The UK NSC recommendation on Gaucher disease screening in newborns (currently in consultation)

 

This recommendation is currently being reviewed as part of the UK NSC's regular review cycle of all policies.

The review process began in Mar 2018 and is estimated to be completed by Apr 2019.

» Download the expert review for Gaucher disease (PDF document, 757KB)

The UK NSC welcomes comments and feedback on the expert review during the consultation period that lasts from 20/11/2018 until 17/02/2019. Please send comments to us by e-mail using this feedback form.

Please note that all consultation submissions will be published on this page when the review is complete. Full details can be found in the confidentiality and disclosure section at the bottom of this page.

Recommendation Systematic population screening programme not recommended
 

Find general information about population health screening.

More about Gaucher disease

Gaucher disease is the most common of a group of conditions called lysosomal storage disorders. It is a rare inherited condition caused by a faulty or missing enzyme used to break down fatty substances from cells. The part of certain cells affected is called the lysosome and the condition leads to the build-up of a fatty substance in cells and organs that become swollen.

The age and severity of symptoms for people with Gaucher disease vary significantly but typical symptoms include bruising, fatigue, low levels of substances needed in the blood (iron and platelets), bone pain and enlarged organs such as the liver and the spleen.

If left untreated the condition can cause multiple problems and in rare, more severe cases can be fatal for newborn babies and infants. There is no cure for the condition but the most common treatment is enzyme replacement therapy and this can often limit the effects of Gaucher disease. 

» For more information on Gaucher Disease visit the Contact a Family website

Stakeholders

British Association of Perinatal Medicine
British Inherited Metabolic Disease Group
Faculty of Public Health
Gauchers Association
Genetic Alliance UK
Metabolic Support UK
MetBio
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
Save Babies Through Screening Foundation UK

The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.

Related documents

icon 2014 Review of Gaucher Disease (consultation version) (PDF document, 621KB, 05/08/14)
icon Ethical, Social and Legal Issues with Expanding the Newborn Blood Spot Programme (PDF document, 2.13MB, 21/08/14)

Confidentiality and disclosure

Information provided in response to this consultation, including personal information, may be subject to publication or release to other parties or to disclosure in accordance with the access to information regimes (these are primarily the Freedom of Information Act 2000, the Data Protection Act 1998, and the Environmental Information Regulations 2004). If you want information, including personal data that you provide to be treated as confidential, please be aware that, under the FOIA, there is a statutory Code of Practice with which public authorities must comply and which deals, amongst other things, with obligations of confidence.

In view of this it would be helpful if you could explain to us why you regard the information you have provided as confidential. If we receive a request for disclosure of the information we will take full account of your explanation, but we cannot give an assurance that confidentiality can be maintained in all circumstances. An automatic confidentiality disclaimer generated by your IT system will not, of itself, be regarded as binding on the UK National Screening Committee.

Any request for information to be treated in confidence will be taken into consideration in the publication of responses to the consultation. The UK National Screening Committee intends to publish all responses following the closure of the consultation period, however we will not publish responses from respondents who request that any of the information in their response, including personal data, should be handled in confidence. The UK National Screening Committee reserves the right not to publish or take into account any representations which are openly offensive or defamatory.

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