title: Predictive gene testing for Huntington disease and other neurodegenerative disorders.
abstract: BACKGROUND
  Controversies exist around predictive testing (PT) programmes in neurodegenerative disorders.
  
  
  OBJECTIVE
  This study sets out to answer the following questions relating to Huntington disease (HD) and other neurodegenerative disorders: differences between these patients in their PT journeys, why and when individuals withdraw from PT, and decision-making processes regarding reproductive genetic testing.
  
  
  METHODS
  A case series analysis of patients having PT from the multidisciplinary Western Australian centre for PT over the past 20 years was performed using internationally recognised guidelines for predictive gene testing in neurodegenerative disorders.
  
  
  RESULTS
  Of 740 at-risk patients, 518 applied for PT: 466 at risk of HD, 52 at risk of other neurodegenerative disorders - spinocerebellar ataxias, hereditary prion disease and familial Alzheimer disease. Thirteen percent withdrew from PT - 80.32% of withdrawals occurred during counselling stages. Major withdrawal reasons related to timing in the patients' lives or unknown as the patient did not disclose the reason. Thirty-eight HD individuals had reproductive genetic testing: 34 initiated prenatal testing (of which eight withdrew from the process) and four initiated pre-implantation genetic diagnosis. There was no recorded or other evidence of major psychological reactions or suicides during PT.
  
  
  CONCLUSIONS
  People withdrew from PT in relation to life stages and reasons that are unknown. Our findings emphasise the importance of: (i) adherence to internationally recommended guidelines for PT; (ii) the role of the multidisciplinary team in risk minimisation; and (iii) patient selection.
authors: Western Australian Department of Health, Neurosciences Unit, Perth, Western Australia, Australia.
authors: S
authors: S
authors: Wedderburn
authors: P K
authors: PK
authors: Panegyres
authors: S
authors: S
authors: Andrew
authors: J
authors: J
authors: Goldblatt
authors: T
authors: T
authors: Liebeck
authors: F
authors: F
authors: McGrath
authors: M
authors: M
authors: Wiltshire
authors: C
authors: C
authors: Pestell
authors: J
authors: J
authors: Lee
authors: J
authors: J
authors: Beilby
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003657:Decision Making; D005260:Female; D005820:Genetic Testing / Q000379:methods* / Q000592:standards*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D014904:Western Australia / Q000453:epidemiology; D055815:Young Adult
keywords: Huntington disease; neurodegenerative disorder; predictive gene testing