June 29, 2022

UK babies may have their whole genome sequenced at birth

In the UK, as in many other countries, hospitals routinely conduct a heelprick blood test on newborns shortly after they are born. The blood sample is used to test for nine rare but serious conditions. Babies who test positive can be treated early, and, in some cases, preventing severe disability or even death.

But the National Health Service wants to expand this service by sequencing the whole genome of babies in the hope of capturing more rare diseases. A pilot project is being rolled out this year.

The goal is improved health through early diagnosis. But universal whole genome sequencing also could lead to treatments for rare diseases and to more effective preventative measures for cancer and heart disease. But as a feature in The Economist points out, it raises troubling ethical issues as well:

Widespread screening for thousands of potentially harmful genes may be counterproductive: some results may worry parents unnecessarily, because some genetic variations, though occasionally indicative of disease, are not strongly so. Parents may not want to unlock all the secrets that their newborn’s genome might reveal. Some may indeed prefer not to know about conditions that cannot be treated. Adult-onset illnesses pose a different dilemma—a reasonable position is that it should be up to the children themselves, once grown, to decide whether they want to look at their genomic information. A further concern is that data will not be kept secure, and may be leaked or otherwise misused at some point in the future.

Genomics England, which will be running the pilot study, is surveying people about which principles should guide the choice of conditions for which children will be screened. There are an estimated 7,000 rare diseases, most of them genetic.