The Internet provides a way to the patients with unrecognized rare diseases, according to a recent study published in the journal “Genetics in Medicine”, which used the example of a rare inherited disease ADTKD to demonstrate the potency of the internet to help diagnose patients with mysterious diseases.
“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.
In the study, researchers investigated 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 diseases that affects the tubules of the kidney and gradually causes the kidney to stop functioning. Of all the referrals, 40% were from healthcare providers at academic medical centers, 33% were from nonacademic health care providers, and 27% were self-referrals from individuals or family members, who contacted the website directly without the guidance of any health care provider.
27% of the referrals from the academic center, 25% from the non-academic center and 24% self-referrals showed positive results for genetic testing; indicating the presence of ADTKD. The study encapsulates the idea that 25% of the self-referrals who represented 42 families and 116 individuals would have gone unrecognized if they had not contacted the website directly.
“The similar percentages of positive results from the three types of referrals indicate that actively pursuing self-diagnosis using the internet can be successful,” Dr. Anthony J. Bleyer, said in a statement.
“One-quarter of the families found to have ADTKD were diagnosed as a 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.”
Researchers explained the importance of the internet in recognizing the rare diseases as it gives its users access to unlimited valuable data leading to more diagnosis. Researchers also emphasize that centers specializing in rare disorders should make online access to the public, their prior concern.
Sabeeka Zafar is a Bioinformatician-to-be with a passion to be a significant part of the great revolution in the near future in the field of Bioinformatics specifically and that of Science generally. Sabeeka is a social activist, enjoys working with people for the betterment of the society and loves to read and to write.