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
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.
Full-textDOI: · Available from: R Rodney Howell, Mar 12, 2014
- SourceAvailable from: Kathryn J Swoboda
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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. "
ABSTRACT: A population-based pilot study of newborns screening for a rare genetic condition, spinal muscular atrophy (SMA), is being conducted with funding from the National Institutes of Health. The first component of the study is to assess the ethical, legal, and social implications of population-based pilot studies with a focus on public engagement and parental decision-making for the proposed opt-out approach in this research. We conducted focus groups with members of the general public to ascertain attitudes about the pilot study and acceptability of an opt-out approach in two states, Colorado and Utah, where the pilot screening is being proposed (N = 70). We developed an informational video for the project and showed it to the groups prior to the discussion in order to inform participants about population-based research, newborn screening (NBS), permission/consent models, and SMA. Results indicated support for the conduct of pilot studies that is consistent with the current standard of practice for similar population-based programs. There was support for an opt-out approach for parental decision-making; however there was limited parental knowledge about population-based research, NBS and SMA. In general, our participants considered this pilot study to be low risk and of potential benefit to infants and families. The majority of participants were supportive of an opt-out approach with information delivered through various avenues © 2013 Wiley Periodicals, Inc.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). "
ABSTRACT: To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic clinics, most often by genetic counselors. Data from 69 endocrinology patients indicated infrequent referrals for genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.Journal of community genetics 12/2011; 2(4):191-200. DOI:10.1007/s12687-011-0055-z
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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.Genetics in medicine: official journal of the American College of Medical Genetics 04/2009; 11(3):176-82. DOI:10.1097/GIM.0b013e318193ff0d · 6.44 Impact Factor