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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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November 2018 List
Text
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Citation List Month
November 2018 List
URL Address
<a href="http://doi.org/10.1002/mgg3.353" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/mgg3.353</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
Publisher
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Molecular genetics & genomic medicine
Date
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2018
Subject
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bloodspot;Ethics;Health Knowledge;newborn genetic screening;social implications;spinal muscular atrophy;Adolescent;Adult;Aged;Attitudes;Family;Female;Genetic Testing utilization;Humans;Infant;Internet;Male;Middle Aged;Muscular Atrophy;Neonatal Screening methods;Neuromuscular Diseases genetics;Newborn;Practice;Risk Assessment methods;Spinal diagnosis genetics;Surveys and Questionnaires;United Kingdom epidemiology
Creator
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Boardman FK;Sadler C;Young PJ
Description
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BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public. METHODS: An online survey was administered to 232 individuals with no prior relationship with SMA to assess their attitudes toward a newborn screening program for it. Results are compared with previously gathered data on the views of SMA-affected families toward screening. RESULTS: Eighty-four percent of participants were in favor of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision-making for future pregnancies. Key reasons for nonsupport were a belief in the potential for significant negative impact on the family unit in terms of bonding and stress. CONCLUSIONS: Public acceptability is a key component in the evaluation of any potential screening program in the UK. This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The importance of early identification overrode all other social and ethical concerns about screening for the majority of participants.
Identifier
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<a href="http://doi.org/10.1002/mgg3.353" target="_blank" rel="noreferrer noopener">10.1002/mgg3.353</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2018
Adolescent
Adult
Aged
Attitudes
bloodspot
Boardman FK
Ethics
Family
Female
Genetic Testing utilization
Health Knowledge
Humans
Infant
Internet
Male
Middle Aged
Molecular genetics & genomic medicine
Muscular Atrophy
Neonatal Screening methods
Neuromuscular Diseases genetics
Newborn
newborn genetic screening
November 2018 List
Practice
Risk Assessment methods
Sadler C
social implications
Spinal diagnosis genetics
Spinal Muscular Atrophy
Surveys And Questionnaires
United Kingdom epidemiology
Young PJ