🎙️ Episode 14: Beyond the Genome - Societal Value of National Genomics Programmes

🎙️ Episode 14: Beyond the Genome: Societal Value of National Genomics Programmes

🧬 In this episode of Base by Base, we discuss a thought-provoking report published in the European Journal of Human Genetics that tackles a crucial yet underexplored question: what is the actual value of large-scale national genomic programmes for society?

Led by Ruth Horn, Angeliki Kerasidou, Jennifer Merchant and the UK-FR+GENE consortium, this multidisciplinary workshop brought together ethicists, geneticists, economists, clinicians, and policymakers from across Europe. Their goal was to define how these programmes contribute to public good—scientifically, economically, and socially.

🔍 Key insights include:

• Trust and Transparency: Public trust is essential but fragile. While rigorous data governance can help, ongoing concerns about data privacy and public-private partnerships must be addressed transparently.

• Economic Gaps: Despite major investments, there is still a lack of robust evaluations on the cost-effectiveness of large sequencing programmes. Without economic frameworks, the opportunity costs for public health remain unquantified.

• Clinical Impacts: While many patients benefit from genomic diagnosis—especially in rare diseases—others experience uncertainty or frustration when no actionable outcome is available. Professionals often navigate this with cautious optimism.

• Scientific Caution: While technologies like polygenic risk scores and whole-genome sequencing promise precision, their predictive power is still limited in many common diseases. Interpretation challenges persist in the clinic.

• Population-Level Dilemmas: Genomic medicine has the potential to inform public health strategies, but equitable access and demonstrable outcomes are still lacking. Minority and underserved groups risk being left behind.

• Call to Action: The authors advocate for clearer criteria when rolling out large-scale genomic initiatives—avoiding overpromising, prioritizing equity, integrating cost assessments, and respecting the nuanced experiences of patients and families.

This episode explores how genomics must not only advance science, but also demonstrate meaningful, measurable benefits to society at large—especially in solidarity-based healthcare systems. Without this balance, the promise of genomic medicine risks being overshadowed by overreach.

📖 Reference:
Horn, R., Kerasidou, A., Merchant, J., et al. (2025). The value of large-scale programmes in human genomics. European Journal of Human Genetics. https://doi.org/10.1038/s41431-025-01844-7

📜 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/