Show Notes
Stafford-Smith B et al., Genetics in Medicine - Mixed-methods evaluation of how 100,000 Genomes Project participants experienced receiving positive additional findings (PAFs) for cancer or familial hypercholesterolaemia and no additional findings (NAFs), with implications for clinical return pathways and patient support. Key terms: genome sequencing, additional findings, secondary findings, participant experiences, familial hypercholesterolemia.
Study Highlights:
This convergent mixed-methods study surveyed 147 PAF recipients and conducted interviews with 35 PAF and 29 NAF participants across 18 NHS sites. Most participants found AF results useful, expected to act on recommendations, and shared results with family, though cancer PAFs caused more initial shock and distress than FH PAFs. NAF recipients were generally relieved but some misunderstood the scope and limitations of the result and wanted follow-up. Participants supported offering AFs when optional and actionable, while recommending tailored communication and timely clinical support.
Conclusion:
Patient experiences were largely positive and supportive of routinely offering actionable additional findings, but practice should include clearer communication for NAF recipients, condition-tailored approaches, and timely, tailored clinical support for those with positive findings.
QC:
This episode was checked against the original article PDF and publication metadata.
Scope: article metadata and core scientific claims from the narration, excluding analogies, intro/outro, and music.
Factual QC score: 10/10.
Metadata QC score: 10/10.
Supported core claims: 7.
Claims flagged for review: 0.
Metadata checks passed: 4.
Metadata issues found: 0.
QC result: Pass.
Music:
Enjoy the music based on this article at the end of the episode.
Article 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
First author:
Stafford-Smith B
Journal:
Genetics in Medicine
DOI:
10.1016/j.gim.2025.101446
Reference:
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. Genetics in Medicine (2025), doi: https://doi.org/10.1016/j.gim.2025.101446.
License:
This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/
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Episode link: https://basebybase.com/episodes/returning-additional-findings-100kgenomes-ep23
