Skip to main content

In 10 years from now when we go for our driver’s licence, could we be asked to provide a quick cheek brush sample so that our DNA can be analysed to look for some important variations? For example, a variation in a gene that causes hypertrophic cardiomyopathy (HCM) that is associated with heart attack and sudden death.1,2 This has obvious and serious implications if a person is driving. If you do have this variation and are considered to be at high risk, it is possible to be fitted with a tiny monitor under your skin that can detect such an attack before it happens.3 Perhaps in future a person with the HCM gene variant who is considered to be at high risk will only be granted a driver’s licence on the condition that such a device is fitted.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Notes

  1. Marian, A. J. and Roberts, R. 1995. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 92: 1336–1347.

    CAS  PubMed  Google Scholar 

  2. Ly, H. Q., Greiss, I., Talakic, M., Guerra, P. G., Macle, L., Thibault, B., Dubuc, M., and Roy, D. 2005. Sudden death and hypertrophic cardiomyopathy: a review. Canadian Journal of Cardiology 21: 441–448.

    PubMed  Google Scholar 

  3. Crespo, E. M., Kim, J., and Selzman, K. A. 2005. The use of implantable cardioverter defibrillators for the prevention of sudden cardiac death: a review of the evidence and implications. American Journal of the Medical Sciences 329: 238–246.

    Article  PubMed  Google Scholar 

  4. Nestler, E. J. 2001. Psychogenomics: opportunities for understanding addiction. The Journal of Neuroscience 21: 8324–8327.

    CAS  PubMed  Google Scholar 

  5. Nestler, E. J. 2004. Molecular mechanisms of drug addiction. Neuropharmacology 47 (Suppl. 1): 24–32.

    Article  CAS  PubMed  Google Scholar 

  6. Morgan, T. H. 1910. Sex-linked inheritance in Drosophila. Science 32: 120–122.

    Article  PubMed  CAS  Google Scholar 

  7. Morgan, T. H., Sturtevant, A. H., and Muller, H. J. 1915. The Mechanism of Mendelian Heredity. New York: Holt, Rhinehart & Winston.

    Google Scholar 

  8. Avery, O. T., MacLeod, C. M., and McCarty, M. 1944. Studies on the chemical nature of the substance inducing transformation of pneumonococcus types. Journal of Experimental Medicine 79: 137–158.

    Article  CAS  PubMed  Google Scholar 

  9. Bevis, D. C. 1952. The antenatal prediction of haemolytic disease of the newborn. The Lancet 1: 395–398.

    Article  CAS  Google Scholar 

  10. Watson, J. D. and Crick, F. H. C. 1953. Molecular structure of nucleic acids: a structure for deoxyribose nucleic acid. Nature 171: 737–738.

    Article  CAS  PubMed  Google Scholar 

  11. Tijo, H. J. and Levan, A. 1956. The chromosome numbers of man. Hereditas 42: 1–6.

    Google Scholar 

  12. Lejeune, J., Gautier, M., and Turpin, M. R. 1959. Etude des chromosomes somatiques de neuf enfants mongoliens. Comptes Rendus de l’Académie des Sciences (Paris) 248: 1721–1722.

    CAS  Google Scholar 

  13. McKusick, V. A. 1966. Mendelian Inheritance in Man; Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes. Baltimore, MD: Johns Hopkins Press.

    Google Scholar 

  14. Bell, G. I., Pictet, R. L., Rutter, W. J., Cordell, B., Tischer, E., and Goodman, H. M. 1980. Sequence of the human insulin gene. Nature 284: 26–32.

    Article  CAS  PubMed  Google Scholar 

  15. Riordan, J. R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J. L. et al., 1989. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066–1073.

    Article  CAS  PubMed  Google Scholar 

  16. Friedman, L. S., Ostermeyer, E. A., Szabo, C. I., Dowd, P., Lynch, E. D., Rowell, S. E., and King, M. C. 1994. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nature Genetics 8: 399–404.

    Article  CAS  PubMed  Google Scholar 

  17. Wooster, R. and Weber, B. L. 2003. Breast and ovarian cancer. New England Journal of Medicine 348: 2339–2347.

    Article  CAS  PubMed  Google Scholar 

  18. Price, D. T. and Ridker, P. M. 1997. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Annals of Internal Medicine 127: 895–903.

    CAS  PubMed  Google Scholar 

  19. De Stefano, V., Martinelli, I., Mannucci, P. M., Paciaroni, K., Chiusolo, P., Casorelli, I., Rossi, E., and Leone, G. 1999. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. New England Journal of Medicine 341: 801–806.

    Article  PubMed  Google Scholar 

  20. Primhak, R. A. and Tanner, M. S. 2001. Alpha-1 antitrypsin deficiency. Archives of Diseases in Childhood 85: 2–5.

    Article  CAS  Google Scholar 

  21. Sveger, T. and Thelin, T. 2000. A future for neonatal alpha1-antitrypsin screening. Acta Paediatrica 89: 259–261.

    Article  CAS  PubMed  Google Scholar 

  22. Ferrandi, M. and Bianchi, G. 2000. Genetic mechanisms underlying the regulation of urinary sodium excretion and arterial blood pressure: the role of adducin. Acta Physiologica Scandinavia 168: 187–193.

    Article  CAS  Google Scholar 

  23. Li, Y., Thijs, L., Kuznetsova, T., Zagato, L., Struijker-Boudier, H., Bianchi, G., and Staessen, J. A. 2005. Cardiovascular risk in relation to alpha-adducin Gly460Trp polymorphism and systolic pressure: a prospective population study. Hypertension 46: 527–532.

    Article  PubMed  Google Scholar 

  24. Goldstein, J. L. and Brown, M. S. 2001. Molecular medicine: the cholesterol quartet. Science 292: 1310–1312.

    Article  CAS  PubMed  Google Scholar 

  25. Ralston, S. H. 2002. Genetic control of susceptibility to osteoporosis. Journal of Clinical Endocrinology and Metabolism 87: 2460–2466.

    Article  CAS  PubMed  Google Scholar 

  26. van Tilburg, J., van Haeften, T. W., Pearson, P., and Wijmenga, C. 2001. Defining the genetic contribution of type 2 diabetes mellitus. Journal of Medical Genetics 38: 569–578.

    Article  PubMed  Google Scholar 

  27. Barroso, I. 2005. Genetics of type 2 diabetes. Diabetic Medicine 22: 517–535.

    Article  CAS  PubMed  Google Scholar 

  28. Humphries, S. E., Talmud, P. J., Hawe, E., Bolla, M., Day, I. N., and Miller, G. J. 2001. Apolipoprotein E4 and coronary heart disease in middle-aged men who smoke: a prospective study. Lancet 358: 115–119.

    Article  CAS  PubMed  Google Scholar 

  29. Humphries, S. E., Hawe, E., Dhamrait, S., Miller, G. J., and Talmud, P. J. 2003. In search of genetic precision. Lancet 361: 1908–1909.

    Article  PubMed  Google Scholar 

  30. Hirschhorn, J. N. 2005. Genetic approaches to studying common diseases and complex traits. Pediatric Research 57: 74R–77R.

    Article  PubMed  Google Scholar 

  31. Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., LeVine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, J. P., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J. C., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Waterston, R. H., Wilson, R. K., Hillier, L. W., McPherson, J. D., Marra, M. A., Mardis, E. R., Fulton, L. A., Chinwalla, A. T., Pepin, K. H., Gish, W. R., Chissoe, S. L., Wendl, M. C., Delehaunty, K. D., Miner, T. L., Delehaunty, A., Kramer, J. B., Cook, L. L., Fulton, R. S., Johnson, D. L., Minx, P. J., Clifton, S. W., Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J. F., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E., Frazier, M., Gibbs, R. A., Muzny, D. M., Scherer, S. E., Bouck, J. B., Sodergren, E. J., Worley, K. C., Rives, C. M., Gorrell, J. H., Metzker, M. L., Naylor, S. L., Kucherlapati, R. S., Nelson, D. L., Weinstock, G. M., Sakaki, Y., Fujiyama, A., Hattori, M., Yada, T., Toyoda, A., Itoh, T., Kawagoe, C., Watanabe, H., Totoki, Y., Taylor, T., Weissenbach, J., Heilig, R., Saurin, W., Artiguenave, F., Brottier, P., Bruls, T., Pelletier, E., Robert, C., Wincker, P., Smith, D. R., Doucette- Stamm, L., Rubenfield, M., Weinstock, K., Lee, H. M., Dubois, J., Rosenthal, A., Platzer, M., Nyakatura, G., Taudien, S., Rump, A., Yang, H., Yu, J., Wang, J., Huang, G., Gu, J., Hood, L., Rowen, L., Madan, A., Qin, S., Davis, R. W., Federspiel, N. A., Abola, A. P., Proctor, M. J., Myers, R. M., Schmutz, J., Dickson, M., Grimwood, J., Cox, D. R., Olson, M. V., Kaul, R., Shimizu, N., Kawasaki, K., Minoshima, S., Evans, G. A., Athanasiou, M., Schultz, R., Roe, B. A., Chen, F., Pan, H., Ramser, J., Lehrach, H., Reinhardt, R., McCombie, W. R., de la Bastide, M., Dedhia, N., Blocker, H., Hornischer, K., Nordsiek, G., Agarwala, R., Aravind, L., Bailey, J. A., Bateman, A., Batzoglou, S., Birney, E., Bork, P., Brown, D. G., Burge, C. B., Cerutti, L., Chen, H. C., Church, D., Clamp, M., Copley, R. R., Doerks, T., Eddy, S. R., Eichler, E. E., Furey, T. S., Galagan, J., Gilbert, J. G., Harmon, C., Hayashizaki, Y., Haussler, D., Hermjakob, H., Hokamp, K., Jang, W., Johnson, L. S., Jones, T. A., Kasif, S., Kaspryzk, A., Kennedy, S., Kent, W. J., Kitts, P., Koonin, E. V., Korf, I., Kulp, D., Lancet, D., Lowe, T. M., McLysaght, A., Mikkelsen, T., Moran, J. V., Mulder, N., Pollara, V. J., Ponting, C. P., Schuler, G., Schultz, J., Slater, G., Smit, A. F., Stupka, E., Szustakowski, J., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Wallis, J., Wheeler, R., Williams, A., Wolf, Y. I., Wolfe, K. H., Yang, S. P., Yeh, R. F., Collins, F., Guyer, M. S., Peterson, J., Felsenfeld, A., Wetterstrand, K. A., Patrinos, A., Morgan, M. J., Szustakowki, J., de Jong, P., Catanese, J. J., Osoegawa, K., Shizuya, H., Choi, S., and Chen, Y. J. 2001. Initial sequencing and analysis of the human genome. Nature 409: 860–921.

    Article  CAS  PubMed  Google Scholar 

  32. OMIM Online Mendelian Inheritance in Man 2004, available at <www.ncbi.nlm.nih.gov/ entrez/query.fcgi?db¼OMIM>.

  33. Barratt, A. L., Cockburn, J., Redman, S., Paul, C., and Perkins, J. 1997. Mammographic screening: results from the 1996 National Breast Health Survey. Medical Journal of Australia 167: 521–524.

    CAS  PubMed  Google Scholar 

  34. Australian Institute of Health and Welfare 2000. Cervical screening in Australia 1997–1998. AIHW Catalogue No. 9. Canberra: AIHW, 2000: 36, available at <http://www.aihw.gov.au/ publications/can/csa97-8/csa97–8.pdf>.

  35. HGSA Policy 2004. Antenatal screening for Down’s syndrome and other fetal aneuploidy, available at <http://www.hgsa.com.au/>.

  36. Wilcken, B. M. 2003. Does every baby get a newborn screening test? Medical Journal of Australia 179: 400–401.

    PubMed  Google Scholar 

  37. Wilcken, B., Wiley, V., Hammond, J., and Carpenter, K. 2003. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. New England Journal of Medicine 348: 2304–2312.

    Article  CAS  PubMed  Google Scholar 

  38. HGSA Guidelines 2003. Guidelines for testing for fragile X syndrome, available at <http://www.hgsa.com.au/>.

  39. Turner, G., Robinson, H., Wake, S., Laing, S., and Partington, M. 1997. Case finding for the fragile X syndrome and its consequences. British Medical Journal 315: 1223–1226.

    CAS  PubMed  Google Scholar 

  40. Gason, A. A., Sheffield, E., Bankier, A., Aitken, M. A., Metcalfe, S., Barlow-Stewart, K., and Delatycki, M. B. 2003. Evaluation of a Tay-Sachs disease screening program. Clinical Genetics 63: 386–392.

    Article  CAS  PubMed  Google Scholar 

  41. Barlow-Stewart, K., Burnett, L., Proos, A., Howell, V., Huq, F., Lazarus, R., and Aizenberg, H. 2003. A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. Journal of Medical Genetics 40: 45.

    Article  Google Scholar 

  42. Ibid.

    Google Scholar 

  43. Sydney Ultrasound for Women 2002, available at <http://sufw.com.au/>.

  44. Wilson, J. M. and Jungner, G. 1968. Principles and Practice of Screening for Disease. Geneva: World Health Organization.

    Google Scholar 

  45. National Research Council (U.S.). Committee for the Study of Inborn Errors of Metabolism. 1975. Genetic Screening: Programs, Principles, and Research. Washington, DC: National Academy of Sciences.

    Google Scholar 

  46. Collins, V. and Williamson, R. 2003. Providing services for families with a genetic condition: a contrast between cystic fibrosis and Down’s syndrome. Pediatrics 112: 1177–1180.

    Article  PubMed  Google Scholar 

  47. Beutler, E., Boggs, D. R., Heller, P., Maurer, A., Motulsky, A. G., and Sheehy, T. W. 1971. Hazards of indiscriminate screening for sickly. New England Journal Medicine 285: 1485–1486.

    Article  CAS  Google Scholar 

  48. Hampton, M. L., Anderson, J., Lavizzo, B. S., and Bergmen, A. B. 1974. Sickle cell ‘‘nondisease.’’ A potentially serious public health problem. American Journal of Diseases of Children 128: 58–61.

    CAS  Google Scholar 

  49. Rotter, J. I. and Diamond, J. M. 1987. What maintains the frequencies of human genetic diseases? Nature 329: 289–290.

    Article  CAS  PubMed  Google Scholar 

  50. Modell, B. and Modell, M. 1992. Towards a Healthy Baby: Congenital Disorders and the New Genetics in Primary Care. Oxford: Oxford University Press, 358–359.

    Google Scholar 

  51. Mueller, R. F. and Young, I. D. 2001. Emery’s Elements of Medical Genetics, 11th edn. Edinburgh: Churchill Livingstone, 372.

    Google Scholar 

  52. Modell and Modell, ibid., 359–361.

    Google Scholar 

  53. Mayeux, R., Saunders, A. M., Shea, S., Mirra, S., Evans, D., Roses, A. D., Hyman, B. T., Crain, B., Tang, M. X., and Phelps, C. H. 1998. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer’s disease. Alzheimer’s Disease Centres Consortium on Apolipoprotein E and Alzheimer’s Disease. New England Journal of Medicine 338: 506–511.

    Article  CAS  PubMed  Google Scholar 

  54. Farrer, L. A., Cupples, L. A., Haines, J. L., Hyman, B., Kukull, W. A., Mayeux, R., Myers, R. H., Pericak-Vance, M. A., Risch, N., and van Duijn, C. M. 1997. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. Journal of the American Medical Association 278: 1349–1356.

    Article  CAS  PubMed  Google Scholar 

  55. Yip, A. G., Brayne, C., Easton, D., Rubinsztein, D. C., and Medical Research Council Cognitive Function Ageing Study. 2002. Apolipoprotein E4 is only a weak predictor of dementia and cognitive decline in the general population. Journal of Medical Genetics 39: 639–643.

    Google Scholar 

  56. Panegyres, P. K., Goldblatt, J., Walpole, I., Connor, C., Liebeck, T., and Harrop, K. 2000. Genetic testing for Alzheimer’s disease. Medical Journal of Australia 172: 339–343.

    CAS  PubMed  Google Scholar 

  57. Post, S. G., Whitehouse, P. J., Binstock, R. H., Bird, T. D., Eckert, S. K., Farrer, L. A., Fleck, L. M., Gaines, A. D., Juengst, E. T., Karlinsky, H., Miles, S., Murray, T. H., Quaid, K. A., Relkin, N. R., Roses, A. D., St George-Hyslop, P. H., Sachs, G. A., Steinbock, B., Truschke, E. F., and Zinn, A. B. 1997. The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. Journal of the American Medical Association 277: 832–836.

    Article  CAS  PubMed  Google Scholar 

  58. Bird, T. D. 2005. Genetic factors in Alzheimer’s disease. New England Journal of Medicine 352: 862–864.

    Article  CAS  PubMed  Google Scholar 

  59. Jonsen, A. R., Durfy, S. J., Burke, W., and Motulsky, A. G. 1996. The advent of the ‘‘unpatients’’. Nature Medicine 2: 622–624.

    Article  CAS  PubMed  Google Scholar 

  60. Broadstock, M., Michie, S., and Marteau, T. 2000. Psychological consequences of predictive genetic testing: a systematic review. European Journal of Human Genetics 8: 731–738.

    Article  CAS  PubMed  Google Scholar 

  61. Davison, C., 1996 in The troubled helix. Social and psychological implications of the new human genetics, edited by T. Marteau and M. P. M. Richards, Cambridge University Press, Cambridge, pp. 317–330.

    Google Scholar 

  62. Phillips, K. A., Veenstra, D. L., Oren, E., Lee, J. K., and Sadee, W. 2001. Potential role of pharmacogenomics in reducing adverse drug reactions: a systematic review. Journal of the American Medical Association 286: 2270–2279.

    Article  CAS  PubMed  Google Scholar 

  63. Mueller, R. and Young, I. 2001. op.cit. pp. 169–170.

    Google Scholar 

  64. Collins, F. S. 1999. Genetics: an explosion of knowledge is transforming clinical practice. Geriatrics 54: 41–47.

    CAS  PubMed  Google Scholar 

  65. Roses, A. D. 2000a. Pharmacogenetics and the practice of medicine. Nature 405: 857–865.

    Article  CAS  PubMed  Google Scholar 

  66. Evans, W. E. and Relling, M. V. 1999. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286: 487–491.

    Article  CAS  PubMed  Google Scholar 

  67. Roses, A. D. 2000a. op.cit.

    Google Scholar 

  68. Roses, A. D. 2000b. Pharmacogenetics and future drug development and delivery. Lancet 355: 1358–1361.

    Article  CAS  PubMed  Google Scholar 

  69. ibid.

    Google Scholar 

  70. Glasziou, P. P. and Irwig, L. M. 1997. Mammographic screening in Australia. Medical Journal of Australia 167: 516–517.

    CAS  PubMed  Google Scholar 

  71. Barratt, A. L. et al. 1997. op.cit.

    Google Scholar 

  72. Australian Institute of Health and Welfare 2000. op. cit.

    Google Scholar 

  73. Walpole, I. R., Watson, C., Moore, D., Goldblatt, J., and Bower, C. 1997. Evaluation of a project to enhance knowledge of hereditary diseases and management. Journal of Medical Genetics 34: 831–837.

    Article  CAS  PubMed  Google Scholar 

  74. Dietrich, H. and Schibeci, R. 2003. Beyond public perceptions of gene technology: community participation in public policy in Australia. Public Understanding of Science 12: 381–401.

    Article  PubMed  Google Scholar 

  75. Australian Law Reform Commission Report 96. 2003. Essentially Yours: The Protection of Human Genetic Information in Australia <http://www.austlii.edu.au/au/other/alrc/ publications/reports/96/ALRC96.rtf/>. Australian Government Printers.

  76. Wilcken, B. M. 2003. op.cit.

    Google Scholar 

  77. Metz, M. P., Ranieri, E., Gerace, R. L., Priest, K. R., Luke, C. G., and Chan, A. 2003. Newborn screening in South Australia: is it universal? Medical Journal of Australia 179: 412–415.

    PubMed  Google Scholar 

  78. Suriadi, C., Jovanovska, M., and Quinlivan, J. A. 2004. Factors affecting mothers’ knowledge of genetic screening. Australian and New Zealand Journal of Obstetrics and Gynaecology 44: 30–34.

    Article  PubMed  Google Scholar 

  79. Mulvey, S. and Wallace, E. M. 2001. Levels of knowledge of Down’s syndrome and Down’s syndrome testing in Australian women. Australian and New Zealand Journal of Obstetrics and Gynaecology 41: 167–169.

    Article  CAS  PubMed  Google Scholar 

  80. Mulvey, S. and Wallace, E. M. 2000. Women’s knowledge of and attitudes to first and second trimester screening for Down’s syndrome. British Journal of Obstetrics and Gynaecology 107: 1302–1305.

    CAS  PubMed  Google Scholar 

  81. Rostant, K., Steed, L., and O’Leary, P. 2003. Survey of the knowledge, attitudes and experiences of Western Australian women in relation to prenatal screening and diagnostic procedures. Australian and New Zealand Journal of Obstetrics and Gynaecology 43: 134–138.

    Article  PubMed  Google Scholar 

  82. Halliday, J. L., Warren, R., McDonald, G., Rice, P. L., Bell, R. J., and Watson, L. F. 2001. Prenatal diagnosis for women aged 37 years and over: to have or not to have. Prenatal Diagnosis 21: 842–847.

    Article  CAS  PubMed  Google Scholar 

  83. Suriadi, C. et al. 2003. op.cit.

    Google Scholar 

  84. Gason, A. et al. 2003. op.cit.

    Google Scholar 

  85. Gordon, C., Walpole, I., Zubrick, S. R., and Bower, C. 2003. Population screening for cystic fibrosis: knowledge and emotional consequences 18 months later. American Journal of Medical Genetics 120A: 199–208.

    Article  PubMed  Google Scholar 

  86. Barlow Stewart, K. et al. 2003. op.cit.

    Google Scholar 

  87. Wake, S. A., Rogers, C. J., Colley, P. W., Hieatt, E. A., Jenner, C. F., and Turner, G. M. 1996. Cystic fibrosis carrier screening in two New South Wales country towns. Medical Journal of Australia 164: 471–474.

    CAS  PubMed  Google Scholar 

  88. Collins, V., Halliday, J., Kahler, S., and Williamson, R. 2001. Parents’ experiences with genetic counseling after the birth of a baby with a genetic disorder: an exploratory study. Journal of Genetic Counseling 10: 53–72.

    Article  Google Scholar 

  89. Nisselle, A. E., Delatycki, M. B., Collins, V., Metcalfe, S. Aitken, M. A. du Sart, D., Halliday, J., Macciocca, I., Wakefield, A., Hill, V., Gason, A., Warner, B., Calabro, V., Williamson, R., and Allen, K. J. 2004. Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis. Clinical Genetics 65: 358–367.

    Article  CAS  PubMed  Google Scholar 

  90. Delatycki, M. B., Allen, K. J., Nisselle, A. E., Collins, V., Metcalfe, S., du Sart, D., Halliday, J., Aitken, M. A., Macciocca, I., Hill, V., et al. 2005. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 366: 314–316.

    Article  CAS  PubMed  Google Scholar 

  91. Olynyk, J. K., Cullen, D. J., Aquilia, S., Rossi, E., Summerville, L., and Powell, L. W. 1999. A population-based study of the clinical expression of the hemochromatosis gene. New England Journal of Medicine 341: 718–724.

    Article  CAS  PubMed  Google Scholar 

  92. Beutler, E., Felitti, V. J., Koziol, J. A., Ho, N. J., and Gelbart, T. 2002. Penetrance of 845G!A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359: 211–218.

    Article  PubMed  Google Scholar 

  93. Gertig, D. M., Hopper, J. L., and Allen, K. J. 2003. Population genetic screening for hereditary haemochromatosis. Medical Journal of Australia 179: 517–518.

    PubMed  Google Scholar 

  94. Imperatore, G., Pinsky, L. E., Motulsky, A., Reyes, M., Bradley, L. A., and Burke, W. 2003. Hereditary hemochromatosis: Perspectives of public health, medical genetics, and primary care. Genetics in Medicine 5: 1–8.

    Article  CAS  PubMed  Google Scholar 

  95. Gason, A. A., Aitken, M. A., Metcalfe, S. A., Allen, K., and Delatycki, M. B. 2004. Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis. Clinical Genetics 67: 166–174.

    Article  Google Scholar 

  96. Jackson, L. 2003. Fetal cells and DNA in maternal blood. Prenatal Diagnosis 23: 837–846.

    Article  PubMed  Google Scholar 

  97. Ng, E. K., Tsui, N. B., Lau, T. K., Leung, T. N., Chiu, R. W., Panesar, N. S., Lit, L. C., Chan, K. W., and Lo, Y. M. 2003. mRNA of placental origin is readily detectable in maternal plasma. Proceedings of the National Academy of Sciences of the United States of America 100: 4748–4753.

    Article  CAS  PubMed  Google Scholar 

  98. Beskow, L. M., Khoury, M. J., Baker, T. G., and Thrasher, J. F. 2001. The integration of genomics into public health research, policy and practice in the United States. Community Genetics 4: 2–11.

    Article  PubMed  Google Scholar 

  99. Halliday, J. L., Collins, V. R., Aitken, M. A., Richards, M. P. M., and Olsson, C. A. 2004. Genetics and public health - evolution, or revolution? Journal of Epidemiology and Community Health 58(11):894–9.

    Article  PubMed  Google Scholar 

  100. Ouhibi, N., Olson, S., Patton, P., and Wolf, D. 2001. Preimplantation genetic diagnosis. Current Women’s Health Reports 1: 138–142.

    CAS  PubMed  Google Scholar 

  101. Lockhart, D. J. and Winzeler, E. A. 2000. Genomics, gene expression and DNA arrays. Nature 405: 827–836.

    Article  CAS  PubMed  Google Scholar 

  102. Kerr, A. and Shakespeare, T. 2002. Gene politics : from eugenics to genome. New Clarion press, Cheltenham.

    Google Scholar 

  103. Dietrich, H. and Schibeci, R. 2003. op.cit.

    Google Scholar 

  104. Bubela, T. M. and Caulfield, T. A. 2004. Do the print media ‘‘hype’’ genetic research? A comparison of newspaper stories and peer-reviewed research papers. Canadian Medical Association Journal 170: 1399–1407.

    Article  PubMed  Google Scholar 

  105. Metcalfe, S., Hurworth, R., Newstead, J., and Robins, R. 2002. Needs assessment study of genetics education for general practitioners in Australia. Genetics in Medicine 4: 71–77.

    Article  PubMed  Google Scholar 

  106. Newstead, J., Delatycki, M. B., and Aitken, M. A. 2002. Haemochromatosis and family testing, what should a GP do? Australian Family Physician 31: 533–537.

    PubMed  Google Scholar 

  107. Crawford, M. J., Rutter, D., Manley, C., Weaver, T., Bhui, K., Fulop, N., and Tyrer, P. 2002. Systematic review of involving patients in the planning and development of health care. British Medical Journal 325: 1263.

    Article  PubMed  Google Scholar 

  108. Halliday, J. et al. 2004. op.cit.

    Google Scholar 

  109. Beskow, L. M. et al. 2001. op.cit.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2006 Springer

About this chapter

Cite this chapter

Aitken, M., Metcalfe, S. (2006). The Social Imperative for Community Genetic Screening: An Australian Perspective. In: Betta, M. (eds) The Moral, Social, and Commercial Imperatives of Genetic Testing and Screening. International Library of Ethics, Law, and the New Medicine, vol 30. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-4619-3_7

Download citation

Publish with us

Policies and ethics