In his听2015 State of the Union听补诲诲谤别蝉蝉,听President Barack听听a precision medicine initiative that would later be known as the听听program. The research, now well underway at the听National Institutes of Health, aims to analyze the听DNA听of at least 1 million people across the United States to build a diverse health database.
The key word there is 鈥渄iverse.鈥� So far,听the program has collected听more than 560,000 DNA samples, and nearly half of participants identify as being part of a racial or ethnic minority group.
NIH researchers strategically partnered with community health centers, faith-based groups, and Black fraternities and sororities to recruit people who have been historically underrepresented in biomedical research.
鈥淲e are actually looking to overrepresent鈥� these previously marginalized groups, explained听Martin Mendoza, director of health equity for All of Us, which will continue to enroll participants through at least 2026, when researchers intend to evaluate the next phases of the project.
Their success to date is remarkable for a few reasons.听听is typically low in diversity. And when it comes to genetics research specifically, diversity has been nearly nonexistent.
Since the completion more than 20 years ago of the听Human Genome Project, which mapped most human genes for the first time, nearly 90 percent of genomics studies have been conducted using DNA from participants of European descent,听.
Humans of all races and ethnicities are 99 percent genetically identical. But even small differences in our DNA can have a profound impact on our health.
Here鈥檚 an example: A few years ago,听听that some Black patients had been misdiagnosed with a potentially fatal heart condition called听hypertrophic cardiomyopathy听because they鈥檇 tested positive for genetic variants that were thought to be harmful. But it turns out the variants, more common among听Black Americans听than among听White Americans, are likely harmless. The diagnosis, though, is life-altering 鈥� patients with hypertrophic cardiomyopathy have traditionally been discouraged from competing in sports, for example.
Such misdiagnoses can be avoided if 鈥渆ven modest numbers of people from diverse populations are included in sequence databases,鈥� NIH wrote.
Easier said than done. A genetics research project underway in听South Carolina听肠补濒濒别诲听In Our DNA SC听is struggling to recruit enough Black participants. The scientists behind the project said two years ago they aimed to collect samples reflecting the diversity of the state, where 27 percent of residents identify as Black or African American.
鈥淲e鈥檇 like to be a lot more diverse,鈥� said听Daniel Judge, principal investigator for the study and a cardiovascular genetics specialist at the听Medical University of South Carolina.
To date, only about 12 percent of participants who provided socio-demographic data identify as Black. An additional 5 percent identify as belonging to another racial minority.
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