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An NIH Genetics Study Targets a Long-Standing Challenge: Diversity – KFF Health News

in his 2015 state of the union Address, President Barack Obama announced A precision medicine initiative that would later be known as We all Program. Research is now well underway National Institutes of Healthto analyze dna To create a diverse health database of at least 10 million people across the United States.

The key word there is “diverse”. As yet, The program has been collected More than 560,000 DNA samples, and nearly half of the participants identified 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.

“We’re really looking to represent more of these previously marginalized groups”, explained martin mendozaThe director of Health Equity for All of Us, who will continue to enroll participants until at least 2026, when researchers intend to evaluate the next steps of the project.

His success to date is notable for a few reasons. Involvement in biomedical research Diversity is generally low. And when it comes to genetics research specifically, diversity has been almost negligible.

Since its completion more than 20 years ago human genome projectwhich first mapped most human genes, approximately 90 percent of genomics studies have been conducted using DNA from participants of European descent, research shows,

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’s an example: A few years ago, researchers found Some black patients were misdiagnosed with potentially fatal heart disease hypertrophic cardiomyopathy Because he tested positive for a genetic variant that was thought to be harmful. But this variant is more common among black american compared to the middle white american, are probably harmless. However, the diagnosis is life-altering – for example, patients with hypertrophic cardiomyopathy are traditionally discouraged from competing in sports.

Such misdiagnoses could be avoided if “even modest numbers of people from different populations were included in the sequence database,” the NIH wrote.

easier said than done. A genetics research project is underway in South Carolina called in our dna sc Is struggling to recruit enough black participants, Scientists behind the project said their goal two years ago was to collect samples reflective of the diversity of the state, where 27 percent of residents identify as black or African American.

“We would like to be much more diverse,” he said daniel judgeStudy principal investigator and cardiovascular genetics expert Medical University of South Carolina,

To date, only 12 percent of participants who provided socio-demographic data identify as black. An additional 5 percent identified as belonging to another racial minority.


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