Predictive testing for Huntington's disease: II. Qualitative findings from a study of uptake in South Wales

• Published in: Clinical genetics Vol. 54; no. 6; pp. 489 - 496
• Main Authors: Binedell, Julia, Soldan, Jo R, Harper, Peter S
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.12.1998; Blackwell
• Subjects: Adult; Biological and medical sciences; Communication; coping; Decision Making; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Health Knowledge, Attitudes, Practice; Humans; Huntington Disease - psychology; Huntington's disease; Male; Medical sciences; Neurology; predictive testing; Predictive Value of Tests; risk; Risk Factors; Wales; United Kingdom; Great Britain; Europe; Wales; Human; Nervous system diseases; Decision making; Psychology; Huntington disease; Risk; Medical screening; Cerebral disorder; Genetic disease; Motivation; Central nervous system disease; Perception; Degenerative disease; Diagnosis; Extrapyramidal syndrome
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.1998.tb03769.x

Semi‐structured interviews were conducted with a cohort of 22 test applicants who requested Huntington's disease (HD) predictive testing in South Wales, and a random sample of 32 non‐requesters, drawn from the South Wales HD register. Apart from identifying differences between the groups, the study afforded the opportunity to listen, at length, to at‐risk individuals' accounts of living at risk and their thoughts about predictive testing and genetic services. Emergent themes included difficulties in family communication and the uncertainties inherent in being at risk and undergoing testing. Important factors in decision making about testing were: moral imperatives to clarify one's genetic status; views about the controllability of the future; family attitudes and norms; and the impact of a test result on family members. At‐risk individuals' perceptions of the genetics service were that contact with the service would result in pressure to be tested and a need for test applicants to present a favourable view of coping capacities to secure testing. In addition, there was an expectation of ongoing contact with HD families at the initiative of the service providers. Implications of the findings for the way in which predictive testing services are structured and introduced to the at‐risk population are discussed.