Exome Sequencing in the NICU

Whole exome sequencing (WES) is one of the most powerful and useful diagnostic tools for diagnosing sick children. WES analyzes thousands of genes to identify changes and discover the source to a patient’s medical condition. At Baylor Genetics, we have a variety of WES testing options available for our providers and partner, which include:

  • Critical Trio WES
  • Trio WES
  • Proband WES
  • Prenatal WES

About Whole Exome Sequencing

Unlike older technology where only one gene could be tested at a time, WES uses state-of-the-art technology to study a person’s exome. The exome refers to the exons, which are important protein-coding sections of DNA that are contained in genes. The majority of DNA changes that may cause a genetic disorder are found in exons.

Sequencing is a technology that looks at each letter in every sentence of DNA in the exome, which allows scientists to compare the DNA of a person who has medical issues to the DNA from a person without medical issues. Although WES looks at thousands of portions of genetic material at the same time, this technology cannot see all genetic changes that may lead to genetic conditions, which is why additional testing may be recommended. The exome diagnosis rate at Baylor Genetics is ~30% for proband or trio exome, ~40% for prenatal trio and critical trio exome, and ~50% in an acute care setting (critical trio WES). Ordering WES with a shorter turnaround time can impact health outcomes in a significant way, especially for younger patients.

Critical Trio WES in the NICU

 All of BG’s WES tests serve a purpose, but there is one that stands out for patients in the NICU – Critical Trio WES (test code 1722). Critical Trio WES is one of BG’s most ordered test in the neonatal and pediatric intensive care units.  

The BG team is consistently thinking of and researching ways to make this test even better. The answer was pretty simple: reduce the turnaround time, improve access, and increase the diagnostic rate. This new iteration of BG’s Critical Trio WES test has an improved turnaround time of 5 days. This means patients can obtain a diagnosis much sooner, which can potentially alter management and treatment of the infant or child. 

In addition to the reduced turnaround time, BG has made this testing option more affordable and worked with third-party payers to improve insurance coverage for WES so more families have access to this extremely important test. It has been BG’s goal to make sure this test is available for the vulnerable and seriously unwell children in the NICU. For more information, please contact your BG rep or email help@baylorgenetics.com.

The final change BG has made to its Critical Trio WES test is increasing the diagnostic rate. This has been done through an improved wet lab performance for better read coverage, an improved dry lab performance utilizing AI with better variant calling and annotation, and access and references to the best knowledge databases. All of the improvements made to BG’s test will greatly impact patients in the NICU.

Helping Patients in the NICU 

Being one of the first labs to provide WES clinically over 10 years ago, BG is a leader in exome testing. In December 2017, BG published data about its WES results from December 2011 to January 2017 in the JAMA Pediatrics. Participants were 278 unrelated infants from Texas Children’s Hospital in Houston, Texas who underwent clinical exome testing via either a proband, trio, or critical WES test in the first 100 days of life. There were a range of clinical indications for exome testing and of the 278 cases, a molecular diagnosis was obtained in 102 infants (36.7%). Obtaining a diagnosis significantly altered the medical management in 53 (52%) of these children. 

Read more WES publications from the BG team:

At BG, we are honored that we can play a part in the health and wellbeing of a sick child. For more information about our new Critical Trio WES, visit: https://test-dev.baylorgenetics.com/whole-exome-sequencing/. 

Why Baylor Genetics?

Improving healthcare is at the core of our DNA. Through continuous innovation and research, our team is equipped to provide physicians the best results for their patients. Baylor Genetics is able to diagnose rare diseases and disorders because of our existing large-scale, high-throughput capabilities and our CLIA-certified, CAP–accredited laboratory.

References

  • 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;171(12):e173438. doi:10.1001/jamapediatrics.2017.3438
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