Genomic Sequencing Identifies Actionable Findings to Guide Rare Disease Management

Rare disease diagnosis can be challenging when patients remain without definitive answers and clinicians need information that can guide management beyond the initial genetic finding. Genomic sequencing is increasingly being used not only to establish diagnoses but also to connect results with decisions involving treatment, surveillance, acute management, and long-term care planning. Building on this broader role, new findings show how exome and genome sequencing can identify medically actionable opportunities across a large real-world diagnostic cohort.

GeneDx announced research evaluating exome and genome sequencing results from more than 300,000 patients, with findings being presented at the National Society of Genetic Counselors 2026 Annual Conference, held November 11–14. The work examines the medical actionability of pathogenic or likely pathogenic findings in a large real-world diagnostic cohort. GeneDx is presenting the research across four scientific posters and three educational sessions focused on genomic data, advanced technology, and clinical expertise.

The sequencing analysis focused on identifying exome and genome findings that could inform clinical decision-making. Among patients with pathogenic or likely pathogenic findings, 62%, representing 62,459 of 101,390 patients, had results associated with opportunities to guide medical management. These opportunities included treatment, disease surveillance, acute management, and long-term care planning.

Additional GeneDx research being presented includes analyses of GeneMatcher-facilitated collaborations, diagnostic yield in a cohort of more than 300,000 patients, and medical actionability within the same large real-world diagnostic population. One poster also highlights the My46 digital engagement platform for genomic counseling and consent in neonatal intensive care settings and other clinical environments.

Educational sessions will address genomic evidence, AI-powered tools for clinical interpretation, and the use of artificial intelligence and machine learning to support gene curation and variant classification. The sessions also emphasize the continued role of clinical judgment and human oversight when incorporating these technologies into genomic interpretation.

“A genetic diagnosis has the power to change the course of care. Our research reinforces the clinical impact of genomic sequencing, not only in delivering answers, but in identifying potential opportunities to inform treatment and change medical management. By equipping genetic counselors with the data, technology and expertise to translate these insights into action, we can help more patients and families realize the full value of genomic medicine,” said Linda Genen, MD, MPH, Chief Medical Officer of GeneDx.

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