Browse by author
Lookup NU author(s): Dr Paul Brennan
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 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.
Author(s): 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
Publication type: Article
Publication status: Published
Journal: Genetics in Medicine
Year: 2025
Volume: 27
Issue: 12
Print publication date: 01/12/2025
Online publication date: 19/04/2025
Acceptance date: 08/04/2025
Date deposited: 26/11/2025
ISSN (print): 1098-3600
ISSN (electronic): 1530-0366
Publisher: Elsevier B.V.
URL: https://doi.org/10.1016/j.gim.2025.101446
DOI: 10.1016/j.gim.2025.101446
Data Access Statement: The data that support the findings of this study are available from the corresponding author (M.H.) upon request and in cases in which participant consent has been given.
PubMed id: 40260669
Altmetrics provided by Altmetric
