Joel Diamond, M.D., FAAP

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Physicians are sick and tired — of being told how sick and tired they are.

Yes, “burnout” is a thing. Frustration levels are at an all-time high. Bureaucracy, short-sightedness and administrative burdens often obstruct doctors’ efforts to deliver the care their patients deserve.

But opportunities to put physicians back in the driver’s seat abound, especially now with precision medicine affecting what happens in real time between patient and provider.

It’s been decades since scientific and technological advances genuinely put power into the frontline physician’s hands, but that’s just what precision medicine and genomics can do. Here are three specific points of physician frustration that precision medicine counters:

Being shackled by the necessity to practice “trial-and-error medicine.”

The current environment incentivizes physicians to order the most common or recently approved therapy and incrementally progress through other options if that first-line treatment doesn’t produce desired results. But now that genomic data can be integrated with the patient’s clinical information at the point of care, physicians regain their position as the definitive resource for making optimal diagnostic and therapeutic decisions. They can arrive at a highly specific diagnosis and match treatments that not only align with the precise condition or disease, but also with the individual’s genetic profile.

Correcting problems created by limited, generalized studies and research

For decades, frontline physicians have faithfully followed standards promulgated by medical journals, professional societies and regulatory agencies. Thousands of primary care physicians, for example, followed guidelines to prescribe post-menopausal hormone therapy, only to have to pick up the pieces after the Women’s Health Initiative failed to show benefit for prevention of osteoporosis and heart disease, while perhaps increasing risks of cancer.

Too often, medical research is conducted on homogenous populations (such as Caucasians) without consideration for other variables or genomic impact. Findings, therefore, may be significantly skewed. With access to genomic information, physicians can now consider additional determinants to arrive at safer and more effective care plans (and waste less time undoing the damage caused by well-meaning but misguided guidelines).

Losing time and ground waiting on prior approval for critical patient treatment.

Currently, optimal clinical decision making can be restricted by payer contracts and the too-frequent requirement to seek prior authorization. Physicians might need to demonstrate they have tried three or four failed medications. This is not uncommon, for instance, in the treatment of anxiety or depression. How often do physicians select an antidepressant, try it for a few weeks with little effect, increase the dose for another few weeks and, if that fails to produce the desired outcome, start the process all over again? Results from a pharmacogenomics test provide concrete evidence about which medications the patient metabolizes well — and which might be ineffective or even unsafe.

With conclusive pharmacogenomic test results, physicians can demonstrate the appropriateness of therapies they prescribe (even more expensive options), short-circuiting tedious prior authorization to achieve positive outcomes faster. For example, PSK-9 inhibitors may have a profound effect in lowering cholesterol for patients with familial hyperlipidemia (FH) — but they are a more expensive class of medication. Genomic testing can identify patients with FH, which should allow for automatic approval of the medication.

While precision medicine holds potential to counteract physician burnout, one facet conversely threatens to exacerbate the situation. Consumer awareness of how genomics can affect their health care has accelerated faster than physician adoption of supportive tools. In my own practice, I am seeing more and more patients arrive with results of direct-to-consumer tests in their hands — and questions about what to do with this information on their minds.

How do we understand the information from tests we did not order — often delivered in vocabulary familiar to molecular lab technicians but not clinicians?

How do we assess the quality of the test and the clinical conditions under which it was performed and processed?

How do we integrate the findings into a broader clinical context, based on the family history and medical record we have already documented?

How do we justify next steps that might be based on information from an unaffiliated third-party?

How do incorporate and leverage this new data set within health IT systems not designed to manage it — and ensure it continues to deliver value as the patient’s phenotype changes and new scientific discoveries are made?

It’s clear that healthcare organizations must provide technology, support and education so that physicians can respond appropriately.

Ultimately, precision medicine holds a key to the greatest physician motivator of all: Getting quicker results for the patients they care for. In some cases, precision medicine even means physicians can achieve results where no treatment was available in the past. Biologic agents, immunotherapies and targeted molecular therapies now empower physicians to have unprecedented impact on their patient’s longevity and quality of life. And this, as one physician told me, is what will make medicine fun again.

Recognized as a thought leader in the field of precision medicine, Dr. Joel Diamond is 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. He serves as chief medical officer for 2bPrecise and cares for patients at Handelsman Family Practice in Pittsburgh, Pennsylvania.

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