This past fall, I attended the Mid-Atlantic Biology Interest Group — my first biological anthropology conference. One talk was particularly illuminating and has stuck with me since. Researchers from the Cobb Research Laboratory at Howard University, which investigates human genetic and physiological variation particularly pertaining to people of African ancestry, described the consequences of broad 'African American' racial categorization in medicine, as well as an arbitrarily selected initial 'reference genome' — stitched together largely, if not exclusively, from European descendants —that make genomic approaches to healthcare particularly fraught for African Americans.
Africa has the greatest genetic and phenotypic diversity in the world. However, in America, those of African descent are asked to check one box for their medical records -- 'African American' -- which, in a healthcare context, is meant to be informative about considerations and conditions 'specific' to those of African ancestry. With so much genetic diversity among African Americans, this presumed specificity is highly problematic. Inevitably, such an attempt at ‘precision’ medicine based on a narrow reference genome that may or may not actually be remotely related to the patient will lead to misguided treatment, missed diagnoses, and other complications in patient care due to a lack of accuracy dangerously perceived as the opposite.
The Cobb Research Laboratory is tackling this issue head-on by working to reconstruct lost African American history through forensic anthropology, working directly with African and African-descended communities to collect DNA, and using these data to build a robust African genome AND microbiome database that can actually serve African Americans the way precision medicine is (currently misleadingly) marketed. During 2017-2018, the lab collected 464 samples that have since been coded and analyzed, and this database is growing with ongoing ‘DNA Day’ collection events. The lab has the support and partnership of National Geographic in the effort to fill this substantial gap in knowledge about human genetic diversity.
Mackenzie Hepker
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