When Every Minute Matters: Introducing GenomeDx™ ultraRapid Duo and Trio
For critically ill infants, time is not just important—it’s everything. In neonatal intensive care units (NICUs), clinicians are often faced with the most complex and urgent cases: newborns with unexplained seizures, respiratory failure, congenital heart disease, or rapid, multi-system decline. In many of these scenarios, an underlying genetic condition may be the cause.
The challenge is that traditional diagnostic pathways can take too long. While care teamswork tirelessly to stabilize patients, they are often doing so without a clear understanding ofthe root cause. This uncertainty can delay targeted treatment, prolong hospital stays, andadd emotional strain for families searching for answers in the most critical moments.
The Case for Rapid Genomic Answers
Rapid and ultraRapid genome sequencing is changing what’s possible in intensive care.Compressing the diagnostic timeline from weeks to as soon as 48 hours, clinicians canidentify genetic causes earlier—when those insights can most directly inform care.
A timely diagnosis may guide medication selection, inform surgical decisions, or help avoidunnecessary and invasive procedures. In some cases, it can also provide the clarity neededto shift goals of care. Just as importantly, it offers families answers during moments ofprofound uncertainty.
A recent case study in congenital heart disease highlights just how powerful thisimpact can be. In a critically ill infant with complex cardiac anomalies and an unclearunderlying cause, ultraRapid genome sequencing enabled a genetic diagnosis withindays—providing immediate clarity on the condition driving the patient’s presentation. Thatdiagnosis not only helped refine the care plan and guide clinical decision-making, but alsoinformed prognosis and aligned the care team and family on next steps. Rather thancontinuing a prolonged and uncertain diagnostic workup, the care team was able to actwith confidence—demonstrating how rapid genomic insights can directly shape outcomesin the most time-sensitive settings.
As the clinical value of rapid sequencing becomes increasingly clear, so does the need foreven greater speed, accuracy, and confidence in results.
Introducing GenomeDx™ ultraRapid Duo and Trio
To meet this need, we are expanding our rapid genomic testing portfolio with the launch ofGenomeDx™ ultraRapid duo and trio test options. Building on the success of ourultraRapid proband offering, these new options are designed to deliver even faster, moreprecise answers for critically ill pediatric patients.
By combining accelerated whole genome sequencing with parental comparators,GenomeDx™ ultraRapid duo and trio testing enables clinicians to identify clinically actionable variants with greater speed and confidence—helping ensure that criticaldecisions are informed by the most complete genetic picture possible.
Why Parental Context Changes Everything
In high-acuity environments, every layer of clarity matters. Duo and trio testing incorporategenetic data from one or both parents, allowing clinicians to more quickly determinewhether a variant is inherited or de novo.
Starting with a trio enables:
- More precise variant classification with greater diagnostic certainty1
- Higher diagnostic yield2 which may result in fewer variants of unknown significance(VUS)1
- Faster clarity for time-sensitive diagnostic evaluation
This added context can significantly reduce uncertainty in interpretation, streamlineanalysis, and accelerate time to diagnosis. For care teams under pressure to act quickly,that means fewer ambiguities and more confidence in the decisions they make. For families, it means faster answers when they need them most.
One Year of ultraRapid Impact—and What Comes Next
Over the past year with GenomeDx™ ultraRapid proband testing, rapid genome sequencinghas helped deliver timely, actionable insights to families and clinicians navigating some ofthe most critical situations in pediatric care.
The addition of duo and trio testing reflects our continued commitment to advancinggenomic medicine—expanding both the speed and depth of insights available when theymatter most.
Available Now for Time-Sensitive Care
GenomeDx™ ultraRapid duo  and ultraRapid trio  are available toorder now, with active test codes ready for clinical use.Commented [RF12]: We have stats you can pull in here:Starting with a trio enables:- More precise variant classification with greaterdiagnostic certainty1- Higher diagnostic yield2 which may result in fewervariants of unknown significance (VUS)1- Faster clarity for time-sensitive diagnostic evaluationReferences: 1. Farwell KD et al. Genet Med 2015Jul;17(7). 2.Clark MM et al. NPJ Genom Med. 2018 Jul9;3:16As the role of genomics in acute care continues to grow, so does the opportunity totransform outcomes. With GenomeDx™ ultraRapid, we are helping bring faster answers,greater clarity, and more confident decision-making to the moments that matter most.
