Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic 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...
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Published in | American journal of medical genetics. Part A Vol. 182; no. 7; pp. 1601 - 1607 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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Hoboken, USA
John Wiley & Sons, Inc
01.07.2020
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Abstract | 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. |
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AbstractList | 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. |
Author | Uehara, Tomoko Takenouchi, Toshiki Kosaki, Rika Kubota, Masaya Suzuki, Hisato Kosaki, Kenjiro |
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Cites_doi | 10.1111/cge.12579 10.1038/gim.2017.247 10.1148/radiol.10091124 10.1002/hec.584 10.1007/s00439-013-1358-4 10.1038/gim.2015.30 10.1038/nrg.2017.108 10.1093/bioinformatics/btt314 10.1038/s41525-018-0053-8 10.1001/jamapediatrics.2017.3438 10.1093/nar/gkv1222 10.1038/hgv.2015.50 10.4161/fly.19695 10.1038/nprot.2016.150 10.1073/pnas.1302575110 10.1038/gim.2016.221 10.1111/cge.13102 10.1186/s40348-016-0050-x 10.1093/bioinformatics/btu401 10.1093/bioinformatics/btr711 10.1101/gr.107524.110 10.1038/gim.2017.47 10.1038/s41525-017-0017-4 10.1093/bioinformatics/btr667 10.1371/journal.pone.0046688 10.1093/bioinformatics/bts503 10.1001/jamapediatrics.2017.1755 10.1038/s41436-018-0024-6 10.1093/bioinformatics/btp324 10.1016/S0140-6736(08)61393-8 10.1038/nature19057 10.1373/clinchem.2016.258632 10.1097/MLR.0b013e3182408812 10.1093/bioinformatics/bts271 |
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SubjectTerms | 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 |
Title | Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes |
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