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Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

Abstract：

BACKGROUND AND OBJECTIVES:Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these issues and determine their experiences and knowledge related to genetic testing for Batten disease - a set of inherited neurodegenerative diseases of childhood onset for which no disease modifying therapies yet exist. METHODS:Parents of children with Batten disease completed a survey of their knowledge of genetics, experience with genetic testing, and opinions regarding GTIC. RESULTS:54% had sought genetic testing for non-affected family members, including predictive diagnosis of healthy, at-risk children. Participation in any genetic counseling was associated with greater knowledge on questions about genetics. The majority of parents felt it was better to know ahead of time that a child would develop Batten disease, believed that this knowledge would not alter how they related to their child, and that parents should have the final say in deciding whether to obtain GTIC. CONCLUSIONS:Parents of children with an inherited disease are knowledgeable about genetics and wish to establish predictive or carrier status of at-risk children.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Adams HR,Rose K,Augustine EF,Kwon JM,deBlieck EA,Marshall FJ,Vierhile A,Mink JW,Nance MA

doi

10.1016/j.ymgme.2013.10.017

subject

Has Abstract

pub_date

2014-02-01 00:00:00

pages

197-202

issue

2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(13)00365-X

journal_volume

111

pub_type

杂志文章

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