The Global Alliance for Genomics and Health (GA4GH) has unveiled its new strategic plan, called GA4GH Connect, which lays out the goals for the next five years.  The plan, which was revealed at GA4GH’s 5th Plenary Meeting in the run up to ASHG, hopes to improve and define genomic data sharing standards on an international level.

GA4GH, which consists of more than 500 members, is a non-profit organisation that aims to accelerate the benefits genomic medicine could bring to human health. One part of that goal involves trying to establish and maintain standards that allow researchers to share genomic data in a secure, responsible, and voluntary manner. GA4GH Connect is one way in which the organisation is trying to ensure that these changes happen.

“Healthcare is harnessing the power of genomics to make better diagnoses and treatment decisions in rare disease and cancer across the world,” said Professor Ewan Birney, Director of the European Bioinformatics Institute (EMBL-EBI) and Chair of the GA4GH Steering Committee. “We have a responsibility to enable this future for everyone, and to harness the resulting data for further research on human health and fundamental biology.”

The new strategy was announced earlier this week at GA4GH’s 5th Plenary Meeting, which is an official ancillary meeting to the American Society of Human Genetics (ASHG) annual meeting, taking place between 17th October and 21st October. The details of the plan will be discussed in further detail at ASHG in Orlando, Florida this week.

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GA4GH Connect also outlines 15 collaboration partners, which include Genomics England, Australian Genomics, and the US All of Us Research Program. A full list of collaborators can be found at the bottom of this article.

At the same plenary meeting, GA4GH released its new data retrieval specification, htsget. Labelled as the first robust genomics standard for data sharing, htsget enables researchers to only download read data that concerns regions of the genome that they are interested in. Previous tools have required users to download entire sequences, necessitating significant time, computational storage, and more complex analytical tools. By only downloading the necessary read data, researchers should be able to more easily complete the analysis that they need.

With concerns about the security of data sharing and personal privacy rising, this announcement has enjoyed initially good reception.

“As the world’s biomedical research enterprise continues to generate massive amounts of genomic data, we must be certain that data-sharing standards are in place so all innovators around the globe can use data from anywhere seamlessly, and share it responsibly and effectively,” said Francis S. Collins, MD, PhD, Director of the U.S. National Institutes of Health (NIH). “I am delighted that the NIH All of Us Research Program will be a GA4GH Driver Project, so NIH will be able to provide input and guidance as these standards are developed.”

GA4GH Collaborations:

  • Genomics England
  • Australian Genomics
  • All of Us Research Program
  • ClinGen
  • Human Cell Atlas
  • BRCA Challenge
  • CanDIG
  • ELIXIR Beacon
  • Matchmaker Exchange
  • Monarch Initiative
  • NCI Genomic Data Commons
  • TOPMed
  • Variant Interpretation for Cancer Consortium