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Challenges ahead, but precision medicine continues to grow

| Monday, Oct. 24, 2016, 9:00 p.m.
Dr. Adrian Lee, director of the Institute for Precision Medicine at UPMC.
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Dr. Adrian Lee, director of the Institute for Precision Medicine at UPMC.

Whose life hasn't been altered by the Internet? Be it email, smartphones or online banking, the Internet is integrated into the fabric of our everyday lives.

The move to digital data is having a major impact on medicine and health care. Patients can access their health records and test results via “patient portals,” and there is a rapid movement to patients being “seen” by their doctors over the Internet using telemedicine.

A relatively recent and far more powerful concept — enabled in part by digital data — is so-called personalized or precision medicine. Personalized medicine is a model of care that aims to provide individualized, patient-tailored care. Precision medicine is a further refinement of personalized medicine whereby specific, measurable features of a patient, such as genetics, are used to deliver individualized health care.

Precision medicine has grown rapidly in the past several years because of major advances in computational power, gene sequencing and molecular-level diagnoses. For example, the sequencing of the human genome, which contains about 3 billion base pairs, took more than 10 years and cost about $1 billion. This sequencing now can be done in weeks for a few thousand dollars. And as we have more ways of collecting digital data on patients (via wearable devices, for instance), we can develop more precise measures of patient outcomes to refine precision medicine.

A simple example of how precision medicine can be applied is the response of individuals to drugs — this is known as pharmacogenomics. Each person has a unique response based on his or her genetic background. We can now identify genes that are associated with an individual's responses to certain drugs, including the ability to metabolize the drug and the potential for harmful side effects.

Of course, we still face many challenges to creating precision medicine. For example, we may find that a patient with cancer has a specific genetic mutation but that no drug exists to exploit that vulnerability. In addition, the clinical research system currently tests drugs in large, diverse populations to determine the “average” response in all people, whereas the movement to precision medicine requires being able to identify exactly who will and who will not benefit from the drug being tested — and why.

In 2015, President Obama announced the Precision Medicine Initiative, an effort to collect biosamples, such as blood and urine, and health information from 1 million people in the U.S. The goal of this initiative is to analyze these samples and data to better understand the differences among individuals.

The Clinical and Translational Science Institute (CTSI) at the University of Pittsburgh was selected as one of the first sites in this effort and will enroll 175,000 residents in Western Pennsylvania in the PA CARESforUS program. This project, along with related research conducted at Pitt, will provide unique information about health and genetics that will lead to tremendous advances in health care for this region.

PA CARESforUS will be launched in early 2017, but anyone interested in participating can join Pitt+Me right now (pittplusme.org) and be among the first to enroll in the national program. At the same time, the Institute for Precision Medicine at the University of Pittsburgh and UPMC will provide strategy, vision and research funding to facilitate the rapid movement of precision medicine to the clinic.

It's clear that the city that brought the world the polio vaccine is once again leading the way to discoveries that will dramatically improve our health and save millions of lives. But it will take participation by all of us to make precision medicine a reality.

Dr. Adrian Lee is the director of Institute for Precision Medicine at the University of Pittsburgh and UPMC.

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