Children with a suspected genetic or undiagnosed disease experience diagnostic odysseys. Genomic sequencing provides a powerful diagnostic tool, thereby decreasing costs related to multiple clinical evaluations, imaging studies, and laboratory tests. This provides psychological benefits for these patients and their families. Genomic sequencing can also complement existing newborn screening programs, however, there are many technical, clinical, ethical, and societal challenges to be addressed before genomic sequencing is widely used in the pediatric population for diagnosis or screening.
Authors discuss how a flexible microsimulation model synthesizes available clinical and epidemiological data, assesses rapidly emerging variant-disease associations, projects long-term outcomes, and estimates the potential value of newborn genomic screening focusing on specific sets of genes in unselected or targeted populations.
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