14 October 2016
HINXTON, UK — The Global Alliance for Genomics in Health (GA4GH) has appointed Ewan Birney PhD, Director of the European Bioinformatics Institute (EMBL-EBI) and nonexecutive Director of Genomics England, to lead the consortium’s efforts to accelerate medical and research advancements through the responsible sharing of genomic and clinical data. Birney will assume the new role on 1 November.
DNA sequencing technology and analysis now offer crucial insights into disease and disease risk. The dramatic increase in new genomic information has the potential to transform both healthcare and biomedical research. Already, rapid DNA sequencing can allow some people with rare diseases to finally identify the genetic cause of their illness, ending their family’s protracted ‘diagnostic odyssey’. Predictive genetic testing can also empower individuals to take steps, in advance, to reduce their risk of developing a disease.
Beyond immediate clinical applications, on-going research into the nature of cancer is helping to identify genomic changes in tumors that can be targeted, leading to better treatments.
The GA4GH brings together over 430 data-science, healthcare, advocacy and life-science organizations – both commercial and not-for-profit – to unlock the potential of genomic data for improving human health. Its projects are designed to enable the large-scale sharing of data on genome sequences and clinical outcomes, which will allow researchers to find the molecular patterns underlying disease and health. Responsible, voluntary, secure data sharing will make it possible to draw on rich, international datasets and exchange knowledge globally, opening up tremendous possibilities for biomedical research.
The routine use of genomics in healthcare will generate a vast resource for secondary research, which could be used for discovery within an appropriate framework for ethics and patient consent.
“DNA sequencing is starting to make a big impact in healthcare, and we need to make sure research and healthcare are good partners,” says Birney, who offers his thoughts at Ewan's Blog: Bioinformatician at large. “The technology has become far more accessible to users, and all the major digital, policy and medical landscapes are starting to converge. This is very good news for patients, clinicians and researchers, but to keep our momentum we need all the major players and innovators to focus on achieving shared goals.”
The GA4GH has covered a lot of ground since its founding meeting in 2013. Individual membership doubled in the past year to more than 800, representing 70 countries. GA4GH working groups and task teams have been addressing data standards and developing tools and resources, such as the Genomics API that will enable diverse systems in different countries to work together seamlessly.
To show how these tools can help transform genomic medicine and improve human health through data sharing, GA4GH has catalysed clinical demonstration projects such as Matchmaker Exchange, Beacons and BRCA Exchange to test the waters.
As Thomas Hudson MD of AbbVie, outgoing Chair of GA4GH, says, “The Global Alliance has grown very quickly in a short time, and all of our members acknowledge that working in silos with incompatible tools and methods is not the way. We have put a huge amount of effort into establishing a new way of working that makes sense for our members, and will bring the most benefit to patients in the longer term. Ewan brings a lot of experience in orchestrating large scientific consortia, and I am confident the Alliance is in good hands.”
Nazneen Rahman PhD of the Institute of Cancer Research (ICR) in London, a member of the GA4GH Steering Committee, also looks forward to working with Birney. ‘The international reach and cross-disciplinary representation of the GA4GH puts us in a unique position to harness the power of genomics to make meaningful impacts on global health,’ she says. ‘Under Ewan’s energetic leadership, I have no doubt the GA4GH will continue to flourish.”
The GA4GH, initiated by the Broad Institute of MIT and Harvard in the US, Wellcome Trust Sanger Institute in the UK and the Ontario Institute for Cancer Research in Canada, now comprises research organizations, start-ups and global companies [https://genomicsandhealth.org/members].
David Altshuler PhD MD, of Vertex Pharmaceuticals, the first Chair of GA4GH and a Steering Committee member, says: “Coordination between research, industry and healthcare delivery is critical to realizing the opportunities of genomics in medicine. As an original founder of GA4GH, I couldn’t be more pleased to see Ewan lead the organization towards implementation.”
Harold Varmus MD of Weill Cornell Medicine, Chair of the GA4GH Scientific Advisory Board, says: “I am personally delighted that Ewan, one of the world’s most accomplished genomic scientists, is willing to lead this organization. As Ewan knows and has shown in practice, making the best use of genomics data to advance human health hinges on data access. Under his leadership, the Alliance will be well positioned to continue its efforts to expand such access.”
Birney, incoming Chair of the Steering Committee, adds: “The Global Alliance is a remarkable endeavor, and I am looking forward to working with my colleagues across the world, from practicing healthcare to computational research, to deliver the genomic standards the world needs.”