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Mol Genet Metab. 2014 Feb;111(2):197-202. doi: 10.1016/j.ymgme.2013.10.017. Epub 2013 Nov 4.

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

Author information

1
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: heather_adams@urmc.rochester.edu.
2
University of Rochester, School of Medicine, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: katherine_rose@urmc.rochester.edu.
3
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: erika_augustine@urmc.rochester.edu.
4
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: jennifer_kwon@urmc.rochester.edu.
5
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA; University of Rochester, Clinical Trials Coordination Center, 265 Crittenden Boulevard, Rochester, NY 14620, USA. Electronic address: Lisa.DeBlieck@chet.rochester.edu.
6
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA; University of Rochester, Clinical Trials Coordination Center, 265 Crittenden Boulevard, Rochester, NY 14620, USA. Electronic address: Frederick_Marshall@urmc.rochester.edu.
7
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: amy_vierhile@urmc.rochester.edu.
8
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: jonathan_mink@urmc.rochester.edu.
9
Struthers Parkinson's Center, 6701 Country Club Drive, Golden Valley, MN 55427, USA. Electronic address: martha.nance@parknicollet.com.

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.

KEYWORDS:

AAP/ACMG; American Academy of Pediatrics/American College of Medical Genetics; BDSRA; Batten Disease Support and Research Association; Child; DTC; Direct to Consumer; FAP; Familial adenomatous polyposis; GINA; GTIC; Genetic Information Non Discrimination Act; Genetic testing; Genetic testing in children; HD; Huntington disease; NCL; Neurologic disease/disorder; Neuronal ceroid lipofuscinosis; Parental attitudes; RSRB; Research Subjects Review Board; URBC; University of Rochester Batten Center

PMID:
24246680
PMCID:
PMC3919022
DOI:
10.1016/j.ymgme.2013.10.017
[Indexed for MEDLINE]
Free PMC Article
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