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

Rika Kosaki, Masaya Kubota, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)


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 on a clinically interpretable portion of the genome (4,813 genes) as a first-tier genetic test for 360 consecutive patients visiting a genetics clinic at a tertiary children's hospital in Japan, over a 3-year period. Bioinformatics analyses were conducted using standard software. A molecular diagnosis was made in 171 patients involving a total of 107 causative genes. Among these 107 causative genes, 57 genes were classified as genes with potential organ-specific interventions and management strategies. Clinically relevant results were obtained in 26% of the total cohort and 54% of the patients with a definitive molecular diagnosis. Performing the medical exome analysis at the time of the initial visit to the tertiary center, rather than after visits to pertinent specialists, brain MRI examination, and G-banded chromosome testing, would have reduced the financial cost by 197 euros according to retrospective calculation under multiple assumption. The present study demonstrated a high diagnostic yield (47.5%) for singleton medical exome analysis as a first-tier test in a real-life setting. Medical exome analysis yielded clinically relevant information in a quarter of the total patient cohort. The application of genomic testing during the initial visit to a tertiary medical center could be a rational approach to the diagnosis of patients with suspected genetic disorders.

Original languageEnglish
Pages (from-to)1601-1607
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
Publication statusPublished - 2020 Jul 1


  • cost analysis
  • medical exome analysis
  • outcomes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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