newborn screening programme
Gaucher disease
Gaucher disease is a rare genetic condition. It occurs when the body is unable to break down fatty substances inside cells. This causes the fatty substances to build up and organs to swell.
There is no cure for the condition but treatment is available.
Read more about Gaucher disease on the Contact a Family website.
UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in April 2019.
Screening for Gaucher disease is newborns in not currently recommended. This is because there is no evidence that screening would improve the outcomes of children with Gaucher disease.
Supporting documents from the 2019 review
Evidence summary Gaucher disease (2019)
This document provides the evidence on which the current UK NSC recommendation is based.
UK NSC coversheet & consultation responses Gaucher disease (2019)
This document summarises the review process including the public consultation comments.
Review cycle
Date previous review completed: 2019
Next review estimated to be completed: 2022 to 2023.
To see previous evidence reviews, visit the UK NSC archive.
Organisations interested in Gaucher disease
These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.
List of organisations
- ArchAngel MLD Trust
- British Association of Perinatal Medicine
- British Inherited Metabolic Disease Group
- Faculty of Public Health
- Gauchers Association
- Genetic Alliance UK
- Metabolic Support UK
- MetBioNet
- MPS Society
- Royal College of General Practitioners
- Royal College of Midwives
- Royal College of Paediatrics and Child Health
- Royal College of Physicians
- Royal College of Physicians and Surgeons of Glasgow
- Royal College of Physicians of Edinburgh
If you think your organisation should be added, please contact us.