Genetic Conditions Responsible For 41% of Infant Mortality, Study Finds

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According to a recent report published in JAMA Network Open, the Rady Children’s Institute for Genomic Medicine (RCIGM) has discovered that genetic diseases have a more significant impact on infant mortality rates than previously believed. The study analyzed 112 infant deaths, revealing that Mendelian(single-locus) genetic diseases were the leading antecedent of infant mortality, contributing to 41% of the deaths.

Researchers establish a way to treat genetic diseases

A recent study indicated that around 30% of genetic diseases could be treated effectively, which suggests that early diagnosis in neonates can substantially decrease mortality rates in the first year of life. Stephen Kingsmore, MD, the President and CEO of RCIGM, stated that preventable deaths are often caused by undiagnosed genetic diseases and that there are approximately 500 genetic diseases that can be treated effectively. Dr Kingsmore further recommends that genomic sequencing be used more widely in the first year of life to achieve a greater impact on reducing infant mortality.

Christina Chambers, PhD, MPH, who co-led the study, stated that previous etiologic research on infant mortality relied on retrospective analysis of electronic health records and death certificates, which lacked genetic information, causing genetic disorders to be underdiagnosed. These studies have shown that about 30% of death certificates are incorrect. Therefore, implementing the widespread use of genome sequencing in newborns could significantly decrease infant mortality.

In June 2022, RCIGM announced the launch of a new initiative to test the scalability of a precision medicine and diagnostic tool called BeginNGS, which employs rapid Whole Genome Sequencing (rWGS) to screen newborns for approximately 500 genetic disorders that have established treatment options.

BeginNGS employs rWGS in diagnosis and treatment planning

BeginNGS utilizes rWGS for preemptive diagnosis and treatment planning of genetic conditions prior to the manifestation of symptoms. This approach surpasses existing pediatric applications of rWGS, which primarily concentrate on children who are already in a critical state. Upon achieving a diagnosis, BeginNGS leverages Genome-to-Treatment (GTRx), a utility that promptly furnishes physicians with treatment recommendations, allowing them to comprehend the genetic condition and the corresponding therapeutic choices, such as surgical procedures, dietary modifications, medical equipment, and other interventions.

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