P611: Cost-effectiveness and diagnostic odyssey reduction of first-line genome sequencing in suspected genetic disorders: A systematic review and meta-analysis

Genetics in Medicine Open 2026 Open access

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Authors: Maria Inez Dacoregio, Heloísa Augusta Castralli, Marcella Cardoso Allegro, Carol Piai, Cainã Gonçalves Rodrigues, M. Riboldi, Alexandre Chaves Fernandes, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim, Paulo Victor Zattar Ribeiro
DOI: 10.1016/j.gimo.2026.104101
Cited by: 0

Abstract

Patients with suspected genetic diseases frequently undergo prolonged diagnostic odysseys involving serial testing, delayed recognition of treatable conditions, and increased healthcare utilization. Genome sequencing (GS), including rapid GS (rGS), has emerged as a comprehensive first-line test capable of detecting SNVs, CNVs, structural variants, and non-coding pathogenic alterations in a single assay. Although GS has demonstrated clinical benefits, uncertainty persists regarding its comparative value relative to standard-of-care (SOC), exome sequencing (ES), and newer streamlined ES pathways.

Fields of Study & Subjects

Genomics and Rare Diseases Health Systems Economic Evaluations Quality of Life Connective tissue disorders research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104101–104101
Publication date
1 January 2026
Language
EN