Cover: Population-scale sequencing and the future of genomic medicine

Population-scale sequencing and the future of genomic medicine

Learning from past and present efforts

Published Apr 29, 2016

by Talitha Dubow, Sonja Marjanovic

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Research Questions

  1. How diverse are population-scale genome-sequencing initiatives in terms of their aims, activities, management and governance models?
  2. What impacts, both direct and indirect, have population-scale sequencing initiatives had to date?
  3. What can we learn from their variety, evolution and achievements, and what implications does this have for future research, policy and practice?

Genomic medicine, as a field, has the potential to change the way we prevent, manage and treat disease. Although the routine implementation of genomic medicine in clinical care is yet to be realised, diverse national and international initiatives are narrowing the gap between prospect and practice. This paper provides a reflection on the variety of population-scale genome-sequencing efforts that have emerged over the past two decades and examines their social implications. We analyse the progress these initiatives have made, both in terms of their scientific, technological and biomedical contributions, and in terms of their influence on the institutions that govern science and innovation more widely. Based on our analysis, we identify five areas of action for a future research and policy agenda to consider. These span issues related to: i) the scale-up of existing efforts and the need for more cross-sector collaboration for clinically-relevant sense-making; ii) the implications of genomics in clinical settings; iii) changes in industry R&D models that are likely to accompany further advances in genomic medicine; iv) consolidating learning about appropriate research ethics frameworks and clarifying the legal arrangements necessary for genomic medicine; and v) wider evaluation and learning from past and current efforts.

Key Findings

  • Population-based sequencing initiatives have diverse goals, but are increasingly focused on clinical application.
  • Population-based sequencing initiatives have had direct impacts on biomedicine as a field, as well as contributing to the social institutions that govern science and innovation more widely.
  • Direct achievements of population-based sequencing initiatives include: catalogues of population-specific genetic variation that have enabled clinical association studies; longitudinal datasets that can enhance our understanding of the links between genetic, lifestyle and environmental factors; enhanced prospects for diagnosis and improved disease-management; and contributions to research and innovation capacity-building (e.g. new analytical tools, skills, equipment and facilities).
  • Population-sequencing initiatives have advanced the state of debate on research ethics and data management, and introduced new approaches to addressing the accompanying social concerns, such as informed consent and privacy and security provisions.


Based on our analysis, we recommend five areas for consideration by policymakers and researchers alike:

  • Scale-up of international, interdisciplinary and cross-sector collaboration;
  • New research on the implications of genomic interventions in a clinical setting;
  • Possible changes in the rationales for public and private investment in genomic medicine and in industry R&D models, as well as associated public acceptability concerns accompanying the joint pursuit of health and commercial interests;
  • Consolidation of learning regarding appropriate research ethics arrangements, and consideration of necessary legal frameworks;
  • Wider evaluation and learning from past and present efforts.

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The research described in this report was conducted by RAND Europe.

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