Unlocking the Potential of Rapid Whole Genome Sequencing as a First-Tier Test for Genetic Diagnostics

The Power of Rapid Whole Genome Sequencing in the NICU

A Game Changing First-Tier Diagnostic Tool

Many NICU and PICU patients with genetic disorders are discharged or die before their diagnosis has been established. The challenges are many, and they compound one another: limited access to rapid and accurate diagnostics, leading to a diagnostic odyssey which takes years to resolve and contributes to an overall lack of clinical insight and inability to make informed decisions.

According to the Centers for Disease Control, almost 20,000 infants died in the United States in 2020, and congenital malformation was one of the leading causes of infant mortality at 31%. On top of that, the manifestation of genetic abnormalities is far from clear. With over 7,000 genetic disorders and variable types of genetic defects that may not fully manifest at the newborn or infant stage, it can be near impossible to pinpoint the cause of the issues, let alone treat them.

Rapid Whole Genome Sequencing (rWGS) has the potential to curtail or even eliminate the diagnostic odyssey for NICU patients and their families, helping providers make informed treatment decisions for the smallest and most vulnerable patients.

The comprehensive nature and short turnaround time of Baylor Genetics’ rWGS make it the best choice for delivering critical information. With a hardcopy report provided in 5 calendar days, the all-in-one solution analyzes small nucleotide variations (SNV), copy number variations (CNV), the mitochondrial genome, short tandem repeats (STR), and identifies regions of homozygosity (ROH).

Read on for examples of how rWGS provided answers for two young patients.

Case Study 1: rWGS Identifies SNV & CNV Simultaneously

Patient: A two-week-old newborn in the pediatric intensive care unit (PICU) with hypotonia, hypoglycemia, respiratory failure, hypoxemia, and hypercapnia.

With rWGS providers identified two variants, a SNV and CNV, in the DOK7 gene, which is necessary for the formation of connections between nerve cells and muscle cells, in the neuromuscular junction. Variants in the DOK7 gene have been found to cause congenital myasthenic syndrome.

With this information in hand, providers began ephedrine treatment for the congenital myasthenic syndrome, which can lead to a profound improvement in symptoms.

Case Study 2: rWGS Reports Complex Chromosome Pattern

Patient: Symptoms of the newborn patient included growth retardation, retrognathia, apnea, feeding difficulties, cryptorchidism, small scrotum, hypotonia, prominent nasal bridge, and edema.

The patient’s rWGS report uncovered a complex chromosome rearrangement involving chromosomes 15 and 17, both of which contain genes that provide instructions for making proteins to perform a variety of roles in the body. A loss of active genes in the affected region of chromosome 15 causes Prader-Willi Syndrome.

With the Prader-Willi Syndrome diagnosis, providers could immediately initiate treatment for symptoms improving the overall quality of life for the affected child.

From Promise to Practice: How rWGS is Transforming Patient Outcomes

The two previous case studies illustrate the potential of rWGS to overcome complex challenges, particularly in the neonatal intensive care unit and PICU settings. The comprehensive detection power of WGS, with its rapid processing and reporting, is recommended as a first-tier genetic test for clinicians, especially for critically ill children in intensive care. Utilizing WGS to provide a clear diagnosis and determine the underlying genetic etiology, aids clinicians in providing the best medical management correct treatment options for their patients.

For more details on rWGS and to start a test order with Baylor Genetics, click here.

To view Baylor Genetics’ test options for NICU/PICU patients, click here.

For more case studies or to access the full presentation from Dr. Hongzheng Dai’s talk, “Rapid Whole Genome Sequencing (rWGS) as first-tier test for critically ill children with suspected genetic etiology,” at the American Society of Human Genetics Annual Meeting (2022), please contact your Baylor Genetics representative. Alternatively, you may also reach out to our client services team via email at help@baylorgenetics.com or by calling 1-800-411-4636.

Source:

  1. Dai H. (2022 Oct 28). Rapid Whole Genome Sequencing (rWGS) 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.
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