Mixed Race Studies

Will Personalized Medicine Challenge or Reify Categories of Race and Ethnicity?

Virtual Mentor: American Medical Association Journal of Ethics
Volume 14, Number 8 (August 2012)
pages 657-663

Ramya Rajagopalan, Ph.D., Postdoctoral Research Fellow
Department of Sociology
University of Wisconsin, Madison

Joan H. Fujimura, Ph.D., Professor of Sociology; Professor of Science and Technology Studies
Robert F. and Jean E. Holtz Center
University of Wisconsin, Madison

In the last 5 years, medical geneticists have been conducting studies to examine possible links between DNA and disease on an unprecedented scale, using newly developed DNA genotyping and sequencing technologies to quickly search the genome. These techniques have also allowed researchers interested in human genetic variation to begin to catalogue the range of genetic similarities and differences that exist across individuals from around the world, through initiatives such as the International Haplotype Mapping Project. These studies of human genetic variation promise to produce new kinds of information about our DNA, but they have also raised ethical questions.

Early results from genome-wide studies of possible links between DNA and various medical conditions are being used by various actors to develop what they call “personalized medicine,” the effort to tailor and individualize diagnoses and treatments for use during routine medical care. The promises of personalized medicine are built on the idea that each individual’s genome is unique. They are also built on the idea that genetic variation among individuals will help explain differential susceptibilities to disease and why some patients respond better to some treatments than others. To this end, researchers have focused on characterizing genetic differences between individuals and groups…

…We note two ethical dilemmas posed by the claims made by these and other similar studies that attempt to link genetics, ancestry, and disease, particularly when ancestries are described in terms of continent of origin, for example, European, African, and Asian. Such labels are based on socioculturally defined U.S. categories of race and ethnicity, such as white, black, and Asian. The first dilemma arises because these studies are based on a relatively small subset of individuals who identify within any of these continental ancestry or race groupings. Thus, any extension of study findings to others who identify within these broad groupings would be fraught with problems of accuracy and precision. Indeed, much genetic evidence suggests that those who identify with a particular U.S. race or ethnicity census category are quite genetically heterogeneous. Thus, there is no neat correspondence between genetic variation and one’s assumed race or ethnicity. Indeed, no single pattern of genetic variation is diagnostic of affiliation with any particular race or ethnicity.

Second, and consequently, many worry that the new technologies being used to develop personalized medicine may also become technologies that are used to define “genetic signatures” for, or “genetic stereotyping” of, different racial or ethnic groups. This aspect of personalized medicine, if developed and nurtured into broader clinical use, will popularize the idea that it is possible to infer underlying genetic makeup from an observer-defined or self-reported race or ethnicity, when even proponents of using race in genetics research argue that this is a logical fallacy. This possibility recalls some of the past attempts to link race and biology, e.g., the eugenics movements of the early twentieth century…

…Nor is race new to American medical genetics. Many scholars have analyzed the American eugenics movements of the early twentieth century and the more ethically aware field of medical genetics that they eventually gave rise to in the mid-twentieth century. Prior to the start of the Human Genome Project, medical genetics focused primarily on relatively rare, familially inherited diseases. Certain generalizations about the relationships between race and genetics, now part of popular understanding and medical training programs, grew out of these studies. For example, medical school and college biology curricula continue to propagate the idea that some single-gene, highly heritable diseases, like Tay-Sachs disease or sickle-cell anemia, are prevalent in only certain groups—as in Jewish and African American groups, respectively—than other groups. What is often not acknowledged is that Tay-Sachs has also been observed at high prevalence in non-Jewish groups in Quebec, Canada and that sickle-cell and other hemoglobin disorders are common in many groups around the world. The misconception that a particular disease like sickle-cell is specific to African Americans may lead to patients being misdiagnosed or diagnosed too late in the progression of disease simply because they are not of the ethnic group “marked” by the disease…

…Personalized medicine is at a crossroads. It may be used to sustain old beliefs about racial differences, yoking them to supposed differences in health and susceptibilities to illness. This in turn may fuel the view that our genetics establishes an innate, definitive roadmap of our future health. However, recent studies of hundreds of common complex diseases suggest that genetics has only a small part to do with our susceptibilities to these diseases.

An alternative route for personalized medicine is for its practitioners to take stock of the various environmental onslaughts that individuals are subjected to and tailor medical diagnoses and treatments by considering each patient’s unique complement of environmental and biological factors that may contribute to health or disease. If personalized medicine is to bear out its name and become truly “personalized,” then a focus on racial differences at the level of the genome constitutes a step off the path with many ramifications, including the possibility of racial and ethnic stereotyping and discrimination during routine medical care that could lead to misdiagnoses and ineffective treatment regimens. Efforts to achieve personalized medicine in clinical settings would do better to focus on patterns in genomes and how such patterns may be associated with disease, rather than trying to find genetic correlates for existing racial and ethnic categories…

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Book review: What’s the use of race? Modern governance and the biology of difference

BioNews
Number 634 (2011-11-21)

Dr. Rachael Panizzo

Decoding the human genome has revealed details of our evolution and patterns of migration across the world. The study of genetic diversity between ethnic groups can help explain the ways in which race influences our biology and susceptibility to disease. It promises to deliver a new era of personalised medicine, where an individual’s unique DNA profile is used to make predictions about their future health; where specialised drugs are tailored to individual patients, based in part on their genetic ancestry.

But what do we mean by ‘race’, exactly? Is race a relevant biological or medical category, and how is it defined in practice?

These issues are considered in the collection of essays What’s the use of race? Modern governance and the biology of difference, edited by Dr Ian Whitmarsh of the University of California San Francisco, and Dr David Jones at the Massachusetts Institute of Technology. The contributors explore the use of race in biomedical research and some of the emerging practical applications in medicine and forensic science. Their diverse and sometimes conflicting perspectives result in an engaging book that highlights the complexity of the issue.
 
Genetics has become the foundation of a new ‘biocitizenship’, where it is our civic duty to know and share our own genetic information and engage with our health at a molecular level. Common genetic make-up replaces common social experience, and group identities are carved along lines of shared genetic traits, ‘reinterpreting existing political identities and creating new ones’, says Professor Dorothy Roberts, from Northwestern University. Social and political categories of difference—such as gender or race…

…In the medical setting, subtle statistical differences are often interpreted as blanket differences between races, and individual patients are assumed to reflect the average characteristics of their race. But Jay Kaufman, associate professor of epidemiology at McGill University, and Professor Richard Cooper, of Loyola University, Chicago, demonstrate that in practice, a patient’s ethnic identity adds little to the diagnosis or prognosis of disease and is rarely medically relevant.

The essays of Professor Jonathan Kahn (Hamline University), and Pamela Sankar, associate professor of bioethics at the University of Pennsylvania emphasise how embedded racial categories are in forensic science, giving examples of DNA fingerprinting and phenotyping. Originally, racial information was used in DNA fingerprinting technology to improve accuracy, but as it has improved substantially, Professor Kahn argues it is now superfluous, irrelevant, and risks perpetuating racial stereotypes – ‘conflating race, genes and violent crime’…

…Should race be used at all in medical research? Many authors argue that its inclusion reifies the concept of race as a fundamental human characteristic. But Dr Kaufmann, Professor Cooper, and Harvard School of Public Health Professor Nancy Krieger suggest race does have a place in biomedical research, as a social category—including information about race or ethnicity is a way of documenting health inequalities, which would otherwise be invisible and ignored….

Read the entire review here.