Half a century of newborn screening in Spain: Evolution of ethical, legal and social issues (ELSIs). Part I, ethical issues
e202101008
Keywords:
Newborn screening, Blood spot screening, Genetic screening, Rare disease screening, Ethical issues in newborn screening, Public health ethics, Wilson-Jungner criteria, Ethical, legal and social issues (ELSIEs)Abstract
Newborn screening for treatable diseases began in Spain in 1968. During this half century important changes political, social and technologic have occurred. Present work divided in three parts analyzes the evolution of ethical, legal and social issues (ELSIs), respectively Part I, Part II and Part III.
Part I, ethical issues is aimed to the consideration of principles of biomedical and public health ethics applied to newborn screening programs in relationship with its technical characteristics which are very relevant for ethical deliberation: newborn screening is a genetic screening; only a small number of newborns suffers disease included in the program and therefore will receive benefits; screening applies to asymptomatic and vulnerable newborns that cannot exerts his/her autonomy and therefore must be protected; evaluation of results is challenging; as any public health intervention may have adverse consequences.
Chronological evolution states a first period 1968-2000 beginning with the principles of Wilson - Jungner, the first paper containing ethical principles that can be applied to newborn screening, introducing decision criteria and good practices in public health policies. A second period 2000-2010 markedly influenced by the emergency of tandem mass spectrometry that promotes a sudden expansion of programs and the consequent ethic debate, Wilson-Jungner principles are reviewed and appear relevant ethical documents in USA, Europe and also in Spain with the first’s papers on ethical recommendations for screening programs. A third period 2000-2019 examines the incorporation of new criteria in programs implementation and the continuous technological challenges with newborn genome sequencing already in the horizon.
It will be very important for the future of the newborn screening programs the development of ethical, legal and social issues in parallel with technological challenges. And that health authorities places diseases and not technologies as central subject, acting in children best interest, looking for a positive balance of benefits/risks and observing the relevant and well acknowledged principles for genetic screening of proportionality, respect for autonomy and justice.
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Copyright (c) 2021 Teresa Pàmpols Ros, Antonio Pérez Aytés, José Miguel García Sagredo, Aránzazu Díaz de Bustamante, Concepción Martín Arribas, Fernando José García López, Pilar Nicolás Jiménez, Elena Dulín Iñiguez, Mª Vicenta Labrador Cañadas
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