In the process, they may be subject to incorrect, ineffective or even harmful treatments.
Danielle Carnival, CEO of the Undiagnosed Diseases Network Foundation, says that thanks to advanced genetic testing we are now understanding much more about rare and ultra-rare diseases. (Image credit: Danielle Carnival)
Emerging data suggests that genetic testing could speed the diagnosis of rare conditions, which each affect fewer than 200,000 people in the United States. If employed widely, such testing could help diagnose the majority of rare diseases, most of which are genetic in cause, experts told Live Science.
"And then hopefully, that turns into the ability to treat them," she told Live Science.
Although each individual disease affects relatively few people in the population, collectively, they are not rare. In the U.S. alone, it is estimated that there are more than 30 million people living with a rare or undiagnosed disease.
Kelly Kemper, mother of a child with an undiagnosed disease
About 80% of rare diseases are genetic in origin, while the other 20% are caused by environmental factors, such as a toxin exposure or viral infection, said Emily Glanton, a genetic counselor and associate director at the Undiagnosed Diseases Network Data Management Coordinating Center, a central hub for the National Institutes of Health's Undiagnosed Diseases Network.
Emily Glanton, a genetic counselor and associate director of Undiagnosed Diseases Network Data Management Coordinating Center, estimates that 80% of rare diseases are genetic in origin. (Image credit: Emily Glanton)
"We certainly don't have a way to know [exactly] how many people have a disease that we haven't even discovered the name or cause of," Dr. Jacqueline Harris, a pediatric neurologist and director of Kennedy Krieger's Epigenetics Clinic in Baltimore, told Live Science.
"A lot of times what happens with undiagnosed patients is that they end up with a little bit of a diagnosis. And I always say, it's like the umbrella is missing. We've got lots of little rain hats or visors on, and those are the diagnoses," said Kelly Kemper, whose son has an undiagnosed disease and who is a member of the UDNF patient advisory council. "But we don't have something overall that says: 'Okay, this is what it is.'"
Isolating experience
Kemper, for instance, has spent the last five years looking for an explanation for her son's rare form of dystonia, which causes muscle spasms. He still doesn't have a diagnosis.
Negative test results can be a relief, but it can be frustrating when doctors and specialists can't explain what's going on. Hearing the phrase "your labs look normal" often invalidates the symptoms a patient is experiencing, she added.
Danielle Carnival, CEO Undiagnosed Diseases Network Foundation
"There was, like, a little bit of hope that you're gonna see the specialist and then they decline the appointment," Kemper said. "That's a hard one."
The American College of Medical Genetics and Genomics (ACMGG) recommends genetic testing for patients with congenital anomalies — meaning birth defects — before age 1, as well as those who have any developmental delay or intellectual disability that was recognized in childhood. ACMGG recommends both exome sequencing, in which all the genes that code for proteins are examined, amounting to approximately 2% of our DNA, or whole genome sequencing, in which every letter of DNA is sequenced, as first-line genetic testing, Glanton told Live Science.
Genome and exome sequencing are recommended as first-line testing for people who have congenital anomalies or who have developmental delays that were first recognized in childhood. (Image credit: matejmo/Getty Images)To help solve some of these medical mysteries, research groups such as the Undiagnosed Diseases Network have partnered with 24 clinical centers across the country to test new diagnostic technologies.
Additionally, the network also frequently utilized trio genetic testing, in which both patients and their biological parents are tested to see which gene variants they carry.
Limits of testing
But genetic testing isn't a silver bullet. After all, the network found diagnoses for less than one-third of the patients whose cases they evaluated.
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"We don't want to stop at a diagnosis. We really want to build a bridge for folks to be on a pathway to get a treatment that works for them," Carnival told Live Science. That wouldn't just benefit the patients themselves, it may also provide benefits for the wider community, she added.
Editor's Note: This article was produced as part of the Dalla Lana Fellowship in Journalism and Health Impact program at the University of Toronto.
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