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Newborn Screening as the Model for Interoperable Genetic Data

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Zuckerman AE, Downs SM, McDonald CJ, Weisman JL, Ross DA
AMIA Annu Symp Proc. 2010
Abstract: 

Each year over 4 million infants undergo mandated Newborn Screening to identify a wide range of genetic disorders. The Newborn Screening Use Case is introducing standards for interoperability to this important and challenging juncture of inpatient, public health and ambulatory practice settings. Special coding and terminology issues for these rare disorders have led to development of new LOINC codes and integration of work of the Personalized Healthcare Workgroup into the NLM UMLS. The birth of a new infant is an ideal time for families to provide interoperable family health histories collected using the Internet based Surr 4 million infants undergo mandated Newborn Screening to identify a wide range of genetic disorders. The Newborn Screening Use Case is introducing standards for interoperability to this important and challenging juncture of inpatient, public health and ambulatory practice settings. Special coding and terminology issues for these rare disorders have led to development of new LOINC codes and integration of work of the Personalized Healthcare Workgroup into the NLM UMLS. The birth of a new infant is an ideal time for families to provide interoperable family health histories collected using the Internet based Surgeon General's Family Health Portrait Tool that can be incorporated into a lifetime child health record beginning at the time of newborn hospital discharge. Privacy issues surrounding the transmission of genetic data must be addressed and the policy implications for newborn screening of the Genetic Information Nondiscrimination Act of 2008 (GINA) as well as HIPAA, CLIA, ands state laws will be discussed. Effective newborn screening requires sharing of results with non-ordering providers and sharing results across state lines. Research uses of newborn screening are fundamental to population health improvement through program evaluation and gathering evidence about effective approaches to newborn screening and assessment of outcomes.

Zuckerman AE, Downs SM, McDonald CJ, Weisman JL, Ross DA. Newborn Screening as the Model for Interoperable Genetic Data AMIA Annu Symp Proc. 2010