{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T20:17:19Z","timestamp":1769977039823,"version":"3.49.0"},"reference-count":47,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"8","content-domain":{"domain":["ascopubs.org"],"crossmark-restriction":true},"short-container-title":["JCO Precis Oncol"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:sec>\n            <jats:title>PURPOSE<\/jats:title>\n            <jats:p>Genomic sequencing (GS) is increasingly used to improve diagnoses and inform targeted therapies. GS can also be used to identify the 10% of cancer patients with an underlying hereditary cancer syndrome (HCS), who can benefit from surveillance and preventive surgery that reduce morbidity\/mortality. However, the evidence on clinical utility of GS for HCS is limited: we aimed to fill this gap by assessing yield of all cancer results and associated recommendations for patients undergoing GS for HCS.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>MATERIALS AND METHODS<\/jats:title>\n            <jats:p>\n              An observational chart review and survey were conducted for cancer patients with previous uninformative cancer gene panel results, who received GS as part of the Incidental Genomics Trial (ClinicalTrials.gov identifier:\n              <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.clinicaltrials.gov\/ct2\/show\/NCT03597165\">NCT03597165<\/jats:ext-link>\n              ). Descriptive statistics were used to describe demographics and clinical history. Proportions were calculated to compare frequencies of result types and recommendations made and followed.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>RESULTS<\/jats:title>\n            <jats:p>\n              A total of 276 patients were eligible and included. Participants were mostly female (n = 240), European (n = 158), and with breast cancer history (n = 168). Yield: 25 patients (9.1%) received \u22651 pathogenic\/likely pathogenic variant, 246 (89%) received \u22651 variant of uncertain significance (VUS), and 27 (10%) were negative. Most pathogenic variants (20\/26) were in low\/moderate cancer risk genes. The mean number of VUS was 2.7\/patient and higher in non-Europeans versus Europeans (3.5\n              <jats:italic>v<\/jats:italic>\n              2.5,\n              <jats:italic>P<\/jats:italic>\n              &lt; .05). Recommendations: Pathogenic variants triggered 100 recommendations in 21\/25 patients; most were for genetic counseling, communication to relatives, and cascade testing.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONCLUSION<\/jats:title>\n            <jats:p>GS provided a modest increase in utility after first-tier cancer gene panels, at the cost of a high frequency of uncertain results. Furthermore, most positives were low\/moderate cancer risk results that did not have corresponding evidence-based, management guidelines.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1200\/po-24-00407","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T20:59:19Z","timestamp":1734037159000},"update-policy":"https:\/\/doi.org\/10.1200\/crossmark","source":"Crossref","is-referenced-by-count":1,"title":["Clinical Utility of Genomic Sequencing for Hereditary Cancer Syndromes: An Observational Cohort Study"],"prefix":"10.1200","author":[{"given":"Salma","family":"Shickh","sequence":"first","affiliation":[{"name":"Institute of Health Policy, Management &amp; Evaluation, University of Toronto, Toronto, ON, Canada"},{"name":"Genomics Health Services Research Program, Li Ka Shing Knowledge Institute of St Michael's Hospital, Unity Health Toronto, Toronto, ON, 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