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
| 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 |
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| Authors: | Stafford-Smith B; Daniel M; Peter M; Gurasashvili J; Baptiste R; Bracke-Manzanares X; Georgiou L; Green-Armytage A; Griffin B; Lumborg B; Paternoster B; Smith E; Balasubramanian M; Bownass L; Brennan P; Cleaver R; Clowes V; Costello P; DeSouza B; Dubois L; George A; George E; Harrison R; Hawkes L; Humphries SE; Jones A; Jones EA; Kraus A; Holiday D; McEntagart M; Somarathi S; Taylor A; Tripathi V; Morris S; Chitty LS; Hill M |
| Source: | Genetics in Medicine, December 2025 |
| Publisher Information: | Elsevier B.V. |
| Publication Year: | 2025 |
| Collection: | Newcastle University Library ePrints Service |
| Description: | © 2025 The Authors.Purpose The 100,000 Genomes Project participants could consent to receive additional findings (AFs) for variants associated with susceptibility to cancer and familial hypercholesterolemia. Here, we evaluate stakeholder experiences to inform clinical practice. Methods Mixed-methods study conducted at 18 sites across England that comprised a cross-sectional survey and interviews with participants who received a positive AF (PAF) and interviews with participants who had no AFs (NAF). Results There were 146 surveys followed by 35 interviews with PAF participants and 29 interviews with NAF participants. Surveys found that PAF results were seen as useful and would influence health management (82%). Most (90%) had shared their result with family members. Experiences differed by PAF type; cancer PAF participants were often initially shocked and anxious and found telling family members challenging compared with participants with a familial hypercholesterolemia PAF. Although most experiences of NAF results were positive, some misunderstandings were identified. Participants supported returning AFs when offering genome sequencing. Conclusion Patient experiences of receiving AFs were primarily positive, and there is support for offering AFs routinely. Considerations for offering AFs in clinical practice include adapting approaches tailored to individual conditions and greater support for people with a NAF result. |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | unknown |
| Relation: | https://eprints.ncl.ac.uk/308868; https://eprints.ncl.ac.uk/fulltext.aspx?url=308868/C469FFAD-68A0-440A-A6F8-AD02CE91EF62.pdf&pub_id=308868 |
| Availability: | https://eprints.ncl.ac.uk/308868 |
| Rights: | https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: | edsbas.1006B23 |
| Database: | BASE |