O43: High diagnostic yield, unequal access, and emerging guidelines in adult genetics: Results and insights from an 8-year, 7,000-patient analysis

Genetics in Medicine Open 2026 Open access

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Authors: Theodore Drivas, Jessica Gold, Yehuda Elkaim, STEPHANIE ASHER, Anna C. Raper, Zoe C. Bogus, Courtney Condit, Isaac Elysee, Emma Kennedy, Laura Hennessy, Teres Chai, Ala Streater
+12 more Stacey Cohen, Brielle N. Gehringer, Shannon Grat, Lauren C. Briere, David A. Sweetser, Colleen Morse Kripke, Anurag Verman, Hojjat Salmasian, Latrice Landry, Mersedeh Rohanizadegan, Katherine Nathanson, Staci Kallish
DOI: 10.1016/j.gimo.2026.104333
Cited by: 0

Abstract

Despite the centrality of genomic medicine to precision health, remarkably little is known about the landscape of genetic evaluation and testing in adult patients. Most published data derive from pediatric or disease-specific contexts, leaving unanswered how genomic testing is deployed and performs in general adult practice. Here, leveraging data from one of the nation’s largest adult genetics programs, we characterize the patients evaluated, tests performed, outcomes achieved, and factors that shape access to genomic care.

Fields of Study & Subjects

Genomics and Rare Diseases Genetic Associations and Epidemiology Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104333–104333
Publication date
1 January 2026
Language
EN