Abstract
Care for families with rare diseases is often empirical, imprecise, and modestly effective - leaving substantial room for improvement and innovation. The “promise” of more precise, and by inference, better care, begins with an accurate genetic diagnosis. Yet, many if not most children with a rare disease are not offered, much less, receive genetic testing. SeqFirst is a project to develop and test approaches toward centering equity for a precise genetic diagnosis at initial point of care for infants hospitalized with a critical illness (ie, SeqFirst-neo) and non-hospitalized infants or toddlers with atypical development (ie, SeqFirst-ddi) by simplifying clinical workflows and supporting provider readiness.
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