Skip to main content
NCBI home page
Journal of Medical Ethics logoLink to Journal of Medical Ethics
. 2005 Nov;31(11):625–630. doi: 10.1136/jme.2005.011965

Ethical considerations in presymptomatic testing for variant CJD

R Duncan 1, M Delatycki 1, S Collins 1, A Boyd 1, C Masters 1, J Savulescu 1
PMCID: PMC1734042  PMID: 16269554

Abstract

Variant Creutzfeldt–Jakob disease (vCJD) is a fatal, transmissible, neurodegenerative disorder for which there is currently no effective treatment. vCJD arose from the zoonotic spread of bovine spongiform encephalopathy. There is now compelling evidence for human to human transmission through blood transfusions from presymptomatic carriers and experts are warning that the real epidemic may be yet to come. Imperatives exist for the development of reliable, non-invasive presymptomatic diagnostic tests. Research into such tests is well advanced. In this article the ethical implications of the availability of these tests are elaborated and comparisons drawn with predictive genetic testing for Huntington's disease and screening for HIV. Paramount to considerations is the issue of whom to test, weighing up respect for personal autonomy against obligations to benefit and protect society. A paradigm is proposed similar to that used for HIV screening but with unique features: compulsory testing of all blood/organ donors and individuals undergoing surgery or invasive procedures who have a significant risk of disease transmission.

Full Text

The Full Text of this article is available as a PDF (73.7 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Almond J., Pattison J. Human BSE. Nature. 1997 Oct 2;389(6650):437–438. doi: 10.1038/38876. [DOI] [PubMed] [Google Scholar]
  2. Almqvist E. W., Bloch M., Brinkman R., Craufurd D., Hayden M. R. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet. 1999 May;64(5):1293–1304. doi: 10.1086/302374. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Bernoulli C., Siegfried J., Baumgartner G., Regli F., Rabinowicz T., Gajdusek D. C., Gibbs C. J., Jr Danger of accidental person-to-person transmission of Creutzfeldt-Jakob disease by surgery. Lancet. 1977 Feb 26;1(8009):478–479. doi: 10.1016/s0140-6736(77)91958-4. [DOI] [PubMed] [Google Scholar]
  4. Binedell J., Soldan J. R., Harper P. S. Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales. Clin Genet. 1998 Dec;54(6):477–488. doi: 10.1111/j.1399-0004.1998.tb03768.x. [DOI] [PubMed] [Google Scholar]
  5. Bird Sheila M. Recipients of blood or blood products "at vCJD risk". BMJ. 2004 Jan 17;328(7432):118–119. doi: 10.1136/bmj.328.7432.118. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Bird T. D. Outrageous fortune: the risk of suicide in genetic testing for Huntington disease. Am J Hum Genet. 1999 May;64(5):1289–1292. doi: 10.1086/302388. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Blajchman Morris A., Goldman Mindy, Webert Kathryn E., Vamvakas Eleftherios C., Hannon Judith, Delage Gilles. Proceedings of a consensus conference: the screening of blood donors for variant CJD. Transfus Med Rev. 2004 Apr;18(2):73–92. doi: 10.1016/j.tmrv.2003.12.006. [DOI] [PubMed] [Google Scholar]
  8. Bonn D. Future uncertain for reliable vCJD screening tests. Lancet. 2000 Jul 15;356(9225):228–228. doi: 10.1016/S0140-6736(05)74481-0. [DOI] [PubMed] [Google Scholar]
  9. Brown P. On the origins of BSE. Lancet. 1998 Jul 25;352(9124):252–253. doi: 10.1016/S0140-6736(05)60255-3. [DOI] [PubMed] [Google Scholar]
  10. Brown P., Preece M., Brandel J. P., Sato T., McShane L., Zerr I., Fletcher A., Will R. G., Pocchiari M., Cashman N. R. Iatrogenic Creutzfeldt-Jakob disease at the millennium. Neurology. 2000 Oct 24;55(8):1075–1081. doi: 10.1212/wnl.55.8.1075. [DOI] [PubMed] [Google Scholar]
  11. Bruce M. E., Will R. G., Ironside J. W., McConnell I., Drummond D., Suttie A., McCardle L., Chree A., Hope J., Birkett C. Transmissions to mice indicate that 'new variant' CJD is caused by the BSE agent. Nature. 1997 Oct 2;389(6650):498–501. doi: 10.1038/39057. [DOI] [PubMed] [Google Scholar]
  12. Collinge J. Prion diseases of humans and animals: their causes and molecular basis. Annu Rev Neurosci. 2001;24:519–550. doi: 10.1146/annurev.neuro.24.1.519. [DOI] [PubMed] [Google Scholar]
  13. Collinge J., Sidle K. C., Meads J., Ironside J., Hill A. F. Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD. Nature. 1996 Oct 24;383(6602):685–690. doi: 10.1038/383685a0. [DOI] [PubMed] [Google Scholar]
  14. Collinge J. Variant Creutzfeldt-Jakob disease. Lancet. 1999 Jul 24;354(9175):317–323. doi: 10.1016/S0140-6736(99)05128-4. [DOI] [PubMed] [Google Scholar]
  15. Collins Steven J., Lawson Victoria A., Masters Colin L. Transmissible spongiform encephalopathies. Lancet. 2004 Jan 3;363(9402):51–61. doi: 10.1016/S0140-6736(03)15171-9. [DOI] [PubMed] [Google Scholar]
  16. Delatycki M., Tassicker R. Adult onset neurological disorders. Predictive genetic testing. Aust Fam Physician. 2001 Oct;30(10):948–952. [PubMed] [Google Scholar]
  17. Fichet Guillaume, Comoy Emmanuel, Duval Christelle, Antloga Kathleen, Dehen Capucine, Charbonnier Aurore, McDonnell Gerald, Brown Paul, Lasmézas Corinne Ida, Deslys Jean-Philippe. Novel methods for disinfection of prion-contaminated medical devices. Lancet. 2004 Aug 7;364(9433):521–526. doi: 10.1016/S0140-6736(04)16810-4. [DOI] [PubMed] [Google Scholar]
  18. Frosh Adam, Smith Lorraine C., Jackson Carl J., Linehan Jacqueline M., Brandner Sebastian, Wadsworth Jonathan D. F., Collinge John. Analysis of 2000 consecutive UK tonsillectomy specimens for disease-related prion protein. Lancet. 2004 Oct 2;364(9441):1260–1262. doi: 10.1016/S0140-6736(04)17143-2. [DOI] [PubMed] [Google Scholar]
  19. Gregori Luisa, McCombie Nancy, Palmer Douglas, Birch Paul, Sowemimo-Coker Samuel O., Giulivi Antonio, Rohwer Robert G. Effectiveness of leucoreduction for removal of infectivity of transmissible spongiform encephalopathies from blood. Lancet. 2004 Aug 7;364(9433):529–531. doi: 10.1016/S0140-6736(04)16812-8. [DOI] [PubMed] [Google Scholar]
  20. Hill A. F., Butterworth R. J., Joiner S., Jackson G., Rossor M. N., Thomas D. J., Frosh A., Tolley N., Bell J. E., Spencer M. Investigation of variant Creutzfeldt-Jakob disease and other human prion diseases with tonsil biopsy samples. Lancet. 1999 Jan 16;353(9148):183–189. doi: 10.1016/s0140-6736(98)12075-5. [DOI] [PubMed] [Google Scholar]
  21. Hill A. F., Desbruslais M., Joiner S., Sidle K. C., Gowland I., Collinge J., Doey L. J., Lantos P. The same prion strain causes vCJD and BSE. Nature. 1997 Oct 2;389(6650):448-50, 526. doi: 10.1038/38925. [DOI] [PubMed] [Google Scholar]
  22. Hilton David A., Ghani Azra C., Conyers Lisa, Edwards Philip, McCardle Linda, Ritchie Diane, Penney Mark, Hegazy Doha, Ironside James W. Prevalence of lymphoreticular prion protein accumulation in UK tissue samples. J Pathol. 2004 Jul;203(3):733–739. doi: 10.1002/path.1580. [DOI] [PubMed] [Google Scholar]
  23. Horby P. Variant Creutzfeldt-Jakob disease: an unfolding epidemic of misfolded proteins. J Paediatr Child Health. 2002 Dec;38(6):539–542. doi: 10.1046/j.1440-1754.2002.00055.x. [DOI] [PubMed] [Google Scholar]
  24. Hunter Mark. Inquiry into handling of CJD alert welcomed. BMJ. 2002 Nov 9;325(7372):1055–1055. doi: 10.1136/bmj.325.7372.1055/a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Kmietowicz Zosia. Patients informed of increased risk of vCJD contact. BMJ. 2004 Sep 25;329(7468):702–702. doi: 10.1136/bmj.329.7468.702-c. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Llewelyn C. A., Hewitt P. E., Knight R. S. G., Amar K., Cousens S., Mackenzie J., Will R. G. Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. Lancet. 2004 Feb 7;363(9407):417–421. doi: 10.1016/S0140-6736(04)15486-X. [DOI] [PubMed] [Google Scholar]
  27. McDonnell Gerald, Burke Peter. The challenge of prion decontamination. Clin Infect Dis. 2003 Apr 22;36(9):1152–1154. doi: 10.1086/374668. [DOI] [PubMed] [Google Scholar]
  28. Meiser B., Dunn S. Psychological effect of genetic testing for Huntington's disease: an update of the literature. West J Med. 2001 May;174(5):336–340. doi: 10.1136/ewjm.174.5.336. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Minor P. D. Technical aspects of the development and validation of tests for variant Creutzfeldt-Jakob disease in blood transfusion. Vox Sang. 2004 Apr;86(3):164–170. doi: 10.1111/j.0042-9007.2004.00411.x. [DOI] [PubMed] [Google Scholar]
  30. Peden Alexander H., Head Mark W., Ritchie Diane L., Bell Jeanne E., Ironside James W. Preclinical vCJD after blood transfusion in a PRNP codon 129 heterozygous patient. Lancet. 2004 Aug 7;364(9433):527–529. doi: 10.1016/S0140-6736(04)16811-6. [DOI] [PubMed] [Google Scholar]
  31. Safar J., Wille H., Itri V., Groth D., Serban H., Torchia M., Cohen F. E., Prusiner S. B. Eight prion strains have PrP(Sc) molecules with different conformations. Nat Med. 1998 Oct;4(10):1157–1165. doi: 10.1038/2654. [DOI] [PubMed] [Google Scholar]
  32. Sneath P. H. A. Estimation of the size of the vCJD epidemic. Antonie Van Leeuwenhoek. 2004 Aug;86(2):93–103. doi: 10.1023/B:ANTO.0000036145.53052.3b. [DOI] [PubMed] [Google Scholar]
  33. Sobel S. K., Cowan D. B. Impact of genetic testing for Huntington disease on the family system. Am J Med Genet. 2000 Jan 3;90(1):49–59. doi: 10.1002/(sici)1096-8628(20000103)90:1<49::aid-ajmg10>3.0.co;2-3. [DOI] [PubMed] [Google Scholar]
  34. Spinney Laura. vCJD epidemic could be first of many, experts warn. Nat Med. 2003 Sep;9(9):1096–1096. doi: 10.1038/nm0903-1096a. [DOI] [PubMed] [Google Scholar]
  35. Tan L., Williams M. A., Khan M. K., Champion H. C., Nielsen N. H. Risk of transmission of bovine spongiform encephalopathy to humans in the United States: report of the Council on Scientific Affairs. American Medical Association. JAMA. 1999 Jun 23;281(24):2330–2339. doi: 10.1001/jama.281.24.2330. [DOI] [PubMed] [Google Scholar]
  36. Trevitt Clare R., Singh Pramil N. Variant Creutzfeldt-Jakob disease: pathology, epidemiology, and public health implications. Am J Clin Nutr. 2003 Sep;78(3 Suppl):651S–656S. doi: 10.1093/ajcn/78.3.651S. [DOI] [PubMed] [Google Scholar]
  37. Wadsworth J. D., Joiner S., Hill A. F., Campbell T. A., Desbruslais M., Luthert P. J., Collinge J. Tissue distribution of protease resistant prion protein in variant Creutzfeldt-Jakob disease using a highly sensitive immunoblotting assay. Lancet. 2001 Jul 21;358(9277):171–180. doi: 10.1016/s0140-6736(01)05403-4. [DOI] [PubMed] [Google Scholar]
  38. Wells G. A., Scott A. C., Johnson C. T., Gunning R. F., Hancock R. D., Jeffrey M., Dawson M., Bradley R. A novel progressive spongiform encephalopathy in cattle. Vet Rec. 1987 Oct 31;121(18):419–420. doi: 10.1136/vr.121.18.419. [DOI] [PubMed] [Google Scholar]
  39. Will R. G., Ironside J. W., Zeidler M., Cousens S. N., Estibeiro K., Alperovitch A., Poser S., Pocchiari M., Hofman A., Smith P. G. A new variant of Creutzfeldt-Jakob disease in the UK. Lancet. 1996 Apr 6;347(9006):921–925. doi: 10.1016/s0140-6736(96)91412-9. [DOI] [PubMed] [Google Scholar]
  40. Will R. G., Zeidler M., Stewart G. E., Macleod M. A., Ironside J. W., Cousens S. N., Mackenzie J., Estibeiro K., Green A. J., Knight R. S. Diagnosis of new variant Creutzfeldt-Jakob disease. Ann Neurol. 2000 May;47(5):575–582. [PubMed] [Google Scholar]

Articles from Journal of Medical Ethics are provided here courtesy of BMJ Publishing Group

RESOURCES