Tay Sachs disease (policy currently in consultation)
The UK NSC policy on Tay Sachs disease screening in pregnancy
More Information
Tay Sachs is a life-threatening, progressive, genetic, lysosomal storage disease. Like all metabolic diseases there is a block because a catalyst or enzyme, necessary to perform essential chemical reactions in the body, is absent or malfunctioning. This defect results in the build up of chemicals on one side of the metabolic blockage and a deficiency of vital chemicals on the other. In this case the enzyme concerned is hexosaminidase A (hex-A). In its absence a lipid GM(2) ganglioside builds up abnormally in the body. The nerve cells in the brain are particularly affected.
» Read more about Tay Sachs on the Contact a Family website
Policy Position
Screening for Tay Sachs disease in at-risk populations is supported by the UK NSC. The UK NSC have asked specialized commissioners to assist in ensuring that that those who are at risk should have access to genetic testing.
When replying to the current consultation, please use the comments form that you can download at the bottom of this page.
This policy is currently being reviewed as part of the UK NSC's regular review cycle of all policies.
The review process began in Oct 2010 and is estimated to be completed by Mar 2013.
» Download the expert review for Tay Sachs disease (PDF document, 701KB)
The UK NSC welcomes comments and feedback on the expert review during the consultation period that lasts from 4 May 12 until 3 Aug 12. Please send comments to Esther Rose
When replying to a consultation, please state whether you are happy for your views to be made public on the UK NSC website or whether you would prefer them to be seen by UK NSC members only. We will assume comments can be published on the website unless told otherwise.
Evidence Supporting the Policy
Genetic screening in the Ashkenazi Jewish population - is there a case for more testing? (Feb 2005 report) (see below)
Stakeholders
Royal College of Obstetricians and Gynaecologists
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.
Related documents
Consultation submission comments form - Tay Sachs (Word document, 48KB, 04/05/12)Genetic screening in the Ashkenazi Jewish population - is there a case for more testing (2005) (PDF document, 1.89MB, 27/05/11)
Knowledge update on screening for Tay Sachs (October 2010) (PDF document, 71KB, 13/09/11)
