Predictive genetic testing in Huntington's disease: should a neurologist be involved?

Mayke Oosterloo*, Emilia K. Bijlsma, Corien C. Verschuuren-Bemelmans, Meyke Schouten, Christine de Die-Smulders, Raymund A. C. Roos

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Web of Science)

Abstract

International guidelines on Huntington's Disease recommend neurological examination in the predictive testing trajectory. Experiences and personal wishes of persons at risk of Huntington's Disease regarding this topic have never been evaluated. The objective was to provide an overview of the experiences of Dutch at-risk persons, opting for predictive testing, in consulting a neurologist before and after DNA analysis. Persons who were counseled in four Dutch clinics between 2017 and 2019 were retrospectively or prospectively approached for a questionnaire which listed topics as experiences with consultation and personal wishes. From 71 participants, 44 participants visited a neurologist. 41 participants indicated their visit to a neurologist as positive (93.2%). The majority of participants (n = 59) desired consulting a neurologist. Thirty-two participants indicated consultation shortly after (Desired After Group) and twenty-seven before DNA analysis (Desired Before Group) as personal wish. The Desired Before Group consisted of a significantly higher number of participants who actually consulted a neurologist before predictive testing (n = 26) compared with the number of participants who actually consulted a neurologist after DNA analysis in the Desired After Group (n = 11) (p <0.001). The Desired After Group (n = 19) had a significantly higher number of Huntington's disease gene expansion carriers compared with the Desired Before Group (n = 5) (p 0.003). Participants are content with consultation. However, persons without the gene expansion still feel the need to get in touch with a neurologist. Therefore, offering a consultation with a neurologist before DNA analysis might be beneficial for all.

Original languageEnglish
Pages (from-to)1205-1209
Number of pages5
JournalEuropean Journal of Human Genetics
Volume28
Issue number9
DOIs
Publication statusPublished - Sep 2020

Keywords

  • TRACK-HD
  • PREMANIFEST
  • CARRIERS

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