{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T11:59:52Z","timestamp":1781265592132,"version":"3.54.1"},"reference-count":47,"publisher":"BMJ","issue":"3","funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","award":["NIHR300099"],"award-info":[{"award-number":["NIHR300099"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,11,2]]},"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known about the process of communicating results from WGS to families in practice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We audio-recorded clinicians and parents discussing the results of WGS for their child\u2019s rare disease diagnosis as part of a larger mixed-methods evaluation of the implementation of the NHS Genomic Medicine Service during its early years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>10 consultations were audio-recorded across four NHS Trusts. Clinical indications for WGS were related to neurological and developmental disorders. Seven parents received a genetic diagnosis for their child\u2019s condition, two received a variant of uncertain significance, and one received a no primary finding result. One parent also received an incidental finding for their child. Challenges in discussing results included (1) explaining a diagnosis when the genotype was established before detailed phenotyping, (2) navigating follow-up for an adult-onset condition identified in childhood, (3) disclosing an unexpected diagnosis for a parent from trio testing and (4) conveying a diagnosis with an uncertain prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study illustrates some of the issues that can arise from unexpected and uncertain information when returning results from broad-scope genomic testing for paediatric neurological and developmental disorders. Further study of actual interactions between clinicians and families discussing results from WGS across different specialities and conditions is needed to inform guidance on communication of results within this rapidly evolving area of medicine.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2025-111137","type":"journal-article","created":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T11:35:18Z","timestamp":1765452918000},"page":"174-183","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent\u2013clinician interactions"],"prefix":"10.1136","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5345-0192","authenticated-orcid":false,"given":"Holly","family":"Ellard","sequence":"first","affiliation":[{"name":"Population, Policy and Practice, University College London Great Ormond Street Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jhumana","family":"Ali","sequence":"additional","affiliation":[{"name":"Division of Psychology and Language Sciences, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phoebe","family":"Buxton","sequence":"additional","affiliation":[{"name":"School of Medicine, Cardiff University, Cardiff, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myra","family":"Bluebond-Langner","sequence":"additional","affiliation":[{"name":"Louis Dundas Centre for Palliative Care for Children and Young People, University College London Great Ormond Street Institute of Child Health, London, UK"},{"name":"Department of Sociology, Anthropology and Criminal Justice, Rutgers University Camden, Camden, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7169-1521","authenticated-orcid":false,"given":"Celine","family":"Lewis","sequence":"additional","affiliation":[{"name":"Population, Policy and Practice, University College London Great Ormond Street Institute of Child Health, London, UK"},{"name":"North East Thames Regional Genetics Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,12,11]]},"reference":[{"key":"2026061204451533000_63.3.174.1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01110-3"},{"key":"2026061204451533000_63.3.174.2","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02358-x","article-title":"The diagnostic odyssey: insights from parents of children living with an undiagnosed condition","volume":"17","author":"Bauskis","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"2026061204451533000_63.3.174.3","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.526779","article-title":"Genetic Testing in Neurodevelopmental Disorders","volume":"9","author":"Savatt","year":"2021","journal-title":"Front Pediatr"},{"key":"2026061204451533000_63.3.174.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2035790"},{"key":"2026061204451533000_63.3.174.5","unstructured":"Genomics England . News: 100,000 whole genomes sequenced through the NHS GMS. 2024. Available: https:\/\/www.genomicsengland.co.uk\/news\/100-000-whole-genomes-sequenced-through-the-nhs-gms [Accessed 09 Jun 2025]."},{"key":"2026061204451533000_63.3.174.6","unstructured":"NHS England . National genomic test directory for rare and inherited disease. 2025. Available: https:\/\/www.england.nhs.uk\/publication\/national-genomic-test-directories\/ [Accessed 24 Sep 2025]."},{"key":"2026061204451533000_63.3.174.7","unstructured":"NHS England Genomics Education Programme . Consent conversation for genomic testing. 2024. 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