3 January 2019
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. By 2030, China hopes to reach its goal of adding another 100 million genomes through the Chinese Precision Medicine Initiative.
The authors, which include GA4GH CEO Peter Goodhand, Chair Ewan Birney, Vice-Chair Kathryn North, and several other GA4GH experts, 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.
“We must work collaboratively to apply knowledge gained in these high income countries in lower resource settings,” said Goodhand, pointing to the Southeast Asian Pharmacogenomics Research Network (SEAPHARM) and the Human Heredity and Health in Africa initiative (H3Africa) as examples of multi-national networks developing infrastructure and genomics capacity in low and middle income countries.
“The international genomics community has a responsibility to work together to effectively and efficiently role out clinical-based genomics care for the benefit of all,” said North, director of Australian Genomics and Murdoch Children’s Research Institute and lead author on the paper. “If we don’t get this right, patients will be the ones to suffer.”
“Without global inter-program dialogue and collaboration, clinical implementation stands to proceed in a haphazard fashion,” said co-author Brad Ozenberger, program official for the Data and Research Center for the All of Us Research Program at the U.S. National Institutes of Health. “This could mean inappropriate testing at high cost, inaccurate data interpretation, misdiagnosis, and policy that extends existing healthcare inequalities.”
“GA4GH can and does serve as a forum for these discussions,” said 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.”
This model will enable a “learning health system,” in which clinicians will benefit from the experiences of research-based genomics, and researchers will be able to access clinical grade data for improved hypotheses and analyses, ultimately leading to better patient care.
“Nearly every nation in the world has a different way of delivering healthcare, so no one approach will fit all countries,” said co-author Mark Caulfield, Chief Scientist at Genomics England. “But for genomic data to fully deliver on its promise, we need to share both our expertise and the data to enable enhanced patient care.”