Summary 

  • Genomics is on the rise, with 60 million genomes expected to be sequenced by 2025
  • The Global Alliance for Genomics and Health (GA4GH) is a technical standards-setting organisation that aims to enable responsible genomic data sharing
  • A recent paper by GA4GH members reviews national initiatives to integrate genomics into healthcare and presents a roadmap for the future

January 3, Cambridge – In a paper released today in the American Journal of Human Genetics, members of the Global Alliance for Genomics and Health (GA4GH) review the diverse approaches being taken around the world to integrate genomics into healthcare and present a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

Genomic sequencing has traditionally been a research tool, but with the emergence of national clinical genomic initiatives around the globe, this trend is shifting. The generation of genomic data in the healthcare setting will quickly outpace that in research within the next five years, with 60 million genomes expected to be sequenced by 2025.

The authors provide a detailed overview of the national genomics strategy in the UK, the US, France, and Australia. In addition, they note that Saudi Arabia, Estonia, Finland, Denmark, Japan, and Qatar are all developing their own national strategies, which range from projects that focus on rare disease and cancer—where genomic data will have the most immediate impact—to projects that plan to roll out sequencing services across the healthy population for research purposes that feed back into healthcare and benefit everyone.

“GA4GH can and does serve as a forum for these discussions,” says Ewan Birney, Director of EMBL’s European Bioinformatics Institute (EMBL-EBI). “We believe the international clinical community needs to be at the table as we in the research and technical fields develop the softwares and approaches that will enable responsible data sharing.”

Read the full press release on the GA4GH website

Source article

STARK, Z., et al. (2019). Integrating genomics into healthcare: a global responsibility. American Journal of Human Genetics. Published online 03 01; DOI: 10.1016/j.ajhg.2018.11.014

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