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By Assaf Halevy
Precision medicine, to date, has served as a prime example of latent energy. Its power has been acknowledged, yet its potential remains unexpressed. 2021 may well be the year healthcare begins to unleash the promise precision medicine offers.
In reality, there is nothing new about leveraging precision medicine for patient care. The medical community discovered blood typing more than 100 years ago, after all. And molecular testing of cancerous tissue has been the standard of care for decades.
Yet, the latent energy of precision medicine has not been fully realized. While embraced within research and academic environments, precision medicine has not crossed the chasm into routine clinical use. Incremental adoption has occurred, particularly in oncology, rare disease and maternal-fetal medicine. Increasingly, however, specialties ranging from family practice, to cardiology, to neurology, to psychiatry and beyond are beginning to apply genetic and genomic insights to their daily practice.
2021 will be a tipping point because early precision medicine adopters – organizations that began using genetic and genomic testing two or three years ago – are beginning to demonstrate results and progress. This is most evident in groups that used pharmacogenomics (PGx) as their starting point.
Murfreesboro Medical Clinic and SurgiCenter in Tennessee, for example, decided to test the value of PGx with a cohort of patients early in 2020. Leadership identified patients who were not responding well to behavioral health medications such as anti-anxiety agents and antidepressants, even when different drugs and various doses were tried. PGx testing revealed drug-gene interactions affected 87 percent of these patients, which meant that their bodies either metabolized specific medications too rapidly (which suppressed efficacy) or too slowly (which meant they did not provide adequate relief and may even have been stored by the body, threatening toxicity). Providers made medication changes with these patients and virtually all experienced better outcomes quickly. In more than one instance, the patient reached out to the provider personally because the PGx test and medication adjustment “changed [their] life.”
Another practice, San Francisco Otolaryngology, has likewise been piloting PGx within a wellness initiative directed toward the elderly. Providers recognize that drug-gene interactions contribute to problems commonly experienced by senior patients, including dizziness (which leads to falls) and confusion (which impairs cognition). The initiative focuses on select polypharmacy patients taking five or more medications and will be rolled out to the practice’s broader patient population early in 2021.
Proof points are being documented in areas beyond PGx, as well. Healthcare providers are beginning to use pedigree software within emerging precision medicine platforms to more comprehensively track patients that may carry hereditary traits for common conditions. Not long ago, the Journal of AMIA (American Medical Informatics Association) found that only half the women who met national guidelines for genetic testing due to familial history of a strong likelihood of breast and ovarian cancer were actually tested. The reason? Family history is typically distributed across multiple provider practices and stored within disparate electronic medical record systems. The lack of a central precision medicine hub means many patients are overlooked leading to potentially dire consequences.
Likewise, providers increasingly turn to germline testing to help them arrive at highly accurate diagnoses (which then enables better treatment). Congestive heart failure (CHF) is commonly treated by both primary care physicians and cardiologists. Greater precision medicine insights have prompted these clinicians to order germline tests for CHF patients to identify those whose condition might be rooted in dilated cardiomyopathy, a genetic condition that alters the treatment protocol. Likewise, germline testing can reveal that a patient not responding to standard statin therapy for high cholesterol might have a heritable form of the condition (familial hypercholesterolemia), requiring a care plan that differs from the treatment of non-genetic forms of the condition.
As these gains are documented, healthcare will also see a course correction from payers. Positive clinical outcomes advance payers’ quality ambitions, and the ability for providers to determine the best approach as the first or second line of treatment will help reduce the overall cost of care. Public plans already cover PGx testing for many patients, with commercial payers beginning to follow suit. And, in many cases, germline diagnostic testing is reimbursed when adequate heritable disease susceptibility is demonstrated. Some experts anticipate that precision medicine will be more fully embraced by the payment community in the near future, with policies and regulations following patterns established previously with oncology care.
Without a doubt, precision medicine promises to be a compelling force, driving new standards of care in the practice of medicine. As front-line clinicians experience its power to improve outcomes, and as those charged with managing the business of healthcare witness its potential to reduce cost and enhance quality-based revenue, precision medicine will soon be embraced as a critical and necessary next step to fuel dimensional change in healthcare.
Assaf Halevy is CEO and co-founder of 2bPrecise.