Should Everyone Have Their Whole Genome Sequenced at Birth?
Advances in genomic testing are happening at more and more of a quicker rate right now, and with that in mind we often cast our minds to what the future might have in store.
With this in mind, we took ourselves down to ‘The Great Genome Sequencing Debate’ held at the Royal Institute of London, organised by Roche which posed the ever controversial question – Should everyone have their whole genome sequenced (WGS) at birth?
Chaired by Vivienne Parry, Head of Engagement at Genomics England, it boasted an impressive line-up of speakers who all tackled some of the stickier issues within sequencing head on.
First up arguing in favour of the motion was Anneke Lucassen, Professor of Clinical Genetics in Medicine at the University of Southampton. Her main proposal was that a genome result shouldn’t be regarded as a single result, and instead should be a “resource that is opened or created at birth which is accessed at different times for different reasons, rather than accessed all at once.”
In addition to this, she expressed a need for more appropriate safeguarding and a better understanding of what genetics can and cannot help us with, so that routine gene sequencing at birth can help both healthcare and research in a way that’s currently not possible.
Although she did recognise that database and security issues would need to remain a top priority, she firmly believes that the technology to allow sequencing to take place is here and that we need to harness the advances responsibly within healthcare whilst ensuring potential harm is minimised.
However, she did continue to explain that for all of this to take place trustworthiness in the healthcare system would be essential. “The key to an integrated approach is ensuring ethical complexities are dealt with alongside scientific and service delivery issues,” she said.
“In summary, the technology to deliver whole genome sequencing at birth is here at an affordable cost, and rather than allow a Wild West approach of genetic testing I think we should consider a genome as a resource accessed over time,” she concluded.
“We need to influence a discourse of genomics and place it in a more realistic context of other biometric measurements, only a minority of which are clearly diagnostic or predictive. We must enhance the trustworthiness of institutions offering WGS so that participants can be confident that they won’t be invaded or discriminated against, and then we can maximise the benefit of WGS in a responsible manner integrated with research clinical practice and innovation.”
Next up, arguing against the motion was Kat Arney, an award-winning science writer, broadcaster and author. She was calling for more research, so that we are able to start unpacking what it is that we still don’t know what exists between genes, and why it makes us how we are.
As a result, she believes that we just don’t know enough to be carrying out WGS at birth. “Most of the traits we have are not just one gene, and therefore not one broken gene is one disease,” she explained. “Most of your genome isn’t even genes, less than 2% of DNA is actual genes, and rest is non-coding DNA.”
She continued to explain how we actually know very little about how our genetic changes and variations link to disease and conditions, which makes it hard to map together. Of course, the most obvious point of argument would be to ask what would actually be done with all the gathered information. “We cannot take single genetic changes in isolation; we need to know more about how a person’s whole genome works together.”
With the trend of epigenetics on the rise, which effectively is all the extra information on top of DNA that reflects how our genes work, Kat stated that there is also still so little we know about that. We pick up a lot of these changes throughout our lifetime, “so this won’t be reflected at birth?” she explained. As a result, at the end of her talk she reinforced her view that she doesn’t think that WGS at birth, right now or in the foreseeable future is a good idea.
Next up, opposing that discussion was Robert Green, Director of the Genomes2People Research Program in translational genomics and health outcomes in the Division of Genetic at Brigham and Women’s Hospital, the Broad Institute and Harvard Medical School.
“I don’t think that sequencing babies or adults has reached the point where it should be standard or care advised as a public health imperative,” said Green. “But, I do think we have reached the point of potential where families and adults should have the right to obtain information for themselves – but how?”
He believes we have entered an era where we have a right to know information. “We are never going back from that,” he noted. “There is of course potential for abuse, but it the responsibility of the scientific community and medical profession to educate themselves about what is nonsense and what is legitimate, this is a responsibility that comes with a new era.”
“Why would we leave things to chance, when we don’t need to?” he asked a number of times. To further support his argument, he referred back to some evidence gathered from projects of his own. Although incomplete, there is strong evidence that people who want to acquire the information do quite well with it, and more or less get benefits from it, rather than using it to cause harm.
Taking the stage last was Dr Tara Clancey, a Consultant Registered Genetic Counsellor and Honorary Senior Lecturer at the Manchester Centre for Genomic Medicine. She was sure to stress that “if you are able to pull out all the stops, and get sequencing completed in 24 hours, it should be made clear that you don’t get the interpretation or analysis in 24 hours.”
She went on to discuss a number of problems that would arise during WGS at birth, including the reinterpretation of data, limited resources, as well as data storage.
However, although she concluded that she was unable to justify WGS for babies right now, she did suggest that she could be more persuaded by targeted sequencing. The premise of which was based on being able to filter down the data that is associated with childhood onset when looking at sick babies within neo-natal or paediatric care.
The debate opened up an interesting line of conversations, all of which definitely got us thinking. We always love to hear from you, so let us know your views below!