Putting precision medicine into practice

April 26, 2017
Joel Diamond, M.D., Chief Medical Officer, Allscripts 2bPrecise

Imagine going to the eye doctor to get new glasses and getting this advice: “This prescription works for most people your age. Try it for two weeks, and come back if it doesn’t work for you.” We’ve come to expect a personalized approach in optometry, so why do we settle for this type of trial-and-error approach in other areas of medicine?

The paradigm is shifting. As physicians, we want tools that help us incorporate the many factors that affect each patient, to provide the best possible care plan. This is where precision medicine comes in.

As defined by the National Institutes of Health, precision medicine is an emerging approach for disease treatment and prevention that considers individual variability in genes, environment, and lifestyle.

Overcoming barriers to precision medicine

The good news for patients today is that healthcare is overcoming some of the challenges that have kept precision medicine from going mainstream. For example, there is an increasing number of genetic diagnoses, while at the same time, the costs to sequence a human genome are dropping.

While many physicians are enthusiastic about the potential of personalized care plans to improve patient outcomes, it can be challenging to put precision medicine into practice. Several questions remain for physicians, including:

  • Who should we test?

Physicians must be able to identify which patients might benefit from genetic testing. It is important to find them early enough for testing to have its full predictive value.

  • Which test should we order?

For any condition, there are multiple versions of genetic tests that could range from $100 to several thousand dollars. The industry must apply more rigor to this unregulated area, but in the meantime, physicians need a way to determine which tests are most appropriate.

  • Who will pay for the test?

While costs of genetic tests are decreasing, payers don’t usually cover this expense. Patients, payers, and providers must weigh the long-term value of testing against the cost.

  • How do we incorporate results into the patient record?

Test results are often returned on paper or as a .pdf document. It’s not discrete data that we can easily combine and view with other clinical information.

  • How do we interpret results?

Test results are returned in wording that has been developed for genetic counselors, which doesn’t help physicians. Also, these aren’t binary answers, but rather results that include many variants with unknown significance.

Applying precision medicine to hyperlipidemia

As an example of how technology can help put precision medicine into practice, let’s look at the potentially genetic disorder of hyperlipidemia. This condition is a high concentration of fats or lipids, such as cholesterol and triglycerides, in the blood. Hyperlipidemia doubles the risk for heart disease.

There are 73.5 million adults in the United States with high levels of low-density lipoprotein (LDL), or “bad” cholesterol. About 25% of adults over 40 are taking high-dose statins to lower their LDL. Unfortunately, patients who have the inherited version of the condition often do not respond to this class of drugs.

A new class of drugs, called PCSK9 inhibitors, have been found to be effective to treat hyperlipidemia in the familial form. These medications can be expensive, so it’s important to prescribe for patients that will respond best to them.

If physicians have a clinical-genomic solution, they can better customize treatment plans. Doctors can identify patients with high cholesterol levels who have not responded to statins. The solution can then facilitate ordering a genetic test, using a knowledge base to identify which test is best for that condition.

Results come back in a discrete form within the workflow and can show abnormal results, an LDLR gene, or other unexpected genes. The solution can then provide recommendations, putting the power of combined information at the clinician’s fingertips.

Bringing precision medicine to the point of care

Oncology is one discipline that is already using genomics extensively, and there is now a burgeoning use in other areas. For example, in a recent news release Tennessee-based Holston Medical Group (HMG) indicated that it will use a clinical-genomic solution to better treat a patient population that struggles with opioid addiction.

Outside of forward-thinking medical groups like HMG, bringing genomics and precision medicine to the point of care is still an unmet challenge. But by making precision medicine available—at the point of care—we give clinicians powerful tools to support decisions. We give patients better, more personalized treatment options.

Dr. Joel Diamond, Allscripts 2bPrecise’s Chief Medical Officer, has extensive clinical and technology experience. He formerly served as CMIO and chairman of the Physician Advisory Board at the University of Pittsburgh Medical Center, St. Margaret Memorial Hospital, where he helped achieve 100% adoption of CPOE in a community hospital. He helped develop dbMotion, a solution for health information exchange and population health, and later became the Chief Medical Officer for Population Health at Allscripts Healthcare. Dr. Diamond currently serves as an adjunct associate professor of biomedical informatics at the University of Pittsburgh. He is a diplomat of the American Board of Family Practice and a fellow in the American Academy of Family Physicians while continuing to care for patients at Handelsman Family Practice in Pittsburgh.

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