The birth of a baby is an uncomplicated event for most families; unfortunately about 14% of babies born in the United States are admitted to the neonatal intensive care unit (NICU).1 Knowing the underlying cause of a newborn’s health issues can significantly impact health care management. There are many reasons why newborns require hospitalization. Genetic disorders are more likely to require longer hospitalizations, higher resource utilization, and are the leading cause of infant mortality in the NICU.2 Genetic test results may improve health outcomes by identifying options for changes in diet and medication, but may also reveal a need for future screening, surgeries, or to switch to palliative care. Rapid detection is critical in these situations because treatment options, family counseling, and decision making are often dependent on test results.1
After newborn screening, the most common genetic test performed in the NICU is a chromosome analysis. If these tests don’t reveal a cause, determining next steps can be difficult when symptoms and physical features don’t suggest a specific genetic condition to test for. Unfortunately this is a common problem in diagnosing newborns since disease characteristics are often absent in the newborn period, or don’t suggest a particular disorder for which testing is available. Exome sequencing is commonly used in these situations (see more information about exome sequencing on this blog post). This test is designed to test over 22,000 genes in the human genome. However, results may take several weeks, by which time treatment decisions have been made, newborns may be discharged from the hospital, or irreversible damage may have occurred.
In recent years, a small handful of labs began offering rapid exome and genome testing where results can be available in two weeks or less. Although these tests have good detection rates, there are drawbacks. The current cost of these tests is very high, which limits access.4 They may identify information unrelated to the baby’s current condition, causing additional unwanted stress for the family. In addition, these tests can identify changes in genes that have not been well described or diagnose disorders where there is little clinical information. This can make counseling the family very difficult because there may not be enough information about the gene(s) or diagnosis to make clear treatment decisions.5,6
A proposed alternative to rapid exome sequencing is the development of a rapid gene panel which includes the most common conditions in the newborn period that could result in a NICU admission. This could provide doctors and parents with a cost-effective alternative that isn’t fraught with the possibility of unwanted genetic information. Quest Diagnostics hopes to fulfill these critical testing needs by providing the NewbornDxTM Advanced Sequencing Evaluation. This new test provides a targeted approach to testing in a turnaround time meant for the NICU.
To learn more about the NewbornDxTM Advanced Sequencing Evaluation, go to AthenaDiagnostics.com.
March of Dimes. National Perinatal Information Center: Quality Analytic Services. Special Care Nursery Admissions. https://www.marchofdimes.org/peristats/pdfdocs/nicu_summary_final.pdf. Accessed April 18, 2019.
Farnaes L, Hildreth A, Sweeney NM, et al. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4 eCollection 2018.
Petrikin JE, Cakici JA, Clark MM, et al. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med. 2018 Feb 9;3:6. doi: 10.1038/s41525-018-0045-8 eCollection 2018.
Meng L, Pammi M, Saronwala A, et al. Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.
Ayres S, Gallacher L, Stark Z, Brett GR. Genetic counseling in pediatric acute care: reflections on ultra-rapid genomic diagnoses in neonates. J Genet Couns.2019 Apr;28(2):273-282. doi: 10.1002/jgc4.1086 Epub 2019 Jan 21.
Ceyhan-Birsoy O, Machini K, Lebo MS, et al. A curated gene list for reporting results of newborn genomic sequencing. Genet Med.2017 Jul;19(7):809-818. doi: 10.1038/gim.2016.193 Epub 2017 Jan 12.