{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T20:28:38Z","timestamp":1788294518135,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T00:00:00Z","timestamp":1771286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T00:00:00Z","timestamp":1771286400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100006538","name":"School of Medicine, Vanderbilt University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006538","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023. Medical records were reviewed to measure primary outcomes: diagnostic yield, medical management changes, and anticipatory guidance updates. Descriptive analysis and formal comparisons (Welch's\n                    <jats:italic>t<\/jats:italic>\n                    \u2010test with post hoc power analysis, Fischer's exact test) were performed, with rES and rGS comparisons limited to 2023 due to test distribution. Of 95 patients, most (74.7% [71\/95]) were\u2009&lt;\u200912\u2009months old and admitted in neonatal (44.2% [42\/95]) or pediatric (29.5% [28\/95]) intensive care units. Common indications for rapid sequencing included multiple congenital anomalies (24.2% [23\/95]), neurological concerns (23.3% [22\/95]), and acute illness (16.8% [16\/95]). Mean turnaround time of testing significantly shortened for rES from 2021 (13.2 [SD\u2009=\u20095.9] days) to 2023 (8.1 [SD\u2009=\u20094.1] days) (\n                    <jats:italic>p<\/jats:italic>\n                    \u2010value\u2009=\u20090.018; power\u2009=\u20090.74). Diagnostic yield was 29.5% (28\/95) and did not significantly differ between rES (13.6% [3\/22]) and rGS (35.0% [7\/20]) (\n                    <jats:italic>p<\/jats:italic>\n                    \u2010value\u2009=\u20090.15). Sequencing led to medical management changes (86.0% [74\/86]) and anticipatory guidance updates (41.4% [39\/95]) with similar rates observed in diagnostic and non\u2010diagnostic tests. Our findings suggest rES or rGS implementation may influence diagnosis and care strategies in critically ill patients.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70083","type":"journal-article","created":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T07:46:34Z","timestamp":1771400794000},"page":"1337-1346","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3130-216X","authenticated-orcid":false,"given":"Cecilia M.","family":"Kessler","sequence":"first","affiliation":[{"name":"Vanderbilt University School of Medicine  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce A.","family":"Schuler","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics Medicines, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2444-0951","authenticated-orcid":false,"given":"Elizabeth A.","family":"Jasper","sequence":"additional","affiliation":[{"name":"Division of Quantitative and Clinical Sciences, Department of Obstetrics and Gynecology Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Talbert","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics Medicines, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Duncan","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mackenzie","family":"Mosera","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics Medicines, Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.41"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41372-024-02181-1"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41590-018-0295-8"},{"issue":"5","key":"e_1_2_10_5_1","first-page":"824","article-title":"Rapid Genomic Testing in Intensive Care: Health Professionals' Perspectives on Ethical Challenges","volume":"10","author":"Arkell K.","year":"2023","journal-title":"Children 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