{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T00:34:10Z","timestamp":1759624450796,"version":"build-2065373602"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100004336","name":"Novartis","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004336","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Genome-wide sequencing (GWS) is now used across the breadth of pediatric research. There is a greater potential to identify unexpected, clinically relevant findings with GWS than with the targeted genetic techniques used in prior decades. Individual research teams may not have the expertise to evaluate and manage these findings. The Hospital for Sick Children (SickKids) Genome Board is a no-cost consultation service for researchers with questions arising from genetic aspects of their studies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We reviewed all submissions to and recommendations from the Genome Board over the first 4 years, to identify common questions, themes, and trends.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>There were 67 submissions and a year-over-year increase in volumes. The most common request (60%) was to assess variants identified by GWS for pathogenicity, clinical actionability, and returnability to a study participant. Overall, 23 of 48 reviewed variants were recommended for clinical confirmation and return with genetic counselling. Other categories of submissions included requests to researchers from study participants to release their \u201craw\u201d genomic data and for input on protocols related to clinical translation of findings.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The Genome Board provides a generalizable model for centralized triage of clinical questions arising from genomic research at a pediatric centre. Clinicians should be aware that patient participation in genetic research studies can have downstream consequences for their healthcare.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/pch\/pxaf020","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T11:46:17Z","timestamp":1758541577000},"page":"502-507","source":"Crossref","is-referenced-by-count":0,"title":["Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board"],"prefix":"10.1093","volume":"30","author":[{"given":"Amy Y","family":"Pan","sequence":"first","affiliation":[{"name":"Program in Genetics and Genome Biology, SickKids Research Institute , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenzie","family":"Pulsifer","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, SickKids Research Institute , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle M","family":"Axford","sequence":"additional","affiliation":[{"name":"Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children , Toronto, Ontario"},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lena","family":"Dolman","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Toronto , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bailey","family":"Gallinger","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, Ontario"},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eriskay","family":"Liston","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, University of Toronto , Toronto, Ontario"},{"name":"Precision Child Health, The Hospital for Sick Children , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Stephenson","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Toronto , Toronto, Ontario"},{"name":"Division of Cardiology, The Hospital for Sick Children , Toronto, Ontario"},{"name":"SickKids Research Ethics Board, The Hospital for Sick Children , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9140-6193","authenticated-orcid":false,"given":"Anna","family":"Szuto","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, SickKids Research Institute , Toronto, Ontario"},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, Ontario"},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, Ontario"},{"name":"Precision Child Health, The Hospital for Sick Children , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Zahavich","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, Ontario"},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, Ontario"},{"name":"Division of Cardiology, The Hospital for Sick Children , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0099-9945","authenticated-orcid":false,"given":"Gregory","family":"Costain","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, SickKids Research Institute , Toronto, Ontario"},{"name":"Department of Paediatrics, University of Toronto , Toronto, Ontario"},{"name":"Division of Clinical and Metabolic Genetics, The Hospital for Sick Children , Toronto, Ontario"},{"name":"Department of Molecular Genetics, University of Toronto , Toronto, Ontario"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,9,22]]},"reference":[{"issue":"9","key":"2025100407170356900_CIT0001","doi-asserted-by":"publisher","first-page":"e2018109","DOI":"10.1001\/jamanetworkopen.2020.18109","article-title":"Genome sequencing as a diagnostic test in children with unexplained medical complexity","volume":"3","author":"Costain","year":"2020","journal-title":"JAMA Network Open"},{"issue":"3","key":"2025100407170356900_CIT0002","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1093\/pch\/pxx152","article-title":"Genome-wide sequencing technologies: A primer for paediatricians","volume":"23","author":"Hayeems","year":"2018","journal-title":"Paediatr Child Health"},{"issue":"11","key":"2025100407170356900_CIT0003","doi-asserted-by":"publisher","first-page":"1947","DOI":"10.1016\/j.ajhg.2022.10.002","article-title":"Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery","volume":"109","author":"Boycott","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"23","key":"2025100407170356900_CIT0004","doi-asserted-by":"publisher","first-page":"4409","DOI":"10.1016\/j.cell.2022.10.009","article-title":"Genomic architecture of autism from comprehensive whole-genome sequence annotation","volume":"185","author":"Trost","year":"2022","journal-title":"Cell"},{"issue":"3","key":"2025100407170356900_CIT0005","doi-asserted-by":"crossref","first-page":"100108","DOI":"10.1016\/j.xhgg.2022.100108","article-title":"Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study","volume":"3","author":"Elliott","year":"2022","journal-title":"Human Genet Genom Adv"},{"issue":"7","key":"2025100407170356900_CIT0006","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1136\/jmedgenet-2015-103144","article-title":"The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists","volume":"52","author":"Boycott","year":"2015","journal-title":"J Med Genet"},{"issue":"10","key":"2025100407170356900_CIT0007","doi-asserted-by":"publisher","first-page":"2079","DOI":"10.1016\/j.ajhg.2024.08.012","article-title":"International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review","volume":"111","author":"Majeed","year":"2024","journal-title":"Am J Hum Genet"},{"issue":"42","key":"2025100407170356900_CIT0008","doi-asserted-by":"publisher","first-page":"E1626","DOI":"10.1503\/cmaj.210549","article-title":"Genome sequencing as a diagnostic test","volume":"193","author":"Costain","year":"2021","journal-title":"CMAJ"},{"issue":"1","key":"2025100407170356900_CIT0009","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ejhg.2015.58","article-title":"Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research","volume":"24","author":"Middleton","year":"2015","journal-title":"Eur J Hum Genet"},{"issue":"1","key":"2025100407170356900_CIT0010","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1186\/s13073-021-00928-5","article-title":"An international policy on returning genomic research results","volume":"13","author":"Lewis","year":"2021","journal-title":"Genome Med"},{"first-page":"1","year":"2017","author":"Gibson","key":"2025100407170356900_CIT0011"},{"issue":"5","key":"2025100407170356900_CIT0012","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2025100407170356900_CIT0013","doi-asserted-by":"publisher","first-page":"101228","DOI":"10.1016\/j.gim.2024.101228","article-title":"The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation","volume":"27","author":"Andersen","year":"2024","journal-title":"Genet Med"},{"issue":"8","key":"2025100407170356900_CIT0014","doi-asserted-by":"publisher","first-page":"100866","DOI":"10.1016\/j.gim.2023.100866","article-title":"ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Miller","year":"2023","journal-title":"Genet Med"},{"issue":"5","key":"2025100407170356900_CIT0015","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1007\/s10897-014-9817-1","article-title":"Association of researcher characteristics with views on return of incidental findings from genomic research","volume":"24","author":"Wynn","year":"2015","journal-title":"J Genet Couns"},{"key":"2025100407170356900_CIT0016","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/s41525-021-00175-y","article-title":"Please give me a copy of my child\u2019s raw genomic data","volume":"6","author":"Chad","year":"2021","journal-title":"NPJ Genomic Med"},{"issue":"1","key":"2025100407170356900_CIT0017","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1093\/pch\/pxab070","article-title":"Understanding genetic variants of uncertain significance","volume":"27","author":"Joynt","year":"2021","journal-title":"Paediatr Child Health"},{"issue":"44","key":"2025100407170356900_CIT0018","doi-asserted-by":"publisher","first-page":"E1500","DOI":"10.1503\/cmaj.212063","article-title":"Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy","volume":"194","author":"Longstaff","year":"2022","journal-title":"CMAJ"},{"issue":"3","key":"2025100407170356900_CIT0019","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1038\/gim.2016.109","article-title":"Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies","volume":"19","author":"Mackley","year":"2016","journal-title":"Genet Med"},{"issue":"11","key":"2025100407170356900_CIT0020","doi-asserted-by":"publisher","first-page":"101225","DOI":"10.1016\/j.gim.2024.101225","article-title":"Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants","volume":"26","author":"Saeidian","year":"2024","journal-title":"Genet Med"},{"issue":"4","key":"2025100407170356900_CIT0021","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1038\/s41390-022-02313-3","article-title":"Pharmacogenetic profiling via genome sequencing in children with medical complexity","volume":"93","author":"Pan","year":"2022","journal-title":"Pediatr Res"},{"key":"2025100407170356900_CIT0022","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1038\/s43856-023-00419-1","article-title":"Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders","volume":"4","author":"Lauffer","year":"2024","journal-title":"Commun Med."},{"key":"2025100407170356900_CIT0023","doi-asserted-by":"publisher","first-page":"S0002-9297(25)00064-3","DOI":"10.1016\/j.ajhg.2025.02.017","article-title":"Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments","volume-title":"Am J Hum Genet","author":"Cheerie","year":"2025"},{"key":"2025100407170356900_CIT0024","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/s41525-025-00474-8","article-title":"Precision Child Health: accelerating discovery and improving outcomes in rare pediatric disease","volume":"10","author":"Howell","year":"2025","journal-title":"NPJ Genomic Med"}],"container-title":["Paediatrics &amp; Child Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pch\/article-pdf\/30\/6\/502\/64342569\/pxaf020.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pch\/article-pdf\/30\/6\/502\/64342569\/pxaf020.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T11:17:10Z","timestamp":1759576630000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pch\/article\/30\/6\/502\/8261323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":24,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,9,22]]},"published-print":{"date-parts":[[2025,10,4]]}},"URL":"https:\/\/doi.org\/10.1093\/pch\/pxaf020","relation":{},"ISSN":["1205-7088","1918-1485"],"issn-type":[{"type":"print","value":"1205-7088"},{"type":"electronic","value":"1918-1485"}],"subject":[],"published-other":{"date-parts":[[2025,9]]},"published":{"date-parts":[[2025,9]]}}}