Health agency puts spotlight on mystery diseases

NIH launches programme to help patients with undiagnosed conditions.

The NIH's Clinical Center in Bethesda will soon be investigating patients' problem diagnoses. Credit: Duane Lempke, Sisson Studios, Inc.

Each time she goes to see a new doctor, Marianne Genetti takes with her a thick folder bulging with notes. The folder contains her medical records, but despite the number of doctors she has seen, nowhere in the sheaf of papers is a diagnosis.

Genetti, the founder and executive director of Florida-based patient activist group In Need of Diagnosis, has lived for decades with a mysterious malady in which fat glues her lungs to her diaphragm, leaving her breathless. The problem once caused one of her lungs to collapse, requiring emergency surgery.

Genetti says there is no clinic she can attend to get a diagnosis. “I have a wonderful medical team,” she says, “but they have no place to send me.”

Today, that may change for Genetti and others like her, with the launch of a programme for undiagnosed diseases by the US National Institutes of Health (NIH).

Based at the agency's Clinical Center, its huge hospital in Bethesda, Maryland, the programme will enlist the expertise of more than 25 senior NIH doctors with a wide range of specialities, from endocrinology to genetics.

Although tricky medical cases have long been referred to the NIH, those patients have been directed to individual clinics with specific areas of expertise. This was unfortunate for patients who didn’t neatly fit into one of those categories. The new programme will allow consultants in diverse fields to share their expertise when dealing with puzzling individual patients.

Looking at the patients in this multidisciplinary way could finally provide a long-awaited diagnosis, the programme's backers hope.

Expert opinions

Although some expected culprits, from autoimmune disorders to rare mitochondrial diseases, will probably be found, other patients may shed light on completely unknown medical problems. The goal, says NIH director, Elias Zerhouni, “is two-pronged: to improve disease management for individual patients and to advance medical knowledge in general”.

“It gives me great hope that it’s going to be a place where we can confidently send people who in the past we might have had to turn away empty-handed. Mary Dunkle , National Organization for Rare Disorders”

The programme will be staffed by two nurse practitioners, funded by an annual grant of $280,000 from the NIH’s Office of Rare Diseases (ORD). But its impact could go beyond the 50–100 patients it will treat each year, says the programme's director, William Gahl, a rare-disease expert at the National Human Genome Research Institute.

Gahl hopes that the clinic will yield information for the rest of the medical profession. “The intellectual synergy of this is really significant,” he says. “It’s not something you can put a dollar figure on.”

Into the unknown

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.”

That doesn’t deter Genetti, who is pretty sure that she will qualify, once her wait for the programme's details is over. “As soon as I know on Monday, I’m going to call my neurologist and ask if he would like to refer me there.”

Dunkle is optimistic that the programme will help many others in the same boat: “It gives me great hope that it’s going to be a place where we can confidently send people who in the past we might have had to turn away empty-handed.”

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NIH Undiagnosed Diseases Programme

In Need of Diagnosis

National Organization for Rare Disorders

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Wadman, M. Health agency puts spotlight on mystery diseases. Nature (2008) doi:10.1038/news.2008.840

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