The expanded testing capabilities leverage long-read sequencing technology to detect disorders such as Fragile X syndrome, adult neurological conditions, certain ataxias, and more.
MyOme has expanded its rare disease test to include tandem repeat expansions and mitochondrial genome analyses, both now included as standard components of the company’s whole genome sequencing platform at no additional cost to patients or providers.
The expanded testing capabilities leverage long-read sequencing technology to detect disorders such as Fragile X syndrome, adult neurological conditions, and certain ataxias, as well as mitochondrial variants that can affect energy production and multiple organ systems.
The enhancement addresses a significant clinical challenge, as rare diseases affect an estimated 1 in 10 people worldwide, with families often waiting years and undergoing multiple rounds of testing before receiving answers. This diagnostic odyssey costs the US healthcare system approximately $500 billion per year and the US economy roughly $1 trillion including families’ lost productivity, according to the company.
“We’ve long believed that patients shouldn’t be limited to one-off tests or narrow panels. With a single genome from a single sample, we can now deliver insights that deepen with every scientific advance—empowering patients and providers in a way narrower testing simply cannot,” says Dr Akash Kumar, chief medical officer at MyOme, in a release.
Timing Aligns With Updated Clinical Guidelines
The expansion comes following updated guidance from the American Academy of Pediatrics (APP) in June, which now recommends whole exome or genome sequencing as a first-tier test for diagnosing children with unexplained global developmental delay or intellectual disability.
“With the AAP now recommending genome sequencing as a first-tier test, our vision is becoming the new standard of care. By adding tandem repeat and mitochondrial analysis to MyOme’s whole genome platform, we can deliver an even more starting point for pediatricians and families—efficiently delivering answers that improve patient outcomes,” says Kumar in a release.
Tandem repeat expansions are DNA sequences that can cause disease when they expand beyond normal limits, while mitochondrial genome analysis examines the DNA within cellular powerhouses that can affect multiple organ systems when altered.
Industry Context
Rare diseases affect more than 300 million people worldwide and are often severe, chronic, and life-threatening. Approximately 80% have a genetic origin, yet many patients endure an average of 5 to 7 years before receiving an accurate diagnosis.
MyOme operates as a CLIA-certified and CAP-certified clinical laboratory based in Menlo Park, California. The company will present its expanded testing capabilities at the American Academy of Pediatrics National Conference at booth 429.
The expanded rare disease test is available now through MyOme’s existing clinical laboratory operations.
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