title: Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
abstract: Inclusion Body Myopathy associated with Paget's disease of bone and Fronto-temporal Dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations in Valosin containing protein (VCP) gene. This study aimed to assess uptake and decision making for predictive genetic testing and the impact on psychological well-being. Individuals who had participated in the gene discovery study with a 50 % a priori risk of inheriting VCP disease were sent a letter of invitation offering genetic counseling and testing and were also invited to participate in this psychosocial study. A total of 102 individuals received an invitation and 33 individuals participated in genetic counseling and testing (32.3 %) with 29 completing baseline questionnaires. Twenty completed the follow-up post-test Hospital Anxiety and Depression Scale questionnaire including 13 of the 18 who had tested positive. Mean risk perception at baseline was 50.1 %. Reasons for testing included planning for the future, relieving uncertainty, informing children and satisfying curiosity. At baseline, one quarter of the participants had high levels of anxiety. However, scores were normal one year following testing. In this small cohort, one third of individuals at 50 % risk chose pre-symptomatic testing. Although one quarter of those choosing testing had high anxiety at baseline, this was not evident at follow-up.
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.
authors.forename: Abhilasha
authors.initials: A
authors.lastname: Surampalli
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.
authors.forename: Manaswitha
authors.initials: M
authors.lastname: Khare
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.
authors.forename: Georgette
authors.initials: G
authors.lastname: Kubrussi
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.
authors.forename: Marie
authors.initials: M
authors.lastname: Wencel
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.
authors.forename: Jasmin
authors.initials: J
authors.lastname: Tanaja
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA.
authors.forename: Sandra
authors.initials: S
authors.lastname: Donkervoort
authors.affiliation: Division of Hematology/Oncology, Department of Medicine, University of California, Irvine, CA, 92697, USA.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Osann
authors.affiliation: Developmental and Cell Biology, University of California, Irvine, CA, 92697, USA.
authors.forename: Mariella
authors.initials: M
authors.lastname: Simon
authors.affiliation: Developmental and Cell Biology, University of California, Irvine, CA, 92697, USA.|Center for Mitochondrial and Epigenomic Medicine; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Pphiladelphia, PA, USA.
authors.forename: Douglas
authors.initials: D
authors.lastname: Wallace
authors.affiliation: Department of Neurology and Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY, USA.
authors.forename: Charles
authors.initials: C
authors.lastname: Smith
authors.affiliation: The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia.
authors.forename: Aideen
authors.initials: A
authors.lastname: M McInerney-Leo
authors.affiliation: Department of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, CA, 92697, USA. vkimonis@uci.edu.
authors.forename: Virginia
authors.initials: V
authors.lastname: Kimonis
mesh_terms: D000328:Adult; D001007:Anxiety / Q000523:psychology*; D015331:Cohort Studies; D005260:Female; D057180:Frontotemporal Dementia / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D005817:Genetic Counseling / Q000523:psychology*; D020022:Genetic Predisposition to Disease / Q000523:psychology; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D018979:Myositis, Inclusion Body / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D010001:Osteitis Deformans / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*
keywords: Hospital anxiety and depression scale; Huntington’s disease; Neurodegenerative; Paget’s disease; Presymptomatic genetic testing