Genetic/Genomic Testing Sets New Standards in Pediatric Care

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By Joel Diamond, MD, FAAFP

The use of genetic and genomic testing in pediatric care has been on a meteoric rise in the past few years. The steep trajectory reflects provider recognition that these insights drive precise diagnoses and targeted therapies that directly correlate to better outcomes and patient/family satisfaction.

A particularly relevant example of where precision medicine can add value has been in the headlines recently, as the U.S. (and the world) seeks to combat the escalating epidemic of youth and teen mental health disorders, including anxiety and depression that may elevate suicide risk. Integration of pharmacogenomic testing (PGx) – which identifies genetic mutations that may impact how well a patient processes specific medications – into clinical decision making can help pediatricians, primary care physicians and other specialists select the optimal medication to relieve the patient’s symptoms sooner and more effectively.

Precision medicine combats growing mental health crisis

Prescribing the right behavioral health medication historically has been a trial-and-error endeavor. Based on their diagnosis, physicians prescribe the drugs they believe are “most likely” to achieve therapeutic benefit with minimal or no side effects. If the first-line therapy does not deliver the desired results after a few weeks, the physician most likely will increase the dose and schedule another follow-up. This process might be repeated multiple times with several medications over the course of months, delaying or denying the patient relief. In the case of adolescents experiencing anxiety or depression, for example, this lag could compound their symptoms and escalate self-harming or suicidal behaviors.

Testing for potential drug-gene interactions, on the other hand, equips providers with critical insights so they can leapfrog over medications that patients might metabolize too quickly or too slowly, or that might produce unpleasant side effects that diminish care-plan adherence. With PGx data driving prescribing decisions, it stands to reason patients will feel better sooner – and that health crises, emergency visits and hospital admissions can be avoided.

Nor is PGx benefit limited to mental or behavioral health drugs. FDA alerts informing providers about PGx indications can be found on the labels for a plethora of agents used in pediatric care, including gastrointestinal motility and anti-epileptic medications, beta blockers and antibiotics.

Early identification of disease drives early intervention

Testing for potential drug-gene interactions is a small subset of the impact genetics/genomics can have on pediatric care. Broader sequencing of the patient’s DNA (referred to as germline testing) can uncover genetic variants that indicate an elevated risk for developing a heritable disease. While hereditary cancers perhaps come to mind most readily, other common conditions include heart defects (that might be exacerbated by athletic activities) and seizure disorders (often associated with failure-to-thrive diagnoses among neonatal patients). It’s worth noting that, contrary to what some believe, precision medicine is applicable not only to what we often refer to as rare diseases such as Down Syndrome, sickle cell anemia or X-linked disorders (which in reality are not so rare) but equally to conditions found in larger percentages of the population.

In fact, leading pediatric hospitals increasingly order whole genome or whole exome sequencing (WGS or WES) on patients. Their logic is simple: the data generated through WGS or WES can be used and re-queried throughout the patient’s lifetime. To their thinking, it makes sense to order broad-based testing so results – if stored and managed as discrete data – can be accessed and factored into clinical decision-making for decades to come, across specialties and episodes of care. 

Informatics key to return on precision medicine investment

Many say this is the most effective way to measure return on their precision medicine investment. The alternative to WGS or WES is allowing providers to follow their own logic in genetic and genomic testing. One might order a single-gene test for an isolated condition, for instance. Another might order a limited panel for yet another condition. A third might duplicate a test performed years earlier, not realizing it had already been done and the information is still relevant. Over time, the cost of rogue ordering could far exceed the initial expense of WGS or WES done early in life. 

Key to ensuring that broad-based panels or WGS/WES fulfill their potential is an enterprise-spanning informatics strategy. Challenges inherent to effective precision medicine initiatives are significant. Many of today’s innovators are investing in technology that enables their organizations to consume genetic/genomic test results as discrete data that can be stored and shared across the enterprise. With data management tools in place, these leaders can ensure that any provider involved in the care of a patient that has undergone genetic testing is aware that testing has been done and can access relevant insights within familiar clinical workflows. The most advanced of these solutions likewise deliver easy access to online resources reflecting the latest scientific advances in this rapidly evolving field and providing current clinical guidance relevant to specific genetic profiles.

Prenatal and pediatric care are among the clinical specialties driving the fastest growth in genetic testing. With the right tools to capture and share results and insights, healthcare organizations that embrace precision medicine are poised to significantly improve the lives and wellbeing of their patients, far into the future.

Joel Diamond, MD, FAAFP, is a diplomat of the American Board of Family Medicine and a fellow in the American Academy of Family Physicians. He cares for patients at Handelsman Family Practice in Pittsburgh and serves as Chief Medical Officer for 2bPrecise.