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Clinic to Diagnose Rare Diseases

A clinic that's scheduled to open up at the HudsonAlpha Institute for Biotechnology in Alabama is going to use whole-genome sequencing to diagnose patients with rare diseases, reports.

Howard Jacob, who recently joined HudsonAlpha from the Medical College of Wisconsin, notes that rare diseases aren't all that rare as about 5 percent of Americans have one. This new clinic, he says, will be a resource for adults and parents with children with such diseases to diagnose or confirm tentative diagnoses.

"It's a large unserved need," Jacob says, "and medically there's a lot of justification for using that information."

He adds that the clinic will sequence and analyze the whole genomes of patients within 90 days at an estimated cost of $6,000. That cost, however, is unlikely to be covered by insurance, Jacob notes.

The clinic won't treat patients with rare diseases, says. Instead, Jacob says they hope that area physicians will send their patients for sequencing earlier in the diagnostic process sooner than they do now for answers. Then, he says, patients can seek treatment at area hospitals.