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Newborn and Population Screening and Diagnosis

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Newborn screening research initiatives within the NICHD and specifically within the IDDB have experienced considerable growth during the past decade.  Newborn screening enables identification of infants who are at risk for congenital disorders (often biochemical, hematologic, endocrinologic, and/or genetic) for which early interventions and treatments have the potential to reduce morbidity and mortality. 

Although routine screening has occurred at the state level since the 1970s, screening tests available have historically varied significantly by state; similarly, few states have evaluated the rationale for or efficacy of the tests systematically.  Because these programs screen more than 4 million infants per year, newborn screening represents the most common form of genetic testing performed in the United States.

The Hunter Kelly Newborn Screening Research Program within the IDDB focuses on developing systematic methods to identify additional conditions appropriate for newborn screening; developing and testing innovative interventions and treatments to improve outcomes; educating the provider workforce; developing and implementing appropriate information and communication systems for parents and providers; and sponsoring ongoing programs of research and research training in newborn screening. 

One of the resources created to support investigators in the newborn screening community is the Newborn Screening Translational Research Network External Web Site Policy, a contract awarded to the American College of Medical Genetics and Genomics to provide infrastructure for research to advance diagnostics and treatment of newborn screening disorders and conditions that may be amenable to newborn screening in the future. Some of the resources developed by the Network include a virtual repository of dried bloodspots to facilitate access to these valuable resources by investigators, support for laboratory testing algorithms and decision matrices, and development of databases to allow long-term followup research studies on newborn screening disorders.​​​

A program initiated in 2013 funds pilot studies that will test genomic approaches in the newborn period and in the newborn screening environment. This program, utilizing the resources of the NBSTRN, has been developed in partnership with the National Human Genome Research Institute and includes clinicians, bioethicists, genomicists, bioinformaticians, and newborn screening experts working on collaborative projects that have the potential to facilitate improved diagnosis of many genetic conditions at an earlier age when treatments may be more effective.

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