Pharmacogenetics for Newborns


One-time test for infants can provide actionable results throughout their lifetimes

Inova Health System is tapping into the power of translational medicine to personalize care for the tiny human beings entering this world through the Inova Fairfax Women’s Hospital in Falls Church, Va. The mission at hand is to integrate genomic information at the point of birth to personalize patient treatment and improve health outcomes as life stretches forward. In order to accomplish that goal, MediMap, a pharmacogenomics test, was launched in February.

Inova Translational Medicine Institute (ITMI), part of Inova’s Center for Personalized Health, was founded in 2011 to connect researchers, clinicians and consumers to integrate genomic research and knowledge into patient care, prevention and wellness. The team consists of 100 scientists, physicians, nurses, genetic counselors and laboratory technicians divided into three main groups:

  • Clinical: physicians, nurses, research coordinators and support staff to guide participants in genomic research studies and other genomic programs.
  • Bioinformatics/IT: a variety of bioinformaticsscientists and statisticians to analyze genomic data while the IT staff supports the infrastructure necessary to evaluate data.
  • Laboratory: laboratory professionals process individual samples into DNA and RNA for data generation and help with downstream functional studies.

Test Provides Answers

The test evaluates seven actionable genes associated with 21 drugs to determine how an infant will respond to certain prescription medications, including efficacy and adverse reactions. Translational Software Inc.’s (TSI) proprietary knowledge platform is being used to classify and interpret raw genetic data drawn from MediMap in order to pull information into a clinically meaningful report for each child tested. The reports are comprised of “concise molecular intelligence and critical alerts regarding drug efficacy, known interactions to guide clinical decision making and enable physicians to prescribe the most effective medications,” according to information provided by TSI. The report can then be stored in a baby’s medical record to support personalized medicine for the rest of its life.

Parents Approve

Parents of newborns have been extremely enthusiastic about the program, said Ben Solomon, MD, chief, division of medical genomics at ITMI. “The test is completely optional, and while we make this available, we recognize that some families may want this, while others might not be interested-which is fine,” he explained. “We have someone from ITMI available at the bedside during the postpartum stay to educate families who are interested in MediMap testing. Families sign a specific release for this testing, which is completely separate from newborn screening and other parts of neonatal care.”

Solomon said the overall goal of the initiative is to use new genetic and genomic technologies and knowledge to better take care of patients. “For example, tens of thousands of children each year are at risk for adverse reactions (some potentially lethal) from codeine because of differences in drug metabolism. By testing for this, we hope to avoid these problems.  The program is new, so it’s early to measure outcomes.”

Don Rule, CEO of TSI, commented that, to their credit, Inova is an early adopter of PGx. While medication issues are relatively rare early in life, Rule commented, “When they occur, they can be critically important.”

Lifelong Benefits

As these test results follow individuals into the fullness of life, the importance to their health status may become increasingly clear. Rule noted, “There are a growing number of studies that have shown that guiding prescription choice with an understanding of a patient’s genetic factors can not only improve patients’ well-being by avoiding trial-and-error prescribing, but also prevent repetitive and unnecessary treatment by anticipating which medications will not be effective.  When physicians can closely tailor personalized treatment based on a patient’s genetic profile, they can choose safer and more effective therapies that result in better patient outcomes at improved cost.”

He also underscored the importance PGx will have on personalized healthcare in general. “Pharmacogenomics is one of the earliest-and will be the most pervasive-examples of precision medicine. PGx provides physicians with the knowledge and tools to determine more precise medical treatment. There are relatively few gene variations that affect a large number of medications, and they have been well studied during clinical trials for drug approval. Too often people think of precision medicine as something that is interesting for the future, but MediMap is a real life example that is having an impact on patient lives today.”


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Valerie Neff Newitt
Valerie Neff Newitt

Staff Writer

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