Rare inherited diseases may sometimes get diagnosed only because patients or their family members directly refer themselves to an academic medical center based on information they found on the Internet, findings from a new study suggest.

The study examined referral patterns at Wake Forest School of Medicine in Winston-Salem, North Carolina, for suspected cases of autosomal dominant tubulointerstitial kidney disease (ADTKD), which results from 3 rare genetic conditions. Over a 21-year period, the center, which has a research group that specializes in ADTKD, received 665 referrals, of which 176 (27%) were family self-referrals. Forty-two (24%) of these families underwent genetic testing that led to ADTKD diagnoses, according to a team led by Anthony J. Bleyer, MD, Professor of Nephrology at Wake Forest, where he heads the inherited kidney disease research team. These cases would have gone undiagnosed had the families not self-referred.

“The Internet provides the patient with a rare disorder the opportunity to find the rare specialist interested in this disorder,” Dr Bleyer and his collaborators stated in a paper published in Genetics in Medicine.

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In a discussion of barriers to the diagnosis of rare disorders, the investigators noted that patients’ primary care physicians often are unaware of the correct diagnosis and the presentation of a rare disorder.

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“If patients suspect a rare disorder that is undiagnosed by their physicians, actively pursuing self-diagnosis using the Internet can be successful,” Dr Bleyer and his coauthors concluded. “Centers interested in rare disorders should consider improving direct access to families.”

“Sometimes nephrologists feel that there are no treatments for genetic diseases and do not pursue a diagnosis,” Dr Bleyer told Renal & Urology News. “However, patients desperately want to know why kidney disease is so prevalent in their family. Finding a diagnosis also helps identify family members who are potential living donors. While physicians can diagnose rare genetic disorders, and patients can work on their own to do the same, the best results come when both physicians and patients work together to make a diagnosis.”

[Editor’s note: For families with undiagnosed autosomal dominant tubulointerstitial kidney disease, free genetic testing is available at Wake Forest in conjunction with the Broad Institute of Harvard Medical School and Massachusetts Institute of Techncology.  Contact [email protected] for information.


Bleyer AJ, Kidd K, Robins V, et al. Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases. Genet Med. 2019. doi: 10.1038/s41436-019-0617-8