Health agency puts spotlight on mystery diseases

NIH launches programme to help patients with undiagnosed conditions. ...

The problem of undiagnosed patients emerged when the ORD surveyed several years’ worth of questions fielded by the information centre it runs in partnership with the genome institute. “Around 6.6% of the questions we were getting related to undiagnosed diseases,” says ORD director, Stephen Groft. “That becomes a major problem when you extrapolate to the entire population.”

Patient advocates agree. “The single most consistent issue that people who call us are dealing with is the difficulty of getting a diagnosis,” says Mary Dunkle, a spokeswoman for the National Organization for Rare Disorders in Danbury, Connecticut. “People are very hopeful and actually excited about this. It’s something that patients feel hasn’t received a lot of attention.”

There will be plenty of candidates for the new programme: the NIH has already received unsolicited copies of some patients' details, as word has spread among patient groups. Patients will nevertheless need to be referred by a doctor, Gahl says. “We have developed a stringent referral process to ensure this programme deals with those cases that have truly confounded medical experts,” he says. “ We will be very selective when it comes to patient eligibility.” - nature