GeneDx Expands Diagnostic Leadership with Long-Read Genome Sequencing, Advancing Rare Disease Diagnosis

John Greally, Chief of genomics and professor of genetics and pediatrics at Albert Einstein College of Medicine; clinical geneticist at CHAM; co-director of the NY Center for Rare Diseases at Montefiore

“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.”

John Greally, Chief of genomics and professor of genetics and pediatrics at Albert Einstein College of Medicine; clinical geneticist at CHAM; co-director of the NY Center for Rare Diseases at Montefiore

“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.”

Linda Genen, Chief Medical Officer, GeneDx

“Every advancement in genomic medicine should bring patients closer to answers”

Linda Genen, Chief Medical Officer, GeneDx

“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.”