How Many Diseases Should Newborns Be Screened For? Interview with:
“Newborn” by Brad Carroll is licensed under CC BY 2.0Dr Sian Taylor-Phillips MPhys, PhD
Associate Professor Screening and Test Evaluation /
NIHR Career Development Fellow
Division of Health Sciences
Warwick Medical School
University of Warwick Coventry What is the background for this study? What are the main findings?

Response: In newborn blood spot screening a small amount of blood is taken from newborn babies heels, and this is tested for a range of rare diseases. The idea is to detect each disease earlier when it is more treatable. However, it would be better not to test for some diseases, for example if the test is inaccurate so worries parents that their baby may have a serious illness when they do not. Some countries test for as few as 5 diseases and others as many as 50. In this study we investigated how different countries choose which diseases to test for.

We found that many national recommendations on whether to screen newborn babies for rare diseases do not assess the evidence on the key benefits and harms of screening. Evidence about the accuracy of the test was not considered in 42% of recommendations, evidence about whether early detection at screening has health benefits was not consulted in 30% of recommendations, and evidence around the potential harm of overdiagnosis where babies have variants of the disease that would never have caused any symptoms or ill effects was not considered in 76% of recommendations.

We also found through meta-analysis that when a systematic review was used to bring together the evidence then countries were less likely to recommend screening for the disease. What should readers take away from your report?

Response: To make sure that screening programmes do more good than harm we should systematically review the research evidence. This should include all of the benefits and harms of screening, such as whether treatment is more effective if the disease is detected earlier at screening, whether the test is accurate enough, and what other harms may be caused including overdiagnosis. Historically, this hasn’t happened in many countries for the newborn blood spot test. What recommendations do you have for future research as a result of this work? 

Response: We should pool resources internationally to undertake systematic reviews to summarise the evidence about which conditions to screen newborn babies for. Then each country could interpret these reviews in light of the local disease prevalence, healthcare systems and resources. Is there anything else you would like to add?


Response: Our full report is published in the BMJ and is freely available here 


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Last Updated on May 10, 2018 by Marie Benz MD FAAD