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
Stafford-Smith, Bethany Daniel, Morgan Peter, Michelle Gurasashvili, Jana Baptiste, Rashida Bracke-Manzanares, Xavier Georgiou, Lamprini Green-Armytage, Adele Griffin, Blanche Lumborg, Bethany
Stafford-Smith, Bethany
Daniel, Morgan
Peter, Michelle
Gurasashvili, Jana
Baptiste, Rashida
Bracke-Manzanares, Xavier
Georgiou, Lamprini
Green-Armytage, Adele
Griffin, Blanche
Lumborg, Bethany
Affiliation
Great Ormond Street Hospital for Children NHS Foundation Trust; Royal Marsden NHS Foundation Trust; Sheffield Children's NHS Foundation Trust; University of Sheffield; University Hospitals Bristol NHS Foundation Trust; Newcastle Hospitals NHS Foundation Trust; Royal Devon University Healthcare NHS Foundation Trust; North West University Healthcare NHS Trust; Princess Anne Hospital; Liverpool Women's NHS Foundation Trust; University Hospitals Birmingham NHS Foundation Trust; Nottingham University Hospitals NHS Trust; Oxford University Hospitals NHS Foundation Trust; University College London; Manchester University NHS Foundation Trust; University of Manchester; Chapel Allerton Hospital; St. George's University of London; Birmingham Women's and Children's NHS Foundation Trust; Cambridge University Hospitals NHS Foundation Trust; Guy's and St Thomas' Hospitals NHS Trust; University of Cambridge
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Publication date
2025-04-19
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Abstract
Purpose: 100,000 Genomes Project participants could consent to receive additional findings (AFs) for variants associated with susceptibility to cancer and familial hypercholesterolemia (FH). 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 to participants with an FH PAF. Whilst 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.
Citation
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. 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. Genet Med. 2025 Apr 19:101446. doi: 10.1016/j.gim.2025.101446. Epub ahead of print.
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Article