Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

Department of Pediatrics, Duke University, Durham, North Carolina, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 6.44). 05/2008; 10(4):259-61. DOI: 10.1097/GIM.0b013e31816b64f9
Source: PubMed

ABSTRACT The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children provides guidance to reduce the morbidity and mortality associated with heritable disorders, with a special emphasis on those conditions detectable through newborn screening. Although long-term follow-up is necessary to maximize the benefit of diagnosis through newborn screening, such care is variable and inconsistent. To begin to improve long-term follow-up, the Advisory Committee has identified its key features, including the assurance and provision of quality chronic disease management, condition-specific treatment, and age-appropriate preventive care throughout the lifespan of affected individuals. There are four components central to achieving long-term follow-up: care coordination through a medical home, evidence-based treatment, continuous quality improvement, and new knowledge discovery.

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    • "The Children's Health Act of 2000 created an advisory committee within the U.S. Department of Health and Human Services to bring greater uniformity to the nation's NBS efforts [American Academy of Pediatrics , 2000]. A primary function of this committee, the Secretary's Advisory Committee on Heritable Diseases in Newborns and Children (SACHDNC), is to conduct evidence based reviews of proposed conditions to be added to a uniform NBS panel [Kemper et al., 2008]. When appropriate, the SACHDNC will recommend pilot studies to develop the evidence on which recommendations can be made. "
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    American Journal of Medical Genetics Part A 04/2013; 161(4). DOI:10.1002/ajmg.a.35756 · 2.05 Impact Factor
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    • "defined LTFU as, " … comprising assurance and provision of quality chronic disease management, conditionspecific treatment, and age-appropriate preventive care throughout the individual's lifespan. " The SACHDNC further acknowledged LTFU as necessary to maximize the benefit of NDBS diagnosis, expanding the concept from data management to systematic, comprehensive care of affected individuals (Kemper et al. 2008). "
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    ABSTRACT: State newborn screening programs are rapidly expanding with the inclusion of a large number of uncommon conditions. There remains significant uncertainty about many aspects of these conditions including their natural history, variability, treatment modalities being used, genotype-phenotype correlations, developmental outcomes, effect on families, and costs of care, among others. Data on these important outcome variables are not collected systematically through state programs. Recently, the American Academy of Pediatrics and the federal Health Resources and Services Administration have promoted the development of a data collection system on the long-term outcomes of children with conditions identified through newborn screening. This article provides an overview of the justification for such a system and recommendations for a design. Recommendations were developed through a multidisciplinary collaboration of regional and national scholars supported through a Health Resources and Services Administration funded project. We propose a registry system with data inputs from subspecialists, the Medical Home, families, and schools. Further, the proposed system would utilize emerging communication technology to provide an interactive web-based system to support families and professionals in their care of children with these complex conditions.
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