Discovering the Family History of Huntington Disease (HD)

Overview

Journal J Genet Couns

Publisher Wiley

Specialty Genetics

Date 2006 Mar 17

PMID 16541330

Citations 10

Authors

Holly Etchegary

Affiliations

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Abstract

A considerable body of research has explored both predictive genetic test decisions for Huntington disease (HD) and the impact of receiving a test result. Extant research reveals little, however, about how and when at risk persons first discover their family history of HD. Drawing upon 24 semi-structured interviews with at risk persons and their family members, this study explored initial discovery of HD in the family. Qualitative data analysis revealed four different, though sometimes related, trajectories of discovery: (1) something is wrong, (2) out of the blue, (3) knowing, but dismissing, and 4) growing up with HD. These pathways highlighted the importance of the temporal and historical contexts in which genetic risk for HD was discovered. Notably, ignorance about HD was the most salient feature shaping participants' narratives of discovery. Implications for research and clinical practice are discussed.

Citing Articles

Dilemmas when talking about Huntington's disease: A qualitative study of offspring and caregiver experiences in Norway.

Kjoelaas S, Jensen T, Feragen K J Genet Couns. 2022; 31(6):1349-1362.

PMID: 35903951 PMC: 10087240. DOI: 10.1002/jgc4.1610.

Searching for Answers: Information-Seeking by Young People At-Risk for Huntington's Disease.

Chase C, Yashar B, Swope C, Albin R, Uhlmann W J Huntingtons Dis. 2022; 11(3):337-346.

PMID: 35570496 PMC: 9484118. DOI: 10.3233/JHD-210523.

Role of older generations in the family's adjustment to Huntington disease.

Oliveira C, Mendes A, Sequeiros J, Sousa L J Community Genet. 2021; 12(3):469-477.

PMID: 33768463 PMC: 8241972. DOI: 10.1007/s12687-021-00523-6.

Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together.

Oliveira C, Mendes A, Sequeiros J, Sousa L Eur J Hum Genet. 2020; 28(9):1210-1217.

PMID: 32341469 PMC: 7608350. DOI: 10.1038/s41431-020-0630-z.

Ethics in genetic counselling.

Clarke A, Wallgren-Pettersson C J Community Genet. 2018; 10(1):3-33.

PMID: 29949066 PMC: 6325035. DOI: 10.1007/s12687-018-0371-7.

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