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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

26 Feb 2024

Abstract excerpt

Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical Genome Initiative conducted a literature review to identify appropriate clinical indications for GS. Studies published from January 2011 to August 2022 that reported on the...

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Genomics and Rare Diseases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38409289
DOI: 10.1038/s41525-024-00396-x

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