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LSDs:A Pilot NBS and Examination of the Associated Ethical Legal & Social Issues

LSD:试点国家统计局和相关道德法律审查

基本信息

批准号：
8350338
负责人：
Melissa Pittel Wasserstein
金额：
$ 63.15万
依托单位：
ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
依托单位国家：
美国
项目类别：
财政年份：
2012
资助国家：
美国
起止时间：
2012-09-04 至 2017-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8350338
关键词：
Adopted Adult Age of Onset Algorithms Anxiety Biochemical Biological Assay Birth Rate Blood Clinical Complex Data Databases Development Diagnosis Diagnostic Disease Educational workshop Ethical Issues Ethics Evaluation Fabry Disease Familiarity Family Gaucher Disease Globoid cell leukodystrophy Glycogen storage disease type II Goals Hematopoietic Stem Cell Transplantation Heterogeneity Incidence Infant Informatics Interview Investigation Laboratories Late-Onset Disorder Legal Length Long-Term Effects Longevity Longitudinal Studies Lysosomal Storage Diseases Medical Medical Ethics Medical center Mental Depression Metabolic Diseases Methods Modeling Monitor Mutation Natural History Neonatal Screening New York New York City Newborn Infant Niemann-Pick Diseases Onset of illness Parents Patients Performance Phenotype Policies Population Heterogeneity Psychological Impact Psychosocial Influences Publishing Questionnaires Rare Diseases Reaction Recommendation Recruitment Activity Research Research Infrastructure Research Personnel Risk Safety Screening procedure Signs and Symptoms Spottings Stress Structure Sum Testing Translational Research Treatment Cost Treatment Efficacy Urban Hospitals base biobank clinical decision-making diagnostic accuracy disease natural history economic impact ethical legal social implication evidence base experience follow-up infancy interest international center late disease onset novel premature programs prospective psychologic socioeconomics symposium treatment center

项目摘要

DESCRIPTION (provided by applicant): PROJECT SUMMARY Newborn screening for Fabry, Gaucher, Niemann Pick Types A and B, and Pompe diseases has been proposed in several states, including New York. Each of these lysosomal storage diseases (LSD) has a broad phenotypic spectrum ranging from severe infantile-onset disease to adult-onset, milder phenotypes. Thus, newborn screening for these disorders presents a unique set of complex issues that require investigation prior to the initiatio of mass newborn screening. These issues include determining the clinical and diagnostic accuracy of the screening assay, investigating how to correctly predict phenotype in asymptomatic newborns, and developing algorithms to assist with clinical decision-making about if and when to initiate therapy. In addition, there are novel ethical, legal, and social issus associated with testing infants for potentially later-onset disorders. This proposal will explore these issues by implementing a pilot newborn screen in conjunction with the New York State Newborn Screening Program to evaluate the analytic and clinical validity of the screening test and to determine disease incidence in an ethnically diverse population. Screening data will be shared with the Newborn Screening Translational Research Network (NBSTRN). All identified infants will be followed by LSD experts at The Mount Sinai Medical Center for diagnostic evaluation, monitoring, and treatment. Natural history data generated from this research and from existing disease-specific clinical databases will also be shared with the NBSTRN, with the goal of developing models to predict age of onset of disease over the lifespan in order to optimize treatment and avoid premature use of costly therapies. The psychological aspects of screening for the LSDs will also be explored, focusing on whether screening for later-onset disorders has harmful short or longer term effects. The psychological impact will be assessed using questionnaires and interviews to evaluate the reactions of parents whose infants are at risk to develop infantile versus later-onset disease. We will also initiate an analysis of the economic impact of a positive diagnosis on families by analyzing monitoring and treatment costs as well as potential difficulties with insurability. Based on these results, an ethics panel will b convened to discuss the particular concerns, including potential harms, that are associated with testing for these disorders, and we will then use this information as the basis for formulating policy recommendations on newborn screening for LSDs in general, and later onset diseases in particular. In addition, a symposium will be held to discuss the extent and length of medicolegal responsibility of the medical team involved in the newborn screening of a patient with adult onset disease. In sum, these studies should result in the development of evidence-based, ethically-sensitive, newborn screening and long-term follow up policies that will have considerable influence as newborn screening for the LSDs becomes widely adopted. PUBLIC HEALTH RELEVANCE: PROJECT NARRATIVE We will conduct a pilot newborn screening for Fabry, Gaucher, Niemann-Pick Types A and B, and Pompe diseases in approximately 80,000 infants born in high birth rate, ethnically diverse New York City hospitals in order to validate the screening assay and to define the natural history of these disorders. Prospective clinical, laboratory, and radiographic data will be collected and analyzed in order to develop evidence-based algorithms for the diagnosis and treatment of these rare disorders. In addition, the unique ethical, legal, an psychosocial issues that are associated with screening for these disorders will be explored.

描述（由申请人提供）：