Internet can be valuable tool for people with undiagnosed rare disorders

Co-investigators Anthony Bleyer, M.D. (left), Wake Forest School of Medicine and Stanislav Kmoch, Ph.D., First Faculty of Medicine, Charles University, Prague, Czech Republic use Skype to effectively collaborate on the research. The use of Skype, express shipping, and the internet played a key role in bringing scientists, clinicians, and patients together virtually. Credit: Wake Forest Baptist Health

The internet can serve as a pathway to diagnosis and care for people who suspect they have a rare condition that has not been identified by their physicians, according to a study by researchers at Wake Forest School of Medicine, part of Wake Forest Baptist Health.

“Rare diseases, especially inherited ones, are often not correctly diagnosed by primary care physicians and even specialists because they are so uncommon, and a provider who does have expertise may be located very far from the patient,” said the study’s lead author, Anthony J. Bleyer, M.D., professor of nephrology at the medical school. “While online searches can frequently fail to provide relevant or correct health information, the internet does offer those with rare disorders a way to find the rare specialists interested in a particular condition and obtain accurate information about it.”

The study, published in the current issue of the Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics, analyzed 665 referrals made from 1996 to 2017 to a Wake Forest School of Medicine research center specializing in autosomal dominant tubulointerstitial kidney disease (ADTKD), a group of rare inherited conditions that gradually cause kidneys to stop working.

Among the referrals, 40 percent were from health care providersat academic medical centers, 33 percent were from non-academic practi