The internet may become a valuable tool to help diagnose people with rare disorders, a new study says.
A team of researchers at the Wake Forest Baptist Medical Center found that information found on the internet can serve as good means to diagnose individuals who suspect they have a rare disorder that has not been identified by their doctors.
In the study, published in the journal Genetics in Medicine, the researchers wanted to evaluate self-referral from the internet for genetic diagnosis of many rare inherited kidney 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," Dr. Anthony J. Bleyer, professor of nephrology, said.
"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,” he added.
To aive at their findings, the investigators studied 664 referrals made between 1996 and 2017, in the Wake Forest School of Medicine research center that specializes in autosomal dominant tubulointerstitial kidney disease (ADTKD).
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of diseases that affect the tubules of the kidney, usually inherited in an autosomal dominant manner. This means that the parents have a 50 percent chance of passing the condition to their children.
In the long run, the condition leads to chronic kidney disease, which later affects the function of the kidneys. In time, the kidneys stop working.
Of the patients with ADTKD, 40 percent of the referrals were made by health care providers at academic medical centers, 27 percent were self-referrals from the patient or family members, and 33 percent were made by non-academic health providers.
The self-referrals were individuals or family members who directed their concerns through the center website without assistance from a health care provider. When they compared the results of genetic tests, they found that 27 percent of the cases referred by academic centers were positive or showed the presence of ADTKD, 25 percent of those referred from non-academic centers tested positive, and 24 percent of those who personally reached out the center tested positive, too.
"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 explained.
"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,” he added.
However, the researchers emphasized that the study is limited since it only focused on one rare disorder. The research shows why the internet is an important reference or resource for individuals with rare conditions, since valuable information and data about rare disorders are accessible and available on the web, leading more diagnoses. They recommend that centers specializing in rare disorders should study putting up a website so patients can easily contact them.
The National Institute of Diabetes and Digestive and Kidney Diseases of the National Institutes of Health supported the study.
ADTKD is a rare condition that affects only a small number of people. In the United States alone, approximately 500 families have the condition, and the prevalence in other countries is more likely to be similar. The condition runs in families, and underreporting is common due mostly to incorrect diagnoses.
The main signs and symptoms of ADTKD manifest gradually but typically appear at an average age of 28 years old. Some of the manifestations include polyuria, anemia, metabolic acidosis, uremia, and progressive renal insufficiency.
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