Patient Charter on Newborn Screening

The UK currently screens for between five and nine conditions as part of the newborn blood spot screening programme, depending on the country, with a pilot planned for one more. This is fewer than most comparable high income countries, many of which screen for between 20 and 50 conditions, and also many fewer than the current tandem mass spectrometry methods used can detect.

Many in our community see the potential of the newborn screening programme to lead to earlier diagnosis of genetic and rare conditions and would like to see it expanded. As the cost of genome sequencing decreases, and the technology becomes more mainstream in UK health delivery, it is valuable to explore the potential for using this technology in the context of newborn screening.

The Project

Our team have brought together approximately 15 leading patient group representatives to engage them in the newborn screening decision making process in the UK and the wider policy and technology context. The work addresses two key questions:

  1. Why does the UK screen for fewer conditions at birth than many other high-income countries?
  2. How could the arrival of new technology change newborn screening in the future?

Both of these questions are being addressed in detail, and the project participants are developing a set of recommendations based on the views, needs and experiences of people living with rare genetic conditions. This forms the basis of the Patient Charter on Newborn Screening.

The Plan

Participants have been selected from Genetic Alliance UK membership and based on expressions of interest and their condition specific interests in newborn screening. Participants received a detailed written briefing in advance of the workshop, which introduced the concept of screening, newborn screening, the UK National Screening Committee (UKNSC) and its decision-making processes.

In late 2018, we held a one-day workshop with:

Presentations from experts in current screening technology and genomic technology
Presentations from the UKNSC secretariat, and a clinician who has recently secured a pilot newborn screening programme
A case study on adrenoleukodystrophy with presentations from a paediatrician and patient representative and the UKNSC
A structured discussion to generate perspectives and priorities around the system, identifying gaps and opportunities, and developing recommendations to be taken forward to review and inform further development of the system.

Since the workshop, feedback and recommendations have been collated into a ‘patient charter’ document, targeted to directly inform the future work of the UKNSC, departments of health and UK NHSs. The patient charter will be circulated to inform patient groups and other stakeholders. This charter will be launched at a panel discussion that will kick-start public affairs work in this area. We will present the opportunity to discuss this to the All Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions, for which we provide the secretariat.

For more information on this project please contact Nick Meade at