This is the first in a series of posts where we will emphasize the importance of timely testing for inherited genetic disorders in neonatal intensive care units (NICUs), confirmatory testing labs as well as metabolic and hearing loss clinics. We believe that a targeted next-generation sequencing panel is the best way to achieve this goal. Specifically topics will include neonatal diagnostics, newborn screening, confirmatory testing, non-invasive methods for sample collection (dried blood spots), our database of rare variants and mitigating reimbursement risks. Just to name a few.
Abstract: Newborn genetic disorders in the US are mostly inherited Rare Genetic Diseases that once diagnosed will provide actionable information. Newborns are also disproportionately affected by rare monogenic diseases including hearing loss, inborn errors of metabolism, and lysosomal storage disorders.