Through the Wellcome Centre for Ethics and Humanities (WEH), Oxford Population Health organises important public dialogues on emerging technologies that could transform healthcare. As part of the national 2021 Being Human Festival of the Humanities, on Wednesday 17 November WEH joined forces with the Centre for Personalised Medicine (part of the Wellcome Centre for Human Genetics at the University of Oxford) to host Familial Fortunes: a lively discussion at Modern Art Oxford (and livestreamed on YouTube) on whether whole genome sequencing (WGS) should be rolled out across the NHS for every baby born in the UK. Proponents argue that this would significantly increase the number of diseases diagnosed at birth – potentially saving patients from distressing diagnostic odysseys - but, as the event demonstrated, it could also have far-reaching ethical, social and economic consequences.
During the evening, science writer and broadcaster Vivienne Parry (BBC Radio 4, Panorama and Tomorrow’s World) led the audience through a range of fictional scenarios that illustrated the broad range of issues that WGS could open up. These were explored in detail by our panel of experts: Professor Mike Parker (Director of WEH); Professor Anneke Lucassen (Director, Centre for Personalised Medicine, University of Oxford); and Dr Sarah Wynn (CEO, Unique: a charity for those affected by rare chromosomal and gene disorders).
When it comes to wanting to know if your child will develop a disease, context clearly mattered to the audience. While most of the attendees said they would want a diagnosis as soon as possible if the disease could be treated, opinion was more divided for incurable conditions. Some wanted to be warned in advance, whereas others said they would prefer the critical bonding period with their child to be carefree. But as Dr Wynn noted, even if a condition can’t be treated, early diagnosis could still be beneficial: ‘Being able to access information and talk with other families experiencing the same disease journey is very important to help relieve feelings of isolation, confusion and grief.’
Uncertainty was also highlighted as a key issue, since many genetic variants do not clearly predict whether or not an individual will develop the disease in question. Several raised concerns that WGS could generate ‘false positive’ diagnoses, leading to unnecessary treatment and worry. ‘There is often an expectation that our genetic code will predict diseases with great accuracy, but this is quite rare. Much of our genetic code results in only vague predictions. We need to get better at communicating uncertainty about genetic findings’ said Professor Lucassen.
The panel also explored how WGS of newborns could have wider impacts, rippling out across entire families. Whilst this could be a positive thing, for instance in identifying at-risk relatives and assisting family planning, it could also lead to difficulties if some relatives do not wish to know their genetic risk, or cannot be traced. And given the current pressures the NHS is under, is introducing WGS the best use of resources? Could other initiatives – such as universal free school meals – bring greater societal benefits?
Nevertheless, a WGS database would be an immensely valuable research tool that could help us better understand the links between genes and disease, and develop targeted therapies. But this prompted many questions about who should manage this data, and how secure it would be. Should access be limited to researchers, or should other organisations be able to use it – including pharmaceutical companies, public bodies, even the police? As Professor Parker said: ‘We need to be asking now what kind of health service we want in the future, and what ‘excellent care’ means in relation to our personal data and how it is used.’
Besides this, many parents might also be curious to know what their child’s genetic profile predicted for other attributes beyond disease risk, such as appearance, intelligence, sporting prowess or musical abilities. One of the most hotly-disputed questions of the event was how much parents should be allowed to know: would it harm for them to know trivial things, or could this overly impact a child’s upbringing, particularly if private companies start offering ‘genomics-enhanced’ parenting advice?
Based on the interactive polls and audience feedback, the event was a success in demonstrating just how complex the issue of WGS is:
‘I had heard about whole genome sequencing before, but had not thought deeply about the ethical implications. I am glad to have taken part in such an important discussion’ Ted, audience member
‘The event brought up unexpected questions I hadn’t considered before – I left with more questions than when I came. It was very interactive, and I am definitely curious to learn more about this issue.’ Amy, audience member
As Professor Anneke Lucassen concluded: ‘This clearly shows that introducing WGS on newborns cannot be a hasty decision – there needs to be a thorough public dialogue involving all the groups concerned.’