Last night’s CPC featured a topic suggested by Louise Gillies, ‘Who owns my genetic information?’ Chris Groves introduced the session with a short talk covering the nature of genomics, together with some of the ethical issues raised by the nature of genomic information and the technologies which may help us exploit it. The genetic code, consisting of molecules of DNA each formed of some 3 billion base pairs of 4 kinds of nucleic acids, is found in the chromosomes within each cell of a living creature. Around 0.2% of these base pairs are ‘coding’ DNA, which influence how cells make proteins and thus reproduce themselves and thereby the bodies and characteristics (the ‘phenotype’) of living things. The rest is ‘non-coding’ DNA, which was once thought to be functionless (‘junk’) but is now thought to have other regulatory functions within cells. Thanks to its functions in shaping individual development, DNA is often described metaphorically as a ‘blueprint’ or ‘recipe’ for making individual living creatures.
In humans, the advent of sequencing technologies and powerful computers in the 1990s made possible for the first time a complete sequencing of the human genome as part of the Human Genome Project, a ‘map’ of the base pairs that make up human genetic material. Among the hopes expressed for how genomic science could change the world, many geneticists and clinicians spoke of a new era of preventative medicine, based on population studies that would yield knowledge of the links between genetic variants (‘genotypes’) and medical conditions (‘disease phenotypes’). Clinical genetic tests had been around for a while for single-gene conditions (like Huntingdon’s disease) and also for ‘high-penetrance’ genes that were strongly associated with particular conditions (as in the case of the links between the BRCA1/2 genes and breast cancer, for example). But the capability of fully sequencing individual genotypes (or, alternatively – and less expensively – looking for single nucleotide polymorphisms [SNPs] in regions of the genome known to be significant for particular diseases) meant that genomic components for common conditions (such as diabetes or heart disease) involving perhaps thousands of genes could also be identified.
Personal genomics emerged in the USA in 2007 as a way of making genomic information available to anyone able to pay for a test. Working with a biosample (such as spit), personal genomics companies like 23andMe would produce SNP scans (rather than full sequences). On the basis of this information, they would then provide their customers with a digest report of research (based on publicly available studies) detailing how much additional risk (compared to the average) their specific genotype would add or subtract to their chance of getting conditions like heart disease. They would also make the raw data produced by the SNP scan available to the customer. In this way, the customer would gain a right of access to their genomic data.
So in a legal sense, the information thus obtained (the report on disease risk and the raw data) both belong to the purchaser. But if we go beyond the level of legality, do individuals have a moral duty to share this information with others? A positive test for a serious single-gene condition might have serious implications for any decision to have children, for example – so at least one’s partner might need to be told. But beyond this, is there any duty to share information about elevated disease risk with employers, or insurance companies?
The idea that the decision to share or not to share is one’s own reflects the principle of autonomy in bioethics, i.e. the idea that individual choice and self-determination in medical matters is foundational. But to share implies that one exclusively possesses something that one can either alienate from oneself/share or not. Does this make sense, in the case of either one’s genome or knowledge about it? In fact, legal views regarding property rights and parts of one’s body are not clear cut. Legal precedent has not established that such rights can exist – there is, for example, no right to sell a kidney. So does it make sense to say that one can, in fact, be wronged if someone obtains genetic information – suppose, for example, that an individual picks up a napkin used by someone, and uses saliva to produce a DNA sample that is then sequenced, and reveals genetic risk factors for common or rare conditions. Is this legally or morally wrong, if one does not, strictly speaking, own one’s genome and representations of it?
Complicating matters further is the fact that case law has established that, even if one cannot have property rights in parts of one’s own body, other parties can. For example, the legal case Moore v Regents of the University of California 793 P 2d 479 (Cal 1990) was brought by a Mr Moore, who had taken part willingly in a medical experiment at the University of California that led to a cell sample from his body being stored at the university. Subsequently, the lab developed a cell line from this sample that was sold to a private company for some $150,000. Moore sought to sue the University as a result, and lost. The case was judged on the principle that improvement of raw material employing technical skill gives the person or persons responsible property rights over the material that has been worked on. As a moral principle, this idea was defended by John Locke (1632 – 1704), who argued that the idea of property could be derived from an analysis of the state of nature, Any ‘mixing of labour’ with raw material, he suggested, gave rise to a right of ownership, as in, for example, the act of drawing water from a spring or picking apples. Similarly, in the Moore case, the university lab effectively owned the sample and the cell lines derived from it. 23andMe have operated along similar lines. Their 23andWe research project invites customers who buy their tests to agree to allow their data to be used in further population studies to assist in establishing associations between genes and health conditions. Consent, if given, will as in the Moore case allow 23andMe to sell data to private companies.
Another take on the issue of property has been that individual genomes are part of a genetic commons no part of which can be owned by individuals. As such, genetic information should be treated as the common property of all and to be used for furthering the common good, through (for example) public health research using public biobanks of genomic data. Some have argued that solidarity might thus be a better principle to rely on than autonomy in thinking about whether or not genetic data should be shared. Perhaps individuals have, in fact, a duty to share their information with researchers in order to promote the development of preventative medicine and new personalised treatments.
In discussion, the audience reflected at length on issues of privacy and anonymity. If anonymity could be guaranteed, some suggested, then a duty to share data for research could be accepted. But, it was pointed out, there may be no absolute guarantee of this, and so agreement would have to be reached on the proper balance between risks to individuals resulting from their being identified on the one hand, and the possibility of losing out on projected major future public health benefits on the other. Others pointed out that these benefits were mostly purely speculative at this stage. But advocates of sharing data argue that we cannot wait for technology to advance to the point where such benefits become possible, as it is only through a hugely increased sharing of data that such advances will be possible in the first place.
There was also much discussion of the difficulties involved in deciding whether to disclose information to loved ones. It was suggested, however, that in some circumstances it might be justifiable to ask a relative (one’s parent, say) to take a test – for example, to determine whether s/he might be at risk of contracting Alzheimer’s. Having a genetically-informed prognosis would allow arrangements to be made for the parent’s care, in case the risk eventuated. The possibility of new social inequalities based on the effective uninsurability of sections of the population with elevated disease risk for common conditions was also raised, with the prospect that such inequalities could become a kind of transgenerational curse.