Newborn genome sequencing project identifies unanticipated disease risks NewbornGenomics GeneticScreening PrecisionMedicine InfantHealth FamilyCare GeneticRisks Newborn CellPressNews AJHGNews
By Dr. Priyom Bose, Ph.D.Jun 7 2023 Due to the recent advancements in genome-scale sequencing, complete genomic sequencing of a newborn can be performed shortly after birth. Analysis of this sequence enables the detection of deleterious variants linked to monogenic diseases. Even though such a screening tool is currently available, it is associated with several ethical, evidentiary, and cost-related issues.
What is the BabySeq Project? The BabySeq Project encompasses a series of clinical trials on newborns that have been funded by the National Institute of Health . These clinical trials are associated with newborn screening using genomic sequencing , which provides empirical data on mechanisms of consent, disclosure methods, gene curation, and variant interpretation. Furthermore, these trials also focus on behavioral, medical, and economic outcomes.
These data were related to genetic conditions that could be expressed during childhood and were highly penetrant or childhood actionable and were moderately penetrant. It was noted that penetrance is most likely to be underestimated when genetic disorders present milder or subclinical features. The concept of penetrance is based on which particular phenotype is analyzed and over what time.
Related StoriesThe BabySeq Project was involved with actionability analysis, where the clinical severity of potential conditions was identified. Subsequently, the available interventions were graded based on the ClinGen actionability semi-quantitative metric . A visual representation of these scores for each infant was generated.
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