For acutely and critically ill babies, using rapid whole genome sequencing (rWGS) as a first-tier test can influence clinical management, reduce overall healthcare costs, and prevent a diagnostic odyssey.
Change clinical management
in 61% of patients2
Reduce healthcare costs
by $12K-16K per patient2
Reduce the length of NICU
stays by >457 days2
For patients whose condition can’t be completely explained by trauma, infection, or prematurity, choose rapid genetic testing.
of diagnoses made by rWGS would not have been predicted by clinical features3
Meet Billy*, an infant presenting with hypotonia at birth
Initial workup uncovered severe metabolic acidosis and lactic acidemia, and family history revealed Billy’s brother died on day 1 of life with similar presentation. Given the family history, Billy’s healthcare provider wanted answers quickly and ordered rapid whole exome sequencing.
Testing identified a homozygous pathogenic variant in the HLCS gene, which causes metabolic acidosis, organic aciduria, irritability, lethargy, hypotonia, dermatitis, and seizures. If left untreated, this condition can lead to intractable seizures, coma, developmental delay, and cerebral edema.
As a result of this genetic diagnosis, Billy’s care team made important, informed medical management changes and administered biotin, which resulted in improved feeding, increased alertness, and resolution of hypotonia.
The rapid exome test delivered actionable results within 5 days that helped determine the correct treatment for Billy and likely provided answers for the family regarding the loss of their other child.
Meet Anne*, a newborn presenting with colonic atresia
Following surgery to repair the colonic atresia, Anne was transferred to the NICU for post-operative monitoring and management. Anne developed multiple infections while in the NICU, so her doctors ordered a complete blood count (CBC) and flow cytometry as part of her workup, but the results didn’t fully explain her symptoms.
For clearer answers, her medical team ordered rapid whole genome sequencing (rWGS). Results revealed compound heterozygous variants in the TTC7A gene, which are associated with gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1). Based on this testing, Anne’s team made important and informed medical management changes, including IgG replacement, administration of prophylactic medications, and her feeding intolerance was determined to be caused by her genetic condition vs. post-operative complications.
The rapid genome test delivered actionable results within 5 days, helped determine the correct treatment plan for Anne, and established a path forward for her family and care team.
There are babies like Anne and Billy in every NICU, PICU, and CICU with rare genetic disorders that will remain undiagnosed without access to comprehensive genetic testing like rapid whole exome sequencing (rWES) and rWGS. However, identifying these patients isn’t always straightforward.
Phenotypic-driven rWGS and rWES testing in the NICU has been associated with an increased diagnostic yield over infants tested without phenotypic stratification.4-5 The criteria below can help you begin to identify patients in the NICU that could benefit from rapid genetic testing.4,6-9
If you have a patient presenting with one or more of the following, rapid genetic testing should be considered:
Help your patients get the care they need.
For infants, the diagnostic yield of genome and exome testing is up to 4x greater than CMA and turns around results in 5-7 days.2,10,11
Trio testing can increase diagnostic yield by 7-15%11-14 and significantly lower VUS rates (18.9% vs. 27.6%)15 compared to testing that does not include samples from both parents, leading to a more definitive diagnosis. Starting with trio testing reduces the need for follow-up testing, shortens the time to diagnosis, and improves the interpretation of genetic data.
GeneDx offers buccal swab kits as an additional sample collection method for our rapid genome (GenomeXpress®) and rapid exome (XomeDxXpress®) tests which can make it easier for providers to collect biological relative samples for trio testing.
Studies have shown that parents and caregivers of babies in the ICU see the benefits of this comprehensive testing.
For your patients with complex or rare diseases, a precise, timely diagnosis can mean more than changes in medical management; it can help families cope and determine the best path forward, whether it involves:
of families whose infants received WGS reported testing was somewhat useful even if they did not receive a genetic diagnosis16
Through our research and collaborations, we’re working to transform the standard of care for newborns. We are driven to improve infants’ quality of health through early diagnosis and treatment with genomic sequencing, and eventually expand standard newborn screening protocols:
We are demonstrating the broad utility of rapid whole genome sequencing for critically ill babies. Results are expected to provide guidance about the best ways to help find a precise genetic diagnosis, better anticipate patient needs, and take advantage of new treatments.
We are collaborating on the Genomic Uniform-Screening Against Rare Diseases in All Newborns (GUARDIAN) study to provide whole genome sequencing and interpretation services for a landmark genomic newborn screening study focused on screening 100,000 newborns for 250 genetic conditions not currently included in standard newborn screenings. Early diagnosis of a genetic condition can guide treatment options, medications, or interventions to prevent or reduce symptoms.10,17
With comprehensive care from start to finish, we offer more than just a test result. Experience the GeneDx difference and help your patients find answers.
* for illustrative purposes only