What it means to be undiagnosed

An estimated 25-30 million Americans suffer from a rare disorder in the United States alone, according to the National Institutes of Health (NIH). Often, these individuals go for long periods of time—sometimes many years—without a diagnosis. Patients are considered to be “undiagnosed” if an explanation for their symptoms cannot be found over a reasonable period of time, despite repeated examinations. Reasons for being undiagnosed include:

  • The proper testing has not been conducted.
  • The tests that have been done were not performed or interpreted correctly.
  • The right specialist has not been found.
  • The patient has a known condition that is presenting in an unusual way.
  • The illness has not yet been understood or named.

The undiagnosed population has the potential to play a critical role in medical research. Historically, investigating medical “mysteries” has led to breakthroughs in treatment. For example, research into a rare genetic form of high cholesterol led to the development of statin drugs.

The NIH Undiagnosed Diseases Network

Boston Children’s Hospital is fortunate to be part of the NIH’s Undiagnosed Diseases Network (UDN), becoming one of six new clinical sites around the country in partnership with Brigham and Women’s Hospital and Massachusetts General Hospital. The UDN is part of the NIH’s larger Undiagnosed Diseases Program, described in this 2010 CNN report:

CLARITY co-organizer Isaac Kohane, MD, PhD, Professor of Pediatrics at Boston Children’s Hospital and co-director of Harvard Medical School’s Center for Biomedical Informatics (CBMI), is principal investigator of a coordinating center overseeing the national UDN network.

The Boston UDN site, known as the Harvard Center for Integrated Approaches to Undiagnosed Diseases, is receiving a $7.19 million, four-year grant from the NIH. In its first year, the Center’s three hospitals will enroll and care for 12 patients, both children and adults, increasing to 50 per year by the summer of 2017. A team of experts will converge on each patient, providing a detailed clinical evaluation, cutting-edge genetic and genomic analysis, environmental exposure analysis, proteomics, metabolomics, systems biology and network medicine analysis.

Learn more about the UDN.