By the end of the next 10 years, the UK’s National Health Service (NHS) is aiming to test the DNA of every baby born, as part of plans to better predict and prevent disease and reduce pressure on healthcare services.
Babies born in the UK already receive the newborn blood spot test (also called the heel prick test), which tests for nine rare conditions. Under the new plan, a blood sample will instead undergo whole genome sequencing, which maps out the entirety of an individual’s DNA and can help to identify genetic diseases, as well as genetic variants that may put someone at an increased risk of developing other particular diseases.
It’s part of a wider shift by the NHS towards personalized medicine, which aims to utilize a whole range of information about a person – including their DNA, but also environmental and lifestyle factors – in order to cater medical care to them as an individual.
This can help them to receive more suitable, personalized diagnoses and treatments, but there’s also a big focus on predicting and preventing disease in the first place. By testing newborns, the plan aims to stop disease before it happens, or at the very least, intervene much earlier. Theoretically, this should not only help give people healthier lives of higher quality, but also reduce pressure on a healthcare system that’s set to face an increasingly aged population.
“The revolution in medical science means that we can transform the NHS over the coming decade, from a service which diagnoses and treats ill health, to one that predicts and prevents it,” health secretary Wes Streeting told The Telegraph.
“Genomics presents us with the opportunity to leapfrog disease, so we’re in front of it rather than reacting to it […] With the power of this new technology, patients will be able to receive personalised health care to prevent ill health before symptoms begin, reducing the pressure on NHS services and helping people live longer, healthier lives.”
In many ways, this is an exciting development – but it’s one that also comes with a number of ethical issues.
One of the major concerns is data privacy and security, something that’s repeatedly been brought to wider attention with direct-to-consumer DNA testing company 23andMe, particularly with the news of its sale. It’s worth pointing out, however, that the NHS already has a framework in place for the secure handling of genomic data, with access heavily restricted and identifying data, like names, only seen by the team providing care.
Other key ethical dilemmas revolve around consent, confidentiality, and what clinicians and parents tell children. As babies, it’s their parents or carers who’ll be making the decision as to whether or not they get tested, and what clinical care they might or might not receive based on test results. When – if at all – do you tell a child about any significant results? What happens as they get older, and are able to consent themselves – or not? What if the results have implications for other family members, too?
These are questions that people have long been working on answering, with research projects such as the 100,000 Genomes Project and, more recently, the Generation Study, ironing out not just the scientific elements of how routine whole genome sequencing might work on a wider scale, but also the potential ethical hurdles.
The next decade will undoubtedly uncover problems not picked up by this research – that’s to be expected when you scale something up from 100,000 babies to potentially millions. Still, 10 years is a decent chunk of time to figure those problems out – and if all eventually goes well, this is a development that could be truly transformative.
[H/T: The Telegraph]
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