With the age of precision medicine upon us, many healthcare leaders seek clarity about return on investment. To fully leverage precision medicine, they realized their organizations will need to implement new software, reconfigure workflows, and educate both providers and patients.
Not a small, or inexpensive, undertaking. They want to be sure they will realize benefit, both when treating individuals and populations of patients.
Here are five examples of where significant value can be realized by precision medicine leaders and innovators using genomics at the point of care as a key component of clinical decision support.
Clinical value
1. The CDC reports that 102 million Americans have cholesterol levels above 200 mg/dL, while 35 million of these have levels of 240 mg/dL or higher, putting them at high risk for heart disease. It goes without saying that treating a population this large is a tremendous burden on the health system. The cost is compounded by the fact that some patients are afraid to take commonly prescribed statins, others experience uncomfortable side effects like muscles aches and still others simply don't respond to this class of medication. Any of these factors might lead to medication noncompliance. A simple pharmacogenomics test (PGx) – which often costs only $200-300 – arms the provider with information about which medications (statins or other drugs) control the individual patient's cholesterol best – saving time and money. Caregivers likewise can share the PGx test results with patients to convince and reassure them that the prescribed treatment is safe and effective.
Genomic testing likewise helps providers identify patients with the genetic variant for familial hypercholesteremia (FH), which might require a different treatment. Failure to treat FH patients adds a tremendous cost burden associated with cardiovascular morbidity, mortality and utilization.
2. Our current healthcare system invests heavily in cancer screening, despite evidence questioning its effectiveness in many cases. Genomic testing can help identify the subset of patients who carry genetic variants that put them at higher risk – those, for instance, who have a greater probability of developing common cancers like breast, ovarian, lynch syndrome and prostate. Once identified, only these patients need screening for early detection. Other patients may not need screening until later in life or may be able to avoid it altogether.
3. Consider newborns with seizure disorders admitted to the neonatal intensive care unit (NICU). The current state of medicine dictates a time-consuming, trial-and-error approach to determine the cause and, consequently, the most effective therapy. Early genomic sequencing is often the key to diagnosing conditions quicker and improving health outcomes. This translates into significant decrease in length of stay (average NICU cost is ~$3,000/day, for example). Prompt genetic testing has markedly decreased the time to diagnose complex newborn illnesses that result in uncontrolled seizures and fail-to-thrive. The quantitative and qualitative ROI is considerable, and a genomics approach is quickly becoming the gold standard at hospitals committed to pediatric health.
Operational value
1. Greater efficiency. When they bring genomic results to the point of care so individual providers can factor them into daily clinical decision making, healthcare organizations enhance the value of tests for both patient and clinician. Unfortunately, genomic tests today often are returned as paper or PDF reports that can't be integrated with the patient record. Nor do the reports communicate results in a vocabulary that renders it clinically meaningful. Clinicians may consequently refer patients seeking genomic tests to a genetic counselor. With the rapid growth of testing and the shortage of genetic counselors, this may create a bottleneck and delay treatment significantly. With actionable genomic information within the providers' EHR, precision medicine truly can become standard of care.
2. Competitive advantage. Scientific research, market forces and consumer demand are converging to ensure precision medicine becomes the standard of care. The healthcare system that offers clinical genomics first in any give healthcare market will gain an undeniable competitive advantage. Patients will seek out providers that offer the most effective and precise healthcare available. With better engagement and improved outcomes, satisfaction and loyalty will skyrocket.
Few experts argue the value of genomics. Being able to identify patients at risk for specific disease early (for prevention and timely intervention) and identify effective treatment the first time (not the seventh or eighth time) means providers achieve therapeutic value faster.
Organizations that begin planning their precision medicine strategy with the end in mind and adopt technologies and workflow that will scale across their enterprise will find success – and become recognized as the innovators that change the face of healthcare.
JOEL DIAMOND, MD, FAAP, is 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 cares for patients at Handelsman Family Practice in Pittsburgh and serves as Chief Medical Officer for 2bPrecise, LLC.