Familial Cancer

, Volume 9, Issue 1, pp 9–14

A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions

Article

Abstract

Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for later onset and/or reduced penetrance inherited cancer predispositions, e.g. familial adenomatous polyposis, hereditary non-polyposis colorectal cancer/Lynch syndrome and hereditary breast and ovarian cancer, raise a number of ethical issues. Some of these are the same as for conditions which present early in childhood, are fully penetrant and for which no/limited treatment options are possible; others relate to whether reduced penetrance and/or the availability of treatment mean that these are not serious (enough) conditions to warrant tests prior to/during pregnancy or to justify termination of pregnancy. However, attempts to reach a consensus on what counts as a serious (enough) condition in the context of PND and PGD have been unsuccessful. Such a definition may anyway be unhelpful if it cannot also take into account, for example, the woman’s/couple’s awareness and experience of the condition and the impact of the condition on affected individuals and their families. Individuals affected by, or at high risk of, later onset and/or reduced penetrance inherited cancer predispositions are generally supportive of access to PND and PGD for their own conditions, even if they would not consider using it themselves. Professionals working in clinical cancer genetics need to be prepared to discuss PND and PGD with this group of patients.

Keywords

BRCA1/2 Cancer predispositions Ethical issues FAP HNPCC Preimplantation genetic diagnosis Prenatal diagnosis 

Abbreviations

ESHRE

European Society of Human Reproduction and Embryology

FAP

Familial adenomatous polyposis

HNPCC

Hereditary non-polyposis colorectal cancer

HFEA

Human Fertilisation and Embryology Authority

PGD

Preimplantation genetic diagnosis

PND

Prenatal diagnosis

References

  1. 1.
    Ekwo EE, Kim J-O, Gosselink CA (1987) Parental perceptions of the burden of genetic disease. Am J Med Genet 28:955–963CrossRefPubMedGoogle Scholar
  2. 2.
    Frets PG, Duivenvoorden HJ, Verhage F et al (1990) Factors influencing the reproductive decision after genetic counseling. Am J Med Genet 35:496–502CrossRefPubMedGoogle Scholar
  3. 3.
    Drugan A, Greb A, Johnson MP et al (1990) Determinants of parental decisions to abort for chromosome abnormalities. Prenat Diagn 10:483–490CrossRefPubMedGoogle Scholar
  4. 4.
    Wertz DC, Janes SR, Rosenfield JM et al (1992) Attitudes toward the prenatal diagnosis of cystic fibrosis: factors in decision making among affected families. Am J Hum Genet 50:1077–1085PubMedGoogle Scholar
  5. 5.
    Evans MI, Sobiecke MA, Krivchenia EL et al (1996) Parental decisions to terminate/continue following abnormal cytogenetic prenatal diagnosis: “What” is still more important than “When”. Am J Med Genet 61:353–355CrossRefPubMedGoogle Scholar
  6. 6.
    Beeson D, Doksom T (2001) Family values and resistance to genetic counseling. In: Hoffmaster B (ed) Bioethics in context. Temple, PhiladelphiaGoogle Scholar
  7. 7.
    Middleton A, Hewison J, Mueller RF (2001) Prenatal diagnosis for inherited deafness—what is the potential demand? J Genet Couns 10:121–131CrossRefPubMedGoogle Scholar
  8. 8.
    Gooding HC, Boehm K, Thompson RE et al (2002) Issues surrounding prenatal testing for achondroplasia. Prenat Diagn 22:933–940CrossRefPubMedGoogle Scholar
  9. 9.
    Callahan D (1986) How technology is reframing the abortion debate. Hastings Cent Rep 16:33–42CrossRefPubMedGoogle Scholar
  10. 10.
    Harris J (1985) The value of life. Routledge, LondonGoogle Scholar
  11. 11.
    Tooley M (1972) Abortion and infanticide. Philos Public Aff 2:37–65Google Scholar
  12. 12.
    Jones DG (1998) Anatomy and ethics: an exploration of some ethical dimensions of contemporary anatomy. Clin Anat 11:100–105CrossRefPubMedGoogle Scholar
  13. 13.
    Marquis D (1989) Why abortion is immoral. J Philos 4:183–202CrossRefGoogle Scholar
  14. 14.
    Finnis J (1994) Abortion and health care ethics. In: Gillon R (ed) Principles of health care ethics. John Wiley, ChichesterGoogle Scholar
  15. 15.
    Reichlin M (1997) The argument from potential: a reappraisal. Bioethics 11:1–23CrossRefPubMedGoogle Scholar
  16. 16.
    Warnock Report (1984) Report of the committee of inquiry into human fertilisation and embryology, cmnd 9314. HMSO, LondonGoogle Scholar
  17. 17.
    Glover J (1989) Fertility and the family: the Glover report on reproductive technologies to the European commission. Fourth Estate, LondonGoogle Scholar
  18. 18.
    Human Fertilisation and Embryology Act (1990) Available at http://www.opsi.gov.uk/acts/acts1990/Ukpga_19900037_en_1.htm cited 01/02/09
  19. 19.
    The 1990 Act was amended by the Human Fertilisation and Embryology Act (2008) Available at http://www.opsi.gov.uk/acts/acts2008/ukpga_20080022_en_1 cited 01/02/09
  20. 20.
    McLaren A (1986) Embryo research. Nature 320:570CrossRefPubMedGoogle Scholar
  21. 21.
    Lockwood M (1988) Warnock versus Powell (and Harradine): when does potentiality count? Bioethics 2:187–213CrossRefPubMedGoogle Scholar
  22. 22.
    Thornhill AR, de Die-Smulders CE, Geraedts JP et al (2005) ESHRE PGD consortium best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 20:35–48CrossRefPubMedGoogle Scholar
  23. 23.
    Gunning J (1999) Legal regulation concerning preimplantation diagnosis. In: Hildt E, Graumann S (eds) Genetics in human reproduction. Ashgate, Aldershot, pp 261–272Google Scholar
  24. 24.
    Watt H (2004) Preimplantation genetic diagnosis: choosing the “Good Enough” child. Health Care Anal 12:51–60CrossRefPubMedGoogle Scholar
  25. 25.
    Katz MG, Fitzgerald L, Bankier A et al (2002) Issues and concerns of couples presenting for preimplantation genetic diagnosis (PGD). Prenat Diagn 22:1117–1122CrossRefPubMedGoogle Scholar
  26. 26.
    Kastrinos F, Stoffel EM, Balmaña J et al (2007) Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. Am J Gastroenterol 102:1284–1290CrossRefPubMedGoogle Scholar
  27. 27.
    Glover J (1992) Future people, disability, and screening. In: Laslett P, Fishkin J (eds) Justice between age groups and generations. Yale University Press, New HavenGoogle Scholar
  28. 28.
    Shakespeare T (1998) Choices and rights: eugenics, genetics and disability equality. Disabil Soc 13:665–681CrossRefPubMedGoogle Scholar
  29. 29.
    Kerr A, Cunningham-Burley S, Amos A (1998) Drawing the line: an analysis of lay people’s discussions about the new genetics. Public Underst Sci 7:113–133CrossRefPubMedGoogle Scholar
  30. 30.
    Parens E, Asch A (1999) The disability rights critique of prenatal genetic testing. Hastings Cent Rep 29(5):S1–S22CrossRefPubMedGoogle Scholar
  31. 31.
    Wertz DC, Knoppers BM (2002) Serious genetic disorders: can or should they be defined? Am J Med Genet 108:29–35CrossRefPubMedGoogle Scholar
  32. 32.
    HFEA (2007) List of conditions licensed by the HFEA. Available at http://www.hfea.gov.uk/docs/PGD_list.pdf cited 01/02/09 (this is not a complete list of licensed conditions)
  33. 33.
    HFEA (2004) HFEA licenses PGD for inherited colon cancer. Available at http://www.hfea.gov.uk/en/1049.html cited 01/02/09
  34. 34.
    HFEA (2005) Choices and boundaries: should people be able to select embryos free from an inherited susceptibility to cancer? Available at http://www.hfea.gov.uk/docs/Choices_Boundaries.pdf cited 01/02/09
  35. 35.
    HFEA (2006) Authority decision on the use of PGD for lower penetrance, later onset inherited conditions. Available at http://www.hfea.gov.uk/docs/The_Authority_decision_-_Choices_and_boundaries.pdf cited 01/02/09
  36. 36.
    Post SG (1992) Huntington’s disease: prenatal screening for late onset disease. J Med Ethics 18:75–78CrossRefPubMedGoogle Scholar
  37. 37.
    Decruyenaere M, Evers-Kiebooms G, Boogaerts A et al (2007) The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. Eur J Hum Genet 15:453–462CrossRefPubMedGoogle Scholar
  38. 38.
    Roberts C, Franklin S (2004) Experiencing new forms of genetic choice: Findings from an ethnographic study of preimplantation genetic diagnosis. Hum Fertil 7:285–293CrossRefGoogle Scholar
  39. 39.
    Krahn T (2000) Preimplantation genetic diagnosis: does age of onset matter (anymore)? Med Health Care Philos 12:187–202CrossRefGoogle Scholar
  40. 40.
    Robertson JA (2003) Extending preimplantation genetic diagnosis: the ethical debate ethical issues in new uses of preimplantation genetic diagnosis. Hum Reprod 18:465–471CrossRefPubMedGoogle Scholar
  41. 41.
    Melville A (2008) Patients’ attitudes to the use of preimplantation genetic diagnosis for familial adenomatous polyposis. MSc Dissertation, University of ManchesterGoogle Scholar
  42. 42.
    Musgrave H (2008) Patients’ attitudes to the use of preimplantation genetic diagnosis for hereditary non-polyposis colorectal cancer. MSc Dissertation, University of ManchesterGoogle Scholar
  43. 43.
    Evans G, Baildam A, Brain A et al (2009) Risk reducing mastectomy: outcomes in 10 European Centres. J Med Genet 46:254–258CrossRefPubMedGoogle Scholar
  44. 44.
    Metcalfe KA, Birenbaum-Carmeli D, Lubinski J et al, The Hereditary Breast Cancer Clinical Study Group (2008) International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. Int J Cancer 122:2017–2022Google Scholar
  45. 45.
    de Wert G (1998) Ethics of predictive DNA-testing for hereditary breast and ovarian cancer. Patient Educ Couns 35:43–52CrossRefPubMedGoogle Scholar
  46. 46.
    Menon U, Harper J, Sharma A et al (2007) Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Hum Reprod 22:1573–1577CrossRefPubMedGoogle Scholar
  47. 47.
    Staton AD, Kurian AW, Cobb K et al (2008) Cancer risk reduction and reproductive concerns in female BRCA1/2 mutation carriers. Fam Cancer 7:179–186CrossRefPubMedGoogle Scholar
  48. 48.
    Quinn G, Vadaparampil S, Wilson C et al (2009) Attitudes of high-risk women toward preimplantation genetic diagnosis. Fertil Steril 91:2361–2368CrossRefPubMedGoogle Scholar
  49. 49.
    Fortuny D, Balmaña J, Graña B et al (2009) Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort. Hum Reprod 24:1000–1006CrossRefPubMedGoogle Scholar
  50. 50.
    Williams C, Ehrich K, Farsides B et al (2007) Facilitating choice, framing choice: staff views on widening the scope of preimplantation genetic diagnosis in the UK. Socl Sci Med 65:1094–1105CrossRefGoogle Scholar
  51. 51.
    Scott R, Williams C, Ehrich K et al (2007) The appropriate extent of pre-implantation genetic diagnosis: health professionals’ and scientists’ views on the requirement for a significant risk of a serious genetic condition. Med Law Rev 15:320–356CrossRefPubMedGoogle Scholar
  52. 52.
    International Huntington Association and World Federation of Neurology Research Group on Huntington’s disease (1994) Guidelines for the molecular genetics predictive test in Huntington’s disease. J Med Genet 31:555–559CrossRefGoogle Scholar
  53. 53.
    Bloch M, Hayden MR (1990) Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet 46:1–4PubMedGoogle Scholar
  54. 54.
    Working Party of the Clinical Genetics Society (1994) Report on the genetic testing of children. J Med Genet 31:785–797CrossRefGoogle Scholar
  55. 55.
    The American Society of Human Genetics Board of Directors, The American College of Medical Genetics Board of Directors (1995) Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 57:1233–1241Google Scholar
  56. 56.
    American College of Obstetricians, Gynecologists (2008) Committee opinion no. 410: ethical issues in genetic testing. Obstet Gynecol 111:1495–1502Google Scholar
  57. 57.
    Feinberg J (1980) The child’s right to an open future. In: Aiken W, La Fallette H (eds) Whose child? Children’s rights, parental authority and state power. Littlefield Adams, TotowaGoogle Scholar
  58. 58.
    Davis DS (1997) Genetic dilemmas and the child’s right to an open future. Hastings Cent Rep 27:7–15PubMedGoogle Scholar
  59. 59.
    Thornhill AR, de Die-Smulders CE, Geraedts JP et al (2005) ESHRE PGD consortium best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 20:35–48CrossRefPubMedGoogle Scholar
  60. 60.
    HFEA (2008) Human fertilisation and embryology authority code of practice, 8th edn (consultation draft). pp 82–83 Available at http://www.hfea.gov.uk/docs/2008_11_12_CoP8_Code_for_consultation_final_for_website1.pdf cited 01/02/09
  61. 61.
    Goossens V, Harton G, Moutou C et al. (2008) ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006 Hum. Reprod 23:2629–2645 Supplementary Table IVc: List of indications under “others” for monogenic diseases with PCR, data VIII http://humrep.oxfordjournals.org/cgi/data/den238/DC1/1 cited 06/06/09
  62. 62.
    Goossens V, Harton G, Moutou C et al. (2009) ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007 Hum. Reprod Advance Access April 29, 2009; doi: doi:10.1093/humrep/dep059 Supplementary Table IVc: List of indications under “others” for monogenic diseases, data IX http://humrep.oxfordjournals.org/cgi/data/dep059/DC1/3 cited 06/06/09
  63. 63.
    Clarke A (1991) Is non-directive genetic counselling possible? Lancet 335:1145–1147CrossRefGoogle Scholar
  64. 64.
    Sorenson JR (1993) Genetic counseling: values that have mattered. In: Bartels DM, LeRoy BS, Caplan AL (eds) Prescribing our future. Aldine de Gruyter, New YorkGoogle Scholar
  65. 65.
    Resta RG (1997) Eugenics and nondirectiveness in genetic counseling. J Genet Couns 6:255–258CrossRefPubMedGoogle Scholar
  66. 66.
    Kessler S (1997) Psychological aspects of genetic counseling. XI. Nondirectiveness revisited. Am J Med Genet 72:164–171CrossRefPubMedGoogle Scholar
  67. 67.
    American Society of Human Genetics Ad Hoc Committee on Genetic Counseling (1975) Genetic counseling. Am J Hum Genet 27:240–242Google Scholar
  68. 68.
    Veatch RM (1972) Models for ethical medicine in a revolutionary age. What physician–patient roles foster the most ethical relationship? Hastings Cent Rep 2:5–7PubMedGoogle Scholar
  69. 69.
    Parker M (2001) Genetics and the interpersonal elaboration of ethics. Theor Med 22:451–459CrossRefGoogle Scholar
  70. 70.
    Lehmann LS, Weeks JC, Klar N et al (2000) Disclosure of familial genetic information: perceptions of the duty to inform. Am J Med 109:705–711CrossRefPubMedGoogle Scholar
  71. 71.
    Claes E, Evers-Kiebooms G, Boogaerts A et al (2003) Communication with close and distant relatives in the context of hereditary breast and ovarian cancer in cancer patients. Am J Med Genet 116A:11–19CrossRefPubMedGoogle Scholar
  72. 72.
    Hallowell N, Foster C, Eeles R et al (2003) Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 29:74–83CrossRefPubMedGoogle Scholar
  73. 73.
    Plantinga L, Natowicz MR, Kass NE et al (2003) Disclosure, confidentiality and families: experiences and attitudes of those with genetic versus nongenetic medical conditions. Am J Med Genet 119C:51–59CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  1. 1.Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation TrustSt Mary’s HospitalManchesterUK

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