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Inova Offering Newborn PGx Testing as First Step Toward Clinical Adoption of Genomic Medicine


NEW YORK (GenomeWeb) – After several years of conducting cutting-edge genomics research, the Inova Translational Medicine Institute (ITMI) in Virginia is moving toward applying this knowhow to the day-to-day care of its patients, and as a start, is offering free pharmacogenomic testing to babies born at its new women's hospital.

"We're thinking of a lot of ways to use genomics or a precision approach to take better care of our patients and be a better healthcare system," Benjamin Solomon, chief of ITMI's medical genomics division, told GenomeWeb. "Over the years, we've had lots of discussions about what's feasible and what we can launch right now to introduce the idea of genomics more broadly."

With the opening of the Inova Women's Hospital in Fall Church, Va., last week, Inova began offering all new parents the chance to have their babies tested for pharmacogenomic markers. Inova introduced newborn PGx testing first through a small pilot in November, offering it to parents who had participated in its genomics research. ITMI has been conducting whole-genome sequencing-based research for five years, and has been trying to figure out how to augment newborn screening with WGS.

Solomon and a research team assessed the feasibility of such an effort and concluded in a Genetics in Medicine paper last year that WGS could help rule out false positives and home in on conditions not gauged by standard newborn screening assays. Inova hasn't yet introduced WGS outside of the research context, but is hoping to soon launch it in several clinical indications.

In the meantime, PGx testing "resonated with a lot of folks as a very good non-research, clinical first step," Solomon said.

"This is the kind of thing I came here to do," he reflected. "I love research, and I'm excited to take the knowledge from our and others' research to implement personalized medicine. It's an exciting thing to be able to clinically touch a lot of lives that way."

The PGx test, called MediMap, was developed by Thermo Fisher Scientific for Inova, and analyzes cells from the baby's cheek for variants in seven genes — several CYP450 genes, SLCO1B1, TPMT. These genes are known in the literature and in guidelines to influence a person's ability to respond to 21 drugs. The results, available in four-to-six months, are incorporated into the infant's electronic medical records with an eye toward future use.

An Inova spokesperson estimated that within the health system's Fairfax campus, there were approximately 10,000 babies born last year. According to Solomon, since rolling out the newborn PGx testing effort in November, Inova's staff has extended the option for free testing to several hundred parents, and three-quarters have agreed. Those who declined testing commonly indicated they were too overwhelmed as new parents to make the decision. Others said they wanted to think about it a bit more, while some just felt this type of testing isn't for them. 

According to Solomon, Inova views PGx testing as a public health good that can help doctors take better care of patients, prescribe the right medicine, and avoid bad outcomes. Across Inova's six hospitals as many as 20,000 babies are born each year, and the program organizers have ambitions to offer newborn PGx testing system wide. "In reviewing things clinically that would help out doctors, it's very clear that the PGx tests out there are a mix of things that make a lot of sense clinically and there's a lot of evidence for, and things where honestly there isn't a lot of evidence," he said. "With the way we're doing this, we're working hard to make sure we're using the very top tier of tests."

The idea of genetically testing newborns — where the results are available from the start and can inform care throughout their life — is the holy grail of genomic medicine. When supporters of precision medicine talk about its virtues, this is the future they imagine. But implementing such a scenario in today's healthcare marketplace, with its reimbursement headaches, the physician education gaps, and the interoperability issues of electronic medical records, is a daunting task.

For example, a study conducted by Vanderbilt University, which has implemented a PGx testing program and over the course of five years tested around 15,000 patient samples, found that doctors generally recognize the value of this information in patient care. However, there are fundamental operational difficulties with implementing PGx information in patient care, such as figuring out which doctor should be responsible for acting on test results and who should inform physicians outside of Vanderbilt's system when a patient leaves the university's care. 

For the time being, Inova is hoping to address the newfangled challenges in genomic medicine with old-fashioned paper. In addition to having PGx test results in the EMR, parents will get paper records to keep as part of their child's medical information and a wallet-sized card detailing any variants that influence drug response.

PGx testing firms, such as Genelex, also provide patients with these wallet-sized cards and there have been cases where the PGx information on these cards has helped doctors determine the right treatments for critically ill patients much faster than they otherwise would have.

We're not handing them a report and saying, "Good luck with that."

At Inova, because PGx testing is being done with the hope that the results will be useful in the medical care of the growing child, those in charge of the effort will be able to update and reinterpret results as new medications come to market. Or, as the evidence around PGx markers evolves, Inova could also decide to add new markers to the panel in the future.

Education is another consideration when launching a program like this. Inova has enlisted experts with experience in its genomics studies to reach out to parents in postpartum suites, educate them about PGx testing, and take them through the authorization process. Inova has posted videos online for parents to watch on PGx testing and other genomic medicine topics. Solomon and his team of experts, as well as a number of genetic counselors, are available to field questions from parents. "This is very new and so we've tried to be careful and provide lots of resources," Solomon said. "We're not handing them a report and saying, 'Good luck with that.'"

In the future, if the PGx results do become important for guiding treatment decisions for a child, his or her doctor will have to interpret the report and make prescription decisions. "In the last several months, we've done a lot of outreach to the pediatricians and other doctors to educate and prepare them for this," Solomon said.

To help them interpret the information, physicians will eventually receive decision support pop-up alerts through Inova's EMR when patients have PGx information that could inform their care. But as other healthcare systems offering PGx testing around the country have realized, crafting decision support alerts within the EMR is a complicated art.

"EMR systems are big tools. They do a lot of things, and it takes a lot of work to make alterations," Solomon said.

Currently, through Inova's Epic system, doctors can encounter PGx test results through a number of different paths. However, Solomon noted that an IT team has been "putting a lot of time and resources" to modify the EMR so physicians can receive pop-up alerts with patients' PGx information.

Another area where Inova doctors will deal with genomic information is within the cancer institute. As part of its efforts to apply genomics research to real-world care, Inova has begun using Thermo Fisher's 143-gene Oncomine Comprehensive Panel to profile the tumors of cancer patients in the hopes of guiding them to precision treatment options. But this test, which is also being used within the National Cancer Institute's MATCH trial, is not for newborns.  

Inova also plans to offer a PGx panel test with more genes to patients who are older than infants and have difficulties responding to drugs. Based on physician interest and needs, Inova will eventually introduce condition-specific PGx testing panels in cardiology, neuropsychology, and pain management.

"We recognize this is not easy to do, and this has been a long time in planning," Solomon said with regard to Inova's first clinical venture into newborn PGx testing. "We have a lot of moving parts to make sure this works well."