Study Insights: Genome Sequencing & Health Newborns

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Study Insights: Genome Sequencing & Health Newborns

As part of our ongoing commitment to updating Medical Professionals and Families on healthcare trends and advancements, ViaCord is thrilled to share ground-breaking insights from a recent study on genome sequencing published in JAMA. This study, led by genomic experts at ViaCord's parent company, Revvity analyzed genetic data for pediatric conditions providing valuable health insights for newborns and children.

Let's Take a Deeper Look

Have you ever wondered about the potential benefits of screening newborns for genetic conditions? The study in focus helps provide some perspective on the potential future role genome sequencing could play in caring for the long-term health of newborns. The researchers compared two methods to identify health risks early on. 

  1. The first method is genome sequencing, which examines an individual's genetic code to detect any potential issues.
  2. The second method involves using a gene panel, which examines a set of genes known to be associated with health problems, in children.

DNA Strand with Variant

Genome Sequencing identifies your complete DNA blueprint

The Findings

The researchers observed two groups of apparently healthy children. One group (consisting of 562 children) underwent screening through genome sequencing while another group (comprising 606 children) underwent screening using the gene panel. The objective was clear; determine which method showed greater promise in identifying potential genetic issues.

Here's what the study revealed:

  • Through genome sequencing, they discovered that 8.2%(~1:12) of children carried genetic findings that could impact their health from an early age.

     
  • Interestingly a significant 46.8% of these findings were associated with health conditions that required immediate intervention.

     
  • In contrast when using the gene panel method 2.1% of the screened children displayed risks for conditions that typically arise in childhood.

A Significant Advancement

The implications of this study are noteworthy. Genome sequencing, with its comprehensive approach and technical advantages, outperformed gene panel testing in terms of identifying potential pediatric health risks. This difference could guide interventions and medical management ultimately improving outcomes for thousands of children facing high-penetrance conditions.

Happy brother and sister run in field

A promising approach towards helping protect newborns from potential health risks

ViaCord's Role

ViaCord's service played a crucial role in this study. A healthy screening option was offered as part of ViaCord’s service, for families who were enrolled in cord blood or tissue banking. The anonymized, deidentified data analyzed for the study was derived from families purchasing ViaCord's Whole Genome Sequencing and Gene Insights Panel Tests. Information from these tests can be used to help guide the approach towards making healthcare decisions for newborns.

View the full study details on the Journal of American Medical Association (JAMA) Network

 

 

 

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Disclaimer: Banking cord blood does not guarantee that treatment will work, and only a doctor can determine when it can be used. Revvity or ViaCord does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice.

 

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