Whole Genome Screening for Sick Newborns: Equity Now

Sharon F. Terry
Sharon F. Terry, President and CEO of Genetic Alliance

The NICUSeq study group has recently reported on their randomized multisite time-delayed trial to test the clinical utility of whole-genome sequencing (WGS) in acutely sick newborns (NICUSeq study group, 2021). Their findings showed that WGS led to twice as many diagnoses and changes of management (COM) compared with usual care.

In total, 354 infants, ranging in age from 0 to 120 days, were recruited from five children’s hospitals across the United States. The patient demographics mimicked the U.S. population, including ~13% African American and ~5% Asian infants. Inclusion criteria were designed to mimic real-world application of WGS testing: the principle inclusion criterion was clinical assessment that the neonate showed signs or symptoms of a genetic condition.

Patients received WGS findings either 15 (early arm) or 60 (delayed arm) days after enrollment. The 45-day window was used to compare between the groups. The study observation extended to 90 days to enable a within-arm investigation of the delayed arm.

Twice as many patients in the early arm received a COM compared with the delayed arm at 60 days (primary outcome) and twice as many received a diagnosis. In the delayed arm, even though results were held for 60 days, there was a doubling of both COM and the number of patients diagnosed.

These results indicate that WGS should become standard of care for patients with a suspected genetic disease in the Neonatal Intensive Care Units (NICUs), Pediatric Intensive Care Units (PICUs) and Cardiac Intensive Care Units (CICUs). The technology exists due to the massive public benefit project—sequencing the human genome. It has become far less expensive and more available in the ~20 years since it was completed in 2003. This technology’s promise will not be realized until it is also accessible—available to all the infants who need it.

One of the major problems is the fact that privileged individuals and communities tend to have access to more diagnostic approaches and received a more detailed clinical assessment. Marginalized and underserved communities do not have access to these services and this creates greater disparities. Systematic deployment of WGS could lead to diagnostic equity, since it is agnostic to disease and offers the highest chance of a diagnosis to all suspected genetic disease patients, and subsequently reduce health care disparities. In one of the Supplementary Figures, the consortium authors show that “usual care testing” across the five clinical sites was quite variable—with some patients getting only single gene and/or chromosomal microarray analysis. With this clear evidence, and the increasing affordability of WGS, every baby should have access to this. WGS is the most robust genetic test available and the only test that can detect nearly all types of genetic variants.

There is a tangible action available to those of us with privilege, those of us who can contact our congressional representatives. The federal Ending the Diagnostic Odyssey Act (S. 2022) would encourage state Medicaid programs to cover WGS clinical services for children suspected of having a rare genetic disease. Please call or write your U.S. senators and ask them to cosponsor S. 2022. This legislation will advance precision medicine, lower health care costs by facilitating better diagnoses, and improve the lives of every family affected by rare genetic conditions. It will enable equity and access for families that cannot afford this care, narrowing the disparities they experience. There is no time to waste.


Sharon F. Terry is President and CEO of Genetic Alliance, an enterprise engaging individuals, families and communities to transform health.

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