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.

Ethical issues raised by WGS

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.

Medical research on babies: research ethics compared with clinical ethics

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.

Is there a “right not to know”?

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:

  • Is it ethically relevant that persons other than the baby screened know the risks and possible harms the baby faces?
  • How might the knowledge affect the way the parents relate to their child?
  • How might it affect the child’s experience of life?
  • What is the ethical relevance of an uncertain prognosis from results that are expressed as probabilities, for instance, the person has a 40 percent increased risk of breast cancer? Likewise, what is the ethical relevance of the uncertainty for any given person regarding what the severity of the disease indicated will be?
  • What is likely to be the impact of living with unavoidable uncertainty? Psychologists tell us this is a difficult psychological state because we cannot know which coping strategies we need to use.
  • There is unavoidable complexity and difficulty for the counsellor in explaining risks and, correlatively for the person’s understanding of them.
  • Physician and Bioethicist, Dr Megan Best, who is researching the ethics of genetic counselling recommends that we ask “What is the goal of counselling?” She explains that, although the received wisdom is that it should not be directive, it is unavoidably directive, so the correct question is whether it is “appropriately directive”.
  • Who gets access to a specialist genetic counsellor, who are in short supply, is a justice issue. Many clinicians and GPs are not adequately trained to understand results or to communicate them, although they can be burdened with doing so. As well, there is mainstreaming of genomic testing to non-geneticists, which raises similar ethical issues.

What are the collateral risks and harms of WSG?

Again, these are relevant to the ethics of WGS of babies’ project, but I will only note and not discuss them here. For instance:

  • Privacy breaches of the stored information: for example, matching with DNA testing undertaken for forensic or criminal investigation purposes.
  • The existence of the information causes prejudice and discrimination on the basis of disability, for example, it blocks access to life or disability insurance, or employment opportunities.
  •  It encourages and promotes “genetic reductionism”, the concept that Genes-R-Us, that we humans and all living beings and things are nothing more than functioning “gene machines”.
  • It furthers the current trend of the medicalization of life –that many difficulties we face, what are sometimes called in law “the vicissitudes of life” are really medical problems that medicine can solve. That stance reflects a view once expressed to me by a physician, that “The well are only the undiagnosed sick.”
  • “Living in the moment” becomes more needed, but more difficult.
  • Certain diagnoses are not just words or information, they are “verbal acts”, words which are not just descriptions but which alter a person’s experience of life.

Conclusion

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.

Note: I benefited by listening to a lecture by my colleague Assoc Prof Megan Best in identifying some of the ethical challenges I identify in this article and express my thanks to her.

Margaret Somerville AM, DSG, FRSC, FRSN, DCL is Professor of Bioethics at the University of Notre Dame Australia School of Medicine (Sydney campus). She is also Samuel Gale Professor of Law Emerita, Professor...