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The latest research, presented today at ASHG, shows that GeneDx can confidently provide genomic answers for everyone, no matter their ancestry.
November 12, 2024 • 2 min read
It’s been a concern with genetic testing for years now: Because genetic testing was historically ordered more often for non-Hispanic white people, are they more likely to get an answer? It makes some logical sense: If certain populations are underrepresented in genomic databases, it’s harder to make a genetic diagnosis for people from those populations.
A study shared at the 2024 American Society of Human Genetics Annual Meeting shows that, for patients tested at GeneDx, a person’s ancestral background does not significantly affect their likelihood of receiving a positive genetic test result.
The study, a collaboration among GeneDx, the University of Washington, Brotman Baty Institute for Precision Medicine, Geisinger and Seattle Children’s Hospital, was one of the largest of its kind: conducted across approximately 73,000 patients who received exome testing with GeneDx. When combined with duo and trio samples, the study looked at nearly 187,000 samples in total.
The results
The study found that, for the 73,000 children with rare diseases tested at GeneDx, the diagnostic yield of exome sequencing does not vary significantly between non-white and non-Hispanic white patients:
In other words, the diagnostic yield of GeneDx exome sequencing for individuals with rare diseases does not vary significantly between under-represented minorities and non-Hispanic white patients.
Instead, the study suggests that the real problem lies in access to genetic testing, complex workflows, costs, and lack of ordering clinicians. Clearly, there’s still a lot of work to be done.
At GeneDx, we have made concerted efforts to make it easier for under-represented minorities to access their genomic information—from accepting all Medicaid to taking part in studies like this one. Combined with our unmatched dataset of over 700,000 clinical exomes and genomes, those efforts have enabled us to confidently provide genomic answers for everyone.
Because GeneDx’s vision truly is for everyone: We see a future where any genetic disorder is diagnosed quickly to prevent disease progression and ensure long and healthy lives for all.
