Chronically Ill but Undiagnosed? There May Be an Answer


Health care can be especially challenging for people who remain undiagnosed despite experiencing chronic symptoms and undergoing extensive diagnostic testing and medical evaluations. Research published in the New England Journal of Medicine takes a closer look at this problem through the Undiagnosed Diseases Network (UDN), a program funded by the National Institutes of Health (NIH) to address it.

The Undiagnosed Diseases Network was established in 2014 and consists of several clinical sites, various centers, and an online patient portal. For this study, researchers evaluated 1,519 patients referred to the UDN during a 20-month period, 601 of whom were accepted. The researchers identified 31 new syndromes and provided diagnoses to 35 percent of the study participants, which affected their medical care in a number of ways.

These diagnoses led to:

  • A change in therapy for 21 percent of study participants
  • Another change, such as less additional diagnostic testing, in 37 percent
  • Specific genetic counseling in 36 percent

Overall, eight patients in the study gained a positive treatment effect, six experienced an unclear or negative effect, and an outcome could not be determined for 10 patients. Changes in therapy varied from medications, vitamins, and coenzymes to organ transplant.

Sourced from: New England Journal of Medicine