The phenotype-driven approach aims to identify structural variants and repeat expansions that can be missed by short-read sequencing, with early access planned by year-end.
GeneDx announced plans to expand its genome testing portfolio with long-read whole genome sequencing (lrWGS) to advance rare disease diagnosis. The company expects to launch an early access program for the sequencing service by the end of the year.
Long-read sequencing evaluates longer contiguous stretches of DNA to identify complex genetic variation, including certain structural variants and repeat expansions that may go undetected by conventional short-read sequencing. GeneDx plans to offer lrWGS upfront for eligible patients by combining advanced sequencing technologies, rich phenotypic data, and clinical expertise to reduce sequential testing and shorten diagnostic journeys.
“Long-read sequencing creates new opportunities to uncover complex genetic variation, but the true value lies in how those findings are interpreted and applied. By combining advanced sequencing with our deep genomic data and clinical expertise, we aim to equip clinicians with clearer insights to navigate complex cases, make more informed diagnostic decisions and get patients closer to answers,” says Linda Genen, MD, MPH, chief medical officer at GeneDx, in a release.
Targeting Complex Variation and Diagnostic Gaps
By leveraging data from its GeneDx Infinity platform alongside clinical interpretation experience, GeneDx will identify specific clinical scenarios where long-read sequencing provides the highest diagnostic yield. This targeted approach is designed to help clinical laboratories and medical teams close diagnostic gaps for complex genetic conditions.
Clinical researchers note that the technology could prove particularly valuable for under-represented patient cohorts.
“Long-read sequencing is providing us with substantially more powerful insights into the human genome than previously possible. We are especially interested in how this technology helps us to understand the cause of a patient’s rare disease when their genome is from a population that has been under-studied,” says John Greally, DMed, PhD, chief of genomics, professor of genetics and pediatrics at Albert Einstein College of Medicine, clinical geneticist at the Children’s Hospital at Montefiore, and co-director of the NY Center for Rare Diseases at Montefiore, in a release. “The future for rare disease diagnostics combines long-read sequencing with enhanced clinical information describing the patient, adding the expertise of clinicians to the solution, finally providing answers for patients and families living with these conditions.”
The upcoming rollout is part of the company’s broader initiative to expand its clinical genomics capabilities and accelerate time to diagnosis for rare disease patients.
