MyOme, a Menlo Park leader in clinical whole genome analysis, has announced a significant upgrade to its rare disease testing platform, now offering tandem repeat expansion (TRE) and mitochondrial genome analysis as standard features. According to Pharmabiz.com these new capabilities, driven by cutting-edge long-read sequencing technology, provide deeper genetic insights at no extra effort or cost for patients and healthcare providers.
Rare diseases impact over 300 million people worldwide, with the majority having a genetic root. For affected families, the journey to a definitive diagnosis can be long and stressful, often taking years and involving repeated rounds of inconclusive testing. This prolonged search not only delays treatment but also places a heavy financial strain on families and the healthcare system—costing the U.S. alone hundreds of billions annually.
With its enhanced test, MyOme now enables the identification of complex genetic disorders such as Fragile X syndrome, certain adult-onset neurological diseases, specific ataxias, and mitochondrial conditions that influence energy production and multi-organ health. The inclusion of TREs and mitochondrial genome analysis allows for detection of mutations that are frequently missed by traditional genetic tests.
This innovation comes on the heels of an important shift in pediatric care. The American Academy of Pediatrics (AAP) recently recommended that whole genome or exome sequencing be the first step for children presenting with unexplained developmental delays or intellectual disabilities. Dr. Akash Kumar, Chief Medical Officer of MyOme, highlighted the impact of this change: “With comprehensive genome analysis, a single sample can unlock answers that grow as science progresses. Our platform now provides a broader, future-proof foundation for diagnosis and care.”
At the upcoming AAP National Conference, MyOme will showcase these advancements and share how their genome-first approach supports more accurate, efficient, and proactive pediatric care. Pediatricians and other attendees are encouraged to visit and learn about the benefits of integrating advanced genomics into routine diagnostics.
MyOme’s expertise in polygenic risk assessment and AI-powered data interpretation means that each test not only helps solve present medical mysteries but also supports ongoing health management. By combining genetic and clinical information, MyOme helps clinicians and families anticipate, prevent, or better manage diseases throughout life.
Certified by both the Clinical Laboratory Improvement Amendments and the College of American Pathologists, MyOme’s platform is committed to the highest standards of accuracy and reliability. The company’s expanded rare disease test represents a pivotal move toward more accessible and comprehensive genomic medicine, aiming to bring faster answers and better care to families facing rare and complex diseases.
