Genetic Disorders in Newborns, Infants – Early Diagnosis Promise With Genome Sequencing

Genetic Disorders in Newborns, Infants – Early Diagnosis Promise With Genome Sequencing

It seems like genetic disorders in newborns and infants can finally be diagnosed with the help of the ever-evolving tech. Check out the latest reports about this interesting subject below.

New tech can diagnose newborns and infants’ genetic disorders

A recent national study conducted by Tufts Medical Center in Boston has discovered that whole genome sequencing (WGS) is almost twice as effective as targeted gene sequencing in identifying abnormalities that lead to genetic disorders in newborns and infants.

The study, titled “The Genomic Medicine for Ill Neonates and Infants (GEMINI) Study: A Comparative Analysis of Rapid Whole Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder,” was published on The Journal of the American Medical Association (JAMA) website on July 11, 2023.

The GEMINI Study, which was funded by the National Institutes of Health, enrolled 400 newborns and infants under the age of one year. The study was conducted at six centers across the United States and included patients with a variety of suspected, undiagnosed genetic disorders.

Each newborn/infant received two tests: WGS, which can identify variants in all 20,000 genes in the human body, and NewbornDx, a targeted gene sequencing test that can identify variants in 1,722 genes linked to genetic disorders in newborns/infants.

Study findings

The study found that WGS detected a genetic disorder in 49% of patients, while the targeted gene sequencing test identified a genetic disorder in 27% of study participants.

Our study revealed that the panel being used for diagnosis missed 40% of the diagnoses that the whole genome sequencing (WGS) method was able to capture.

Furthermore, our research team discovered 134 new genetic diagnoses that had never been documented before. In total, 51% of the patients involved in the study were diagnosed with a genetic disorder using either test.

It is worth noting that over half of the infants in our study had a genetic disorder that would have gone undetected in most hospitals across the country if not for the use of genome sequencing technologies.

It is crucial to diagnose an infant’s genetic disorder as early as possible to ensure optimal medical care.

According to a study, Whole Genome Sequencing (WGS) is still the most reliable method for accurately diagnosing genetic disorders in newborns and infants, despite its imperfections. Jonathan Davis, MD, the Chief of Newborn Medicine at Tufts Medical Center and Co-Principal Investigator, confirms this. However, the researchers emphasized that WGS has its drawbacks. On average, it takes two full days longer (six days vs. four days) to receive routine results from WGS compared to the targeted gene sequencing test.

There is a cost-effective and targeted test available that screens for genetic disorders specific to newborns and infants, reducing the risk of revealing potential health risks later in life that parents may not want to know about, such as Alzheimer’s or cancer.

However, the GEMINI Study found that there is a lack of standardization in neonatal genetics interpretation, with different laboratories disagreeing on the cause of suspected genetic disorders in 40% of cases.

Rada Mateescu

Passionate about freedom, truth, humanity, and subjects from the science and health-related areas, Rada has been blogging for about ten years, and at Health Thoroughfare, she's covering the latest news on these niches.

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