Internet Can Help People With Undiagnosed Rare Diseases, but Racial, Wealth Gaps Exist

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The study found that 24% of those who contacted a center specializing in rare kidney diseases would have gone undiagnosed if they had not reached out directly via the center's website.

The internet is a powerful tool for families looking to make a self-diagnosis of rare diseases, according to a recently published study, which used the example of several rare inherited kidney diseases to demonstrate its effectiveness in helping patients find a correct diagnosis. But the study also highlighted certain aspects of disparities in care, as those making self-referrals were largely white and had high income.

Researchers 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 functioning.

Among the referrals, 40% were from healthcare providers at academic medical centers, 33% were from nonacademic practitioners, and 27% were self-referrals from individuals or family members with concerns about, but no diagnosis of, inherited kidney disease. Those individuals and family members contacted the center directly through its website without guidance or assistance from other medical professionals. Genetic testing results were positive (indicating the presence of ADTKD) in 27% of the cases referred by academic centers, 25% of those referred by nonacademic providers, and 24% of those who contacted the center directly.

The 24% represented 42 families and 116 individuals who otherwise would have gone undiagnosed if they had not contacted the center, Anthony J. Bleyer, MD, professor of nephrology at the medical school, said in a statement.


"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 Bleyer, the study's lead author. "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."

One of the study's limitations is that it examined data from only 1 center specializing in a single rare disorder.

In addition, the study highlights the consequences of the digital divide as well as racial and socioeconomic disparities in healthcare. Virtually all of those (99%) contacting the center directly were white, and had significantly higher income than the rest of the United States. The median income of the zip codes from the site of referrals was $77,316, compared with the 2010 US median household income of $49,445.34

While there is no evidence to suggest that the variants causing ADTKD would create a difference in prevalence among races, there were no self referrals from black patients, and few individuals from non-English speaking countries, the researchers wrote.

Even though kidney disease is much more prevalent in blacks, the researchers noted that they are more likely to have misgivings about research and also be less likely to trust the medical profession generally. Since black patients were less likely to be referred by their providers, decreased access to providers may also be a factor. In addition, the high prevalence of chronic kidney disease in blacks may have contributed to decreased consideration of a genetic diagnosis.

Besides providing an improved interpersonal experience with patients, screening genetic disorders in patients in dialysis centers would enhance access to individuals across the digital divide, the researchers reported.

The authors noted the general difficulties in obtaining a correct diagnosis for a rare disease. Primary care physicians have time constraints, a lack of specific knowledge, a lack of interest, or “a belief that securing the diagnosis will not alter the patient’s treatment plan.” Specialists, too, may stop searching for answers when nothing turns up.

Centers should consider improving direct access to families if they work in rare disease areas, the authors said.


Bleyer AJ, Kidd K, Robins V, et al. Outcomes of patient self-referral for the diagnosis of several rare inheritied kidney diseases [published online July 24, 2019]. Genet. Med. doi: 10.1038/s41436-019-0617-8.