Plans for the National Health Service to sequence the DNA of every baby born in the UK, starting with a pilot scheme of 20,000 children, were announced by health minister Matt Hancock this week. It sounds like the UK is leading the way in high-tech healthcare – but doctors are saying the idea is ethically questionable.
Babies are already tested for certain health conditions soon after birth, so it may seem as though sequencing their genome, their entire set of genes, is a simple upgrade of this routine screening, but that isn’t the case.
UK babies are tested for nine carefully selected conditions, all of which can be avoided or lessened with pre-emptive treatment. For instance, the metabolic disorder phenylketonuria can cause brain damage, but this can be avoided through a low-protein diet.
Unfortunately, most illnesses aren’t as simple or treatable. We are only at the beginning of our journey to understand the complexity of the human genome, and some of the information we have learned so far can create difficult dilemmas.
Take the genetic condition Huntington’s disease, which starts with mild symptoms in middle age, eventually progressing to severe disability and early death. There is no cure.
When people learn that Huntington’s is in their family, they may spend years deciding whether to take the test. Many choose not to. Parents who ask doctors to test their child are turned down, as set out in international guidelines. Deciding to learn if you have the gene responsible is such a personal choice that it must be left to the individual concerned once they turn 18.
Huntington’s is rare, but there are similar dilemmas over more common conditions such as genes that predispose people to Alzheimer’s disease and some types of cancer. There is currently little you can do to avoid dementia, and for women who learn they have a certain gene that increases cancer risk, the safest step is to have their breasts and ovaries removed.
Some people would rather not know about these risks before it is necessary. “We have endless discussions about [the ethics of] testing children for conditions that don’t manifest until later life,” says Frances Elmslie of the British Society for Genetic Medicine.
Nor would it make sense to sequence children at birth then wait until they are 18 to give the results. In the intervening years, DNA sequencing is bound to become cheaper and more powerful. “It would make more sense to offer it to every 18-year-old,” says Martin Brunet, a family doctor in Surrey, UK.
There is a small group of children for whom genome sequencing can be useful: those with rare undiagnosed medical conditions. In one study, sequencing led to a diagnosis in a fifth of children in intensive care, and that figure is likely to improve over time. In these cases, parents can consent for their children because there is a medical benefit – but that is very different to sequencing everyone out of curiosity.
A US group has begun a small trial of routine genome sequencing of healthy babies. The families are being monitored to see how they cope and to measure any harms and benefits.
No details are available about the UK plans and Hancock didn’t respond to New Scientist’s requests for comment. But introducing sequencing for everyone is a massive step. It will require public consultation over the ethical questions – not to mention on practical issues like how the data will be stored securely and the impact on doctors’ workloads, says Elmslie. “We need to think really carefully about this.” More on these topics:
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