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Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia
Author(s) -
Surampalli Abhilasha,
Khare Manaswitha,
Kubrussi Georgette,
Wencel Marie,
Tanaja Jasmin,
Donkervoort Sandra,
Osann Kathryn,
Simon Mariella,
Wallace Douglas,
Smith Charles,
M.McInerneyLeo Aideen,
Kimonis Virginia
Publication year - 2015
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-015-9819-7
Subject(s) - medicine , genetic testing , genetic counseling , psychosocial , disease , anxiety , frontotemporal dementia , dementia , depression (economics) , clinical psychology , cohort , psychiatry , genetics , biology , macroeconomics , economics
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.