Factors related to genetic testing in adults at risk for Huntington disease

the prospective Huntington at-risk observational study (PHAROS)

K. A. Quaid, S. W. Eberly, E. Kayson-Rubin, D. Oakes, I. Shoulson, on behalf of the Huntington Study Group PHAROS Investigators and Coordinators

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a cytosine–adenine–guanine (CAG) triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study of 1001 individuals at risk for HD who had not been previously tested for HD and who had no plans to do so. In this cohort, 104 (10%) individuals changed their minds and chose to be tested during the course of the study but outside of the study protocol. Baseline behavioral scores, especially apathy, were more strongly associated with later genetic testing than motor and chorea scores, particularly among subjects with expanded CAG repeat length. In the CAG expanded group, those choosing to be tested were older and had more chorea and higher scores on the behavioral section of the unified Huntington's disease rating scale at baseline than those not choosing to be tested. Following genetic testing, 56% of subjects with CAG < 37 had less depression when compared to prior to testing, but depression generally stayed the same or increased for 64% of subjects in the expanded group. This finding suggests that approaches to testing must continue to be cautious, with appropriate medical, psychological and social support.

Original languageEnglish (US)
Pages (from-to)824-831
Number of pages8
JournalClinical Genetics
Volume91
Issue number6
DOIs
StatePublished - Jun 1 2017

Fingerprint

Huntington Disease
Genetic Testing
Observational Studies
Chorea
Depression
Trinucleotide Repeats
Apathy
Social Support
Neurodegenerative Diseases
Psychology
Genes

Keywords

  • genetic testing
  • Huntington disease
  • observational trial

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Quaid, K. A., Eberly, S. W., Kayson-Rubin, E., Oakes, D., Shoulson, I., & on behalf of the Huntington Study Group PHAROS Investigators and Coordinators (2017). Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS). Clinical Genetics, 91(6), 824-831. https://doi.org/10.1111/cge.12893

Factors related to genetic testing in adults at risk for Huntington disease : the prospective Huntington at-risk observational study (PHAROS). / Quaid, K. A.; Eberly, S. W.; Kayson-Rubin, E.; Oakes, D.; Shoulson, I.; on behalf of the Huntington Study Group PHAROS Investigators and Coordinators.

In: Clinical Genetics, Vol. 91, No. 6, 01.06.2017, p. 824-831.

Research output: Contribution to journalArticle

Quaid, KA, Eberly, SW, Kayson-Rubin, E, Oakes, D, Shoulson, I & on behalf of the Huntington Study Group PHAROS Investigators and Coordinators 2017, 'Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS)', Clinical Genetics, vol. 91, no. 6, pp. 824-831. https://doi.org/10.1111/cge.12893
Quaid KA, Eberly SW, Kayson-Rubin E, Oakes D, Shoulson I, on behalf of the Huntington Study Group PHAROS Investigators and Coordinators. Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at-risk observational study (PHAROS). Clinical Genetics. 2017 Jun 1;91(6):824-831. https://doi.org/10.1111/cge.12893
Quaid, K. A. ; Eberly, S. W. ; Kayson-Rubin, E. ; Oakes, D. ; Shoulson, I. ; on behalf of the Huntington Study Group PHAROS Investigators and Coordinators. / Factors related to genetic testing in adults at risk for Huntington disease : the prospective Huntington at-risk observational study (PHAROS). In: Clinical Genetics. 2017 ; Vol. 91, No. 6. pp. 824-831.
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