Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population

Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population INTRODUCTIONWith the development of technologies such as whole genome sequencing, population screening for increasing numbers of genetic disorders is now more feasible than ever before. While many of the genetic disorders for which screening could be introduced are considered rare, most have limited treatment options, a substantial impact on quality of life and unpredictable/variable trajectories (Rose, ). Genetic screening for such conditions, it has been argued, would allow carrier parents the option of avoiding the birth of an affected child (when carried out preconceptually or prenatally), or the timely introduction of therapies or clinical trial enrollment (when carried out on newborns). As well as earlier identification, newborn genetic screening is also associated with what has been termed ‘reproductive benefit’ (Bombard et al., ). That is, through their identification as carriers, parents (as well as their wider family) will be able to make informed decisions in relation to any subsequent pregnancies (Botkin & Rothwell, ). Moreover, some newborn genetic screening programs, for example, that for cystic fibrosis in the UK, are capable of not only identifying infants who have (or will develop) cystic fibrosis, but also those infants who are genetic carriers. Thus, the “reproductive benefit” of newborn screening may potentially http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics & Genomic Medicine Wiley

Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population

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Publisher
Wiley
Copyright
Copyright © 2018 John Wiley & Sons Ltd.
ISSN
2324-9269
eISSN
2324-9269
D.O.I.
10.1002/mgg3.353
Publisher site
See Article on Publisher Site

Abstract

INTRODUCTIONWith the development of technologies such as whole genome sequencing, population screening for increasing numbers of genetic disorders is now more feasible than ever before. While many of the genetic disorders for which screening could be introduced are considered rare, most have limited treatment options, a substantial impact on quality of life and unpredictable/variable trajectories (Rose, ). Genetic screening for such conditions, it has been argued, would allow carrier parents the option of avoiding the birth of an affected child (when carried out preconceptually or prenatally), or the timely introduction of therapies or clinical trial enrollment (when carried out on newborns). As well as earlier identification, newborn genetic screening is also associated with what has been termed ‘reproductive benefit’ (Bombard et al., ). That is, through their identification as carriers, parents (as well as their wider family) will be able to make informed decisions in relation to any subsequent pregnancies (Botkin & Rothwell, ). Moreover, some newborn genetic screening programs, for example, that for cystic fibrosis in the UK, are capable of not only identifying infants who have (or will develop) cystic fibrosis, but also those infants who are genetic carriers. Thus, the “reproductive benefit” of newborn screening may potentially

Journal

Molecular Genetics & Genomic MedicineWiley

Published: Jan 1, 2018

Keywords: ; ; ; ;

References

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