Gauchers disease
The UK NSC policy on Gauchers disease screening in newborns
More Information
Gauchers disease is a lysosomal storage disorder that is caused by an inherited deficiency of the enzyme glucocerebrosidase.
» Read more about Gauchers disease on the Contact a Family website
Policy Position
Screening for Gauchers disease should not be offered.
This policy was reviewed in Jul 2006 but no significant changes were made. It is due to be considered again in 2012/13, or earlier if significant new evidence emerges.
Evidence Supporting the Policy
For more information, see the report for the UK National Screening Committee on the meeting held on 3rd June 2004 at Guy’s Hospital: Genetic screening in the Ashkenazi Jewish population - is there a case for more testing? (see below)
Stakeholders
Children Living with Inherited Metabolic Diseases
Genetic Alliance UK
Royal College of Midwives
Royal College of Paediatrics and Child Health
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
