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Baby genome screening: paving the way to genetic discrimination?

BMJ 2017; 358 doi: https://doi.org/10.1136/bmj.j3294 (Published 20 July 2017) Cite this as: BMJ 2017;358:j3294
  1. Markus G Seidel
  1. Department of Paediatrics and Adolescent Medicine, Medical University Graz, Austria
  1. markus.seidel{at}medunigraz.at

Population-wide newborn whole genome screening could lead to next generation eugenics

Newborn screening programmes for a set of disease biomarkers are mandatory in many countries of the world in order to detect inborn errors early on and to avoid disabilities in, or the premature death of, otherwise healthy babies. The conditions selected for newborn screening depend on defined criteria that include incidence, morbidity and mortality, the improvement of the prognosis upon early detection and treatment, the difficulty of detection at birth during a routine physical examination, and the existence of both a sensitive, specific, and cost effective test.12 Next generation sequencing tools, including whole exome or whole genome sequencing (WES or WGS), are able to detect genetic diseases, such as primary immunodeficiencies, rapidly,34 but diagnostic workup is usually only initiated when symptoms appear or index cases are identified in the patient’s family. …

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