Committed to fulfilling the promise of more precise care for children with suspected developmental differences through whole genome sequencing.
Conventional care for children with rare diseases is often empirical, imprecise, and only modestly effective—leaving substantial room for improvement and innovation. The “promise” of more precise, and by inference, better care, begins with accurate genetic diagnoses. SeqFirst is a project that tests whether whole genome sequencing of children with suspected developmental differences at point-of-diagnosis, as opposed to conventional diagnostic evaluations, will lead to earlier, more rapid diagnoses, reduce costs of these diagnoses, and improve therapeutic outcomes. This project is in partnership with Illumina, a firm that designs, manufacturers, and markets systems for analyzing genetic variations, and GeneDx, which specializes in testing for rare genetic disorders.