Race and genetics versus 'race' in genetics A systematic review of the use of African ancestry in genetic studies

Social scientists have long understood race to be a social category invented to justify slavery and evolutionary biologists know the socially constructed racial categories do not align with our biological understanding of genetic variation. The completion of the Human Genome Project in 2003 confirmed humans are 99.9% identical at the DNA level and there is no genetic basis for race. A systematic review of the PubMed medical literature published since 2003 was conducted to assess the use of African ancestry to denote study populations in genetic studies categorized as clinical trials, to examine the stated rationale for its use and to assess the use of evolutionary principles to explain human genetic diversity. We searched for papers that included the terms 'African', 'African American' or `Black' in studies of behavior (20 papers), physiological responses, the pharmacokinetics of drugs and/or disease associations (62 papers), and as a genetic category in studies, including the examination of genotypes associated with life stress, pain, stuttering and drug clearance (126 papers). Of these, we identified 74 studies in which self-reported race alone or in combination with admixture mapping was used to define the study population. However, none of these studies provided a genetic explanation for the use of the self-identified race as a genetic category and only seven proffered evolutionary explanations of their data. The concept of continuous genetic variation was not clearly articulated in any of these papers, presumably due to the paucity of evolutionary science in the college and medical school curricula. Lay Summary: A review of the medical literature since the completion of the Human Genome Project in 2003 revealed that race, a social construct created to justify slavery, continues to be used as a genetic category, due to a lack of understanding of the continuous nature of human genetic variation.