A large National Health Service (NHS) project to sequence the genomes of up to 200,000 newborn babies is planned to start next year in the United Kingdom. This Whole Genome Sequencing (WGS) project raises a myriad of ethical issues, as its planners recognise. They have established a consultation process to guide the development of the project.
Newborn babies in Western democracies are routinely tested for certain diseases or conditions at birth. These tests allow treatment of some conditions, which left untreated would cause serious irreversible harm to the baby. If the project shows that WGS is ethical and valuable, it could be made available to all British newborn babies.
As an article in the Economist explains in relation to the ethical issues raised by WGS:
One lesson is to start conservatively. The British project is likely to begin with a small number of extremely reliable tests that will improve the way children are treated. This ensures the testing is for the benefit of the child. Tests that are not firmly diagnostic, or which involve much follow-up work, are not a priority. Control of the data should be passed on to children at adulthood. Finding the time to educate parents, so they can make good decisions, is essential."
This is sometimes referred to as a "staged implementation approach" and is used for ethical reasons when there are unknown risks and possible harms: small steps are taken and monitored for risks and harms, before ones with more risks or potential harms are introduced. I will give a brief and non-comprehensive overview of some of the ethical issues, which will need to be addressed in undertaking this project.
The standard sequence for medical research on human beings is to first carry out prior animal research to assess risks and harms. Then, the least vulnerable human subjects may be recruited, that is usually, competent adults able to give a free and informed consent. It is only if the research cannot be undertaken on non-vulnerable adults and babies are the only possible subjects that they may be involved. The research should be of minimal risk and is easier to ethically justify if it could be of benefit to the child.
The description of the project sets out clearly the possible benefits of the WGS Project, and there could be many of these for the babies, other individuals and society. It gives much less space to describing its possible risks and harms. For this reason, I will focus in this short article on its potential risks and harms.
The combination of clinical and research elements in an intervention raises the issue of which ethical requirements apply. The research ethical requirements are more demanding than the clinical ones and the stricter standard will usually be demanded.
Then there are multiple complexities regarding obtaining informed consent to genomic testing, which are compounded by the difficulties of communicating effectively with people who do not understand genetics, or concepts such as probabilities, or indeterminate results, and so on. These problems are augmented when the communication is not provided by a trained genetic counsellor, because other healthcare professionals, family doctors, for example, might not competent to provide genetic counselling.
We also need to differentiate the information required before testing to obtain an informed consent to testing and that required after testing, in order to fulfill the healthcare professional's duty of care. This duty is owed to the person tested or the parents, if that person is a baby, and, possibly, can also be owed to other family members. This raises the issue of a "right not to know" because these people did not give informed consent to genetic screening.
The question of a "right not to know" test results came into prominence in the HIV/AIDS epidemic in the 1980s, when tests for HIV infection became available. HIV testing allowed contact tracing of at risk individuals in order to restrict the spread of the virus. It also allowed an HIV positive person to warn another of the risk they faced if they engaged in conduct which could transmit the virus and to avoid that risk. WGS does not allow anyone to avoid a risk to themselves, except to the extent they have a treatable condition which is identified. Whether relatives who could be at risk should be notified is a complex issue that, from an ethical perspective, can only be decided on a case by case basis.
In one case in which I was consulted, a young woman was working as a lab assistant in a genetics testing research laboratory. Samples were being sent for screening in another laboratory and the person collecting the samples asked for a control - a blood sample from someone in the lab where the samples were collected. This is screened to make sure there is no contamination of the samples to be tested. The young woman said "I'll give that." When her control sample was screened it showed an unexpected result, what is called an incidental finding, she had a gene for a very dangerous vascular disease, which can result in fatal brain haemorrhages. In fact one of her cousins had died from a brain haemorrhage. The issue became whether to tell other family members that they might also have this gene. They were offered genetic counselling and those who wanted testing were given it. Some proved positive. But the lives of those who chose not to be tested were also changed simply from knowing they could be positive.
I can only mention, here, some of the myriad of questions raised by genetic testing and screening. For instance:
Again, these are relevant to the ethics of WGS of babies' project, but I will only note and not discuss them here. For instance:
We have embarked on a new voyage of discovery into the vast deep inner space of our being, our genetic blueprint, which is both individual and collective. It's not an exploration to be undertaken lightly or without major attention to the ethics of what we do.