In Depth: Are we obliged to learn genetic information about ourselves?

The idea that there is a right to refuse to know relevant genetic information about ourselves is one which appears to be broadly recognised in law. The Council of Europe’s Oviedo Convention states that:

“Everyone is entitled to know any information collected about his or her health. However, the wishes of individuals not to be so informed shall be observed.”¹

However, I would question whether this is consistent with the principle of autonomy. Given the growing relevance of the field, let’s focus on the idea of genetic information in predictive medicine.

First off, we’re going to need to explore what the concepts at hand actually mean in context.

We might term ‘the right to genetic ignorance’ as being the interest in not knowing genetic information; and for our purposes we will frame that interest as being held, in the first instance, by the individual to whom the genetic information pertains.

Ignorance is defined as being “uninformed about or unaware of a specific subject or fact”2, a denotation which lends itself to our above interpretation of the ‘right’ under examination. Whether a right exists or not, the idea of an entitlement would suggest that it may be possible to make a wilful choice to remain in an uninformed state, implying that the gaining of such knowledge as is under discussion is not an inevitability- that gaining it requires some form of intervention. This is borne out by the realities of what this genetic information constitutes.

The term itself is pretty vague- genetic data is fairly meaningless in a raw form, only becoming valuable through processing and analysis- but for this raw data to be collected in the first place requires a physical source, a sample removed from the tissue of the subject. Genetic data cannot be gathered as an abstract- fundamentally, it’s a sequence physically encoded by protein structures in cells, to use broad terms. The act of accessing these structures that they may be ‘read‘ is undoubtedly a definite intervention. The data gained is incomprehensible without the application of considerable computing power and knowledge, and as such must ultimately be translated into a form with meaning which might be communicated back to the interested individual. This act of communication, too, is a definite intervention- if the information is not communicated, then the interested party stands little chance of learning it themselves. Consequently, we can see that the acquisition of genetic self-knowledge is not inherently inevitable, and that therefore it would be conceivably possible- irrespective of autonomy- to maintain your ignorance. It’s worthy considering, however, that it has been suggested3 that the act of refusing requires an internal acknowledgement that the information exists; thus transforming an unknown unknown into a known unknown because that acknowledgement includes an idea of its character. If this is the case, then at the point of choice it may be that total ignorance is impossible.

The idea of ‘relevant information’ is particularly problematic in medical decision-making, with the spectre of the tort of negligence4 and the attached doctrine of informed consent5 looming large in the background, because the subjective nature of relevance renders it a highly vague term. There’s no point in attempting to fathom this subject too deeply here, there being a wealth of literature extant6 on information and disclosure in tort law, but it is important that we clarify the ramifications of the expression if we are to go on to utilise it.

I’m going, in superficial terms, to suggest that ‘relevant’ medical information about an individual comprises diagnoses, prognoses, and recommended treatments and prescriptions alongside their inherent risks: i.e., those factors which have an an immediate or direct future bearing on the health of that person. Based on the logical concept that relevancy is a function which requires consistent and related antecedent and consequent propositions7, this relatively narrow range of information is the appropriate base answer to a question of informed consent about a hypothetical procedure. However, both medical decision-making and the maintenance of autonomic sovereignty require a more expansive interpretation of what might be considered relevant- for instance, we can envision a scenario wherein information is omitted as it does not have a direct bearing on a patient’s immediate health issues, but where that very omission results in grave ramifications later in life8.

In a genetic context we might imagine that for a patient diagnosed symptomatically to be suffering Huntingdon’s chorea, the information that they are indeed carrying a mutation9 in the Huntingtin– coding gene may serve no useful purpose. This is arguably true for concerns of the self, since it makes no practical difference to their prognosis, but it does not take into account the potential relevance such information has to family members yet to be diagnosed. One interest you often see quoted by theorists10 is the idea that such information can lead to changes in life choices, such as to have children; and we could relate this idea to our example by considering that the genetic information is highly relevant for the subject’s sibling and their potential desire to start a family. The information would allow the sibling to decide whether to risk having a child who may have the disease. This notion opens interesting questions as regards autonomic duties, though these are maybe fodder for a different post.

This latter scenario can also illustrate the need for information in autonomy if we think of it in terms of allowing a decision; as decided in F v. West Berkshire Health Authority11. By virtue of having access to information we have already determined to be relevant, the sibling is able to make a determinate choice about their reproductive autonomy, and also whether they themselves wish to undergo genetic testing.

Perspicuously, then, being informed is a factor in making choices; and we must determine the extent to which we are ‘obliged’ to learn about ourselves in order to make this act practicable. I have already explained that it is substantively possible to refuse information and maintain ignorance, but maybe it’s not clear to what extent this idea can be enacted under the aegis of autonomy. Looks like we’re going to require an understanding of the relationship between information and the nature of self-determinance.

An obligation is an absolutism which carries the intimation of a binding duty12, in this case to learn genetic information about ourselves. Crucially, this word removes the notion of choice– if we are obligated to perform an act, we are legally or morally unable to refuse. This notion causes a problem if we want to be autonomous; at its most basic distillation, autonomy is “the possession of self-government”13, and for one to act in a self-determinative fashion one must necessarily have choice.

The key aspect that prevents the statement from becoming void due to this contradiction is that the touted obligation is to gain information, and in medical law it is generally held to be the case that uninformed decisions are invalid14,15- in other words, as far as societal values are concerned, we are obliged to be autonomous. You might assume, then, that the acquisition of genetic self-knowledge will facilitate self-governance by leading to informed choice. So, does this in some fashion override the conflict of interests I have noted? Well… that depends on whether the assumption is accurate or not.

Autonomous thought, as described by Dworkin, requires the facets of authenticity and of independence16. In broad terms, this procedural vision of autonomy holds that to be autonomous one must make choices that are consistent with one’s own motivations17, and are not the product of external influence from the opinions of others. This view would appear to allow for an autonomous refusal of genetic knowledge, provided that those two criteria were satisfied by the decision being made. Thing is, if we examine the facilities an individual must possess in order to be authentic, we find that the possession of information plays a vital role.

You are deemed to have ‘capacity’ (to make autonomous decisions) only where you are deemed to be rational, which can be understood as the ability to “…form judgements logically”18, or to derive conclusions. Rationality, then, is a method of optimising19 a response to information; by which you can make the choice which benefits you the most. In making this choice, you are practicing autonomous self-governance. We don’t need to think about the fundamentally subjective nature of rationality here, because the process of value judgement functions in the same manner with socially incongruous beliefs as it does with accepted perceptions- both make use of the basic information to draw a conclusion, as was discussed in the landmark legal case NHS Trust v T20.

So rationality might be thought of as the methodology of autonomy- one processes information in a rational manner in order to make an autonomous choice. Essential to this equation is an input- which for my purposes here is genetic information about the self, or genetic self-knowledge. I touched upon the requirement for information in autonomy previously with the example of the sibling of a Huntingdon’s chorea sufferer requiring information in order to make choices about his potential offspring, but it would be useful to look further into the relationship between the two.

Certain academics have made the case that “where the individual is ignorant of information that bears upon rational life choices she is not in a position to be self-governing”21 on the basis that it is impossible to actively choose between two unknowns. The implication being that without knowledge, decisions are reduced to unfounded speculation; which coheres with my earlier conception of the role of rationality in drawing a reasoned conclusion from a set of information. The notion of informed consent as a choice mechanism22 rests upon this position- GMC guidelines state that “[patients] . . . must be given sufficient information, in a way that they can understand, in order to enable them to make informed decisions about their care.”23 If the academics are right, then the key question lies in determining how much information is necessary; or, to the point, what exactly might constitute relevant genetic self-knowledge.

In addressing this question, Katz24 drew parallels with the concept of the ‘subjective standard’ of what might constitute adequate information for informed consent. The subjective standard asks “what would this patient need to know and understand in order to make an informed decision?”25, which is clearly a highly individualistic approach given the specification of ‘this [particular] patient’. To serve individualism (in this case, the egoist ethical stance as opposed to the societal outlook) of this nature requires far more consideration than the brief appraisal of relevant information that I gave before- which was in effect an admittedly scant form of the ‘reasonable patient standard’26- because it would require the selection of information to be tailored to every personal quirk and interest in the character of the patient. Expanding this notion in order to apply it to autonomy, we are faced with what Takala describes as

“the impossible… [as] even everyday decisions would… require full knowledge of psychology, biology, culture studies, philosophy, economics and the law, to say the least.”27

She might be right, from a very literal perspective. It would of course be impractical in the extreme to require an autonomous decision-maker to possess every single scrap of information which could potentially have a degree of bearing on their choice; and I would go so far as to say that if this were the case, no mortal man could claim to be able to act with sovereignty.

So to avoid this fatalistic conclusion and instead work within the realm of practicable autonomy, we have to reconsider my earlier appraisal of the reasonable person standard, also known as the ‘objective’ standard. The nomenclature neatly evokes the difference between this stance and Katz’s, and we might describe its requirements as being “that the doctor should disclose all that information such that if it were not disclosed, a rational person in the patient’s position would make an alternative decision.”28 I already established that rationality is a prerequisite in the possession of autonomy, and this approach is reliant on its presence. Presumably, a practicable autonomic condition for choice would be the result of providing information based on this standard.

Having established what might constitute relevant information as it pertains to autonomous thought, then, I’m still left with the question at the heart of the issue- is it possible to be autonomous and still refuse information? After all, if you are unaware of the presence of a potential genetic risk factor, you’re likely to rationalise life choices based on the information you already possess. In doing so, you would still satisfy the requirement of drawing a conclusion from information, and conceivably you would do so to correspond with your wishes for your own future- whatever the order of desire from which those may arise29.

Harris and Keywood argue that an active desire not to possess genetic self-knowledge is not sustainable from the point of view of “autonomy as the ability and the freedom to make the choices that shape our lives”30 because:

“all choices we make for ourselves, our children and others not competent to choose for themselves, pre-empt and foreclose other decisions we might make or options we might exercise.”31

In other words, the act of refusing information reduces our options. If a patient does not know of their proclivity for a certain condition, for instance the 60% risk of developing a form of breast cancer or the 55% chance of ovarian cancer which affects carriers of a mutation in the DNA-binding BRCA1 gene32; then they are denied the option of embarking upon preventative strategies to lower this chance, such as prophylactic mastectomy/ oophorectomy or chemoprevention.

Furthermore, the objective standard itself discounts the possibility of autonomy without information. Suggesting that “…if [genetic information] were not disclosed, a rational person… would make an alternative decision”33 implies that this alternative choice is made because another is not presented for consideration. If autonomy is self-government, being forced into a particular branch of a decision is clearly the opposite and so wholly defeats the goals of self-determination. Rhodes claims34 that we are morally bound to act autonomously, so it might be argued that there is in fact an obligation to acquire genetic self-knowledge in order to realise this.

It is unclear whether ignorance can truly exist without pre-registration of will. Although it is unrealistic to deliver every possible piece of information with any bearing on a decision to a subject, it is eminently possible to give the information which opens all of their options to them. Given that the ability to freely choose between all options available is the nature of autonomy, and possession of information is required to achieve this state, I would suggest that if we are bound to hold autonomy in primacy, then it does in fact override any right to ignorance.

Refs

¹ Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine: Convention on Human Rights and Medicine. Oviedo, 1997. Article 10.2.

http://conventions.coe.int/Treaty/en/Treaties/html/164.htm

² Soanes, C. and Stevenson, A. (eds.) Concise Oxford English Dictionary 11^th edn. revised, OUP 2006. 709

³ Chico, V. Genomic Negligence; An Interest in Autonomy as the Basis for Novel Negligence Claims Generated by Genetic Technology 2011. Routledge. Ch. 7.

⁴ Chatterton v. Gerson [1981] 1 All ER 257.

⁵ Pelias, M. Duty to disclose in medical genetics: A legal perspective American Journal of Medical Genetics 1991. 39; 3: 347–354

⁶ Such as:  Faden, R. and Beauchamp, T. A History and Theory of Informed Consent. New York: Oxford University Press, 1986;

Titus, S. and Keane, M. Do You Understand?: An Ethical Assessment of Researchers’ Description of the Consenting Process. The Journal of Clinical Ethics 1996. 7(1): 60-68; and others.

⁷ Sperber, D. and Wilson, D. Relevance: Communication and Cognition. 2nd ed. Oxford: Blackwell. 1995

⁸ Smith, J. and Maddern, G. The negligent failure to disclose medical risks: the limits of the common law ANZ Journal of Surgery 2011 81; 10: 664–665

⁹ Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell 1993. 72, 971–983

¹⁰ such as Norrgard, K. Ethics of genetic testing: medical insurance and genetic discrimination. Nature Education 2008. 1(1)

¹¹ F v. West Berkshire Health Authority (Mental Health Act Commission Intervening) [1989] 2 All ER 545

¹² op cit 2, 986

¹³ op cit 2 89

¹⁴ Kennedy, I. and Grubb, A. Medical law. London: Butterworths, 2000: 704–13.

¹⁵ de Cruz, P. Comparative health care law. London: Cavendish, 2001: 323–56.

¹⁶ Dworkin, G. The Theory and Practice of Autonomy Cambridge University Press, 1988. Ch. 1

¹⁷ op cit 3. 182

¹⁸ op cit 2. 1198

¹⁹ Mosterín, J. Lo mejor posible: Racionalidad y acción humana. Madrid: Alianza Editorial, 2008. 318. Translation author’s own.

²⁰ NHS Trust v T [2004] EWHC 1279 (Fam)

²¹ Harris, J. and Keywood, K. Ignorance, information and Autonomy  Theoretical Medicine 2001. 22; 415

²² Faden, R. and Beauchamp, T. A History and Theory of Informed Consent. New York: Oxford University Press. 1986

²³ General Medical Council. Seeking patients’ consent: the ethical considerations. London: General Medical Council, 1999: 2.

²⁴ Katz, J. Informed Consent – A Fairy Tale – Law’s Vision. U. Pitt. L. Rev. 1978. 39 137

²⁵ University of Washington School of Medicine. Ethics in Medicine http://depts.washington.edu/bioethx/topics/consent.html#ques3

²⁶  as in Canterbury v. Spence., 464 F.2d 772 (D.C. Cir. 1972)

²⁷ Takala, T. The Right to Genetic Ignorance Confirmed Bioethics 1999 13; 288.

²⁸ Yuen- Cheng, K. What does respect for the patient’s autonomy require?. Bioethics 2012 doi: 10.1111/j.1467-8519.2012.01973.x Awaiting print. Original emphasis.

²⁹ op cit 16

³⁰ op cit 21

³¹ op cit 21

³² Ford, D. and Goldgar, D. Risks of cancer in BRCA1-mutation carriers The Lancet 1994 343;8899, 692-695

³³ op cit 28

³⁴ Rhodes, R. 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.

Tags: autonomy, bioethics, choice, genes, genetic information, genetic knowledge, genetics, Huntingdon's, medical decision-making, philosophy, predictive medicine, public health, rationality, self-governance, self-kn owledge