In 2003, the Human Genome Project became the culmination of the history of genetics research, allowing us to understand the role of genetics in human health and disease. As part of The Clinical Advisor’s 20th Anniversary, this article explores the influence of race and genetics in clinical practice. 

Medical professions, including the field of genetics, have long struggled with defining race. “Race” remains an especially fraught and imprecise term.1 In the first few decades of the 20th century, race was defined by the notion that one member of a race was thought to share the same social and physical traits as other members of that race.2 Historically, race has been mapped into continental populations and described in the context of evolutionary biology. In recent years, however, the concept of race has become a way to understand the frequency of individual genes in diverse human populations.2 Today, new genetic data have enabled researchers to re-examine the relationship between human genetic variation and race.

Race remains prominent in health research and clinical guidelines and is routinely invoked in clinical practice.4 Recent studies suggest that race is important to consider in clinical care because it provides common assumptions about biologic genetics and cultural characteristics as these factors relate to health.4 The need for a genetically competent workforce that can assure advanced care practitioners’ ongoing participation in translation of genomic discoveries into everyday health care will be vital for inclusion of race in health research, evidence-based practice (EBP), and clinical guidelines. This article will address genetic disorders in relation to race, analyze trends in contemporary issues, and discuss potential innovations for healthcare practice, as well as evaluate the evidence for appropriateness when applying an intervention or a treatment modality into clinical practice. 

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Literature and studies 

The term “race” in scientific literature refers to biologic differences between groups who are assumed to have different biogeographic ancestries or genetic makeup.5 Race is a construct of human variability based on perceived differences in biology, physical appearance, and behavior.5 In the United States, the majority of racial differences in health are explained by socioeconomic status and factors surrounding access to medical care.6 To fully understand the role of race in clinical practice, it is important to consider the contribution of genetic factors. Researchers describe the variation in gene alteration or gene expression by race or ancestry.6 

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There are various barriers to genomic medicine for racial minorities such as socioeconomic status, rural settings, and lack of participation. Moreover, clinical trial research, including biomarkers and drug development, continues to lack inclusion of and participation by minorities.6 This lack of representation presents a disadvantage for minority groups such as people from African ancestries. Most large-scale, genome-wide association studies have been conducted in populations of European ancestry.6 Although there has been an improvement in research on genetics and race, further studies need to be conducted as precise genetic information on race could affect clinical practice.