Undiagnosed diseases are focus of new NIH programme

Patients who have confounded doctors with signs and symptoms that elude diagnosis are to be offered the expertise of hundreds of doctors in a unique programme from the US National Institutes of Health.

“Physicians deal with about 6600 conditions and 6000 of them are quite rare. Even common diseases have many subtypes,” the institutes’ director Elias A Zerhouni said during a telephone news conference with reporters earlier this week. He said it was not surprising that many can go undiagnosed for years.

The programme aims to combine the revolution in tools and information at the molecular level with the expertise of the 1600 doctors at the NIH Clinical Center “to assist patients around the country and their doctors.” It will add to the knowledge base by creating a phenotype atlas of disease.

“We are doing this now because of the advances that have been made over the last five years at the fundamental level. We have many more biologic markers, the significance of which is not always understood.” Dr Zerhouni said that for the first time his organisation was going to apply these sophisticated laboratory tests to human diseases on a large scale.

Under the current system of research at the NIH Clinical Center, patients with challenging conditions “are triaged to a specific institute or protocol programme, and are assessed by one team,” said John I Gallin, director of the centre. Participants in the new programme “will be assessed by a large spectrum of teams.”

Candidate patients must be referred by a healthcare provider and will have to submit exhaustive medical records that will be reviewed by a multidisciplinary team of 25 senior doctors. Applicants will receive an answer in about six weeks.

Those who are accepted into the programme will travel to the centre for an evaluation, which is likely to take at least a week. They may be asked to return. All travel, lodging, and medical expenses are provided free. Although non-US residents can participate, the programme can cover travel expenses only within the United States.

“We have developed a stringent referral process to ensure this programme deals with those cases that have truly confounded medical experts,” said William Gahl, clinical director of the National Human Genome Research Institute. “Our focus is strictly on conditions that have not been diagnosed.”

Only about 100 patients will be accepted in the first year. Dr Gallin said they have the capacity for substantial expansion of the new programme. “It really depends on how much interest there is and how much value we think this adds to the [overall] research programme.”