The internet has impacted virtually every aspect of our lives, including the way we respond to health problems. People can find answers and access a tremendous amount of information, but that has good and bad aspects, especially since we have little to no control over how reliable that information is. But new research has shown that the internet has helped some people who are living with mysterious health conditions find a diagnosis. The study has been reported in Genetics in Medicine by scientists at the Wake Forest School of Medicine.
"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."
While many genetic diseases result from a mutation that a person inherits from a parent, they may also arise de novo - on their own as well. With no family history of disease to refer to, diagnosis can be extremely challenging.
In this research, the scientists assessed 665 patient referrals made between 1996 and 2017 to a Wake Forest research center that focuses on a group of genetic conditions called autosomal dominant tubulointerstitial kidney disease (ADTKD), in which the kidneys gradually cease to function.
Medical centers and health care providers made 40 percent of the referrals, 33 percent were made by non-academic health practitioners, and 27 percent were referred by concerned friends or family members or did so themselves, directly from the center’s website and without the influence of a health care provider.
"The similar percentages of positive results from the three types of referrals indicate that actively pursuing self-diagnosis using the internet can be successful," Bleyer said. "One-quarter of the families found to have ADTKD were diagnosed as result of direct contact with the center through the internet, which represents 42 families and 116 individuals who otherwise would have gone undiagnosed if a family member had not contacted us."
While this research focused on one kind of disease and one specialty center with a narrow range of patients, Bleyer suggested that it shows how important the internet can be for patients with rare disorders. "The availability of focused information about rare disorders on the internet may lead to increased diagnoses of these conditions," he said. "Centers interested in rare disorders should consider improving their online accessibility to the public."
Learn more about a clinical center - the Stanford Center for Undiagnosed Disease that tries to find a diagnosis for people with unexplained, serious health problems - from the video.