dc.creatorMcCabe, Linda L.
dc.creatorMcCabe, Edward R.B.
dc.date.accessioned2014-08-06T17:31:39Z
dc.date.accessioned2022-11-09T15:00:45Z
dc.date.available2014-08-06T17:31:39Z
dc.date.available2022-11-09T15:00:45Z
dc.date.created2014-08-06T17:31:39Z
dc.date.issued2002
dc.identifierhttp://repositorio.ub.edu.ar/handle/123456789/2872
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/5168070
dc.description.abstractThe incorporation of newborn screening into the states’ departments of public health represented the formal initiation of population-based predictive medi-cine with the goal of prevention of morbidityand mortalityfrom genetic disease. Starting with a meth-odologybased on microbiology, the bacterial inhibition assay[1], the field has incorporated far more advanced technologies such as molecular genetic analyses [2–7] and tandem mass spectrometry(MS/MS) [8–12]. Pre-diction and prevention are fundamental to public health and genomic medicine. Effective integration of screening across the lifespan for genetic predisposition and disease will require utilization of advanced technologies and information systems, and incorporation of appropriate safeguards to protect autonomy, privacy and confiden-tiality. As newborn screening testing menus expand and population-based genetic screening extends through adulthood, pilot programs must be developed and evaluated to determine their abilityto achieve the goals and objectives for which theyare designed [13]. Such pilot programs will require careful design, not onlyto assess the technological bases of these systems, but also to evaluate their impact on the individuals tested. De-termination of impact must include not onlytraditional effectiveness measures such as changes in morbidityand mortalityfrom disease, but also the ethical, legal and social implications of testing such as genetic discrimi-nation [14–18]. Design and implementation of genetic screening programs will require broad-based expertise. In addition to the traditional membership on screening program advisorycommittees, such as medical specialists and subspecialists, laboratorians, and public health and government officials, these groups must represent all stakeholders [13]. Affected individuals and their family members have the best-informed experience with the process and consequences of screening, and theyshould be incorporated as full and equal members.
dc.languageen
dc.publisherUniversidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
dc.relationMolecular Genetics and Metabolism 75;year 2002 - 299–307
dc.subjectNewborn screening
dc.subjectpopulation screening
dc.subjectpublic health
dc.subjectevaluación del recién nacido
dc.subjectcribado de la población
dc.subjectsalud pública
dc.titleNewborn screening as a model for population screening
dc.typeArtículos de revistas


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