Journal of Genetic Counseling

, Volume 27, Issue 4, pp 947–954 | Cite as

The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life

  • Petra E. Cohn-Hokke
  • John C. van Swieten
  • Yolande A. L. Pijnenburg
  • Aad Tibben
  • Hanne Meijers-Heijboer
  • Anneke KievitEmail author
Original Research


Follow-up studies on predictive testing for hereditary neurodegenerative diseases mainly focussed on psychological outcomes. We investigated whether the social and personal life of mutation carriers differ negatively from non-carriers and untested at-risk individuals. Asymptomatic individuals (≥ 35 years) who received a genetic test result for Huntington’s disease, frontotemporal dementia or Alzheimer’s disease more than 2 years before the onset of the study and untested subjects at 50% risk were invited to complete a questionnaire and an additional questionnaire with extra or adjusted items. Of the 283 selected individuals, 115 returned a positive informed consent (response rate 39.6%). Of these, 17 carriers, 30 non-carriers and 27 untested persons (n = 74) fulfilled the criteria and completed both questionnaires. We found no significant differences in employment, financial situation and lifestyle or anxiety and depression between carriers and non-carriers or untested individuals at risk. Carriers were more often single and childless, though these differences were not significant. The findings of this study suggest that the result of predictive testing on adult-onset neurodegenerative diseases does not have a large negative effect on social and personal life, although these observations should be interpreted with caution because of the small number of participants and low response rate.


Dementia Frontotemporal dementia Genetic testing Huntington’s disease Neurodegenerative disease Socioeconomic factors 



We thank Reinier Timman and Lidewij Henneman for their advice on the design of the study and the questionnaires. This work was conducted to fulfill a degree requirement.

Compliance with Ethical Standards

Conflicts of Interest

PC, JvS, YP, AT, HM and AK declare that they have no conflict of interest.

Human Studies and Informed Consent

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 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animals have been used in this study.


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Copyright information

© National Society of Genetic Counselors, Inc. 2017

Authors and Affiliations

  • Petra E. Cohn-Hokke
    • 1
  • John C. van Swieten
    • 1
    • 2
    • 3
  • Yolande A. L. Pijnenburg
    • 2
  • Aad Tibben
    • 4
  • Hanne Meijers-Heijboer
    • 1
  • Anneke Kievit
    • 5
    Email author
  1. 1.Department of Clinical GeneticsVU University Medical CenterAmsterdamThe Netherlands
  2. 2.Alzheimer Center, Department of NeurologyVU University Medical CenterAmsterdamThe Netherlands
  3. 3.Department of NeurologyErasmus Medical CenterRotterdamThe Netherlands
  4. 4.Department of Clinical GeneticsLeiden University Medical CenterLeidenThe Netherlands
  5. 5.Department of Clinical Genetics, Erasmus Medical CenterRotterdamThe Netherlands

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