Human Genomics Research Is Facing a Diversity Problem

Precision medicine promises of tailoring the diagnosis and treatment of disease to your unique genetic makeup. A doctor might use the presence of some genetic markers to diagnose a disease or choose one drug for treatment over another.

 

But some studies which link genetic markers with disease aim largely on white European populations and avoid other races and ethnicities, as per an analysis which is published in the journal Cell on Thursday. The researchers argue this lack of diversity in the studies of genomic harming our scientific understanding of the genetic underpinnings of disease in all populations and exacerbates health care inequities.

 

The analysis reports that 78 % of all individuals included in genomic studies of disease up to 2018 were of European descent, 10 % Asian, 2 % African, 1 % Hispanic, and less than 1 % for all other groups.

 

Sarah Tishkoff said that that is just unbelievable. She is an evolutionary geneticist at the Perelman School of Medicine at the University of Pennsylvania who also was an author of this analysis. She added that it really limits our understanding.

 

Neglecting genomic diversity can mean missing out on that information which could provide an advantage to all. For instance, the authors of the study point to PCSK9, a gene important for regulating cholesterol. Studying mutations which occurred in West African populations offered extra insight into the underlying biology and led to a new class of drugs which benefit people of all races.

 

Alice Popejoy, a postdoctoral geneticist at Stanford University not involved in this analysis, said that they are really just choosing to miss out on learning all sorts of things regarding the genome and what it does.

 

The genetics of disease vary from relatively simple to mystifyingly complex. At one extreme are Mendelian diseases in which one gene variant necessarily guarantees that you'll have that disease, regardless of your genetic background. Think Huntington's disease or muscular dystrophy.

 

At another extreme are diseases in which many different genes seem to contribute, alongside environmental factors. Like hypertension or coronary artery disease.

 

Popejoy says that researchers need to meaningfully engage with people affected by a research agenda given the history of unethical medical research on minority communities. Popejoy also said that researchers require to recognize the value, both scientifically and ethically, in studying diverse populations, but they also need to demonstrate that value to the people they're studying.

 

By: Preeti Narula

Content: https://www.npr.org/sections/health-shots/2019/03/21/705460986/human-genomics-research-has-a-diversity-problem