Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes

• Published in: American journal of medical genetics. Part A Vol. 182; no. 7; pp. 1601 - 1607
• Main Authors: Kosaki, Rika, Kubota, Masaya, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.07.2020; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Bioinformatics; Brain - diagnostic imaging; Child, Preschool; Cohort Studies; Computational Biology; cost analysis; Cost-Benefit Analysis; Diagnosis; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - economics; Genetic Diseases, Inborn - genetics; Genetic disorders; Genetic screening; Genetic Testing - economics; Genetic Testing - methods; Genomes; Humans; Infant; Japan; Magnetic Resonance Imaging; medical exome analysis; outcomes; Patients; Tertiary Care Centers; Whole Exome Sequencing - economics; Whole Exome Sequencing - methods; Japan; cost analysis; medical exome analysis; outcomes

The utility of whole exome analysis has been extensively demonstrated in research settings, but its clinical utility as a first‐tier genetic test has not been well documented from diagnostic and health economic standpoints in real‐life clinical settings. We performed medical exome analyses focusing...