Evaluation of test accuracy studies in newborn blood spot screening and rare disease settings

Newborn bloodspot screening helps to find babies with rare diseases soon after birth. This means that treatment can start sooner to improve their health. In the UK, there are rules that are used to help the UK National Screening Committee (UK NSC) decide if a new screening programme should start or a current screening programme should change. These rules make sure that both the benefits and harms of screening are thought about.

It can be hard to produce good evidence to support newborn screening programmes. There are lots of reasons for this. For example, researching rare conditions is difficult because there might not be very many people who have the conditions. The signs and symptoms of the conditions might be different from person to person. It can also take a long time to see if babies develop the condition or not and to see if early treatment has helped them.

The aim of this project is to write a paper that describes the kinds of studies that are needed to show how good newborn bloodspot screening is at finding babies with rare diseases. The goal is to help make the studies that are done better so that[EC1][JD2] decisions about starting or changing screening programmes are easier. The paper will show the strengths and weaknesses of different types of studies. We will also show the difficulties for studies that are about finding rare diseases in newborns.

The project will be carried out in four parts:

1. Review of how things are currently done in newborn bloodspot screening. We will examine how studies are being carried out in some recently published scientific studies.

2. Develop a guide. We will make a guide that shows how tests for newborn bloodspot screening should be made and assessed. This will include all types of screening methods including newer ones like genetic testing.

3. Guidance paper for the UK NSC. We will write a paper for the UK NSC that explains the good and bad parts of study designs that are used to understand how good newborn bloodspot screening is at finding babies who have rare diseases.

4. Recommendations for future research. We will make recommendations that will help scientists to make and carry out research that helps the UK NSC.