The duty to keep oneself genetically informed versus the right to genetic ignorance

1. The duty to keep oneself genetically informed versus the right to genetic ignorance Jan Helge Solbakk Section for Medical Ethics Faculty of Medicine University of Oslo

2. Two preliminary questions: Question 1: Who in this room would like to be called a spiritual child of Socrates?

3. Question 2: Who would instead prefer the  comparison with an ostrich?

4. �Human beings have a schizophrenic attitude to information. On the one hand many believe, with Socrates, that the unexamined life is not worth living and put a high premium on self-awareness and self-knowledge. Others, equally righteously, believe that ignorance is bliss and that the dreams of sleeping dogs should be untroubled by awkward facts. Socrates and the ostrich are the icons of these opposed viewpoints� (J. Harris, K. Keywood, �Ignorance, information and autonomy�, Theoretical Medicine, 22, 2001 (415-436), p. 415). 

5. Four substantial questions? Question 3: Who is in favor of a professional duty to respect confidentiality and genetic privacy?

6. Question 4:Why is it considered so important to respect confidentiality and privacy of a person under-going a genetic test?

7. First answer: It is important because it represents �...an important aspect of patient autonomy� (M. Parker, �Genetics and the interpersonal elaboration of ethics�, Theoretical Medicine, 22, 2001 (451-459), p. 452).

8. Second answer: It is important because it �...underpins trust in the doctor-patient relationship� (Parker, 2001, p. 452).

9. Question 5:Why is the duty to respect confidentiality and genetic privacy not absolute?

10. A case to illustrate some problematic implications of taking an absolute stand on confidentiality and genetic privacy (The case is originally presented in R.P. Lucassen, Practical Genetics for Primary Care, Oxford, 1999, p. 323. This reader has come across the case in M. Parker, �Genetics and the interpersonal elaboration of ethics�, Theoretical Medicine, 22, 2001 (451-459), p. 451-452) :

11. �A woman, Rachel, comes for an appointment at a clinical genetics unit following referral by her family doctor. Rachel was referred to the Unit because she had requested a �breast cancer gene test� and was aware of a very strong family history of the disease. Six close relatives had been diagnosed with this cancer at an early stage. Her only living affected relative was her grandmother, who had herself been a patient at the same genetics unit and had tested positive for one of the BRCA 1 mutations. The case was made more complicated when Rachel revealed that her mother, the grandmother�s daughter, was as far as Rachel known unaffected and had no contact with the genetics service. Rachel said that she no longer got on with her mother and would not want her to know that she had been tested. This presented a problem for the family doctor and for the geneticist. If a test was provided to Rachel and the result turned out to be positive, her mother would also be positive for the mutation. To carry out a test on the daughter would be to test the mother without knowledge and to do so in the context of a family in which relationships were already strained�.

12. Question 6:How should we proceed to resolve this dilemma?

13. Possible answer: One way to deal with it starts from a clarification of the underlying principle of autonomy.

14. A prevalent understanding of this principle in a Western liberal tradition originates from the English philosopher John Stuart Mill, and says that respect for a person�s autonomy requires that we let the person make decisions for and by himself, no matter how foolish we find these decisions to be - as long as they do not inflict unnecessary and avoidable harm upon innocent third parties or interfere with the same rights of third parties to pursue their own goods and decide for themselves (S. Vehmas, �Just ignore it? Parents and genetic information�, Theoretical Medicine 22, 2001, p. 473-474).

15. If we apply this understanding on the present dilemma, it seems to follow that Rachel�s right to autonomy and consequently the family doctor�s and geneticist�s duty to respect confidentiality and privacy by not letting Rachel�s mother know that Rachel had been tested cannot be defended, as this would lead to an infringement upon the mother�s same right to confidentiality, privacy and autonomous decision making. It would therefore not represent a breach of Rachel�s autonomy-rights to convey a positive test result to Rachel�s mother, while the mother�s rights to confidentiality, privacy and autonomous decision making could be negatively affected by adopting the opposite stand.

16. Two competing claims:

17. Claim 1: The claim that autonomy implies a duty to keep oneself genetically informed, even in situations where one cannot medically benefit from the knowledge.

18. Claim 2: The claim that the principle of autonomy lends support to a right to genetic ignorance.

19. The first argument supporting the claim that autonomous decision making implies a duty to keep oneself genetically informed is based on a notion of autonomy originating from the German philosopher Immanuel Kant, and reads as follows (For further details about this argument, see R. Rhodes, �Genetic links, family ties, and social bonds: rights and responsibilities in the face of genetic knowledge, Journal of Medicine and Philosophy, 1998; 23: 10-30. Her argument is paraphrased in S. Vehmas 2001, p. 473. In the present paper the presentation of this argument relies on Vehmas� account, and on the account of H�yry and Takala, in M. H�yry, T. Takala, �Genetic information, rights, and autonomy�, Theoretical Medicine, 22, 2001 (403-414), p. 411):

20. Since autonomy is a prerequisite for moral agency and autonomous choices cannot be made without acquisition of all the information relevant for understanding the situation in which the decision-makers find themselves, autonomy implies a duty to keep oneself informed:

21. �In the case of genetic knowledge this means that people have a moral duty to know about their genetic disorders in order to be free and autonomous, that is, to be moral agents� (Vehmas 2001, p. 473).

22. Another argument that could be used to support this claim derives from the notion of �moral responsibility� (Vehmas 2001, p. 475-476). 

23. Moral responsibility can be hampered in two ways: by coercion and force, or by the absence of crucial information

24. For the information part of this argument see also Harris, Keywood 2001, p. 421: �It is now easy to see how absence of crucial information is inimical to self government, to the ability to control one�s own destiny, and hence inimical to autonomy. Ignorance of crucial information is inimical to autonomy in a way that other autonomy-limiting choices are not. For where the individual is ignorant of information that bears upon rational life choices she is not in a position to be self-governing. If I lack information, for example about how long my life is likely to continue I cannot make rational plans for the rest of my life. If I do not know that my life is only likely to last five more years, rather than say twenty five more, many of my priorities will be inappropriate and some will be self-defeating�.

25. If we apply these arguments to the situation of prospective parents considering whether to undergo genetic testing before conceiving a child, it seems to follow that in order to act in a responsible way, they ought to get hold of as much relevant genetic information as possible �...and make their decisions on the basis of it without coercion� (Vehmas 2001, p. 476 ).

26. Problems underlying these arguments: To illustrate this, take the situation of a couple considering to have a child where the woman knows that she might be a carrier of a Fragile X gene. The couple decline the doctor�s advice to undergo testing. At first sight, it seems that knowing whether the woman is a carrier or not is indeed relevant to the couple, and that to abstain from taking the test represents irresponsible behaviour on their part as prospective parents. The problem with this argument is that it fails to contextualise the notion of �relevant information� (The case is presented in Vehmas 2001 a), p. 476).

27. Consequently, we know little about what kind of information the prospective parents themselves consider to be relevant in their situation. Besides, the argument presumes �relevant information� to have the same meaning for all, i.e. information that makes it possible for prospective parents to go for the �best� alternative, a healthy child. As observed by several authors, this is a contestable presupposition:

28. First, it takes for granted that a disabled child is always worse off. Second, it assumes that families with disabled children will always be more burdened (emotionally and economically) than ordinary families. Third, it presumes that the world would be better off by bringing a non-disabled individual to birth (T. Takala, �Genetic ignorance and reasonable paternalism�, Theoretical Medicine, 22, 2001, p. 488, with refrence to S. Vehmas, �Assent and selective abortion: a response to Rhodes and H�yry�, Cambridge Quarterly of Healthcare Ethics, 10, 2001: 433-440. For this, see also R. Bennett, �Antenatal Genetic Testing�, Theoretical Medicine, 22, 2001 (461-471), p. 468; S. Vehmas 2001 a), p. 476-477, with reference to E. Parens, A. Asch, �The disability rights critique of prenatal genetic testing: reflections and recommendations�, Hastings Center Report, 1999, 29: 1-22 and to S. Vehmas, �Newborn infants and the moral significance of intellectual disabilities�, Journal of the Association for Persons with Severe Handicaps, 24, 1999: 111-121).

29. A preliminary conclusion that can be drawn from this analysis is that the couple�s behaviour may very well be viewed as responsible behaviour. As argued by Vehmas, for this to be the case the decision to decline testing and forego with a child, has to �...be based on a conscious parental assent to commit to the caring of a future child despite its characteristics�. In such a case, the couple�s decision to remain genetically ignorant would be fully reasonable and in accordance with the principle of autonomy (Vehmas 2001 a), p. 477-478). 

30. Another argument disputing the claim that autonomous decision making implies a duty to keep oneself genetically informed, has effectively disclosed the moral paternalism lurking behind this claim:

31. �If a person�s own judgement can be overridden by considerations of the �reasonable�, as defined by the profession, or by ethicists for that matter, we must forget the principle of autonomy at the outset, or at least find its applications extremely restricted. It seems that by accepting the rhetorics of �what the reasonable person would do�, we re-introduce the practice of paternalism to medical ethics. Even more alarmingly, it is paternalism at its strongest that we are asked to accept when we face the prospect of acquiring genetic information...

32. It is one thing to prevent someone from chopping off his legs with an ax (to check self-inflicted harm), and quite another to force someone to run laps regularly to keep herself fit (to enforce self-induced benefit). The situation is even worse, when ethicists claim that we should know about our genetic constitution although we cannot medically benefit from the knowledge. Then we should acquire the information only for the sake of what is now known as scientific truth. This would be extreme moral paternalism. To campaign for its acceptance has nothing to do with upholding the ideals of autonomy� (Takala 2001, p. 490) .

33. Autonomy and the right to genetic ignorance We now turn to the question whether the principle of autonomy can be used to defend the opposite claim, i.e. a right to genetic ignorance. This is an option explicitly stated in Article 10(2) of the Convention on Human Rights and Biomedicine of the Council of Europe:

34. �Everyone is entitled to know any information collected about his or health. However, the wishes of individuals not to be so informed shall be observed�.

35. In spite of this fact, there are authors who claim that �...there is no basis in law or ethics for a right not to know, whether allegedly derived from autonomy or indeed from any other principle, which �trumps� all competing claims� (Harris, Keywood, 2001, p. 415-416).

36. Their view is that a careful analysis of the claim to genetic ignorance would evidently show that the principle of autonomy guides us in the opposite direction (Harris, Keywood, p. 432).

37. One version of the argument from the opposite side sees the right to genetic ignorance within the broader context of health information:

38. �...the principle of respect for individual autonomy dictates that competent individuals have the right to decline information about their health status, even where this action is thought by others to be contrary to their best interests. Just as we allow competent individuals to make other �risky� or perhaps ill advised decisions about how they lead their lives such as taking up a dangerous sport or having a very unhealthy diet, so perhaps we should allow individuals to keep their heads in the sand about their possible health status� (R. Bennett, �Antenatal genetic testing and the right to remain in ignorance�, Theoretical Medicine, 22, 2001 (461-471), p. 462). 

39. One way of challenging this argument has been by appeals to the notion of harm, i.e. that ignorance about genetic facts may not only be harming to oneself, but also to genetically related third parties (Bennett 2001, p. 467 with reference to J. Harris, Clones, Genes and Immorality, Oxford 1998).

40. This critique has stimulated the further elaboration of this argument, based on a Millian conception of autonomy which explicitly addresses the notion of harm:

41. (a) �Individuals do not have a duty to know about their genetic makeup, if they do not harm others by remaining in ignorance� (b) �Others have a duty not to force-feed them with the information, if third parties are not harmed by the ignorance�.(c) �Somebody, presumably the government, has a duty to prevent others from force-feeding them with the information, if third parties are not harmed by the ignorance� (M. H�yry, T. Takala, �Genetic information, rights, and autonomy�, Theoretical Medicine, 22, 2001 (403-414), p. 411).

42. According to the architects behind this view, the three norms thus formulated �add up to a right not to know on certain conditions�, which entails that this right remains in force as long as it does not inflict harm to others (H�yry, Takala 2001, p. 411).

43. It remains to consider one particular form of appeal to the notion of harm, that has been used to contest the justification of a right not to know within the context of antenatal genetic testing. To remain ignorant, it is argued, can cause harm that could have been avoided to children born with genetic disorders. The problem with this kind of appeal to harm is that it gives the impression that genetic testing can be used to resolve the problem of harm in relation to those particular children. However, as long as the only way to cope with prenatal genetic disorders is abortion, this is hardly the case, except perhaps in situations where the disorder itself causes extreme suffering to the child:

44. �...genetic testing in pregnancy cannot be justified on the grounds that it prevents harm to others. Just like other instances where genetic testing may be thought to be advisable, it is advisable in order that the individual undergoing testing be provided with information that will be of interest to her and the decisions she makes concerning her life. Where genetic disorders cannot be prevented information about these disorders may prove important for those women who do not wish to raise an impaired child. But this information does not prevent harm to that particular child...As prenatal genetic testing provides information in the interests of the pregnant woman and not in the interests of any future child the same standards of consent that are normally required for genetic testing should be required in this instance. If there is a right to remain in ignorance of information about our genetic health, then this right is unaltered by pregnancy, at least until treatments emerge that can reverse genetic impairment� (Bennett 2001, p. 469).