Advancing Personalized Medicine from Theory to Practice

When your genomic information informs your increased risk for coronary artery disease, and you make lifestyle changes to reduce your risk, personalized medicine has revealed itself. If you have a gene variation that influences how you metabolize a blood thinner, and your physician prescribes dosing instructions accordingly, the practice of medicine is now safer, well-timed, accurate, and cost-effective for you and our healthcare system. Challenges do remain: Evidence-based research establishing the utility of personalized medicine in the clinic is lacking; essential training in genetics and genomics must still be incorporated into medical school education; and the integration of genomic data into electronic medical records and routine clinical care is needed.

Advances in technology and decreases in cost mean a considerable quantity of genetic data is being generated. However, in order for these advances to have a broader impact, physicians and their patients must first ascend the learning curve associated with actually employing genetic data in clinical decision-making and then stay on top of new understandings of the molecular basis for disease. The true practice of personalized medicine will only be realized when we can rapidly translate the molecular information we uncover into behavior change and/or medical care.

This is the goal of the Coriell Personalized Medicine Collaborative® (CPMC®),  a forward-looking research study involving volunteer study participants, physicians, scientists, ethicists, genetic counselors, pharmacists, and IT experts seeking to determine the usefulness of personal genome information in health management.

How it works:  Study participants submit a saliva sample for genome analysis and answer online health questionnaires about lifestyle, medical and family histories. In return, participants receive personalized risk assessments for potentially actionable health conditions, and for responses to commonly prescribed medications. Participants are asked to complete periodic follow-up surveys to determine whether receipt of this information influenced their personal health decisions.

The CPMC research study only reports on conditions deemed “potentially actionable” – where risk can be reduced by individual action (behavior or lifestyle) or by medical action (screening, preventive treatment, or early intervention). To determine which conditions are “potentially actionable” and thus returned to study participants, the CPMC research study engages two independent, expert advisory boards which convene twice a year to advise on the actionability of conditions and vote to release them. In this way, the CPMC is helping to integrate the latest advances in personalized medicine from the research bench into clinical care.

Some may call this a conservative approach; Coriell believes that by being measured in our return of genomic information today, and coupling it with education and assistance, we are preparing physicians and patients for a near future when they will have access to the incredible amount of genome information available.

What study participants receive:  Currently reported actionable health conditions include coronary artery disease, lupus, melanoma, age-related macular degeneration, prostate cancer, iron overload, and types 1 and 2 diabetes. Risk reports for medication response are also provided; at this time, personalized reports indicating how participants will respond to Plavix^®, a commonly used drug for the prevention of blood clots, are available. To help with the interpretation of genomic information, research study participants and their physician(s) have zero-cost access to CPMC genetic counselors and pharmacists. 

Who is participating:  The CPMC has more than 5,000 participants already enrolled, and another 2,000 are joining through a partnership with Ohio State University Medical Center.

Looking forward:  The CPMC study is positioned to significantly contribute to comparative effectiveness research that, when appropriately designed, can accelerate the intelligent adoption of personalized medicine. As the community committed to the advancement of personalized medicine continues to grow, the CPMC research study aims to serve as a model for the ethical, legal and responsible implementation of best practices for genome-informed personalized medicine.