A Powerful First-Tier Diagnostic Tool
Every day counts in the neonatal and pediatric intensive care unit (NICU and PICU), where healthcare providers work tirelessly to both manage symptoms and identify a diagnosis for their patients.
A recent cohort study of infant deaths identified genetic disorders as the most common cause of infant mortality (41%) [1], and with delayed diagnoses often leading to longer hospital stays and poor outcomes for up to 40% of patients, there is a growing need for more comprehensive diagnostic solutions [2]. That’s where Baylor Genetics’ Rapid Whole Genome Sequencing (WGS) comes in, offering critical insights to help guide treatment decisions, inform medical management, and potentially shorten the diagnostic journey for these vulnerable patients.
With written results starting at five days, Rapid WGS analyzes small nucleotide and copy number variations (SNVs/CNVs), the mitochondrial genome, 29 tandem repeat disorders (TRDs), and identifies regions of homozygosity (ROH) – making it a true all-in-one solution. Additionally, Rapid WGS at Baylor Genetics now features RNAseq* as a complementary reflex option.
We recently caught up with Jennah Foltz, MS, CGC, from Indiana University Health who emphasized the transformative power of Rapid WGS in driving proactive healthcare. Click here to listen to her insights.
From Promise to Practice: How Rapid WGS is Transforming Patient Outcomes
CASE STUDY 1: RAPID WGS HAS IMPACT ON MEDICAL MANAGEMENT
Patient: 2-month-old with seizures, feeding difficulties, lethargy, concern for sepsis, and fever.
The patient had no prior genetic testing; the initial differential diagnoses by the clinic included 22q11.2 deletion syndrome, 15q duplication syndrome, Angelman syndrome, GLUT1 deficiency, and Dravet syndrome. Rapid Trio WGS identified compound heterozygous variants in the COQ5 gene, confirming a diagnosis of a primary coenzyme Q10 deficiency 9. Rapid WGS provided a timely diagnosis within a large differential, enabling initiation of coenzyme Q10 supplementation and supportive therapies. Rapid Trio WGS revealed that both COQ5 variants were inherited, informing the potential recurrence risk for this family.
CASE STUDY 2: A RAPID DIAGNOSIS ALLOWS NICU TEAM TO QUICKLY DIRECT CLINICAL CARE
Patient: 3-day old with hypotonia, hypoglycemia, feeding difficulties, long fingers, retrognathia, and abnormality of the gingiva.
The patient had no prior genetic testing; the initial differential diagnoses included spinal muscular atrophy, metabolic disorders, Prader-Willi syndrome, and Angelman syndrome. With Rapid Trio WGS, a pathogenic copy number loss was detected on the paternally inherited copy of chromosome 15, leading to a diagnosis of Prader-Willi syndrome. This crucial finding allowed the NICU team to make swift, targeted clinical decisions
CASE STUDY 3: RAPID WGS IDENTIFIES SNV & CNV SIMULTANEOUSLY
Patient: A two-week-old in the pediatric intensive care unit (PICU) with hypotonia, hypoglycemia, respiratory failure, hypoxemia, and hypercapnia.
With Rapid WGS providers identified two variants, a SNV and CNV, in the DOK7 gene; this gene is known to be necessary for the formation of connections between nerve cells and muscle cells in the neuromuscular junction. Pathogenic variants in the DOK7 gene have been found to cause congenital myasthenic syndrome. With a clear diagnosis in this patient, providers began treatment with ephedrine, a medication known to be effective in improving symptoms of congenital myasthenic syndrome.
Next Steps for Advancing Patient Care: These case studies [3] illustrate the potential of Rapid WGS to address complex challenges in the NICU and PICU settings. With its quick turnaround time and broad detection capabilities, Rapid WGS demonstrates its significance as a first-tier test, especially for critically ill children.
At Baylor Genetics, we offer a comprehensive test menu including Rapid Whole Exome Sequencing, also with RNAseq*, as well as Chromosomal Microarray Analysis, mitochondrial testing, and targeted panels to make prompt diagnoses that will help inform patient care and provide answers that families need.
For more information on how our genetic testing solutions can enhance outcomes for you and your patients, please connect with us.
*RNAseq is performed on qualified variants at the lab director’s discretion with any findings provided as an updated (addendum) report.
References:
- Owen MJ, Wright MS, Batalov S, Kwon Y, Ding Y. et al. Reclassification of the Etiology of Infant Mortality with Whole-Genome Sequencing. JAMA Netw Open. 2023 Feb 1;6(2)
- Maria Davalos, Kenya Samuels, Ashley N D Meyer. Finding diagnostic errors in children admitted to the PICU. Pediatr. Crit Care Med 2017 Mar;18(3):265-271
- Dai H. (2022 Oct 28). Rapid Whole Genome Sequencing as first-tier test for critically ill children with suspected genetic etiology [PowerPoint]. American Society of Human Genetics 2022 Annual Meeting, Los Angeles, CA, United States.
