Christine Eng, MD, Chief Medical Officer at Baylor Genetics, discusses how whole genome sequencing can lead to early diagnosis and intervention.
At the 2024 International Consortium on Newborn Sequencing (ICoNS), Baylor Genetics presented findings from the poster, “Furthering the Dialogue on Newborn Sequencing: Insights from Neonatal Rapid Whole Genome Sequencing.” A retrospective analysis comparing whole genome sequencing (WGS) results of neonatal patients versus traditional newborn screening (NBS) was conducted. The goal was to discover conditions that may have been missed by NBS and see the effects of diagnosis on treatment.
From the analysis, it was discovered that WGS was able to identify actionable genetic diagnoses, 73% of which were not detected by NBS panels. As Dr. Eng explains, with rapid WGS the median age of diagnosis for the 56 patients involved in the analysis was 8 days old. Additionally, after diagnoses were identified, 62% of patients had changes made to their medications,, about 60% had a surgical operation, about 9% had dietary changes, and about 60% received other forms of supportive care.
These results indicated a strong value of WGS in early diagnosis and intervention that can result in better, personalized treatment for newborns.
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To learn more about rare genetic diseases, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
