When the Human Genome Project was completed back in 2003, its top researcher Dr. Francis Collins, now the head of the National Institutes of Health, referred to it as “the first draft of the human book of life.”
Collins, and science in general, have since acknowledged that it was a rough first draft since most of the contributions were “written” by people of European descent.
The lack of diversity in genetics research — recently called out in journals like Cell and covered on PBS — was highlighted again this week with a comprehensive multi-center analysis by a consortium of researchers, co-led by geneticists, epidemiologists and biostatisticians at Fred Hutchinson Cancer Research Center. Their findings were published Wednesday in the journal Nature.
The consortium, named PAGE (short for Population Architecture using Genomics and Epidemiology), analyzed the data of nearly 50,000 U.S. participants of non-European ancestry to determine, among other things, if the Human Genome Project’s “draft” results could be generalized across ancestral groups.
The short answer: They can’t.
This new analysis found even more evidence that large-scale genomic studies — used for everything from drug development to figuring out an individual’s disease risk — need to include diverse, multi-ethnic populations to accurately represent genetics-related disease risks in all populations. Not doing so is misleading, and potentially dangerous.