UCSF Chancellor Susan Desmond-Hellmann convened a summit on precision medicine in May.
UC San Francisco has joined nearly 70 other health care, research and patient advocacy organizations, including the National Institutes of Health, in a global alliance to enable researchers and physicians around the world to share genomic and clinical data.
The effort, of which UCSF Chancellor Susan Desmond-Hellmann, MD, MPH, was a founding participant, is a partnership on an unprecedented scale that aims to create an international platform for data-sharing and overcome the hurdles that prevent patients, researchers and physicians from sharing de-identified data.
This data – to be standardized and shared with the consent of patients – is considered the critical link in both advancing biomedical research and ultimately enabling the emerging field of precision medicine to improve health on a national and international scale.
“In the last decade, we have accumulated vast amounts of knowledge on the human genome and the molecules associated with disease. We’ve made ongoing headway in understanding environmental factors in disease. And with the advent of electronic health records, a wealth of data exists across large and very diverse populations,” said Desmond-Hellmann. “The challenge now is to find a way to access and integrate these layers of data so they can be used to improve health, while protecting the safety and privacy of patients throughout the world,” she said.
As chancellor of the leading university exclusively focused on health, Desmond-Hellmann convened the OME Precision Medicine Summit at UCSF in May, in an effort to foster alliances and projects of this kind. A major goal of that Precision Medicine Summit was to raise public awareness and trust to overcome privacy concerns about sharing health data.
“This global alliance is a critical major step in overcoming those concerns to make precision medicine a reality,” Desmond-Hellmann said.
Since the completion of the Human Genome Project, the cost of sequencing the complete genetic blueprint of an individual has dropped by a factor of one million, bringing the total cost to less than $1,000.
As the cost drops further, genomic data will be increasingly accessible for large-scale use in biomedical research and drug development, as well as in diagnostics and medical decisions for individuals.
The vision of precision medicine and the global alliance is that the responsibly managed and shared genomic health data will flow in two directions: both in using population data to direct more precise and appropriate care to an individual patient, as well as in collecting that patient’s genetic data to inform the broader scientific community on links between genetics, health, the environment and response to therapies.
Accelerating Progress in Life Sciences and Medicine
“The ability to collect and analyze large amounts of genomic and clinical data presents a tremendous opportunity to learn about the underlying causes of cancer, inherited and infectious diseases, and responses to drugs,” said David Altshuler, deputy director of the Broad Institute of Harvard and MIT, who is spearheading the Global Alliance. “However, we will only realize this opportunity if we can establish effective and ethically responsible approaches to share data. We believe that by working together and by committing to the principle that each individual has the right to decide whether and how broadly to share their personal health information, we can accelerate progress in life sciences and medicine.”
The ability to collect and analyze large amounts of genomic and clinical data presents a tremendous opportunity to learn about the underlying causes of cancer, inherited and infectious diseases and responses to drugs. However, we will only realize this opportunity if we can establish effective and ethically responsible approaches to share data.”
Among the obstacles are making genomic data and tools interoperable on common platforms in a secure and trusted manner, establishing common practices for data-sharing, developing the necessary infrastructure to collect and analyze a wealth of genetic and other biological data and using that data to create a global “knowledge network” for researchers and physicians. This concept was first outlined in a 2011 National Academy of Sciences report co-authored by UCSF Chancellor Desmond-Hellmann on precision medicine.
“Understanding the role of genome sequence in disease will require a technological infrastructure adequate to analyze millions of genomes with associated clinical information,” said David Haussler, director of the Center for Biomolecular Science & Engineering at UC at Santa Cruz and an investigator of the Howard Hughes Medical Institute. “If we design it up front for interoperability, and to include the mechanisms needed to manage privacy and consent, we will accelerate progress immeasurably.”
Creating an International Partnership of Key Stakeholders
In late January 2013, Altshuler brought together 50 colleagues from eight countries to discuss the current challenges and opportunities in genomic research and medicine, and how these groups could work together to foster progress in biomedicine.
Among them were Desmond-Hellmann and UCSF alumnus Charles Sawyers, MD, of Memorial Sloan-Kettering Cancer Institute, who co-authored the definitive NAS report on precision medicine.
The group 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 health care providers, research institutions, disease advocacy groups, life science and information technology companies, and others, to facilitate this.
This alliance is now in the beginning stages of formation. Following the circulation of a White Paper, organizations from Africa, Asia, Australia, Europe, and North and South America have pledged to work together to create an international, non-profit, non-governmental organization modeled on the World Wide Web Consortium. The resulting organization will work to develop this common framework and the technology platforms that will be needed to share data throughout the world, while protecting participant confidentiality and privacy.
Ultimately, this international framework is intended to enable data sharing regardless of where that data is sourced or housed to better inform life sciences research and patient care.
“We have made great strides in saving lives based on more precise therapies, but there is still so much we don’t know in terms of what causes most diseases and how to prevent and treat them,” Desmond-Hellmann said. “So much of that knowledge is available right now in health records and genetic data throughout the world, but we need the tools to access it, so we can make sense of that data and provide personal, predictive and precise care to our patients.”
Photo by Deanne Fitzmaurice