Mixed Race Studies

Will Precision Medicine Move Us beyond Race?

The New England Journal of Medicine
2016-05-26 (Volume 374, Number 21)
DOI: 10.1056/NEJMp1511294

Vence L. Bonham, J.D., Senior Advisor to the NHGRI Director on Genomics and Health Disparities
National Human Genome Research Institute, Bethesda, Maryland

Shawneequa L. Callier, J.D., Professorial Lecturer in Law
Georgetown University, Washington, D.C.

Charmaine D. Royal, Ph.D., Associate Professor of African and African American Studies and Genome Sciences
Duke University, Durham, North Carolina

Although self-identified race may correlate with geographical ancestry, it does not predict an individual patient’s genotype or drug response. Precision medicine may eventually replace the use of race in treatment decisions, but several hurdles will have to be overcome.

Read or purchase the article here.

Changing the paradigm from ‘race’ to human genome variation

Nature Genetics
Volume 36, Number 11s (2004)
pages S5-S7
DOI: 10.1038/ng1454

Charmaine D. M. Royal, Associate Research Professor
Institute for Genome Sciences & Policy; Department of African and African American Studies
Duke University

Georgia M. Dunston, Founding Director, National Human Genome Center
Howard University

Knowledge from the Human Genome Project and research on human genome variation increasingly challenges the applicability of the term ‘race’ to human population groups, raising questions about the validity of inferences made about ‘race’ in the biomedical and scientific literature. Despite the acknowledged contradictions in contemporary science, population-based genetic variation is continually used to explain differences in health between ‘racial’ and ‘ethnic’ groups. In this commentary we posit that resolution of apparent paradoxes in relating biology to ‘race’ and genetics requires thinking ‘outside of the box’.

Introduction to the state of the science

Knowledge gained from the Human Genome Project and research on human genome variation is forcing a paradigm shift in thinking about the construct of ‘race’, much like the process described by Thomas Kuhn in his renowned book, The Structure of Scientific Revolutions. Kuhn describes the paradigm shift in science as occurring when anomalous, scientific results cannot be explained by inadequate methods. With an accumulation of such anomalies, scientists must begin to consider that the paradigm or model of reality under which the hypotheses are tested has shifted and is no longer valid. Today, scientists are faced with this situation in genomics, where existing biological models or paradigms of ‘racial’ and ‘ethnic’ categorizations cannot accommodate the uniqueness of the individual and universality of humankind that is evident in new knowledge emerging from human genome sequence variation research and molecular anthropological research. The paradigms of human identity based on ‘races’ as biological constructs are being questioned in light of the preponderance of data on human genome sequence variation and reflect the need for a new explanatory framework and vision of humankind with different fundamental assumptions about biological groups that can accommodate new knowledge from a new generation of research.

Discourse on the validity of ‘racial’ categorization in humans is certainly not new and will perhaps continue for generations to come, taking on various forms as new scientific and nonscientific knowledge emerges. Shifts have occurred over time from a purely anthropological or biological debate to conversations about numerous psychosocial, societal, ethical and legal ramifications indicative of the undeniable applicability of the topic of ‘race’ to virtually every aspect of human existence.

This commentary describes the intellectual climate under which new information from human genome research is introduced into twenty-first-century biomedical science and society, new information that forces a more integrative construct of human biology and disease. The discordance between ‘race’ and human genome variation sets the stage for an analysis of the state of the science on human genome variation and ‘race’ and the relationship between genome variation and population differences in health and disease. The paper also provides a brief background for, and overview of, this Supplement to Nature Genetics…

…As previously indicated, much of the current literature on genetics and health disparities emphasizes the potential dangers of connecting genetics with disparities, and relatively little research has been directed towards the potential of genomics to further understand health disparities in ways that can accomplish the US public health objectives of Healthy People 2010: a long and healthy life for all and the elimination of health disparities. Conditions are prime for the application of knowledge gained from research on the structure of DNA sequence variation in African and African Diaspora populations to probe the influence of gene-environment interactions in race- and ethnicity-based health disparities. With plans underway for the Translational Genomics Research in the African Diaspora initiative, the NHGC is positioned to lead the US and the global community with a large-scale, interdisciplinary project for human genome research in the African Diaspora. Translational Genomics Research in the African Diaspora will be a population-based resource for translational genomics in clinical research, which capitalizes on the evolutionary and migration history of Africans and the African Diaspora, and a resource for dissecting the contributions of gene-environment interactions (environment broadly defined to include psychosocial, cultural and other subjective factors) to disease susceptibility and response to medicines…

Read the entire commentary here.

Grassroots Marketing in a Global Era: More Lessons from BiDil

The Journal of Law, Medicine & Ethics
Volume 39, Issue 1, Spring 2011
pages 79–90
DOI: 10.1111/j.1748-720X.2011.00552.x

Britt M. Rusert, External Humanities Fellow
Center for the Humanities
Temple University

Charmaine D. M. Royal, Associate Research Professor
Institute for Genome Sciences & Policy; Department of African and African American Studies
Duke University

BiDil, a heart failure drug for African Americans, emerged five years ago as the first FDA approved drug targeted at a specific racial group. While critical scholarship and the popular media have meticulously detailed the history of BiDil from its inauspicious beginnings as a generic combination drug for the general population to its dramatic resuscitation as a racial medicine, the enthusiastic support shown by some African American interest groups has been too little understood, as has their argument that BiDil was an important response to race-based health disparities. In this essay, we show how the drugmaker, NitroMed, used the support it had solicited from black advocacy groups and community members to market BiDil as a unique “grassroots” pharmaceutical to the African American community. We go on to situate BiDil, which relied on a domestic, U.S.-centered conception of race, within the context of the global nature of both race and health disparities. Ironically, the grassroots angle of the BiDil case ultimately obscured the global crisis in health disparities. Furthermore, we argue that the grassroots model initiated by NitroMed should be taken note of, as it marks a potential avenue for the marketing of other drugs in the future.

Read the entire article here.

The pitfalls of tracing your ancestry

Nature News
Nature Magazine
2008-11-13

Brendan Maher

Charmaine Royal of the Duke Institute for Genome Sciences and Policy explains the limitations of genetic testing.

Ancestry testing is genetics’ most direct and sometimes tempestuous interaction with personal identity. An estimated half-a-million Americans will purchase genetic tests from companies this year and thousands more will participate in university research where such tests will be used. The tests raise ethical and legal questions, on which an 11–15 November meeting of the American Society of Human Genetics (ASHG) in Philadelphia, Pennsylvania, hopes to provide some guidance.

Charmaine Royal, an associate professor at the Duke Institute for Genome Sciences and Policy in Durham, North Carolina, who co-chairs a task force—looking at genetic ancestry testing—at the meeting, talks to Nature.

What prompted the ASHG to develop these recommendations?

People have been researching their ancestry forever, using stories and historical records, and people have taken advantage of genetic technology with the hope of learning more. But there’s this perspective that genetics provides the truth, and that may need to be challenged. In general, genetic ancestry testing is fallible just like many of the tools we use. Some people think that genetics will provide the be all and end all of information about their ancestry. There are limitations as to what ancestry can provide…

…What are the limitations of such tests?

The general limitation, I’d say, of all of these tests, is that they can’t pinpoint with 100% accuracy who your ancestors may or may not be. Some people are concerned that the biogeographical ancestry test reifies the notion of race. This is the notion that there are four or five parental groups from which we all came and there are discrete boundaries between these groups. But our genetic research has shown that those boundaries don’t exist.

In lineage testing, where someone is wanting to know which tribe or region in Africa they came from, the information that’s given is based on the present day populations. The names of those groups and those locations have changed over time and so people getting that information about present day Africans and extrapolating to who their pre-middle-passage ancestors may have been—that may not necessarily be accurate. So, those limitations need to be clarified.

Another limitation is that the outcomes of ancestry tests are very much dependent on what is already in a database—who a client’s DNA can be matched to. If a database is not comprehensive some potential matches will be missing, and nobody has a complete database. That’s a major limitation, probably one of the biggest…

Read the entire article here.