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The sum of the whole
With the costs of human genome sequencing having fallen a million-fold since the technology first became availableóand with ever-increasing numbers of people electing to make their genetic and clinical data available for research, clinical and personal useómore than 70 leading healthcare, research and disease advocacy organizations spanning across 40 countries have banded together to form an international non-profit alliance dedicated to enabling secure sharing of genomic and clinical data.
As the parties involved have noted in official announcements, interpreting these genomic data sets "requires an evidence base for biomedicine that is larger than any one party alone can develop, and that adheres to the highest standards of ethics and privacy," and so they say they have come together recognizing "that the public interest will be best served if we work together to develop and promulgate standards (both technical and regulatory) that make it possible to share and interpret this wealth of information in a manner that is both effective and responsible."
The consortium is still only in its early stages of organizing and refining its structure and goals, and is known, as yet, only generically and colloquially as the Global Alliance. But even without a catchy name or all the i's dotted and t's crossed, the parties feel that now, several months after 50 colleagues from eight countries met in New York City, the time had come to make their presence more widely known to continue momentum and draw more organizations into their fold. That effort has including the publishing of a white paper, which can be found on the website of the Broad Institute of MIT and Harvard, one of the nine organizations represented by eight people on the Organizing Committee of the Global Alliance at the New York meeting held in late January.
During the meeting, the several dozen colleagues discussed the current challenges and opportunities in genomic research and medicine and how the groups involved in the alliance could work together to foster medical progress.
"Just a few years ago, only a handful of human genomes had been sequenced; today there are many tens of thousands of sequenced genomes, and it is widely expected that in the coming years millions of people will choose to have their genome sequenced for research, clinical, or personal use," notes David Altshuler, one of the Organizing Committee members, as well as a founding core member of the Broad Institute and director of the Broad's Program in Medical and Population Genetics since 2003. "The ability to collect and analyze large amounts of genomic and clinical data presents a tremendous opportunity to learn about underlying causes of cancer, inherited and infectious diseases, and individual responses to drugs. Moreover, for patients with cancer and rare inherited diseases, genome sequencing is already becoming a powerful tool for diagnosis and decisions about therapy."
"We are producing so much data from sequencing now that the average user of data cannot download it," adds Tom Hudson, another Organizing Committee member and the president and scientific director of the Ontario Institute for Cancer Research. "One of the things we see as we sequence more and more tumors in clinical trials to find out which patients will respond best to which therapies, for example, is that from patient to patient you see immense heterogeneity in tumor genomes. Every patient's tumor is very different, so it's really through collaboration and sharing of drug response and other data that we can pick up the signal for what really works best for cancer and other diseases."
But more than simply figuring out how to manage and share data, he notes, a prime concern coming out of the January meeting was that the greatest need right now was for a common framework of international standards that ensures that genomic and clinical data are shared in an effective and responsible manner as well as an interpretable one.
To those ends, the alliance is intended to include leading healthcare providers, research institutions, disease advocacy groups, life science and information technology companies and others to ensure the broadest and most effective set of perspectives and skills.
"This is an excellent initiative and we are very proud to be a part of it," said Janet Thornton, director of the EMBL-European Bioinformatics Institute in the United Kingdom, as part of a news release announcing the participation of the European Molecular Biology Laboratory (EMBL) and its five sites in various European locations in the alliance. "As part of the Global Alliance and members of ELIXIR [which shares similar aims with the alliance], we can help make this vision a reality. Sharing data and information is at the heart of our mission, and developing resources that enable innovation is a large part of what we do. The European Genome-phenome Archive, the Embassy Cloud, and BioMedBridges are just a few projects at EMBL-EBI that can support the alliance's technical standards for interoperability as well as for data access and security."
In announcing the Global Alliance to members of the Human Variome Project Consortium and the consortium's involvement with the alliance, Prof. Richard Cotton, the Human Variome Project's scientific director, said, "The envisioned work of the Global Alliance is entirely complementary to the Human Variome Project's work in ensuring the free and open sharing of genetic variant information is integrated into routine clinical practice in every country of the world. As a founding partner of the Global Alliance, we now have the opportunity to ensure that our work on the clinical side of medical genetics and genomics is of use and available to the research world."
Currently, valuable genetic and clinical data are isolated, notes Hudson, whether by research organization, country or disease area, thus limiting their impact.
"The idea behind the alliance is to break down barriers so that as much data as possible can be shared and used in studies. This will also allow researchers to tackle larger, more complex research problems," he says.
In addition to the Broad and the Ontario Institute for Cancer Research, other organizations represented in the alliance's Organizing Committee are the A-T Children's Project, Brigham and Women's Hospital, the Howard Hughes Medical Institute, Massachusetts General Hospital, Memorial Sloan-Kettering, the Wellcome Trust Sanger Institute and the University of California, Santa Cruz. To find out whom else is involved and more details about the alliance's goals and driving philosophies, see the white paper at www.broadinstitute.org/files/news/pdfs/GAWhitePaperJune3.pdf.