Newborn deaths usually involve infants with genetic disorders. Up to 25% of patients in neonatal intensive care units (NICUs) may have an undiagnosed genetic disorder1, and up to 50% of infant deaths are attributable to genetic disorders.2
Whole genome sequencing (WGS) covers the entire DNA sequence from beginning to end. It is identified as the only available genetic test that can detect genetic changes identified by karyotype, microarray, gene panels, and whole exome sequencing (WES), but with one single test.3
In the March 2024 issue of NeoReviews, in the article titled "A Practical Guide to Whole Genome Sequencing in the Neonatal Intensive Care Unit," Dr. Seether et al. reviewed the science behind WGS, diagnostic capabilities, limitations of testing, when to consider testing, test initiation, interpretation of results, developing a plan of care incorporating genomic information, and counseling families (10.1542/neo.25-3-e139). They present interactive tools and a video to interpret and explain genetic tests. They provide a unique learning tool for all clinicians and practical tips for obtaining WGS and resources for all learners.
Not surprisingly, genomic testing has brought ethical and legal challenges for its users. In another article in this issue, "Ethical and Legal Issues Surrounding Genetic Testing in the Neonatal Intensive Care Unit," Dr. Callahan et al. outline the complexities of measuring the benefit or utility of neonatal genetic testing (10.1542/neo.25-3-e127). They discuss potential harms: inequity, unexpected findings, disability biases, and legal risks. They also discussed ethical issues related to consent for genetic testing. The article highlights solutions to challenges toward minimizing harm and maximizing the potential benefits of genetic medicine in the neonatal intensive care unit.
Finally, in "Parental Experiences of Genetic Testing," Drs. Groden and I reviewed the literature on parents’ perspectives on genetic testing in the neonatal period (10.1542/neo.25-3-e151). Although the studies somewhat lack diversity, the available data indicates that most parents are resilient, have limited measurable negative impacts, and vocalize support for the continued use of genetic screening or testing. We concluded that we as health care providers must consider, with humility, that parents perceive the benefits and risks of testing differently than clinicians—in particular, parents often perceive a broader array of benefits outside of medical management changes. Being able to prepare, mentally and emotionally, for the future is valuable to parents. Parents may feel that gathering knowledge on behalf of their child is part of their duty as parents.4 In addition, results may alter medical management for family members, such as deciding whether to have future children or screen relatives.
While the risks remain real, as do the concerns raised in the articles above, a broader conception of the benefits of genetic testing may change the risk-benefit balance for families. High-quality communication aimed at shared decision-making5 and family-centered care will be essential as we navigate the brave new world of neonatal genetic testing.
References
- Wojcik MH, Schwartz TS, Yamin I, et al. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med, 2018. 20(11):1396-1404.
- Wojcik MH, Schwartz TS, Theile KS, et al. Infant mortality: the contribution of genetic disorders. J Perinatol, 2019. 39(12):1611-1619.
- Wojcik MH, Parad RB. Neonatal Genomics: Part 2—Applications. Neoreviews, 2017. 18(5): p. e295-e305. https://doi.org/10.1542/neo.18-5-e295
- Feudtner C, Schall T, Hill D. Parental Personal Sense of Duty as a Foundation of Pediatric Medical Decision-making. Pediatrics, 2018. 142(Suppl 3):S133-S141Pare. https://doi.org/10.1542/peds.2018-0516C
- Sullivan A, Cummings C. Historical Perspectives: Shared Decision Making in the NICU. Neoreviews, 2020. 21(4): e217-e225. https://doi.org/10.1542/neo.21-4-e217
