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To Know What's Wrong

Nearly 70 percent of patients who underwent clinical genome sequencing at a Tijuana clinic received a diagnosis, according to a new study.

As part of a collaboration between Illumina's philanthropic arm and the Hospital Infantil de Las Californias in Tijuana, pediatric patients at a dysmorpholgy clinic at the hospital were offered genome sequencing in a bid to diagnose their conditions, the San Diego Union-Tribune reports. The researchers, led by Rady's Children's Hospital's Marilyn Jones, who the Union-Tribune notes has been volunteering at the hospital since 1994, uncovered clinically significant genomic findings in 41 of their 60 patients, who had had no previous genetic testing because of the cost. They further report in their npj Genomic Medicine paper that about half of the patients who received a diagnosis had a change in how their case was managed based on that information.

The researchers also note that their findings suggest that, as costs decline, genome sequencing could be a viable first-line test. If the patients hadn't undergone sequencing, "they never would have gotten a precision diagnosis, the families never would have known what was wrong, they may never have gotten the right treatment," Illumina's Ryan Taft, the co-senior author on the paper, tells the Union-Tribune. "This was a little bit of a proof point of what the future could look like if everybody had access to this technology."