New born screening in the UK what to test for and how?

Screening of newborns for disease has been performed in the UK using heel pricks and blood spots since the mid-1960s, and has been the responsibility of the UK National Screening Committee since the mid-1990s. 

 

However, only nine conditions are currently screened for in this way in UK newborns. This is fewer than in other high-income countries in Europe and elsewhere, where the number of conditions screened for in newborns often exceeds 20 or 30. The comparison becomes even starker if secondary conditions (detected as a corollary of detecting a primary condition) are included, whereupon the number of conditions screened for overseas may exceed 40 or 50. 

 

In recent years, patient groups and others have asked for new conditions to be added to the nine that are currently screened for, but this has not been done. The use of whole genome sequencing for newborn screening is due to be piloted in the UK , and could yield great benefits, but that approach will take substantial time to be developed, assessed and rolled out nationwide. 

 

In the meantime, an urgent discussion remains to be had about the conditions that should be screened for in the here and now, using established methods. Some argue that opportunities to detect rare diseases are currently being missed in the UK, including in instances where early intervention – before symptoms appear – could drastically improve outcomes for affected children. 

 

The progress educational trust have run a series of webinars to explore The progress educational trust in a series of webinars explores how whole genome sequencing might, in future, be offered routinely for newborn babies in the UK.