This statement is common knowledge for many within the IMD community. Over the years we have seen the impact that earlier diagnosis can have through the development of newborn screening and medical advancements. Yet we continue to see the impact of the lengthy diagnostic odyssey that many face and newborn screening is an important topic for our community.  

Some conditions are screened for in other countries, but not in the UK, which means we are missing out on opportunities for early diagnosis and interventions that improve outcomes. 

There are many conversations around newborn screening; impact, geographical disparities, which conditions are included, and one vital topic is the process of adding a condition to the UK Newborn Screening Panel. 

The UK NSC holds an annual call for conditions, “topics”, to be considered for inclusion in screening panels. This includes the newborn screening panel but also encompasses other screening programmes, such as breast cancer screening. There are three proposal options: 

1. Proposals for new topics 
2. Early updates of topics that the UK NSC has considered in the past 3 years 
3. Proposals to modify or cease existing screening programmes.

For a 3-month period each year anyone can submit a new proposal. 

The UK NSC provides helpful guidance for each type of submission and for writing a proposal including a full example. But it’s perhaps not as simple as it sounds. Some of the asks within these guidelines can be daunting, laboursome, and difficult to understand with the requested data being even harder to collect. 

For example, one ask that is perhaps harder for rare conditions is to include evidence from “randomised controlled trials (RCTs)”. RCTs are usually trials where people are randomly assigned to two different groups. The first group receives the intervention that is being tested, and the other group is known as the control group receiving the conventional treatment or lack thereof. The UK NSC acknowledge that this is not available for some rare conditions and provides a link to some alternative evidence types. 

This year, the annual call is open until the 30th of September 2024. 

The Foetal, Maternal, Child Health (FMCH) expert group and Adult Reference Group (ARG) will propose the next steps for the submissions received and final decisions will be made in collaboration with the UK NSC. 

The selected “topics” will be included in the next work plan, which will be agreed with the chief medical officers (CMOs) from the four countries; England, Scotland, Wales, and Northern Ireland). 

You can check to see the current recommendations for screening here: https://view-health-screening-recommendations.service.gov.uk/  

You can see a summary of previously given evidence and any reviews, including if a topic is currently open to public comments. These recommendations are usually reviewed every 3 years. 

Find out more on the gov.uk website: https://www.gov.uk/government/publications/uk-nsc-annual-call-submitting-a-screening-proposal/uk-nsc-annual-call-how-to-submit-a-proposal