Journal of Genetic Counseling

, Volume 24, Issue 5, pp 842–850 | Cite as

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

  • Abhilasha Surampalli
  • Manaswitha Khare
  • Georgette Kubrussi
  • Marie Wencel
  • Jasmin Tanaja
  • Sandra Donkervoort
  • Kathryn Osann
  • Mariella Simon
  • Douglas Wallace
  • Charles Smith
  • Aideen M.McInerney-Leo
  • Virginia KimonisEmail author
Original Research


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.


Presymptomatic genetic testing Huntington’s disease Neurodegenerative Paget’s disease Hospital anxiety and depression scale 



Funding of this study is from the NIAMS, National Institutes of Health (RO1 AR050236), Muscular Dystrophy Association, Paget Foundation and the ICTS, University of California, Irvine. This work was also supported by the Muscular Dystrophy Association [Development grant to GW, JV] and NIH 1K01AR056002-01A2 trainee award [GW]. Aideen McInerney-Leo is supported by a University of Queensland graduate scholarship. We thank the individuals for their participation in this study and their health care providers for referring the patients to our study. We thank Mehrdad Zolekhian for technical assistance.

Conflict of Interest Statement

Abhilasha Surampalli, Manaswitha Khare, Georgette Kubrussi, Marie Wencel, Jasmin Tanaja, Sandra Donkervoort, Kathryn Osann, Mariella Simon, Douglas Wallace, Charles Smith, Aideen McInerney-Leo and Virginia Kimonis declare that they have no conflict of interest.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Supplementary material

10897_2015_9819_MOESM1_ESM.docx (13 kb)
ESM 1 (DOCX 12 kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2015

Authors and Affiliations

  • Abhilasha Surampalli
    • 1
  • Manaswitha Khare
    • 1
  • Georgette Kubrussi
    • 1
  • Marie Wencel
    • 1
  • Jasmin Tanaja
    • 1
  • Sandra Donkervoort
    • 1
  • Kathryn Osann
    • 2
  • Mariella Simon
    • 3
  • Douglas Wallace
    • 3
    • 6
  • Charles Smith
    • 4
  • Aideen M.McInerney-Leo
    • 5
  • Virginia Kimonis
    • 1
    Email author
  1. 1.Department of Pediatrics, Division of Genetics and Genomic MedicineUniversity of CaliforniaIrvineUSA
  2. 2.Division of Hematology/Oncology, Department of MedicineUniversity of CaliforniaIrvineUSA
  3. 3.Developmental and Cell BiologyUniversity of CaliforniaIrvineUSA
  4. 4.Department of Neurology and Sanders-Brown Center on AgingUniversity of KentuckyLexingtonUSA
  5. 5.The University of Queensland Diamantina Institute, Translational Research InstitutePrincess Alexandra HospitalWoolloongabbaAustralia
  6. 6.Center for Mitochondrial and Epigenomic Medicine; Department of Pathology and Laboratory MedicineChildren’s Hospital of PhiladelphiaPphiladelphiaUSA

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