Predictive and pre-natal testing for Huntington disease in Australia: Results and challenges encountered during a 10-year period (1994-2003)

Clinical Genetics

Volumn 70, Issue 6, 2006, Pages 480-489

  Tassicker, R J ^a   Marshall, P K ^b   Liebeck, T A ^c   Keville, M A ^d   Singaram, B M ^d   Richards, Fiona H ^e  

^a Royal Children's Hospital   (United States)

^b LAUNCESTON GENERAL HOSPITAL   (Australia)

^c Neurosciences Unit   (Australia)

^d FLINDERS MEDICAL CENTRE   (Australia)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

10 years; Disease; Huntington; Pre natal testing; Predictive testing; Results

Indexed keywords

ARTICLE; AUSTRALIA; CLINICAL ARTICLE; CLINICAL PROTOCOL; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SUSCEPTIBILITY; HIGH RISK POPULATION; HUMAN; HUNTINGTON CHOREA; MEDICAL DECISION MAKING; MEDICAL RECORD REVIEW; PENETRANCE; PREDICTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT;

AUSTRALIA; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; HUNTINGTON DISEASE; PREDICTIVE VALUE OF TESTS; RETROSPECTIVE STUDIES;

EID: 33751006479     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00701.x     Document Type: Article

References (54)

1. Bates G, Harper PS, Jones L, eds. Huntington's disease. New York: Oxford University Press, 2002.
2. Sermon K, Goossens V, Seneca S et al. Preimplantation genetic diagnosis for Huntington's disease (HD): Clinical application and analysis of the HD expansion in affected embryos. Prenat Diagn 1998: 18: 1427-1436.
3. Sermon K, De Rijcke M, Lissens W et al. Preimplantation genetic diagnosis for Huntington's disease with exclusion testing. Eur J Hum Genet 2002: 10: 591-598.
4. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993: 72: 971-983.
5. American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. ACMG/ASHG statement: laboratory guidelines for Huntington disease genetic testing. Am J Hum Genet 1998: 62: 1243-1247.
6. Langbehn DR, Brinkman RR, Falush D et al. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 2004: 65: 267-277.
7. International Huntington Association and World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test for Huntington's disease. Neurology 1994: 44: 1533-1536.
8. Creighton S, Almqvist EW, MacGregor D et al. Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: The experience in Canada from 1987 to 2000. Clin Genet 2003: 63 (6): 462-475.
9. Evers-Kiebooms G, Welkenhuysen M, Claes E et al. The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: Implications for multidisciplinary counselling and for genetic education. Soc Sci Med 2000: 51(6): 831-841.
10. Richards F, Taylor SD. Social work and genetic testing: Ethical issues encountered in predictive testing for Huntington disease. Aust Soc Work 1997: 50(4): 61-67.
11. Taylor SD. Predictive genetic test decisions for Huntington's disease: context, appraisal and new moral imperatives. Soc Sci Med 2004: 58(1): 137-149.
12. Sobel S, Cowan DB. Impact of genetic testing for Huntington disease on the family system. Am J Med Genet 2000: 90: 49-59.
13. Cox SM, McKellin W. 'There's this thing in our family': Predictive testing and the construction of risk for Huntington disease. Sociol Health Illn 1999: 21(5): 622-646.
14. Taswell HF, Sholtes S. Predictive genetic testing: A story of one family. Fam Syst Health 1999: 17(1): 111-121.
15. Codori AM, Hanson R, Brandt J. Self-selection in predictive testing for Huntington's disease. Am J Med Genet 1994: 54: 167-173.
16. Timman R, Roos R, Maat-Kievit A, Tibben A. Adverse effects of predictive testing for Huntington disease underestimated: Long-term effects 7-10 years after the test. Health Psychol 2004: 23(2): 189-197.
17. Tassicker RJ. Psychodynamic theory and counseling in predictive testing for Huntington's disease. J Genet Couns 2005: 14(2): 99-107.
18. McGlennen RC, Allinson PS, Hagen VLM et al. Evidence of an unstable paternal 27 CAG repeat allele in a Huntington gene giving rise to clinically overt Huntington disease in a patient with the genotype (17/ 38). Am J Hum Genet 1995: 57: A246.
19. Chong SS, Almqvist E, Telenius H et al. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses. Hum Mol Genet 1997: 6(2): 301-309.
20. Potter NT, Spector EB, Prior TW. Technical standards and guidelines for Huntington disease testing. Genet Med 2004: 6(1): 61-65.
21. Human Genetics Society of Australasia. Guidelines for molecular diagnosis of Huntington disease 2001. Retrieved May 9, 2005, from http://www.hgsa.com.au
22. Tassicker R, Savulescu J, Skene L et al. Prenatal diagnosis requests for Huntington disease where the father is at-risk and does not want to know his genetic status: Clinical, legal and ethical viewpoints. BMJ 2003: 326: 331-333.
23. Pakenham KI, Goodwin VA, Macmillan JC. Adaptation to being at-risk for Huntington's disease and the availability of genetic testing: application of a stress and coping model. Psychol Health Med 2004: 9: 380-397.
24. DudokdeWit AC, Tibben A, Duivenvoorden HJ et al. Predicting adaptation to presymptomatic DNA testing for late onset disorders: Who will experience distress? J Med Genet 1998: 35: 745-754.
25. Almqvist EW, Bloch M, Brinkman R et al. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet 1999: 64: 1293-1304.
26. Almqvist EW, Brinkman RR, Wiggins S et al. Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. Clin Genet 2003: 64: 300-309.
27. Richards F, Williams K. Impact on couple relationships of predictive testing for Huntington disease: A longitudinal study. Am J Med Genet 2004: 126A: 161-169.
28. Richards F. Couples'experiences of predictive testing and living with the risk or reality of Huntington disease: A qualitative study. Am J Med Genet 2004: 126A: 170-182.
29. Taylor S. A case study of genetic discrimination: Social work and advocacy within a new context. Aust Soc Work 1998: 51(4): 51-57.
30. Hayden MR. Predictive testing for Huntington's disease: The calm after the storm. Lancet 2000: 356(9246): 1944-1945.
31. Barlow-Stewart K, Keays D. Genetic discrimination in Australia. J Law Med 2001: 8: 250-262.
32. Australian Law Reform Commission & Australian Health Ethics Committee of the National Health and Medical Research Council. Essentially yours: The protection of human genetic information in Australia. Sydney: Commonwealth of Australia, 2003.
33. Billings PR, Kohn MA, de Cuevas M et al. Discrimination as a consequence of genetic testing. Am J Hum Genet 1992: 50: 476-482.
34. Trembath MK, Tassicker R, Collins V, Mansie S, Sheffield L, Delatycki MB. Fifteen years experience of predictive testing for Huntington disease in a single centre in Victoria, Australia. Genet Med (in press).
35. Harper PS, Lim C, Craufurd D et al. Ten years of presymptomatic testing for Huntington's disease: The experience of the UK Huntington's Disease Prediction Consortium. J Med Genet 2000: 37: 567-571.
36. Maat-Kievit A, Vegter-van der Vlis M, Zoeteweij M et al. Paradox of a better test for Huntington's disease. J Neurol Neurosurg Psychiatry 2000: 69(5): 579-583.
37. Simpson SA, Harper PS. Prenatal testing for Huntington's disease: experience within the UK 1994-1998. J Med Genet 2001: 38: 333-335.
38. Simpson SA, Zoeteweij MW, Nys K et al. Prenatal testing for Huntington's disease: A European collaborative study. Eur J Hum Genet 2002: 10: 689-693.
39. Evers-Kiebooms G, Nuys K, Harper P et al. Predictive DNA-testing for Huntington's disease and reproductive decision making: A European collaborative study. Eur J Hum Genet 2002: 10(3): 167-176.
40. Van den Boer-van den Berg H, Maat-Kievit AA. The whole truth and nothing but the truth, but what is the truth? J Med Genet 2001: 38: 39-42.
41. Maat-Keivit A, Losekoot M, van den Boer-van den Berg H et al. New problems in testing for Huntington's disease: The issue of intermediate and reduced penetrance alleles. J Med Genet 2001: 38: 1-5.
42. Maat-Kievit A, Vegter-van der Vlis M, Zoeteweij M et al. Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997). Am J Med Genet (Neuropsychiatr Genet) 2000: 88: 662-668.
43. Benjamin CM, Lashwood A. United Kingdom experience with presymptomatic testing of individuals at 25% risk for Huntington's disease. Clin Genet 2000: 58: 41-49.
44. Lindblad AN. To test or not to test: An ethical conflict with presymptomatic testing of individuals at 25% risk for Huntington's disorder. Clin Genet 2001: 60: 442-446.
45. Chapman E. Ethical dilemmas in testing for late onset conditions: reactions to testing and perceived impact on other family members. J Genet Couns 2002: 11: 351-368.
46. Downing C. Negotiating responsibility: Case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease. J Genet Couns 2005: 14(3): 219-234.
47. Hallowell N. Doing the right thing: Genetic risk and responsibility. Sociol Health Illn 1999: 21(5): 597-621.
48. Decruyenaere M, Evers-Kiebooms G, Boogaerts A et al. Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet 1996: 33: 737-743.
49. Alper JS, Ard C, Asch A, Beckwith J, Conrad P, Geller LN, eds. The double-edged helix: Social implications of genetics in a diverse society. Baltimore: The John Hopkins University Press, 2002.
50. Hall MA, McEwan JE, Barton JC et al. Concerns in a primary care population about genetic discrimination by insurers. Genet Med 2005: 7(5): 311-316.
51. Knoppers BM, Joly Y. Physicians, genetics and life insurance. Can Med Assoc J 2004: 170(9): 1421-1424.
52. Centre for Genetics Education. Genetic information and life insurance products in Australia 2003. Retrieved June 1, 2005 from http://www.genetics.com.au/pdf/pubs/lifeinsurance.pdf
53. Investment and Financial Services of Australia (IFSA). Fact sheet life insurance and genetic testing in Australia. 2002 Retrieved May 30, 2005 from http://www.ifsa.com.au/public/content/ViewCategory.aspx?id=59
54. Lynch EL, Doherty RJ, Gaff, CL et al. 'Cancer in the family'and genetic testing: Implications for life insurance. Med J Aust 2003: 179(9): 480-483.