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

Loading next page...
 
/lp/wiley/newborn-genetic-screening-for-spinal-muscular-atrophy-in-the-uk-the-fAIjAmQBHu
Publisher
Wiley Subscription Services, Inc., A Wiley Company
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

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve Freelancer

DeepDyve Pro

Price
FREE
$49/month

$360/year
Save searches from
Google Scholar,
PubMed
Create lists to
organize your research
Export lists, citations
Read DeepDyve articles
Abstract access only
Unlimited access to over
18 million full-text articles
Print
20 pages/month
PDF Discount
20% off