by: Valerie Florance and Beth Russell
In January 2015, President Obama announced his proposed plan to fund an Initiative for Precision Medicine (https://www.whitehouse.gov/precision-medicine). Among its components, this initiative proposed providing $130 million to NIH to support creation of a national voluntary research cohort of a million or more people (http://www.nih.gov/precisionmedicine/).
At the core of the Precision Medicine Initiative is the notion that “…by harnessing measurements of multiple modalities – not just clinical and genomic evaluations, but environmental exposures, daily activities, and many others, we can develop a much more comprehensive view of the patient’s state and its trajectory over time.”1
The goals of the Precision Medicine Initiative are closely aligned with those of the Harvard School of Medicine’s PIC-SURE Center of Excellence for Big Data Computing, which was established in September 2014 as part of the NIH Big Data to Knowledge (BD2K) Initiative’s Centers of Excellence for Big Data Computing program (https://datascience.nih.gov/bd2k/funded-programs/centers). The term PIC-SURE is an abbreviation for Patient-Centered Information Commons: Standardized Unification of Research Elements. The PIC-SURE Center is enabling creation of a large, multi-center, patient-centered information commons via a set of scalable tools and methods. The fundamental premise of work at this center is that a patient-centered information commons will help predict disease risk and supports precision health interventions by bringing together many types of health-related information about an individual patient, such as genomic data, imaging and lab tests, environmental data, behavioral and clinical findings, to give as complete a picture of possible of the individual’s health status.
On June 24th and 25th, the PIC-SURE BD2K Center of Excellence hosted a 1.5 day conference entitled Precision Medicine 2015 Patient Driven. The PIC-SURE team put together a thought-provoking conference that focused discussion on implementation-level activities of precision medicine, including legal, socio-cultural, technical and economic issues that could affect successful creation of the envisioned one-million person cohort that includes both sick and healthy people. The conference, sponsored by the PIC-SURE Center, emphasized the need for collaboration among patient, doctors and researchers and explored the ramifications of patient control of personal health data on research, on data sharing and on data-driven treatment.
The PIC-SURE Precision Medicine 2015 Patient Driven meeting interwove panels and keynote talks, allowing plenty of time for what proved to be a lively dialogue between the audience and the speakers. The meeting began with the first of three keynote talks, from Matt Might, PhD, University of Utah, the parent of a child with a rare disease, who spoke on the topic “An Algorithm for precision medicine: What do you do when n=1.” On day 2, Keynote speaker Linda Avey, co-founder & CEO of We Are Curious, and co-founder of 23andMe, asked the question “Who will lead in precision medicine? “ The final keynote presentation, by Arlene Sharpe , a researcher at the Harvard School of Medicine, was entitled “How basic research can jump-start precision treatments: Immunotherapy for cancer.”
Two general themes framed panel presentations, (1) Patients are the right leaders for precision medicine and (2) Injecting precision medicine into medical practice. In each, panelists debated and discussed with the audience a number of ideas about how best to build and manage a national-scale resource of personal health data. After each talk or panel, the question-answer sessions brought additional ideas into the discussion. Whether you are a researcher, a clinician, or a patient, these sessions and discussions are well worth the time it takes to watch and listen.
Theme 1, Patients are the right leaders for precision medicine, had two panels on Day 1 that were both titled “hitting the ground running at the frontlines”. These panels mixed speakers representing research advocacy groups like the Multiple Myeloma Research Foundation and the Dr. Susan Love Research Foundation with technology specialists from Cloudera and SAGE Bionetworks and scientist/advocates like Eric Minikel and Sonia Vallabh, who do research on a condition of personal importance to them.
Theme 2, Injecting precision medicine into medical practice, had three panels. The first, “Whose data is it anyway?”, covered law and policy issues; the second, “Scaling up for populations” focused on how best to bring clinical practitioners into the discussion and help them work with patients on precision medicine issue; and the final panel “How much does it cost and who will pay for precision medicine?” had speakers from Aetna and other companies discussing both the costs and structure of clinical trials.
To build a patient -driven model for biomedicine, the clinical, research, and patient communities all face significant challenges. Some of these are computational, e.g. how do we securely collect and analyze distinct data streams in real-time to guide medical decisions? Some challenges are cultural, e.g. how do we incentivize sharing? Another challenge is how to incorporate patient-scientists and citizen-scientists in the biomedical research enterprise. This need was identified in many of the presentations, but was most relevant to the keynote by Matthew Might. Other challenges are ethical: who owns the data? What regulatory reforms will enable both sharing and patient-driven consent controls? This meeting brought the research, clinical, and patient communities together to ask such questions and to begin to formulate answers. Addressing these challenges requires rigorous scientific research, community building, and well-crafted policy, all undertaken with full patient engagement.
The official meeting agenda can be found at https://www.eventbrite.com/e/precision-medicine-2015-patient-driven-tickets-16401955691 and conference videos are available on the PIC-SURE website at http://www.pic-sure.org/events/precision-medicine-2015-patient-driven. An annotated version of the agenda can be found here which summarizes the sessions and lists approximate start times on the video feed for each session.
 Ten things we have to do to achieve precision medicine. Major but surmountable hurdles should be addressed now to hasten the advent of precision medicine. Kohane, Isaac. Science, 2 July 2015, Vol. 349 Issue 6243: 23-38