Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.

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Title: Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
Authors: Stafford-Smith B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Daniel M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Peter M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Gurasashvili J; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Baptiste R; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Bracke-Manzanares X; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom., Georgiou L; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Green-Armytage A; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Griffin B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Lumborg B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Paternoster B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Smith E; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom; Division of Clinical Medicine, University of Sheffield, Sheffield, United Kingdom., Bownass L; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Brennan P; Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom., Cleaver R; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Clowes V; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London North West University Healthcare NHS Trust, London, United Kingdom., Costello P; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., DeSouza B; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London North West University Healthcare NHS Trust, London, United Kingdom., Dubois L; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom., George A; Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom., George E; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom., Harrison R; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Hawkes L; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Humphries SE; Centre for Cardiovascular Genetics, University College London, London, United Kingdom., Jones A; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom., Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom., Holiday D; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom., McEntagart M; Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, United Kingdom., Somarathi S; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Taylor A; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Tripathi V; Department of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, United Kingdom., Morris S; Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Chitty LS; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Hill M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address: melissa.hill@ucl.ac.uk.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Dec; Vol. 27 (12), pp. 101446. Date of Electronic Publication: 2025 Apr 19.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Stafford-Smith+B%22">Stafford-Smith B</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Daniel+M%22">Daniel M</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Peter+M%22">Peter M</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Gurasashvili+J%22">Gurasashvili J</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Baptiste+R%22">Baptiste R</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bracke-Manzanares+X%22">Bracke-Manzanares X</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Georgiou+L%22">Georgiou L</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Green-Armytage+A%22">Green-Armytage A</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Griffin+B%22">Griffin B</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lumborg+B%22">Lumborg B</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Paternoster+B%22">Paternoster B</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Smith+E%22">Smith E</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+M%22">Balasubramanian M</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom; Division of Clinical Medicine, University of Sheffield, Sheffield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bownass+L%22">Bownass L</searchLink>; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Brennan+P%22">Brennan P</searchLink>; Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cleaver+R%22">Cleaver R</searchLink>; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Clowes+V%22">Clowes V</searchLink>; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London North West University Healthcare NHS Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Costello+P%22">Costello P</searchLink>; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22DeSouza+B%22">DeSouza B</searchLink>; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London North West University Healthcare NHS Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Dubois+L%22">Dubois L</searchLink>; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.<br /><searchLink fieldCode="AU" term="%22George+A%22">George A</searchLink>; Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22George+E%22">George E</searchLink>; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Harrison+R%22">Harrison R</searchLink>; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hawkes+L%22">Hawkes L</searchLink>; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Humphries+SE%22">Humphries SE</searchLink>; Centre for Cardiovascular Genetics, University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jones+A%22">Jones A</searchLink>; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jones+EA%22">Jones EA</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kraus+A%22">Kraus A</searchLink>; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Holiday+D%22">Holiday D</searchLink>; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22McEntagart+M%22">McEntagart M</searchLink>; Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Somarathi+S%22">Somarathi S</searchLink>; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Taylor+A%22">Taylor A</searchLink>; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Tripathi+V%22">Tripathi V</searchLink>; Department of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Morris+S%22">Morris S</searchLink>; Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chitty+LS%22">Chitty LS</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hill+M%22">Hill M</searchLink>; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address: melissa.hill@ucl.ac.uk.
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