In previous articles we have seen how the burgeoning field of Pharmacogenomics promises to bring a new era of more effective personalised medicines. In this article we will consider the ethical and practical implications of this new technology.
The advancement of the science of pharmacogenomics and tailoring drugs to specific genomes will rely on the redesign of clinical trial to include the sampling and analysing of extensive genetic information about the trial participants.
This testing for specific disease markers raises two main issues within the concept of consent;
(i) When testing for a genetic related disease, it is inevitable that information is simultaneously obtained about the individuals relatives – raising issues of privacy. While the trial subject is happy for their data and information to be used by researchers, the act of their participation and analysing of their genomes automatically discloses information to the researchers and others about their family members – who may not have consented to such information being available.
(ii) The DNA collected from the patient will most likely be stored to be analysed in future trials and for future research. This would include not only the genetic variables related to the disease being studied – but the entire genome. This creates problems with ongoing consent – patients may be happy to have their DNA sequenced and analysed for the purpose of immediate drug development, but the samples could provide a range of other information unrelated to the original study. Subjects could not be expected to understand or consider the vast range of uses their samples could be put to in future and so true informed consent could be questioned.
Data and Confidentiality
The success of Pharmacogenomics depends on storing and utilising huge data sets of information to discern patterns amongst patient groups and drug classes.
Stories of data leaks, selling of personal data and breakdown of trust of large multinationals and corporations seem to crop up every couple of months.
Recent investigations into companies such as Cambridge Analytica and Facebook targeting users with thousands of data points to influence behaviour proves that personal data is inherently valuable – it could be argued that DNA and genomic data could be a lot more use to advertisers or influencers than social media likes or google searches.
When a patient has their genetic information collected as part of a clinical diagnosis it falls that they have rights over that information, and they may have an interest in keeping it confidential if they feel it may adversely impact their life to disclose to third parties.
Similar to when patients are diagnosed with certain diseases and precluded from driving, not all of them will disclose to the DVLA the limitations due to their condition as they should, instead relying on the confidentiality between them and their clinician to continue as normal.
Health insurers and even employers may feel that they should have access to information about patients and employees that could have the potential to adversely affect them – for example, genetic variants implicated in nicotine dependence have been associated with an increased risk of becoming addicted to cocaine and alcohol, and also with certain psychiatric conditions. Should applicants have to disclose any potential issues which may or may not be realized in the future?
Justice & Equality in Healthcare
While there are undoubtedly inequalities in healthcare across geographical locations, social classes and races – it a defined goal of the NHS to limit and reduce these inequalities as much as possible – the founding principles stating that services should be comprehensive, universal and free at the point of delivery. The idea that someone, or some group of people, would have less access to medical treatments simply by virtue of their luck in the genetic lottery speaks to our sense of fairness and equality.
This raises even further issues when we think about cost-effectiveness of medicines. Healthcare providers do not have unlimited budgets and seek the most efficacious medicines to benefit their patients in a cost-effective way. Pharmacogenomics and genetic testing may lead to a situation where groups of patients are identified as being less responsive to drugs, or more likely to have adverse reactions – thus costing more in the long run. From a solely budget focussed position, these patients could be discriminated against or disadvantaged when treatment protocols are being developed.
Another issue is should a patient receive treatment if pharmacogenomic tests are refused? What if a drug company licenced a product in such a way that part of that licence required confirmation of a condition or variant through a genetic test – Herceptin for example, is licenced only for use patients with HER2 (human epidermal growth factor receptor 2) – a gene that can play a role in the development of breast cancer. The use of medication without such a test would be off-licence and many clinicians would feel uncomfortable prescribing without being sure the gene variant is present.
In many cases, genetic testing would be agreeable by the patient as it may help to reduce adverse effects – For example, the U.S. Food and Drug Administration recommends genetic testing before giving Mercaptopurine to patients with acute lymphoblastic leukaemia. Some people have a genetic variant that interferes with their ability to process this drug which leads to problems causing severe side effects, unless the dose is adjusted according to the patient’s genetic makeup. But as discussed previously, there are scenarios where a genetic test may leave the patient at a disadvantage – say due to restriction of treatments or greater insurance costs they may not want that information known.
It is generally agreed that the cost of drugs that can be tailor-made for individual genomes and adapted to a groups particular genetic makeup are likely to be high. Increased research and development must be done to both identify the genetic profiles to be targeted, and the clinical trials that accompany the development of any subsequent medications.
There have been some suggestions that the costs of these new drugs may on the whole prohibit their development – the more specific the medication, the more limited the market and the less income, hence making them less appealing for the pharmaceutical industry. In essence their specificity makes them less attractive to drug companies who have shareholders to appease.
Nevertheless, development of medications for “orphan” genotypes may be required to create a more fair and empathetic society. Public money and research facilities can be used to make development more attractive to drug companies, though in some cases they exploit the resources afforded to them to patent partner developed medication for substantial profit (Alexandria Ocasio-Cortez’s recent questioning of the Gilead CEO over their HIV medication Truvada is a perfect example – www.bit.ly/AOC-Gilead).
Perhaps the most controversial and contentious facets of pharmacogenetics is the development of new drugs in a racial or ethnic context.
It is possible that medicines developed may for a specific population may be on scientific grounds – i.e. they are easier to develop and treat, but alternatively and unethically on economic grounds.
If drug companies begin to utilise genetic data to optimise their profits, they are likely to concentrate on diseases that affect more affluent Caucasian western countries as opposed to poorer African countries giving rise to racial medicines. It could be forcefully argued that this already happens. For example, River Blindness (Onchocerciasis), caused by a parasitic worm, is transmitted to humans through exposure to bites of infected black flies. Around 200 million people are at risk of the disease (a huge market and roughly the same as global Peripheral Artery Disease) – but 99% of infected people live in 31 African countries.
The FDA only approved the first new treatment for river blindness in 20 years in 2018 which was submitted by a not-for-profit biopharmaceutical company – Medicines Development for Global Health (MDGH).
The classing of patients in racial or ethnic groups due to scientific grounds may have further unintended societal implications – lending weight to the arguments of extremists and racists who could point to the pharmacogenetic data as proof of the differences between races. Such arguments should always be countered with the fact that there is as much variation within races as there is between them!
In conclusion, while the advent of pharmacogenetics will lead to many advances in medicine, it should be borne in mind that we are human beings and despite our subtle differences we are all essentially the same and should be valued equally when it comes to healthcare.
Karen Peterson-Iyer. “Pharmacogenomics, Ethics, and Public Policy.” Kennedy Institute of Ethics Journal 18, no. 1 (2008): 35-56.
Lipton P. “Pharmacogenetics: the ethical issues.” Pharmacogenomics J. 2003; 3(1):14–16
Gershon ES., Alliey-Rodriguez N. “New ethical issues for genetic counselling in common mental disorders.” Am J Psychiatry. 2013;170:968–976
Lee SSJ. “Race, distributive justice and the promise of pharmacogenomics: ethical considerations.” Am J Pharmacogenomics. 2003;3:385–292
Shields AE. “Ethical concerns related to developing pharmacogenomic treatment strategies for addiction.” Addict Sci Clin Pract. 2011;6(1):32–43.
Gershon ES, Alliey-Rodriguez N, Grennan K. “Ethical and public policy challenges for pharmacogenomics” Dialogues Clin Neurosci. 2014;16(4):567–574.
Nuffield Council on Bioethics Report – Pharmacogenetics: Ethical issues; http://nuffieldbioethics.org/wp-content/uploads/2014/07/Pharmacogenetics-Report.pdf
Author: Leon O’Hagan