The University of California, Santa Cruz, is among more than 70 leading research, health care, and disease advocacy organizations that have taken the first steps to form an international alliance dedicated to enabling secure sharing of genomic and clinical data.

David Haussler, distinguished professor of biomolecular engineering and director of the Center for Biomolecular Science and Engineering at UC Santa Cruz, is a member of the alliance's organizing committee. He said the alliance, now in the beginning stages of formation, is planning for a future in which genome sequencing will be widely used in clinical medicine, given the rapidly falling cost of sequencing. The resulting wealth of genomic data, integrated with clinical information, could greatly accelerate progress in biomedical research if this information can be shared by researchers without compromising the principles of patient consent and confidentiality. In addition, the interpretation of an individual patient's genome in clinical practice would be transformed by the ability to compare it to a large, shared compendium of genomic and clinical data, creating a new era of precision medicine.

Technological infrastructure

"Understanding the role of genome sequence in disease will require a technological infrastructure adequate to analyze millions of genomes with associated clinical information," Haussler said. "If we design it up front for interoperability, and to include the mechanisms needed to manage privacy and consent, we will accelerate progress immeasurably."

In late January, Haussler and 49 colleagues from eight countries met to discuss the current challenges and opportunities in genomic research and medicine. They concluded that the greatest need was a common framework of international standards designed to enable and oversee how genomic and clinical data are shared in an effective, responsible, and interpretable manner. They envisioned a trusted and authoritative international partnership, intended to include leading healthcare providers, research institutions, disease advocacy groups, life science and information technology companies, and others, to facilitate this. 

Following the circulation of a white paper, more than 70 organizations from Africa, Asia, Australia, Europe, and North and South America have joined together to form a non-profit global alliance that will work to develop this common framework, which will enable researchers and clinicians to learn from shared data while protecting participant autonomy and privacy. Each organization, including UC Santa Cruz, has signed a non-binding Letter of Intent, pledging to work together to create a not-for-profit, inclusive, public-private, international, non-governmental organization (modeled on the World Wide Web Consortium, W3C) that will develop this common framework. They have committed to furthering innovation by supporting the creation of open technology standards to support the development of interoperable information technology platforms that will embody these principles and accelerate progress in biomedicine.

Questions of ethics, privacy

Member organizations recognize that when discussions occur about sharing large amounts of data, important questions about ethics and privacy naturally arise. Accordingly, members have committed to work together to establish a framework so that participants will have the right to share genomic and clinical information to advance human health as broadly or narrowly as they are comfortable with, including not at all.

Haussler is one of eight organizing committee members, along with David Altshuler from the Broad Institute of Harvard and MIT; Peter Goodhand and Thomas Hudson from the Ontario Institute for Cancer Research; Brad Margus from the A-T Children's Project; Betsy Nabel from Brigham and Women's Hospital; Charles Sawyers from Memorial Sloan-Kettering; and Michael Stratton from Wellcome Trust Sanger Institute.

"Medicine is in the midst of a revolution, and as we enter the era of precision medicine and widespread genome sequencing, we are at a crossroad," said Betsy Nabel, M.D., president of the Brigham and Women's Hospital in Boston and a former director of the National Heart Lung and Blood Institute at NIH. "If we continue to work in silos, each lacking the critical mass of data and methods needed to make progress and care for patients we will miss this tremendous opportunity to improve human health and save lives. The physicians and scientists of Brigham and Women's Hospital believe that, through the work of the global alliance, we will have access to the data we need to realize the promise of genomic medicine."

"Cancer is one of the earliest and most compelling areas of medicine in which genomics is providing benefit to patients," said Charles Sawyers, chair of the Program in Human Oncology and Pathogenesis at Memorial Sloan Kettering Cancer Center and president of the American Association for Cancer Research. "Our ability to provide accurate information to patients, and to learn why some people respond to therapy and others do not, requires the international approach and shared standards that the alliance aims to create."

Experience with genome databases

Haussler's group at UC Santa Cruz brings extensive experience with large genome databases and the Internet-based exchange of biomedical knowledge. His team created the computational infrastructure to assemble the first draft human genome sequence and used this assembly as a basis for building the UCSC Genome Browser, the most popular tool for accessing human genomic data. They recently built the cancer genomics database for the National Cancer Institute, the UCSC Cancer Genomics Hub (CGHub), currently the largest shared cancer genome database in the world. All of this work relies on novel ideas and creative methods in bioinformatics developed at UC Santa Cruz for the purpose of making sense of mountains of genomic data.

According to Haussler, the global alliance aims to work with partners and operating entities to develop the infrastructure and technology platforms needed to enable the sharing and integration of genomic and clinical data in a manner that is secure, controlled, and protective of participant autonomy, privacy, and security. These platforms not only would serve biomedical researchers, but could also support diagnostic services for medical practitioners.

"We want to create the infrastructure that will enable clinical applications as well as academic research to flourish," Haussler said. "UCSC's expertise in large-scale genome databases will enable the global alliance to eliminate the barriers to research and precision medicine created by the current non-interoperable medical information silos."