Where is precision medicine headed?

Physicians have practiced precision medicine, defined as the tailoring of medical treatment by taking into account individual differences in people’s genes, environments and lifestyles, for decades. The main difference today is that technological advances have given us greater power to combine comprehensive data collected over time about an individual to help provide appropriate care.

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The precision medicine initiative, now known as the All of Us Research Program, launched by the National Institutes of Health, is an ambitious effort to gather data for over a million people living in the U.S. It will likely accelerate precision medicine research with the goal of eventually benefiting everyone by providing information that healthcare providers can use in the clinic. However, there are aspects of precision medicine that have emerged, or are beginning to emerge, in different clinics across the country and are being used to benefit patients today.

Pharmacogenomics (PGx), the study of genetic variations that cause individuals to respond differently to medications, is the most widely used form of precision medicine today. Virtually all of us harbor at least one genetic change that predisposes us to metabolize a common medication differently than the average person. A PGx panel with multiple genes can provide gene-drug guidelines for dozens of medications, including common ones like Warfarin, Clopidogrel or various antidepressants.

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In addition to government initiatives, PGx and precision medicine is being fueled by the decreasing cost of genomic testing and growing consumer interest in it. More than 50% of adults are interested in genetic testing, and 6% indicate that they have already undergone it, according to patient surveys^[1].

Next: What do patients think of it?

The direct-to-consumer (DTC) market, with providers like 23andMe and 200+ other DTC genomic companies, enables consumers to learn more about their genealogy, microbiomes and likelihood of inheriting specific diseases, allowing them to take a more proactive, targeted approach to their healthcare. As these tests become even easier to use and costs continue to decrease, more consumers are considering them.

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But what then does a patient do with the information gleaned? While certain markers can appear in genetic tests, including variants that increase the likelihood to develop a certain condition over time, they only reveal what the patient may be at risk for and don’t guarantee he/she will get the disease. With the potential for a poorly informed consumer to unnecessarily pursue risky procedures or discontinue a critical medication as a result, the medical community should be aware of the tests, risks associated with consumer interpretation of them and how to best address patient needs to understand the information.

Some EHR systems are starting to incorporate genomic data, as well as insurance claims and other data that goes mostly untapped, with clinical practice guidelines to enable the translation of PGx test results into actionable prescribing decisions, and even more needs to be done in this space. This can help to better inform physicians on how to best educate patients on genetic testing results at the point of care. Additionally, genomic data could be used to facilitate a clinician’s workflow and improve patient care to predict when a given patient is due for a preventative service (e.g., colonoscopy) or a monitoring intervention (e.g., HgBA1c) in an automated fashion. This prospective analysis can optimize patients’ health and streamline the provider workflow while improving quality measures like HEDIS and refining risk adjustment models. This knowledge can become even more impactful when integrated with a care manager platform or an EHR to become part of routine care using clinical decision-support applications.

Next: What happens when genetic testing becomes more readily available? 

As genetic testing becomes more affordable and widespread, we can imagine a setting where everyone identified with elevated cholesterol levels gets screened for a common genetic disorder of cholesterol metabolism and target these patients with more aggressive therapies. These FH patients have then been targeted for more aggressive cholesterol lowering therapies and increased monitoring. This could all happen in a mostly automated manner, with physicians providing supervision and counseling as needed. There are multiple similar conditions that may be picked up by genomic screening, giving primary care providers (PCPs) a head start on treating affected patients before they suffer complications from the disorder.

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Findings from the All of Us Research Program and other related programs will likely lead to a greater ability to individualize therapies for patients in the future. However, there are some tools, like pharmacogenomics, that can be easily applied to help us provide better care and practice precision medicine today.

Jaime Barea, MD, is Director of Medical Genetics with Interpreta, a provider of a real-time analytics engine that continuously updates, interprets and synchronizes clinical and genomics data, creating a personalized roadmap and enabling the orchestration of timely care.

[1]The Public & Genetic Editing, Testing & Therapy, Harvard, T.H. Chan, January 2016.