全球智库信息集成服务系统

• 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.

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.

• Chapter One

  Background and context

• Chapter Two

  Methods

• Chapter Three

  Results

• Chapter Four

  In reflection