Howard Jacob understands the value of whole genome sequencing as a diagnostic tool. Jacob and his team were the first to use the technology to diagnose a child with an ultra-rare disease, which allowed doctors to save the boy’s life. Jacob, now Chief Medical Genomics Officer of HudsonAlpha Institute for Biotechnology, is working to use whole genome sequencing to find answers for other undiagnosed patients and expand the technology’s use as a clinical tool. We spoke to Jacob about the use of whole genome sequencing in the clinic, how it’s changing the way patients with rare diseases are treated, and the value of a diagnosis even in the absence of an available treatment.

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