Newborn screening by tandem mass spectrometry: ethical and social issues. 2007

Denise Avard, and Hilary Vallance, and Cheryl Greenberg, and Beth Potter
Centre de recherche en droit public, Université de Montréal, C.P. 6128, succ. Centre-ville, Montreal, QC H3C 3J7. denise.avard@umontreal.ca

Emerging technologies like Tandem Mass Spectrometry (TMS) enable multiple tests on a single blood sample and allow the expansion of Newborn Screening (NBS) to include various metabolic diseases. Introducing TMS for NBS raises important social and ethical questions: what are the criteria for adding disorders to screening panels? What evidence justifies expansion of screening? How can equity in NBS access and standards be ensured? How can policy standards be set, given the multiplicity of stakeholders? To address emerging issues, policy-makers, patient advocates, clinicians and researchers had a workshop during the 2005 Garrod Symposium. The participants received a summary of the discussion and understood the workshop's goal was to provide a basis for further discussion. This article contributes to this ongoing discussion. Several proposed recommendations assert the centrality of including social and ethical issues in the assessment of whether or not to introduce TMS. The article outlines five key recommendations for advancing the NBS agenda: national public health leadership; transparency; increased national consistency in NBS strategy, including minimum standards; collaboration between the federal and provincial/territorial governments and diverse stakeholders; and supporting research and/or programs based on effectiveness, which integrate ethical and social issues into assessment.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D009313 National Health Programs Components of a national health care system which administer specific services, e.g., national health insurance. National Health Insurance, Non-U.S.,Health Services, National,National Health Insurance,National Health Insurance, Non U.S.,National Health Services,Services, National Health,Health Insurance, National,Health Program, National,Health Programs, National,Health Service, National,Insurance, National Health,National Health Program,National Health Service,Program, National Health,Programs, National Health,Service, National Health
D002170 Canada The largest country in North America, comprising 10 provinces and three territories. Its capital is Ottawa.
D006291 Health Policy Decisions, usually developed by government policymakers, for determining present and future objectives pertaining to the health care system. Health Care Policies,Health Policies,Healthcare Policy,National Health Policy,Care Policies, Health,Health Care Policy,Health Policy, National,Healthcare Policies,National Health Policies,Policies, Health,Policies, Health Care,Policies, Healthcare,Policy, Health,Policy, Health Care,Policy, Healthcare
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012935 Social Justice An interactive process whereby members of a community are concerned for the equality and rights of all. Food Justice,Common Good,Justice,Obligations of Society,Good, Common,Justice, Food,Justice, Social
D015997 Neonatal Screening The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant
D053719 Tandem Mass Spectrometry A mass spectrometry technique using two (MS/MS) or more mass analyzers. With two in tandem, the precursor ions are mass-selected by a first mass analyzer, and focused into a collision region where they are then fragmented into product ions which are then characterized by a second mass analyzer. A variety of techniques are used to separate the compounds, ionize them, and introduce them to the first mass analyzer. For example, for in GC-MS/MS, GAS CHROMATOGRAPHY-MASS SPECTROMETRY is involved in separating relatively small compounds by GAS CHROMATOGRAPHY prior to injecting them into an ionization chamber for the mass selection. Mass Spectrometry-Mass Spectrometry,Mass Spectrometry Mass Spectrometry,Mass Spectrometry, Tandem

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