Genome sequencing at birth: sophisticated care or ethical nightmare?

Chloe Kent and Chris Lo 24 March 2020 (Last Updated March 31st, 2020 14:54)

UK secretary of state for health and social care Matt Hancock plans for the NHS to start offering genome sequencing at birth alongside routine health checks. Genomics England is running the programme in a pilot form in 2020, and it could be widely available in as few as three years. Could this be the next frontier in modern medicine, or is it a huge breach of personal privacy? Writers Chloe Kent and Chris Lo present the cases for and against.

Genome sequencing at birth: sophisticated care or ethical nightmare?
The reaction to Matt Hancock’s plans from doctors and other expert observers could charitably be described as ‘mixed’. Credit: Shutterstock

Chloe Kent; Genome sequencing could be the future of medicine, but offering it unregulated at birth is immensely reckless

Genome sequencing at birth means that when a child is just days old, clinicians will be able to provide their parents with a detailed health profile about them. This would identify any inherited diseases they may have and map out whether they have a high risk of illness in later life. It could allow them to undergo health interventions at an earlier stage and make serious illnesses less debilitating, as well as aid medical research.

But what happens to that data once it’s taken?

On the one hand, it sits dormant in someone’s medical record and allows them to access more personalised and sophisticated care when necessary. On the other hand, there’s a distinct lack of regulation about what can be done with the data outside of a doctor’s surgery.

Employers in the UK are able to gain access to their employees’ medical records for a number of reasons, including to see if the employee has a physical or mental health condition that may impair their ability to do their job or to establish an underlying reason for frequent absences. Should a person’s medical record include genomic information, would this be available to their employee too? If a person’s work entails being in potentially distressing situations, and their employer assesses their genomic data and sees they’re at a supposedly high risk for anxiety, could this be used as justification to terminate their employment?

Hancock and his associates haven’t been clear if the data could be made available to third parties, and information about the possibility of identifying an individual from their genomic profile is distinctly lacking.

Alongside this, genomic disease risk data is far from infallible – someone could be at high risk of anxiety and never develop the condition. Hancock himself underwent a genome sequence, which identified him as having a 15% chance of developing prostate cancer. This is classed as high risk, but when one in eight men in the UK are diagnosed with prostate cancer over the course of their lifetime it doesn’t seem nearly as shocking.

Alongside some eyebrow-raising questions about personal privacy, wider concerns can be raised about the necessity of such information in the first place.

Genomics England has helped the families of a number of already sick children identify a root cause for their condition, and this is obviously a development to be celebrated. But, if a healthy child is marked at birth as having a high lifetime risk of a later-life disease like prostate cancer, what is realistically gained from this knowledge?

This kind of information would be a huge and unnecessary emotional burden for new parents – “Look at this beautiful new life you’ve created; here is how it appears most likely to be snuffed out”. Then comes the ethical dilemma of whether or not to pass this information onto a child when they become old enough to understand what it means. It’s entirely unknown what it could do to a person’s psyche to pass through life with a personal list of metric disease risks hanging over their head. If a serious genetic illness like Huntingdon’s disease runs in a family, doctors will not test the children born into it to determine their risk for these precise reasons.

Offering genomic sequencing to every child, healthy or not, seems like a massive oversight. Genomics England has noble ambitions, but it seems more reasonable to collect this data only on seriously ill children, and offer sequencing to the public at large when they are 18 years old and consent to the procedure themselves.

Chris Lo; The ethical risks are real, but proceeding with caution is better than giving up at the starting line

When, at the Genomics England Research Conference in November, UK health secretary Matt Hancock announced plans to work towards a future where all newborn babies will routinely be offered whole-genome sequencing, the reaction from doctors and other expert observers could charitably be described as ‘mixed’.

In truth, the response appeared to skew far closer to the negative than the positive as the complex bioethical concerns started rolling in: how can a newborn baby give consent to such a procedure? How clinically useful would knowing a person’s long-term genetic risks be, and would revealing them to the patient cause unnecessary distress? How could this precious personal data be secured? Would genomic information end up in the hands of health insurers, which could exploit it to jack up premiums?

In fact, on the website of Pulse, the UK’s historic magazine for GPs, some objections (all made by registered doctors in the comments section) were significantly more extreme than that, conjuring images of “ghoulish right-wing eugenics” and the Conservative Party realising its ambitions for the “ultimate class system”.

Paranoid fantasies (no doubt fuelled by justified anger at the NHS’s treatment under recent Tory governments) aside, all of these concerns are valid and important. The concept of offering whole-genome sequencing to all newborn babies brings with it a hellish tangle of ethical conundrums. But too many of the knee-jerk reactions to Hancock’s announcement smack of defeatism – as if identifying the problems also assumes that those problems are unsolvable. They are not.

For every issue, there are potential solutions. Babies are clearly unable to give informed consent to have their genome sequenced, just as they cannot consent to any medical procedure, nutritional plan or parenting strategy they are subjected to in daily life. But certainly rules could, and should, be introduced in any universal newborn screening programme to carefully control access to results, allowing individuals the option to access non-essential genetic findings (such as long-term health risks, for example) if they opt in once they’re old enough to make that decision.

This would also help to mitigate concerns around causing undue anxiety because of disclosures about long-term health risks – ethical nuances such as this are already being tackled by Genomics England’s 100,000 Genomes Project, which allows participants to opt in or out of receiving secondary findings not directly related to their cancer or rare disease. Participants can also withdraw consent for their data to be used at any time.

And then, of course, there are the potential benefits, talk of which has tended to be washed aside by the tide of pessimism that greeted Hancock’s announcement. The NHS’s heel prick test currently screens all infants for nine rare genetic and metabolic conditions at birth, including the likes of cystic fibrosis, sickle cell disease and congenital hyperthyroidism. This compares to 34 conditions screened for in the Netherlands, 43 in Italy and 28 in Australia. The UK has fallen behind many other advanced nations in identifying and diagnosing the approximately 3,000 babies a year who are born with a treatable, early-onset disease in England and Wales alone, and whole-genome screening would allow for new conditions to be quickly included.

A US study of newborn genomic sequencing called the BabySeq Project, which published its initial results in January last year, unexpected childhood-onset disease risks were identified in nearly 10% of the 159 babies screened. In many cases, early preventative care or even simple dietary changes can massively improve outcomes and spare children from lengthy and potentially arduous diagnostic journeys such as the one taken by Columbia University research associate Jeremy Michelson, who spent his first 17 years bouncing between US medical centres before genomic sequencing finally revealed his rare case of Tarui disease.

Other potential benefits are too numerous to list here, from discovering new clinically relevant genes and gleaning new insights from anonymised genetic data to knowing years in advance which drugs will create an adverse reaction in patients.

None of these benefits override the real and justified concerns over the use and governance of genetic data. Clearly, steps will need to be taken to secure this sensitive information and manage it in a way that allows medical systems to leverage its immense promise for personalised, predictive healthcare without inadvertently creating victims. No one wants a future in which people are pigeonholed by their own genes, but to assume the worst before we’ve even set off from the starting line would be a colossal case – for want of a better expression – of throwing the baby out with the bathwater.