Genetic Research, Race, and Informed Consent

Tina Rulli is an assistant professor of philosophy. Her project, which addresses the ethics of the Precision Medicine Initiative, was awarded an ISS Individual Research Grant in 2016. She provided this update in July 2017.

How did this project come about? What inspired it?

I was working on a grant proposal with philosopher of biology Jim Griesemer and anthropologist Andres Barragan. We are developing a model for subjects of genomic sampling to co-inform the labeling of their genetic data. Typically, researchers group genetic samples based on perceived or subject-identified group membership of participants (e.g. place of origin, language, ethnicity, racial identity, or nationality). But people’s social identities may not be accurate proxies for their genetic “identities.” We propose as an ethical and epistemic/scientific ideal that subjects be enabled to re-identify themselves after researchers have run preliminary analysis on the co-hort genetic data and presented it to the individual subjects. Thus, research subjects should be seen as co-participants in interpreting the data. Scientists would then re-run data analysis on the genetic data using the revised subject identities and see how robust the data are. Ours is a modification to the unilateral sampling model of the Human Genetic Diversity Project, (which has received criticism both on scientific and ethical grounds). Our model would make researchers accountable to the social dimension of group identity, hopefully resulting in both better data and more ethical, socially-aware research. This was the entry point for my more general research interest in race and genetics. 

How has it progressed since you received an ISS individual Research Grant?

We did not receive the grant we applied for, although we are still pursuing other opportunities. But that project provided the background for pursuing a related project outlined in my ISS grant proposal. In 2015, President Obama announced the Precision Medicine Initiative, an effort to revolutionize medicine by tailoring treatment to individual genomic profiles. Bioethicists have an important role to play in shaping precision medicine research and application. One concern is that given that individual genomic screening is expensive and inaccessible to many, researchers and clinicians may opt to use individuals’ race or ethnicity as proxies for their individual genetic profile. This is scientifically and ethically problematic, as race and ethnicity are not genetic concepts, self-reports of race and ancestry may be incomplete or inaccurate anyway, and problematic notions about race (e.g. that health inequities are biologically-caused rather than socially explained) are bound to slip in. I am surveying the ways in which race and ethnicity are being used in precision medicine research in order to contribute to an informed empirical and ethical critique. The ISS grant funded my hiring of recent UCD graduate Sabrina Zhang as my research assistant to perform an extensive literature review and annotated bibliography of the scientific and (sparse) ethical literature on race, genomics, and precision medicine.

What notable or surprising findings can you share at this point?

The literature reveals that race is being widely used as a proxy for individual genetic profiles and oftentimes consciously so by scientists, some of whom advocate it as a “stepping stone” to individualized medicine. This alone was surprising to me—as I suspected we’d find evidence of racialized medicine, but I was unaware of how much this is in fact the norm.

What is the next step?

While my initial interest was in how race is being illicitly used to diagnose and treat individual patients, the literature brought to my attention the importance of diverse genetic data as a precondition for the success of precision medicine in the first place. This brings us back to the original project—improving our methods for collecting self-reports of ancestry. It is in part a justice issue. We want precision medicine to work for everyone, not just those with European ancestry, from whom we have the most samples. One might think in order to achieve diversity, racial profiling in genomics is essential. But we cannot assume that race or self-reports of ancestry will get us the needed genetic diversity in the samples. Genetic diversity is finer grained than broad racial categories (and cross cuts those categories). We need a better proxy for diversity of population samples. This is a distinct point from the one I was originally interested in—that race cannot be a proxy for individual genetic identity. Further, I’d like to more forcefully make the connection between sound methodology on the data collection side, as proposed in our original project, and the critique of race as individual proxy on the treatment side.

Learn more about Tina Rulli.