🎙️ Episode 23: Evaluating the Return of Additional Findings from the 100,000 Genomes Project — Participant Experiences of Secondary Genomic Findings

🧬 In this episode of Base por Base, we explore a mixed-methods study by Stafford-Smith et al. (2025) published in Genetics in Medicine, which examines how participants in England’s 100,000 Genomes Project experienced the disclosure of additional (secondary) genomic findings. By combining a cross-sectional survey of 147 adults who received either cancer- or familial hypercholesterolemia-related findings with in-depth interviews of 35 positive-finding recipients and 29 individuals with no additional findings, this research sheds light on the psychological, behavioural, and communication aspects of returning actionable genetic results through NHS pathways.

🔍 Study highlights:
Participants rated the utility of their results exceptionally high (mean 8.9/10 now; 9.0/10 for future use) and most (82%) reported that knowing their finding would influence health management. Those who learned of a cancer-related variant often felt initial shock and anxiety, whereas individuals with familial hypercholesterolemia findings described relief and readiness to act. Recipients of no additional findings welcomed the reassurance but sometimes struggled to distinguish these results from their primary diagnostic findings. Overall decisional regret was low (median score 5/100), though a minority experienced mild or high regret initially. Thematic analysis revealed that clear, tailored communication and timely clinical support were critical for helping participants adjust, share results with family, and implement risk-reducing strategies.

🧠 Conclusion:
Stafford-Smith et al. demonstrate strong participant support for routinely offering actionable secondary findings alongside genome sequencing, while emphasizing the need for condition-specific pathways, improved consent-to-result timelines, and enhanced informational resources for no-finding recipients. Their work lays the groundwork for more patient-centred genomic medicine practices and underscores the importance of psychosocial support in “genome-first” care models.

📖 Reference:
Stafford-Smith B., Daniel M., Peter M., et al. (2025). 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. 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 (CC BY 4.0) license – https://creativecommons.org/licenses/by/4.0/