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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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    • "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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