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.

100,000 Genomes Project participants could consent to receive additional findings (AFs) for variants associated with susceptibility to cancer and FH. Here we evaluate stakeholder experiences to inform clinical practice. The study comprised a cross-sectional survey and interviews with participants who received a positive AF (PAF), and interviews with participants who had no AFs (NAF). 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.

• Genet Med. 2025 Apr 19:101446.
• PMID: 40260669
• doi: 10.1016/j.gim.2025.101446
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