NHS genomics developments give hope to critically ill newborn babies and children but do not address urgent need for newborn screening for leukodystrophy

In response to the recent news this week of the launch of NHS England’s first ever strategy for genomics we wanted to provide information to help make sense of the announcement in terms for what it means for our community.

We hope the below information is helpful but please do get in touch with us if you have any questions, by emailing info@alextlc.org

 

Our statement

Yesterday, NHS England published its 5-year genomics strategy, Accelerating Genomics Medicine in the NHS. The strategy sets out the NHS’s plans to embed genomics across the NHS, building on the progress that has already been made through the 100,000 genomes project and the establishment of the NHS Genomics Medicine Service (GMS). The strategy covers several areas, including plans for genomic testing.

In conjunction with the release of the report, at the first ever NHS Genomics Conference, Amanda Pritchard (NHS England Chief Executive), announced a genetic testing service for severely ill babies and children. This is a welcome development and represents an advance in genomics medicine that will help many children and babies who end up in intensive care.

However, this testing is only available for those who are critically ill. For babies and children with leukodystrophy, diagnosis and treatment prior to symptom onset (at which point irreparable damage has been done) is essential. Newborn screening is the fastest route to diagnosis for babies with leukodystrophy and is not currently available in the UK. We are currently campaigning for ALD to be added to the newborn screening campaign, you can find out more about our campaign by visiting: Newborn Screening Campaign by Alex TLC (screenourboys.org)

 

Claire Hay (IMD Screening Advisory Board Project Manager) Statement

Genomics England’s plans to screen a limited number of babies shortly after birth using newly developed genomic technology in a research project.  It will be organised in a limited number of sites and remains distinct from the national newborn screening programme offered to all babies born and delivered on behalf of the NHS.

It is hoped that the lessons learned from the Genomics England research study will help inform policies aimed to achieve the early detection of children with rare disorders.

 

Metabolic Support UK

Metabolic Support UK have created an infographic to help make sense of the NHSE’s Genomic Medicine Strategy:

 

Click here to read the full strategy: NHS England » Accelerating genomic medicine in the NHS