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'

Medical Law Review

Volumn 15, Issue 3, 2007, Pages 320-356

  Scott, Rosamund ^a,b   Williams, Clare ^a,b   Ehrich, Kathryn ^a,b   Farsides, Bobbie ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; DECISION MAKING; ETHICS; FEMALE; FERTILIZATION IN VITRO; GENETIC DISORDER; GENETIC PREDISPOSITION; HEALTH PERSONNEL ATTITUDE; HUMAN; INTERVIEW; PARENT; PREGNANCY; PRENATAL DIAGNOSIS; PSYCHOLOGICAL ASPECT; SICKNESS IMPACT PROFILE; STANDARD; UNITED KINGDOM;

ATTITUDE OF HEALTH PERSONNEL; CYTOGENETIC ANALYSIS; DECISION MAKING; FEMALE; FERTILIZATION IN VITRO; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HUMANS; INTERVIEWS AS TOPIC; PARENTS; PREGNANCY; PREIMPLANTATION DIAGNOSIS; SICKNESS IMPACT PROFILE;

EID: 35448948416     PISSN: 09670742     EISSN: 14643790     Source Type: Journal    
DOI: 10.1093/medlaw/fwm010     Document Type: Article

References (123)

1. HFEA and HGC, Outcome of the Public Consultation on Preimplantation Genetic Diagnosis, 18 June 2001, Rec. 11.
2. Supra n. 1.
3. HFEA, Code of Practice, 6th Edn., (2003).
4. The relevant part of s.1(1)(1) of the Act reads: 'Subject to the provisions of this section, a person shall not be guilty of an offence under the law relating to abortion when a pregnancy is terminated by a registered medical practitioner if two registered medical practitioners are of the opinion, formed in good faith... (d) that there is a substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be seriously handicapped'.
5. Supra n. 1. The reference to the 'precautionary principle' is in para. 25.
6. Supra n. 1, para. 32 and Rec. 13, our emphases. Para. 34 addresses the issue of information provision, especially the need for balanced information that includes 'that provided by disabled people and their families', an issue to which we return later.
7. Ibid. para. 21. This paragraph is concerned with the relevance of RGOG guidance on termination of pregnancy, to which we return in due course.
8. HFEA/HGC, Minutes of Joint Working Party on Preimplantation Genetic Diagnosis, 30 March 2001, para. 5.4.
9. Ibid. para. 5.11.
10. HFEA/HGC, Minutes of Joint Working Party on Preimplantation Genetic Diagnosis, 11 May 2001, para. 5.15, our emphasis.
11. HGC, Minutes of Genetic Testing Sub-group, 12 Jan. 2001, para. 5.4, per Dr Flinter, our emphases.
12. Supra n. 1. The recommendation goes on to state that 'information provided to those seeking treatment... should include genetic and clinical information about the specific condition; its likely impact on those affected and their families; information about treatment and social support available; and the testimony of families and individuals about the full range of experiences of living with the condition'. Curiously, a somewhat puzzling variation of the point in Rec. 14 can be found in the Summary of the Responses to the Consultation Document, which at one point observes that '80% agreed that the seriousness of a genetic condition should be a matter of clinical judgment based on general guidance'. HFEA/HGC, Analysis of the Responses to the Joint HFEA/AGCT Consultation on PGD, para. 56(iv).
13. Offences against the Person Act, 1861, ss. 58, 59.
14. HGC, Response to the Human Fertilisation and Embryology Authority on the Consultation on Preimplantation Genetic Diagnosis, para. 6.
15. Supra n. 1, para. 23.
16. Ethics Discussion Group (EDG) 1, Scientist 19, 6.
17. EDG 1, Scientist 19, 11.
18. EDG 3, Nurse 13, 8. For a detailed discussion of the staff's attitudes to embryos, see also K. Ehrich, C. Williams, B. Farsides, J. Sandall and R. Scott, 'Choosing Embryos: Ethical Complexity in Staff accounts of Preimimplantation Genetic Diagnosis', (2007) Sociology of Health and Illness (forthcoming).
19. EDG 5, Scientist 2, 19.
20. EDG 2, Counsellor 28, 13-14.
21. RCOG, Termination of Pregnancy for Fetal Abnormality in England, Wales and Scotland (RCOG Press, Jan. 1996) at para. 3.4. The guidance continues: 'After 24 weeks the grounds for abortion for mental health are more stringent; the continuation of the pregnancy must result in grave permanent damage to mental health. Such damage to mental health is unlikely to result from a woman's concern about a fetal abnormality that her doctors do not consider serious enough to satisfy the law. In effect this means that after 24 weeks the abortion decision must be based only on the anticipated risk that the child would be seriously handicapped'.
22. EDG 2, Counsellor 28, 13.
23. Ibid. 14.
24. Supra n. 1, para. 23.
25. On the approval of medical discretion generally in the application of the Act, see Hansard, 21 June 1990, vol. 174, col. 1156, per Mrs Maria Fyfe: 'If the law sets parameters that do not allow medical judgments to be freely exercised, it must be defective'.
26. Supra n. 1, para. 37.
27. Ibid., our emphasis. See also HFEA, supra n. 3, para. 14.23.
28. EDG 1, Doctor 24, 7.
29. Our emphasis.
30. EDG 3, Counsellor 18, 15.
31. EDG 3, Counsellor 18, 23.
32. EDG 5, Embryologist 33, 19.
33. EDG 5, Scientist 2, 19.
34. EDG 3, Nurse 13, 24.
35. EDG 4, Doctor 11, 27.
36. 'The classical form of Tay-Sachs disease (TSD) is a fatal genetic disorder in children that causes progressive destruction of the central nervous system... By about two years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, losing skills one by one, and is eventually unable to crawl, turn over, sit, or reach out. Other symptoms include increasing loss of coordination, progressive inability to swallow and breathing difficulties. Eventually, the child becomes blind, mentally retarded, paralyzed, and non-responsive to his or her environment. To date, there is no cure or effective treatment for TSD'. National Tay-Sachs and Allied Diseases Association, Inc. http://www.ntsad.org/pages/ t-sachs.html.
37. S. Sheldon and S. Wilkinson, 'Termination of Pregnancy for Reason of Foetal Disability: Are there Grounds for a Special Exception in Law?', (2001) 9 Med. L. Rev. 85, 88ff.
38. A second rationale for the disability ground of the Abortion Act discussed and ultimately rejected by Sheldon and Wilkinson is the so-called "replacement argument". Ibid. 93ff.
39. For a compatible analysis, see, e.g. A. Buchanan, D. Brock, N. Daniels and D. Wikler, From Chance to Choice: Genetics and Justice (Cambridge University Press, 2000) at 235.
40. See e.g. A. Buchanan et al., supra n. 37, ibid.
41. As Sheldon and Wilkinson note, however, such a claim has not been recognised in English law. Sheldon and Wilkinson, supra n. 37, 89, and referring to McKay v. Essex A.H.A. [1982] 2 W.L.R. 890.
42. S. Sheldon and S. Wilkinson, supra n. 37, 99ff.
43. 'The legal objection to this argument, originally explored by Derek Morgan (D. Morgan, 'Abortion: The Unexamined Ground' [1990] Crim. L.R. 687, 692) is that a 'parental interests' interpretation of s.1(1)(d) of the Act would essentially repeat s.1(1)(a) of the Act, making s.1(1)(d) redundant. Sheldon and Wilkinson observe that, from an ethical viewpoint, it may simply be that there is more than one justification for this section. From the viewpoint of statutory interpretation, however, they suggest that 'there are some grounds for questioning' whether Parliament can have intended that s.1(1)(d) should protect parents' interests. S.1(1)(d) can never be entirely redundant in that, unlike s.1(1)(a), it allows terminations up until birth. Apart from this point and more fundamentally, it may be that as a society we have not necessarily been honest about whose interests the disability section of the Act is capable of protecting: It is to some degree taboo to say that parents have an interest in choosing to accept or avoid the birth of an impaired child and those debating the Act in Parliament may well have sensed this.
44. For discussion of relevant wrongful birth case law (and interpretation of the disability ground of the Abortion Act generally), see R. Scott, 'Interpreting the Disability Ground of the Abortion Act', (2005) 64/1 C.L.J. 388.
45. EDG 2, Scientist 21, 3-4, our emphases.
46. EDG 2, Scientist 21, 2.
47. EDG 2, Scientist 8, 5.
48. Ibid. 14.
49. EDG 4, Doctor 11, 24.
50. EDG 4, Counsellor 17, 24.
51. B. Farsides, EDG 4, 28.
52. Interview, Embryologist 15, 2.
53. EDG 5, Scientist 2, 27.
54. E.g. in EDG 1, 2 and 5. The issue was also referred to by various members of staff in interview, e.g. Scientist 2, Doctor 6 and Embryologist 15.
55. The reference to interests is used loosely, since it may be argued that the embryo has none until it acquires them at sentience. On the link between interests and sentience, see B. Steinbock, Life Before Birth (New York: Oxford University Press, 1992) at 24, n. 24.
56. On the notion of interests, see J. Feinberg, Harm to Others (New York: Oxford University Press, 1984) at 34: 'In general, a person has a stake in X... when he stands to gain or lose depending on the nature or condition of X'.
57. EDG 3, Doctor 32, 18.
58. J. Glover, Choosing Children: Genes, Disability and Design (Oxford: Oxford University Press, 2006) at 9.
59. Ibid. 22.
60. Ibid. 22-23.
61. Ibid. 60.
62. 'Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease - the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors - characterized by lip and finger biting - that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.... The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life'. National Institute of Neurological Disorders and Stoke, http://www.ninds.nih.gov/disorders/ lesch_nyhan/lesch_nyhan.html.
63. EDG 2, Scientist 8, 48.
64. EDG 3, Doctor 32, 19.
65. EDG 2, Scientist 8, 4. 'Epidermolysis bullosa (EB) is the name given to a group of genetic disorders that lead to fragile skin. This fragility leads to blistering and shearing of the skin as a response to friction and everyday knocks and bumps.... There are three major types of EB, but the general symptoms in all forms of EB are skin fragility and blistering. In some types the internal linings of the body can be affected, as well as the cornea of the eye. Healing with scarring seen in some forms of EB can also lead to worsening disability. Within each type there are sub-groups with a huge variety of symptoms and prognosis'. N.H.S. Direct Health Encyclopaedia, 'Epidermolysis bullosa', http://www.nhsdirect.nhs.uk/articles/article.aspx?articleId 560&PrintPage=1.
66. Interview, Scientist 21, 13.
67. Interview, Scientist 19, 4.
68. Interview, Doctor 24, 5.
69. B. Farsides, EDG 4, 32.
70. Interview, Doctor 20, 20.
71. E.g. EDG 5, Scientist 2; and in interview Scientist 8, 5, 17.
72. Supra n. 1, para. 32 and Rec. 13. Para. 34 addresses the issue of information provision, especially the need for balanced information, which includes 'that provided by disabled people and their families', an issue to which we return later.
73. Supra n. 3.
74. Interview, Doctor 6, 13.
75. Interview, Scientist 21, 23-24.
76. EDG 5, Embryologist 33, 33-34.
77. Ibid. Scientist 2.
78. EDG 2, Scientist 8, 14-15.
79. EDG 2, Counsellor 28, 14-15, part cited above.
80. EDG 1, Doctor 24, 13.
81. E.g. A. Buchanan et al., supra n. 37
82. J. Robertson, 'Genetic Selection of Offspring Characteristics', (1996) 76 Boston University Law Review 421
83. B. Steinbock, 'Disability, Prenatal Testing and Selective Abortion', in E. Parens and A. Asch (eds), Prenatal Testing and Disability Rights (Georgetown University Press, 2000) 108
84. J. Botkin, 'Line Drawing: Developing Professional Standards for Prenatal Diagnostic Services', in E. Parens and A. Asch, ibid. 288.
85. See e.g. T. Shakespeare, 'Choices and Rights: Eugenics, Genetics and Disability Equality', (1998) 13/5 Disability and Society 665, 672.
86. T. Shakespeare, "Losing the Plot?' Medical and Activist Discourses of Contemporary Genetics and Disability', (1999) 21/5 Sociology of Health and Illness 669, 681.
87. T. Shakespeare, supra n. 77, 672.
88. Scientist 9 raises the issue of PGD for Down syndrome in addition to testing for other conditions. Scientist 3 mentions Down syndrome, but this is simply in connection with analysing amniocentesis results. Administrator 12 comments on whether people necessarily abort a foetus with Down syndrome. Counsellor 17 raises the issue of adding in PGD for Down syndrome in relation to concerns about decreasing the accuracy of test results. Scientist 21 discusses Down syndrome and PGD for Down syndrome, although the interviewer was the first to mention the issue. Doctor 6 responded to a question about Down syndrome by the interviewer; Doctor 24 responded to two such questions; Nurse 25 responds to a question about Down syndrome in connection with PGD.
89. B. Farsides, EDG 2, 5.
90. EDG 2, Scientist 8, 5.
91. Examples of staff in favour of a gradualist approach to the embryo's and foetus's moral status were Scientist 8, 4, and Embryologist 15, 16; an example of a member of staff who attributed a high moral status to the embryo was Scientist 2, 15-16. We do not attempt here to represent the proportion of staff with given views.
92. In contrast, even the embryo has the moral status of a born child on a potentiality account. For an adherent, see J. Finnis, 'The Rights and Wrongs of Abortion: A Reply to Judith Thomson', (1973) 2 Philosophy and Public Affairs 117.
93. T. Shakespeare, Supra n. 78, 685.
94. See C. Williams, P. Alderson and B. Farsides, 'What Constitutes 'Balanced Information in the Practitioners' Portrayals of Down's Syndrome?', (2002) 18 Midwifery 230.
95. EDG 2, Scientist 8, 14-15.
96. EDG 1, Counsellor 10, 29.
97. On Down syndrome, see the Down's Syndrome Association, at http://www.downs-syndrome.org.uk.
98. EDG 3, Doctor 32, 26.
99. See e.g. J. Harris, 'Is There a Coherent Social Conception of Disability?', (2000) 26 J.M.E. 95.
100. Our emphasis.
101. See e.g. T. Shakespeare, supra n. 77.
102. E.g. J. Harris and T. Shakespeare, supra n. 91 and 77.
103. J. Glover, supra n. 53, pp. 7-8.
104. See e.g. T. Shakespeare, supra n. 77.
105. The HFE Act, s.13(5) states: 'A woman shall not be provided with treatment services unless account has been taken of the welfare of any child who may be born as a result of the treatment (including the need of that child for a father), and of any other child who may be affected by the birth'.
106. Interview, Nurse 4, 8.
107. Interview, Doctor 6, 4.
108. Interview, Counsellor 17, 18-19.
109. See HFEA, Choices and Boundaries (Nov. 2005);
110. HFEA, 'Authority Decision on the Use of PGD for Lower Penetrance, Later Onset Inherited Conditions' (10 May 2006).
111. EDG 5, Scientist 34, 25.
112. EDG 3, Doctor 32, 19, partly noted earlier.
113. Interview, Nurse 4, 7-8.
114. Interview, Scientist 8, 2.
115. Interview, Embryologist 15, 2.
116. Interview, Doctor 14, 8.
117. HFEA licence committees are of course a further possible check. However, it is likely that if a clinic supports an application for PGD, the licence committee will usually agree.
118. ibid and Supra n. 10.
119. Interview, Scientist 21, 27.
120. The possibility of testing for Down syndrome, as an addition, was the subject of discussion at the clinic.
121. EDG 2, Scientist 8, 19.
122. Interview, Doctor 14, 2. The interviewer was K. Ehrich.
123. Interview, Scientist 9, 7. The interviewer was K. Ehrich.