Where does the future lie for newborn screening? by Professor Alan Thornhill, Country Manager & Senior Scientific Advisor of Igenomix UK

With reference to Should all babies have their genome sequenced at birth?

While I broadly agree that we should be extremely careful about collecting the vast quantities of information related to an entire genome sequence, Professor David Curtis argues that only a ‘tiny number of such conditions require action to be taken before the individual reaches maturity…and processes already exist to test newborns for these conditions.’ Although these actionable genetic diseases may be individually rare, they are collectively common. Furthermore, early detection of these diseases is critical to provide treatment in time to improve the prognosis. In the UK, we screen for nine early-onset, actionable conditions. There is, however, growing support to significantly increase the number of diseases screened for, to reflect the increasing level of knowledge about these conditions, the availability and accessibility of treatment, and to align with newborn screening programmes in other European countries and American states. Professor Curtis goes on to state that ‘we should restrict medical testing of newborns to the small number of conditions for which it is agreed that testing provides a real benefit to them.’ I agree with the logic - the question is, what is that small number? I suspect?that it is almost certainly considerably larger than nine.

I believe that if we want to help an increased number of parents have healthier children and potentially save millions in healthcare costs – we need to screen for an increased number of well-characterised diseases now. Perhaps there is, in the short term, a middle ground between nine diseases and a whole genome (with all its potential value but also potential pitfalls and ethical concerns).