Prenatal and Pediatric Genomics: Harbinger for Key Challenges and Opportunities in Precision Medicine

Providers from across the clinical spectrum are embracing the integration of genomics into their daily practice. After all, insights generated from DNA testing can help care teams identify those patients at greatest risk to develop heritable diseases—and help physicians arrive at precise diagnoses sooner and select targeted therapies most likely to produce favorable outcomes.

Not surprisingly, use of genetic and genomic test results as a critical component of clinical decision-making is growing fastest across the maternal-fetal and pediatric spectrum of care. In fact, analysis of claims data indicates more than 40% of current lab spending is attributable to prenatal testing, including carrier screening for single gene and X-linked disorders, as well as diagnostic tests such as single gene, multi-gene panel tests, and chromosomal microarrays (CMA).1

There is genuine clinical need for insights from these tests. It’s estimated that 1 in 150 babies is born with a chromosome disorder, and 20% to 25% of perinatal deaths are caused by inherited chromosomal or genetic alterations.2

Beyond the immediate benefit of prenatal and pediatric testing, however, lies lifelong value: Because an individual’s genetic profile does not change over time, the data generated can be queried again and again as the infant matures and grows into adulthood.

Many argue it’s simply common sense to order genomic testing on all patients prenatally or at birth. In fact, some leading pediatric hospitals already perform whole genome or whole exome sequencing (WGS/WES) on newborns as standard of care. Yet barriers exist that need to be considered and addressed for this practice to become standard of care.

Individual Genes vs. Large Panels

Among the most prominent is resistance to ordering broad gene panels (or WGS/WES) as opposed to testing single genes—even though the information garnered from large panels can deliver lasting value. In many cases, reimbursement policies (which, in turn, drive hospital protocols) impede clinical progress in this area.

Consider this analogy: When I was in training decades ago and needed blood work on a patient, I was required to order individual tests to determine sodium, potassium, and creatinine levels, among other functional values. Today’s routine “Chem 25” test was not an option. Over time, of course, payers, policy makers, and healthcare leaders recognized that bundling these tests was more cost effective than a piecemeal approach—with the additional benefit of delivering a more complete view to improve care. I anticipate common sense will prevail and we will see a similar movement relative to genomic testing—and it will happen quickly, as the cost of panels and WGS/WES continues to drop precipitously.

This will lead to a second barrier that threatens to impede how well healthcare leverages the treasure trove of information generated through genomic testing.

A Vast New Data Set

Health systems are just beginning to realize the impact widespread genomic testing will have on their data management systems. They will need to rethink their IT infrastructure so they can effectively consume test results in a way that makes insights available and actionable not only at the current point of time, for the ordering physician, but over the patient’s lifetime for use by multiple providers across the enterprise (and most likely beyond its walls).

This is a tall and complex order, by any definition. Currently test result are returned via PDF or made accessible to the ordering physician via proprietary lab portals. Because they are not available as discrete data—and may be forgotten in a document tree or pathology folder somewhere—usability is dramatically curtailed.

Burying results in silos is particularly problematic with prenatal and pediatric testing, especially as WGS/WES becomes more prevalent. As the child ages, test results most likely will need to be queried multiple times. A prime example involves pharmacogenomics (PGx), which reveal how effectively patients process specific medications. While a child’s genetic variants will not change over time, his or her kidney and liver functions will. Because enzymes produced by these organs play a significant role in drug metabolization, the interplay between PGx factors and maturing kidney/liver functions evolve beyond infancy and childhood. This requires treating physicians to re-query and re-analyze PGx test results within the context of the patient’s current phenotype in order to achieve the desired therapeutic result and prevent adverse drug events.

A second example is equally striking. It is not unusual for genomic testing performed at birth to reveal mutations indicating the patient may be at elevated risk for a disease that typically presents later in adulthood (some cancers and neurological disorders, for instance). Health systems must fashion their precision medicine infrastructures in such a manner to facilitate the surfacing of relevant—and potentially life-changing—information at the correct point in the patient’s healthcare journey.

Strategic Informatics Approach

To be certain, these are significant challenges, and innovators are just beginning to recognize the multiplicity of considerations they face. Those that have taken their first steps along the precision medicine pathway are establishing strategies that incorporate new workflow processes and dedicated resources: in-depth training for clinicians not intimately familiar with the science and clinical practice of genomics, and leading-edge technologies that balance the needs for greater access to this data against the dangers of information overload and alert fatigue.

The next year or two will be critical. With more and more testing being performed—particularly at the earliest stages of our patients’ lives—the pressure to develop the necessary informatics infrastructure will mount rapidly. Health systems positioned to reap the greatest benefit will be those that confront the challenges directly, ask the important questions early, and embrace innovative solutions built to accommodate the new era of precision medicine readily.


1. Phillips KA, Deverka PA, Hooker GW, Douglas MP. “Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?”Health Aff (Millwood). 2018;37(5):710-716. doi:10.1377/hlthaff.2017.1427)

2. Cariati, F., D’Argenio, V. & Tomaiuolo, R. “The evolving role of genetic tests in reproductive medicine.” J Transl Med17,267 (2019).

  • Joel Diamond, MD, FAAFP

    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 is Chief Medical Officer for 2bPrecise.


You May Also Like

The Impact of Artificial Intelligence on Data Analytics

Artificial intelligence (AI) and its ability to impact data analytics is on everyone’s mind. ...

Implementing a Holistic Marketing Measurement Plan

Marketers understand the importance of preparing healthcare professionals (HCPs) and patients for productive exam ...

The Secret Weapon of Multi-channel Marketing

Brands are everywhere these days. With so many consumer product brands already knee-deep in ...