Would you want to know your child's future health prospects from birth? A groundbreaking trial of whole-genome sequencing of newborns is finally starting to reveal the benefits - and challenges - that it brings to the whole family
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ALYSSA CARTER had just given birth when a doctor asked if she would like to find out more about her baby’s genes. With a few spots of blood, researchers could sequence her son’s whole genome. She would receive a report that predicted various aspects of her baby’s future health. “I eagerly signed up,” says Carter. But although she had been briefed on the possible outcomes, it hadn’t occurred to her that there might be bad news. When she saw the results, her stomach lurched.
In the 21 years since whole-genome sequencing was first applied to humans, it has become a powerful tool – instrumental in tracking disease outbreaks and diagnosing mysterious conditions. But as the technology evolved, so too did an extraordinary idea. What would happen if we knew the intimate details of our entire genome from birth?
The implications are a minefield, said ethicists. Who will have access to the data? Will it be useful? How will it affect parents and children over the course of their lives? The benefits could be worth the risk, said others. What if we could spot diseases before they took hold or help someone avoid a risky behaviour? Could it even mean the difference between life and death? The way to find out was to run a unique trial.
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