Archive for February, 2015


Feb 13 2015

Informaticians on the “Precision Medicine” Team

by at 8:34 am

My first recollection of the term “Precision Medicine” (PM) is from a talk by Harvard Business School’s Clayton Christensen on disruptive technologies in healthcare and personalized medicine in 2008. He contrasted precision medicine with intuitive medicine, saying, “the advent of molecular diagnostics enables precision medicine by allowing physicians to delineate conditions that are likely constellations of diseases presenting with a handful of symptoms.” The term became mainstay after NRC’s report, “Toward precision medicine: Building a knowledge network for biomedical research and a new taxonomy of disease.” Now, we converge on the NIH’s definition– PM is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle.

“Cures for major diseases including cancer are within our reach if only we have the will to work together and find them.  Precision medicine will be the way forward,” says Dr. John Marshall, head of GI Oncology at MedStar Georgetown University Hospital.

The main question in my mind is: How can we apply PM to improve health and lower cost? Many sectors/organizations are buzzing with activity around PM to help answer this question.

NIH is developing focused efforts in cancer to explain drug resistance, genomic heterogeneity of tumors, monitoring outcomes and recurrence and applying that knowledge in the development of more effective approaches to cancer treatment. In a recent NEJM article, Drs. Collins and Varmus describe NIH’s near-term plan for PM in cancer and a longer-term goal to generate knowledge that is broadly applicable to other diseases (e.g., inherited genetic disorders and infectious diseases). These plans include an extensive characterization and integration of health records, behavioral, protein, metabolite, DNA, and RNA data from a longitudinal cohort of 1 million participants. The cost for the longitudinal cohort is roughly $200M to expand trials of genetically tailored treatments, explore cancer biology, and set up a “cancer knowledge network” for sharing this information with researchers and oncologists.

FDA is working with the scientific community to ensure that the public can be confident that genomic testing technology is safe and effective while preserving innovation among developers. The FDA recently issued draft guidance for a framework to regulate laboratory-developed tests (LDTs). Until now, most genomic testing is done through internal custom developed assays or commercially available LDTs. The comment period just ended on Feb 2.

Pharma/Biotech companies are working to discover and develop medicines and vaccines to deliver superior outcomes for their customers (patients) by integrating “Big Data” (clinical, molecular, multi-omics including epigenetics, environmental, and behavioral information).

Providers, health systems, and Academic Medical Centers are incorporating appropriate molecular testing in the care continuum and actively participating in clinical guideline development for PM testing and use.

Public and private Payors are working to appropriately determine clinical utility, value and efficacy of testing to determine reimbursement levels for molecular diagnostic tests – a big impediment for PM testing right now. Payors recognize that collecting outcomes data is key to determining clinical utility and developing appropriate coding and payment schedule.

Diagnostic companies are developing and validating new diagnostics to enable PM, especially capitalizing on the new value-based reimbursement policies for drugs. They are also addressing joint DX/RX approval processes with the FDA.

Professional organizations are setting standards and guidelines for proper use of “omics” tests in a clinical setting – examples include AMA’s CPT codes, ASCO’s QOPI guidelines, or NCCN’s compendium.

Many technology startups are disrupting current models in targeted drug development and individualized patient care to deliver on the promise of PM. mHealth domain is rapidly expanding with innovative mobile sensors and wearable technologies for personal medical data collection and intervention.

As informaticians and data scientists, we have atremendous opportunity to collaborate with these stakeholders to contribute in unique ways to PM:

  1. Develop improved decision support to assist physicians in taking action based on genomic tests.
  2. Develop common data standards for molecular testing and interpretation
  3. Develop methods and systems to protecting patient privacy and prevent genetic discrimination
  4. Develop new technologies for measurement, analysis, and visualization
  5. Gather evidence for clinical utility of PM tests to guide decisions on utility
  6. Develop reference databases on the molecular status in health and disease
  7. Develop new paradigms for clinical trials (N of one trials, basket trials, adaptive designs, other)
  8. Develop methods to bin patients by mutations and pathway activation rather than by tissue site alone.
  9. Create value from Big Data

What are your ideas? What else belongs on this list?

Jessie Tenenbaum, Chair, AMIA Genomics and Translational Bioinformatics shares: “It’s an exciting time for informatics, and translational bioinformatics in particular. New methods and approaches are needed to support precision medicine across the translational spectrum, from the discovery of actionable molecular biomarkers, to the efficient and effective storage and exchange of that information, to user-friendly decision support at the point of care.”

A PricewaterhouseCoopers analysis predicts the total market size of PM to hit between $344B-$452B in 2015. This includes products and services in molecular diagnostics, nutrition and wellness, decision support systems, targeted therapeutics and many others. For our part, at ICBI, we continue to develop tools and systems to accurately capture, process, analyze, and visualize data at patient, study, and population levels within the Georgetown Database of Cancer (G-DOC). “Precision medicine has been a focus at Lombardi for years, as evidenced by our development of the G-DOC, which has now evolved into G-DOC Plus. By creating integrated clinical and molecular databases we aim to incorporate all relevant data that will inform the care of patients,” commented Dr. Lou Weiner, Director, Lombardi Comprehensive Cancer Center who was invited to the White House precision medicine rollout event on January 30.

Other ICBI efforts go beyond our work with Lombardi. With health policy experts at theMcCourt School of Public Policy, we are working to identify barriers to implementation of precision medicine for various stakeholders including providers, LDT developers, and carriers. Through our collaboration with PRSM, the regulatory science program at Georgetown, and the FDA, we are cataloging SNP population frequencies in world populations for various drug targets to determine broad usefulness of new drugs. And through theClinGen effort, we are adding standardized, clinically actionable information to variant databases.

The President’s recent announcements on precision medicine have raised awareness and prompted smart minds to think deeply about how PM will improve health and lower cost. We are one step closer to realizing the vision laid out by Christensen’s talk in 2008. ICBI is ready for what’s next.

Let’s continue the conversation – find me on e-mail at or on twitter at @subhamadhavan

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