Race, Genomics and Chronic Diseases: What Patients Have to Say—A Commentary

Evidence abounds that developments in genomics are gaining increased attention, as more and more biological discoveries drive efforts to elucidate the role of genetic variation and mutation in predisposing humans to disease. Multiple dimensions of genomic science have been the focus at many levels in both the public and private sectors. For instance, the National Human Genome Research Institute¹ has called for more genomic research of Africans, and people of the African diaspora. Under the headline, Genomics is Failing on Diversity, Popejoy and Fullerton² discuss how a complex web of historical, cultural, scientific, and logistical factors are sustaining an embarrassing bias in genomics. Their findings indicate that the proportion of individuals included in genome-wide association (GWAS) studies, (the preferred tool for discovering the genetic factors in common diseases) who are not of European descent has increased to nearly 20%. Much of this rise is the result of more studies being done in Asia on populations of Asian ancestry. It prompted warning that a much broader range of populations should be investigated to avoid genomic-medicine being of benefit merely to a “privileged few.”

Additional evidence of increased focus on genomics includes genome-editing technology which has tripped an alarm among bioethicists and other members of the scientific and lay communities. Recently, researchers called for restraint in genomic editing as concerns intensified about the possibility of genetically engineered human beings. Although many European countries ban germline genetic engineering in humans, the United States and China do not have such laws.³

Still another metric of advances in the science of genomics is the growth of the body of literature. It has increased greatly both in monographic and periodic publications. In fact, genomic medicine permeates not only the medical literature but the press, and the economy as well, prompting Greely to observe “Genomics is just too many things: It is omnipotent and irrelevant; unchangeable or acutely responsive to its environment. It is about health and disease as well as human enhancement. It can be used as a tool for tracing ancestry from our ethnic forebears to more recent family and it has become a key to criminal identification.”^{4[p. 1446]}

In this issue of the Journal, Horowitz and colleagues⁵ add to the growing literature regarding multiple dimensions of genomics and chronic disease. The researchers report a novel approach to exploring information required to aid the translation of genomic discoveries into the health care of patients.

The investigators tested 26 adults with self-reported African ancestry for variants of the gene APOL1. This gene increases the risk of kidney failure 10-fold and is nearly exclusively found in people with African ancestry. Horowitz and her colleagues conducted interviews immediately after testing and again 30 days later. They report on participants’ expressed knowledge, attitudes, and equally important, thoughts (“what they say”) about this genetic factor. These data suggest the magnitude of the problem at issue: chronic kidney disease affects one in nine Americans and more than 300 million persons worldwide. Of these millions, approximately 2.5% have end-stage kidney failure and require dialysis or transplantation to survive.

Judging by the evidence presented, this study is geared towards creating societal impact as well as scientific excellence. In this direction, Horowitz et.al recognized some of the complexity of the problems that must be addressed along with the need to integrate information, data, perspectives, concepts, and/or theories from two or more disciplines. To do that, they convened a multidisciplinary team. The soundness of this decision is reflected in the noteworthy quality of the report.

This study also illustrates that the days are gone when patients were passive recipients of medical care with little or no role in research. Throughout the report there is evidence of the importance of patients’ engagement including their knowledge and attitude. Today patients are widely discussed as partners of providers, and their views are pursued by researchers/practitioners much more often than in the past. This has benefits not only for patients but providers as well.⁶ It is a message that has...