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Requiring genetic knowledge: a principled case for support

Published online by Cambridge University Press:  02 January 2018

Victoria Chico
Victoria Chico*
Affiliation:
The University of Sheffield
*
Victoria Chico, School of Law, Bartolomé House, The University of Sheffield, Winter Street, Sheffield S3 7ND, UK. Email: [email protected]
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Abstract

Should people be required to know information about themselves that arises from their genetic test? This question is highly relevant given the NHS's plans to sequence 100,000 whole genomes before 2017. The approach to this issue in the USA generated significant opposition to requiring knowledge, on the basis that it interferes with autonomy. This piece presents a different perspective, arguing that requiring knowledge may not undermine the legal conception of autonomy, giving reason to doubt that it would be unlawful to require people to have genetic information about themselves. Following this, the piece presents an alternative principled position that might support a legal recognition of the interest in not having information about oneself; namely that of preventing personal harm. However, this approach runs into difficulties if the reasons for requiring knowledge are also based on preventing personal harm. The argument considers how interests might be balanced in this competing harms context.

Type
Research Article
Information
Legal Studies , Volume 35 , Issue 3 , September 2015 , pp. 532 - 550
Copyright
Copyright © Society of Legal Scholars 2015 

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Footnotes

*

I am extremely grateful to Dr Mark Taylor, Professor Aurora Plomer and the two anonymous reviewers for their comments, which have enabled me to improve this work.

References

1. On the Genomics England website, Sir Mark Caulfield, Chief Scientist to the project, claims that ‘the work of GeL could be to transform the NHS provision of diagnostic tests and then care to a whole range of patients. This could … achieve earlier diagnosis and more effective intervention for patients most at risk from developing very serious illnesses.’ See http://www.genomicsengland.co.uk/prof-mark-caulfield-reflects-on-the-impact-the-100k-genome-project-could-have-on-the-nhs/ (accessed 16 July 2014).

2. Many possible examples could be posed that are not limited to cancer.

3. There is also significant uncertainty about how we should manage disclosure to the tested person's relatives. See my forthcoming empirical work on this issue: T Heaton and V Chico ‘Attitudes towards the sharing of genetic information with at-risk relatives: Bayesian ordinal regression with random effects’.

4. See the following projects: Deciphering Developmental Disorders (DDD) study, http://www.ddduk.org/ (accessed 17 September 2014); Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED) Study, University of Cambridge, http://bioresource.nihr.ac.uk/rare-diseases/study-specialist-pathology-evaluating-exomes-in-diagnostics/ (accessed 23 April 2014). Whole exome sequencing refers to the technique that selectively sequences the protein coding regions of the genome.

5. Green, RC et al ‘Acmg recommendations for reporting of incidental findings in clinical exome and genome sequencing’ (2013) 15 Genet Med 565–574 at 567.CrossRefGoogle ScholarPubMed

6. Ibid, at 568.

7. See https://www.acmg.net/docs/Release_ACMGUpdatesRecommendations_final.pdf (accessed 27 May 2014).

8. Green et al, above n 5, at 568.

9. Or for that matter what it considered the potential harms to be. Did these solely concern not being able to access treatment for the particular genetic condition? Or also not being able to minimise related risks that other treatments might pose for someone with that (asymptomatic) genetic condition? See below for a discussion of these two types of harm.

10. See eg Allyse, M and Michie, M ‘Not-so-incidental findings: the Acmg recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing’ (2013) 8 Trends Biotechnol 439–441;CrossRefGoogle Scholar Wolf, SM, Annas, GJ and Elias, S ‘Respecting patient autonomy in clinical genomics: new recommendations on incidental findings go astray’ (2013) 340 Science 1049–1050;CrossRefGoogle Scholar Burke, W et al ‘Recommendations for returning genomic incidental findings? We need to talk!’ (2013) 15 Genet Med 854–859;CrossRefGoogle Scholar Townsend, A et al ‘Paternalism and the Acmg recommendations on genomic incidental findings: patients seen but not heard’ (2013) 15 Genet Med 751–752.CrossRefGoogle Scholar

11. Above n 10.

12. Personal conversation with Dr Ilse Feenstra, Clinical Geneticist at Radboud University Medical Centre, Nijmegen, The Netherlands. The consent form for exome sequencing in diagnostics at the Radboud University Nijmegen Medical Centre does not offer ‘an opt out possibility for feedback of unsolicited findings: if a patient does not want to be informed about relevant unsolicited findings, he/she is not eligible for the test’. Rigter, T et al ‘Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics’ (2013) 34 Human Mutation 1322–1328 at 1324.CrossRefGoogle ScholarPubMed

13. Above n 1.

14. The plans for care.data – a database of GP records – were delayed in February 2014 following a public backlash against the use of patient information. Tim Kelsey, NHS England National Director for Patients and Information, said ‘We paused it because there was this enormous outcry, and uncertainty about what was happening.’ L Donnelly The Telegraph 6 June 2014.

15. See participant information sheet for Molecular Genetic Analysis and Clinical Studies of Individuals and Families at Risk of Genetic Disease (MGAC), available at http://oxfordbrc.nihr.ac.uk/wp-content/uploads/2014/02/MGACPIS101213.pdf (accessed 27 May 2014).

16. See http://www.genomicsengland.co.uk/prof-mike-parker-says-no-ethical-issues-are-off-the-table-as-gel-considers-its-approach-to-patient-consent/ (accessed 4 June 2014).

17. Green et al, above n 5, at 568.

18. Ibid, at 568.

19. The ACMG recommends feedback relating to 24 conditions on the basis that they are ‘disorders where preventative measures and/or treatments are available’. Ibid, at 576. But see also above n 9.

20. Seventeen different types of cancer are listed. Some of these mutations cause multiple cancers such as Li–Fraumeni and Lynch syndromes, while others are linked with one or two cancers, such as breast, ovarian or bowel cancer.

21. Six largely cardiac conditions are listed. Five of these are cardiomyopathies and rhythm disturbances. I am including familial hypercholesterolaemia along with the cardiac disorders because of its implication in atherosclerotic heart disease.

22. Although the ACMG now offers the opportunity to opt out of receiving incidental findings, it still recommends disclosure in relation to the 24 conditions on the list on the basis of the ability of disclosure to prevent harm. See https://www.acmg.net/docs/Release_ACMGUpdatesRecommendations_final.pdf (accessed 16 July 2014).

23. Villani, A et al ‘Biochemical and imaging surveillance in germ line Tp53 mutation carriers with Li–Fraumeni syndrome: a prospective observational study’ (2011) 12 Lancet Oncol 559–567.CrossRefGoogle ScholarPubMed

24. Heidenriech, PA, Lee, TT and Massie, BM ‘Effect of beta-blockade on mortality in patients with heart failure: a meta-analysis of randomized clinical trials’ (1997) 30 J Am Coll Cardiol 27–34;Google Scholar Packer, M et al ‘Comparative effects of low and high doses of the angiotensin-converting enzyme inhibitor, Lisinopril, on morbidity and mortality in chronic heart failure. Atlas Study Group’ (1999) 100 Circulation 2312–2318.CrossRefGoogle ScholarPubMed

25. Maron, BJ ‘Hypertrophic cardiomyopathy’ (2002) 106 Circulation 2419–2421.CrossRefGoogle ScholarPubMed

26. Hereinafter I will refer to this conception of harm as ‘related risks’.

27. Some medical risks that might be relevant for people with genetic mutations on the ACMG minimum list are as follows. Pregnancy is a very high-risk state for people with Marfan syndrome, because the rise in blood pressure can trigger an aortic dissection. This information might be considered relevant in offering any assisted conception service. Patients with (asymptomatic) cardiomyopathy should avoid a number of drugs, such as some antidepressants, and common non-steroidal, anti-inflammatory drugs such as ibuprofen. These are contraindicated because they are associated with increased risk of death and cardiovascular morbidity. Gislason, GH et al ‘Increased mortality and cardiovascular morbidity associated with use of nonsteroidal anti-inflammatory drugs in chronic heart failure’ (2009) 169 Arch Intern Med 141–149.CrossRefGoogle ScholarPubMed

28. See eg Chester v Afshar [2005] 1 AC 134 for how failure to disclose relevant risks might interfere with autonomy. Another paper could be written considering how the law might respond to a patient's claim that their autonomy was interfered with when they weren't informed of a risk of treatment, where information about that risk arose in their WGS but eventuated because their genetic mutation put them at an elevated risk in a related treatment. Of course the patient refused to know about the risk, but there is no evidence that a patient's refusal to know about the risk will protect a clinician who does not disclose relevant risks in a negligence action.

29. It is possible to argue that their choice has been removed, but that argument is not one that is made in this paper.

30. Koch, L ‘Ivf – an irrational choice?’ (1990) 3 Issues Reproduct Genet Engng: J Int'l Feminist Analysis 235–242.Google Scholar

31. See below for a detailed discussion of predictions of refusal of medical treatment.

32. Mental Capacity Act 2005 s 1 (4).

33. Although knowledge of relevant risks is an important aspect of legal autonomy in consent to medical treatment – see, in particular, Chester v Afshar [2005] 1 AC 134 – if a patient demands treatment that their doctor does not want to provide because they consider it too risky, the law does not recognise a person's autonomy to have been breached where their demand for treatment is overridden. See eg Re J (A Minor) (Wardship: Medical Treatment) [1990] 3 ALL ER 930; R v Cambridge Health Authority ex p B [1995] 2 ALL ER 129. Given that, in the law, there is a clear distinction between how not respecting refusals and demands for treatment might interfere with patient autonomy, this part of the discussion focuses on refusal of treatment.

34. The law regularly allows refusals of treatment on the basis of autonomy: Re B (Consent to Treatment: Capacity) [2002] 1 FLR 1090; St Georges Healthcare NHS Trust v S [1999] Fam. 26; Re C (Adult: Refusal of Treatment) [1994] 1 WLR 290.

35. Beauchamp, T and Childress, J Principles of Biomedical Ethics (New York: Oxford University Press, 4th edn, 1994).Google Scholar

36. Holm, S ‘Not just autonomy – the principles of American biomedical ethics’ (1995) 21 J Med Ethics 332–338. For a similar critique, seeCrossRefGoogle ScholarPubMed Danner Clouser, K and Gert, B ‘a critique of principalism’ (1990) 15 J Med & Phil 219–236.CrossRefGoogle Scholar

37. See, in particular, Chester v Afshar [2005] 1 AC 134 and Re B (Consent to Treatment: Capacity) [2002] 1 FLR 1090.

38. Above n 34. However, there are many who criticise this. See eg Foster, C Choosing Life, Choosing Death: The Tyranny of Autonomy in Medical Ethics and Law (Oxford: Hart Publishing, 2009).Google Scholar

39. Nietzsche, F On the Genealogy of Morals tr W Kaufmann and RJ Hollingdale in On the Genealogy of Morals and Ecce Homo (New York: Random House, 1967);Google Scholar Dworkin, G The Theory and Practice of Autonomy (Cambridge: Cambridge University Press, 1988);CrossRefGoogle Scholar Berlin, I ‘Two concepts of liberty’ in Four Essays on Liberty (London: Oxford University Press, 1969);Google Scholar Gaus, GF ‘The place of autonomy within liberalism’ in Christman, J and Anderson, J (eds) Autonomy and the Challenges to Liberalism (Cambridge: Cambridge University Press, 2005).Google Scholar

40. Donnelly, M Healthcare Decision-Making and the Law (Cambridge: Cambridge University Press, 2010) p 89.CrossRefGoogle Scholar

41. Ibid, p 2.

42. Re T (Adult: Refusal of Treatment) [1993] Fam. 95 Lord Donaldson at 102.

43. Re B (Consent to Treatment: Capacity) [2002] 2 FLR 1090; Chester v Afshar [2005] 1 AC 134; Birch v University College London Hospital NHS Foundation Trust [2008] EWHC 2237 (QB).

44. In some cases, the patient's capacity has been questioned with little clear basis. See, in particular, Re B (Consent to Treatment: Capacity) [2002] 1 FLR 1090; St Georges Healthcare NHS Trust v S [1999] Fam. 26; Re C (Adult: Refusal of Treatment) [1994] 1 WLR 290; Re W (Adult: Refusal of Treatment) [2002] EWHC 901. I am very grateful to the insightful anonymous reviewer who helpfully pointed out that the MCA's main interest is truncated capacity/autonomy, which might reduce the authority with which it can speak about untruncated autonomy, thereby leading me to also consider judicial treatment of the clearly capacitated.

45. MCA 2005 s 1 (4).

46. Dworkin, G ‘Autonomy and behaviour control’ (1976) 6 Hastings Center Rep 23.CrossRefGoogle Scholar

47. Ibid, at 27 (my emphasis).

48. Grubb, A ‘Refusal of treatment (child): competence Re L (Medical Treatment: Gillick Competency) ’ (1999) 7 Med L Rev 58–61.Google Scholar

49. Re L (Medical Treatment: Gillick Competency) [1999] 2 FCR 524 at 526.

50. Ibid, at 527.

51. Chester v Afshar [2004] UKHL 41 Lord Steyn at 18.

52. Ibid, Lord Steyn at 24. Furthermore, the English courts have recently held that patients who are not given adequate information about possible alternative treatments will not have sufficient information to make an autonomous choice. See Birch v University College London Hospital NHS Foundation Trust [2008] EWHC 2237 (QB).

53. MCA 2005 s 3 (1) (a), (b) and (c). The provisions of the MCA 2005 do not only relate to the ability to make decisions about medical treatment. The Act covers decision making in a wider context, including any decisions that relate to a person's welfare or property and affairs: s 16 (1) (a) and (b).

54. Harris, J and Keywood, K ‘Ignorance, information and autonomy’ (2001) 22 Theoret Med 415–436 at 418.Google ScholarPubMed

55. Ibid, at 418.

56. There is significant authority in English law that the patient has a right to know information relevant to their medical treatment. In Sidaway v Board of Governors of the Bethlem Royal Hospital and the Maudsley Hospital [1985] AC 871, the House of Lords felt that disclosing the risks of medical treatment is part of the doctor's ordinary duty of care. In recent years there has been a move towards a more patient-centred assessment of the content of the doctor's duty to provide information. However, there is no similar legal duty not to disclose information that the patient does not want.

57. Harris and Keywood, above n 54; Rhodes, R ‘Genetic links, family ties, and social bonds: rights and responsibilities in the face of genetic knowledge’ 23 (1998) J Med & Phil 10–30.CrossRefGoogle ScholarPubMed

58. Harris and Keywood, above n 54, at 419–420.

59. Ibid, at 419–420.

60. Ibid, at 419–420.

61. See eg Laurie, G Genetic Privacy: A Challenge to Medico-Legal Norms (Cambridge: Cambridge University Press, 2002).CrossRefGoogle Scholar

62. Re B (Consent to Treatment: Capacity) [2002] 2 FLR 1090, for supportive comment, see also Airedale NHS Trust v Bland [1993] AC 789 Lord Keith at 857 and Lord Browne-Wilkinson at 882.

63. Green et al, above n 5, at 568. This is also the approach taken in relation to clinical exome sequencing at the Radboud University Nijmegen Medical Centre. Above n 12.

64. This approach is not without problems, especially in the clinical context. But this argument is not considered here.

65. Green et al, above n 5, at 568.

66. In the legal sense at least.

67. The argument here is, of course, that there is significant doubt about whether it does.

68. For the conditions on the ACMG list, the presence of the genetic mutation still leaves significant uncertainty as to whether the condition will manifest. For example, 55–65% of women who inherit a harmful BRCA1 mutation and 45% of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70: see http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA (accessed 18 July 2014).

69. Green et al, above n 5, at 586.

70. That is, would we want to prevent risky pregnancy?

71. Wilson, TD et al ‘A source of durability bias in affective forecasting’ (2000) 78 J Personality & Soc Psychol 821–836;CrossRefGoogle ScholarPubMed Gilbert, DT et al ‘Immune neglect: a source of durability bias in affective forecasting’ (1998) 75 J Personality & Soc Psychol 617–638;CrossRefGoogle ScholarPubMed Wilson, TD and Gilbert, DT ‘Affective forecasting: knowing what to want’ (2005) 14 Current Directions Psychol Sci 131–134.CrossRefGoogle Scholar

72. Blumenthal, JA ‘Law and the emotions: the problems of affective forecasting’ (2004) 80 Ind L J 155–238 at 166.Google Scholar

73. Rhodes, R and Strain, JJ ‘Affective forecasting and its implications for medical ethics’ (2008) 17 Camb Q Healthcare Ethics 54–65 at 55.CrossRefGoogle ScholarPubMed

74. Ibid, at 166.

75. Wilson et al, above n 71.

76. Brickman, P, Coates, D and Janoff-Bulman, R ‘Lottery winners and accident victims: is happiness relative?’ (1978) 36 J Personality & Soc Psychol 917–927.CrossRefGoogle ScholarPubMed

77. Sieff, EM, Dawes, RM and Loewenstein, G ‘Anticipated versus actual reaction to Hiv test results’ (1999) 112 Am J Psychol 297–311.CrossRefGoogle ScholarPubMed

78. Mellers, BA ‘Choice and relative pleasure of consequences’ (2000) 126 Psychol Bull 910–924.CrossRefGoogle ScholarPubMed

79. For a more detailed account of the psychological immune system, see Blumenthal, above n 72, at 175–176; Gilbert, DT, Driver-Linn, E and Wilson, TD ‘The trouble with Vronsky: impact bias in the forecasting of future affective states’ in Barrett, LF and Salovey, P (eds) The Wisdom in Feeling: Psychological Processes in Emotional Intelligence (New York: Guilford Press, 2002) pp 114–143.Google Scholar

80. Alcock v Chief Constable of South Yorkshire Police [1992] 1 AC 310, Stocker LJ at 365.

81. Craufurd, D et al ‘Uptake of pre-symptomatic predictive testing for Huntington's disease (letter)’ (1989) 2 Lancet 603–605;CrossRefGoogle Scholar Evers-Kiebooms, G and Decruyenaere, M ‘Predictive testing for Huntington's disease: a challenge for persons at risk and for professionals’ (1998) 5 Patient Educ & Counselling 15–26;CrossRefGoogle Scholar Hayden, MR ‘Predictive testing for Huntington's disease – 15 years later’, presentation during the International Congress of Human Genetics (Vienna, 15 May 2001);Google Scholar Quaid, KA and Morris, M ‘Reluctance to undergo predictive testing: the case of Huntington's disease’ (1993) 45 Am J Med 41–45;Google Scholar Tibben, A et al ‘Understanding the low uptake of pre-symptomatic Dna-testing for Huntington's disease (letter)’ (1992) 340 Lancet 1416.CrossRefGoogle Scholar

82. Above n 81.

83. This mutation is on the ACMG's recommended feedback list.

84. Schmid, M et al ‘Tomophobia, the phobic fear caused by an invasive medical procedure – an emerging anxiety disorder: a case report’ (2009) 3 J Med Case Reports 131;CrossRefGoogle ScholarPubMed Wise, TN, Marcangelo, MJ and Anderson, DL ‘Anxiety and anxiety disorders in medical settings’ in Stein, DJ, Hollander, E and Rothbaum, BO (eds) Textbook of Anxiety Disorders (Washington, DC: American Psychiatric Publishing, 2nd edn, 2009);Google Scholar Olatunji, BO et al ‘Development and initial validation of the medical fear survey – short version’ (2012) 19 Assessment 318–336.CrossRefGoogle ScholarPubMed

85. Above n 79.

86. Stark, Dph and House, A ‘Anxiety in cancer patients’ (2000) 83 Br J Cancer 1261–1267 at 1265;CrossRefGoogle ScholarPubMed Lowry, M ‘Knowledge that reduces anxiety’ (1995) 10 Prof Nurse 318–320.Google ScholarPubMed

87. Blumenthal, above n 72, at 166.