Adult outcomes of clinically relevant genomic disorders: A systematic review and meta-analysis

Genetics in Medicine 2026 Open access

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Authors: Sarah L. Malecki, David DArienzo, Erica Wennberg, Emily Ana Butler, Nimit Vediya, Manav V. Vyas, Vanda McNiven, Jessie Cunningham, Thérèse A. Stukel, Amol A. Verma, Eyal Cohen, Anne S. Bassett
DOI: 10.1016/j.gim.2025.101632
Cited by: 1
References: 89

Abstract

PURPOSE: Genomic disorders comprise a major source of human disease with survival into adulthood for most individuals, but data on adult outcomes are limited. METHODS: We conducted a formal search to identify studies of 14 clinically relevant, molecularly confirmed deletion syndromes with ≥5 adults reporting on prevalence of cardiovascular risk and other outcomes. Outcomes were pooled across deletion syndromes and by syndrome, using random-effects models. RESULTS: Of 1352 studies screened, 53 reported on nonoverlapping samples of 13 deletion syndromes. Estimated pooled prevalences, at age

Fields of Study & Subjects

Genomics and Rare Diseases Genetic Associations and Epidemiology Cardiomyopathy and Myosin Studies

Publication details

Journal / source
Genetics in Medicine
Publisher
Elsevier BV
Volume
28
Issue
2
Pages
101632–101632
Publication date
15 January 2026
Language
EN