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UCSF Steps Forward to Lead Advances in Precision Medicine

Published: Thursday, June 20, 2013
Last Updated: Thursday, June 20, 2013
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The world’s foremost thinkers, creators and innovators convened last month to identify new approaches and spur action to make medicine more predictive, preventive and precise.

Now, the ideas generated at the summit in May are moving ahead across the University and the nation as part of many focused efforts to make precision medicine a reality.

The promise of precision medicine – the next revolution in health – is described by leaders, including Francis Collins, MD, PhD, director of the National Institutes of Health, in a newly released four-minute video highlighting the urgent need to fundamentally transform the practice of medicine to improve health and save lives.

The emerging field of precision medicine aims to harness the vast advances in technology, genetics and biomedical research to better understand the roots of disease and to transform heath care so that prevention, diagnosis and treatment are precisely tailored to individuals, to develop targeted therapies, and to improve care to patients worldwide.

“The OME summit was unique in being primarily an external event with the purpose of creating new ways of thinking, cultivating relationships between like-minded leaders and identifying pilot projects to advance precision medicine, a topic of tremendous and timely importance to patients everywhere,” said UCSF Chancellor Susan Desmond-Hellmann, MD, MPH.

The name OME comes from the suffix -ome, which in biology is used to connote a totality of precise elements and their interrelationships. Thus the entirety of a person’s genes forms a genome, proteins form the proteome, microbes form the microbiome.

One of the outcomes of the summit was the development of 11 innovative ideas – proposed initially as "quick pitches" – that tackled the spectrum of issues associated with informing and engaging citizens to take control of their health, making big data accessible to inform research and health care while maintaining patient privacy; and addressing regulatory and cost barriers surrounding precision medicine.

Myriad efforts are already under way at UCSF to advance precision medicine through scientific discovery, advocacy and public education. The University is at the cutting edge of applying various “-omics” – including genomics – and informatics to precision medicine.

One of the nation’s largest and most diverse genomics projects, the Kaiser Permanente Research Program on Genes, Environment and Health (RPGE), has genotyped the DNA and analyzed the length of chromosome tips in more than 100,000 Kaiser Permanente members who agreed to be part of the research. Neil Risch, PhD, director of the UCSF Institute for Human Genetics, co-directs the RPGE, which significantly accelerates research into conditions such as cardiovascular disease, diabetes, cancers, mental health disorders, and age-related diseases such as Alzheimer’s disease.

The University also is embarking on major new programs that span the scope and address the needs of precision medicine, from molecular research to data storage, genomic education and patient care.

“Precision medicine is important to UCSF and the world because of its promise to transform health,” Desmond-Hellmann said. “It also can powerfully inform our core missions at UCSF  – research, education and patient care. To encourage innovation among our scientists and scholars as well as ensure that our efforts in this field are inclusive and effective, we are creating a platform in which you can be involved. Additional information on how to participate is forthcoming.”

Since the summit in May, a number of exciting developments are evolving in precision medicine at UCSF and beyond, including:

•    The formation of the Global Alliance, which involves UCSF and nearly 70 other health care, research and advocacy organizations – many of them OME participants – in an unprecedented partnership that aims to create an international platform for sharing secured data;
•    The launch of the public awareness campaign designed to inform and inspire people to learn about the promise of precision medicine and to make a simple dedication to a person they care about;
•    The establishment of the new UCSF Center for Digital Health Innovation to develop new technologies, apps, and systems that will generate enormous new data sets to inform diagnostic and treatment approaches precision medicine; and
•    The creation of a precision medicine platform at UCSF, which will engage faculty leaders from areas such as “-omics” medicine, basic discovery, computational health science, digital health and clinical discovery to build an information commons, as one of the first steps toward a “knowledge network.”

Creating a Precision Medicine Platform at UCSF

As outlined above, UCSF’s efforts are expected to include new programs in bioinformatics and health care data analytics, and the development of an infrastructure or platform to support genomic medicine, digital informatics and a robust knowledge network.

UCSF also is partnering with the Food and Drug Administration and other government leaders to tackle some of the difficult public policy issues that were discussed at the summit, including the significant issue of maintaining patient privacy.

Even before the OME summit, UCSF had been a national leader in advancing the field. Precision medicine emerged as a concept in the late 1990s and has roots in the fields of genetics, modern biomedical research and evidence-based medicine. It was first formally spelled out in a 2011 report issued by the National Academy of Sciences, which was co-authored by Desmond-Hellman.

That report that called for the creation of a “knowledge network” that would be centered on a dynamic, interactive data repository, or “information commons,” that would link layers of data to share information.

The report, titled “Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease,” [PDF] was the result of a one-year study conducted by an NAS committee co-chaired by Desmond-Hellmann, and Charles Sawyers, MD, a Howard Hughes Medical Institute investigator and the inaugural director of the Human Oncology and Pathogenesis Program at Memorial Sloan-Kettering Cancer Center, at the special request of Francis Collins, MD, PhD, director of the National Institutes of Health. Other UCSF contributors to this landmark report included Keith Yamamoto, PhD, vice chancellor for research, and Bernard Lo, MD, longtime medical ethicist.

Desmond-Hellmann noted the current disconnect between the wealth of scientific advances in research and the incorporation of this information into the clinic, as well as the fact that researchers don’t have access to comprehensive and timely information garnered from patients in the clinic.

“Opportunities are being missed to understand, diagnose and treat diseases more precisely, and to better inform health care decisions,” she said.

Engaging the Public to Make Medicine Precise

The lynchpin in transforming health, though, will ultimately be the individual patients worldwide who see the potential benefits of precision medicine and step forward to make it happen by giving their consent to safely and privately share their health data, so scientists and clinicians can learn from the wealth of information.

The vision of precision medicine is that genomic and other health data will flow – safely and privately – in two directions, both in using population data to direct more precise 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.

Enabling that to happen will require both the ability to guarantee that this information will be properly de-identified so it can be safely and privately shared, and to gain the trust of the public to share the data.

That notion is at the heart of the MeForYou public awareness campaign, which UCSF launched on the final day of OME. Members of the UCSF community and general public are encouraged to participate in the MeForYou campaign to help raise awareness about how data from each one of us benefits all of us.

“Everyone has a part in the solution to the problem of bringing precision medicine more quickly into practice,” said Harvey Fineberg, MD, president of the Institute of Medicine, during the OME summit. “Part of the goal is not only to mobilize the profession and government payers, but also to mobilize the public in understanding the opportunity that precision medicine represents, and to have the expectation and demand for the kind of information about yourself and your family that you’re entitled to have.”

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