A Window of Opportunity for Newborn Screening

AbstractMolecular diagnostics and therapies play a central role in an era of precision medicine, with the promise of more accurate diagnoses and more effective treatments. Universal newborn screening (NBS) identifies those health conditions that must be treated in early life and before clinical symptoms become apparent, to maximize effectiveness, prevent morbidity, and reduce or eliminate mortality. However, enthusiasm about NBS as the logical platform for early identification is tempered by the realization that NBS under public health authority exists in a complex ecology in which technology and medicine intersect with politics, ethics, advocacy, and resource constraints —a classic translational challenge that is exacerbated when considering the possible introduction of genome sequencing and molecular therapies in NBS. Substantial change is inevitable if the current model of NBS can be prepared for an envisioned future of greatly expanded molecular diagnostics and therapies. A window of opportunity for modernization now exists, but what changes are needed? The purpose of this commentary is to identify five major initiatives to stimulate focused discussion on how modernization might be achieved: (1) build systems for more rapid collection and integration of e xtant data relevant to NBS; (2) establish a national network of NBS research centers to design and conduct prospective research studies addressing critical NBS questions; (3) create a network of regional NBS laborator...
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research