Rachel's Interview & Publication

What inspired your research and what did it cover?
When the expanded newborn blood spot (NBS) programme was first piloted, it became apparent that the inter-laboratory variation was greater than anticipated. Laboratories have a responsibility to ensure that the results we provide are accurate and precise, and when I became aware of the differences, I wanted to do something about it. Screening programmes are different to other laboratory tests and in particular, I wanted to make sure that we kept the false positive rate to a minimum. False positive NBS results have been shown to cause increased parental anxiety and stress and also result in an increased number of hospital admissions in the first few years of the baby’s life.   

I started to investigate how inter-laboratory variation could be reduced and this led to a series of four studies over the next 5 years which showed that variation can be reduced by optimising the NBS method, providing traceable standards and a defined approach to calibration.  

Looking at the potential of your findings, what difference can they make?
The findings show that the inter-laboratory variation of expanded newborn screening can be significantly reduced by adopting a common laboratory protocol, traceable standards, and a different calibration approach. Based on this study, the UK Newborn Screening Programme Centre is exploring the national procurement of reagents. This will help to ensure that all babies in the UK receive a standardised test result, irrespective of the laboratory used. Common protocols will also help to reduce the number of false positive screening results and parental anxiety, thus improving the efficacy and safety of the NBS programme.