetic knowledge and changing priorities at different points in life, participant-researcher relationships will need to evolve into long term conversations. Nowhere is this more important than in the context of research relationships with underserved minorities.

Returning results in the context of a partnership-based approach may do more than increase minority participation in genomic research. It provides an opportunity to engage minority communities in discussions about the purpose of genomic research, the potential for long term benefits, and the methods researchers use to ensure that research procedures are trustworthy. Understanding participants' views about how and why results should be offered will also provide the groundwork for making best use of  genomic technology in clinical settings. 

 

Joon-Ho Yu, MPH, PhD, is a Senior Postdoctoral Fellow in the Department of Pediatrics, Division of Genetic Medicine at the University of Washington.  His research focuses on the intersection of genetics and racial and ethnic minority communities.

Wylie Burke, MD, PhD, is Professor and Chair of the Department of Bioethics and Humanities at the University of Washington and Principal Investigator of the University of Washington Center for Genomics and Healthcare Equality. Her research addresses the social, ethical and policy implications of genetic information.

 
 
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