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
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.
Author
Stafford-Smith, Bethany
Daniel, Morgan
Peter, Michelle
Gurasashvili, Jana
Baptiste, Rashida
Bracke-Manzanares, Xavier
Georgiou, Lamprini
Green-Armytage, Adele
Griffin, Blanche
Lumborg, Bethany
Paternoster, Ben
Smith, Emma
Balasubramanian, Meena
Bownass, Lucy
Brennan, Paul
Cleaver, Ruth
Clowes, Virginia
Costello, Philandra
DeSouza, Bianca
Dubois, Louise
George, Angela
George, Elaine
Harrison, Rachel
Hawkes, Lara
Humphries, Steve E
Jones, Alan
Jones, Elizabeth A
Kraus, Alison
Holiday, Deborah
McEntagart, Meriel
Somarathi, Suresh
Taylor, Amy
Tripathi, Vishakha
Morris, Stephen
Chitty, Lyn S
Hill, Melissa
Daniel, Morgan
Peter, Michelle
Gurasashvili, Jana
Baptiste, Rashida
Bracke-Manzanares, Xavier
Georgiou, Lamprini
Green-Armytage, Adele
Griffin, Blanche
Lumborg, Bethany
Paternoster, Ben
Smith, Emma
Balasubramanian, Meena
Bownass, Lucy
Brennan, Paul
Cleaver, Ruth
Clowes, Virginia
Costello, Philandra
DeSouza, Bianca
Dubois, Louise
George, Angela
George, Elaine
Harrison, Rachel
Hawkes, Lara
Humphries, Steve E
Jones, Alan
Jones, Elizabeth A
Kraus, Alison
Holiday, Deborah
McEntagart, Meriel
Somarathi, Suresh
Taylor, Amy
Tripathi, Vishakha
Morris, Stephen
Chitty, Lyn S
Hill, Melissa
Date
2025-04-19
Type
Article
Subject
Oncology. Pathology.::Genetics, Oncology. Pathology.
Collections
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 Dec;27(12):101446. doi: 10.1016/j.gim.2025.101446. Epub 2025 Apr 19.
Journal / Source Title
Genetics in Medicine
DOI
10.1016/j.gim.2025.101446
PMID
40260669
Publisher
Elsevier
Publisher’s URL
https://www.nature.com/gim/