Experience, knowledge, and opinions about childhood genetic testing in Batten disease.
OBJECTIVE
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.
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: heather_adams@urmc.rochester.edu.
Heather R
HR
Adams
University of Rochester, School of Medicine, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: katherine_rose@urmc.rochester.edu.
Katherine
K
Rose
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: erika_augustine@urmc.rochester.edu.
Erika F
EF
Augustine
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: jennifer_kwon@urmc.rochester.edu.
Jennifer M
JM
Kwon
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.
Elisabeth A
EA
deBlieck
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.
Frederick J
FJ
Marshall
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: amy_vierhile@urmc.rochester.edu.
Amy
A
Vierhile
University of Rochester, Department of Neurology (Child Neurology), Box 631, 601 Elmwood Avenue, Rochester, NY 14642, USA. Electronic address: jonathan_mink@urmc.rochester.edu.
Jonathan W
JW
Mink
Struthers Parkinson's Center, 6701 Country Club Drive, Golden Valley, MN 55427, USA. Electronic address: martha.nance@parknicollet.com.
Martha A
MA
Nance
D000328:Adult; D002648:Child; D042241:Early Diagnosis; D005260:Female; D005817:Genetic Counseling / Q000941:ethics; D005820:Genetic Testing / Q000941:ethics*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D010290:Parents / Q000193:education / Q000523:psychology*
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