Tay-Sachs Carrier Testing in the UK
Screening is a process of systematically offering a test to a group of healthy people for a condition that is known to be common in that group. The test must be accurate and there must be feasible options for those identified.
Carrier testing for Tay-Sachs disease (TSD) has been done since the 1980s for Ashkenazi Jewish individuals because there is a 1 in 25 chance of being a healthy carrier and because there is no cure for this neurodegenerative, autosomal recessive genetic condition. If both members of a couple are carriers, then there is a 1 in 4 risk of a baby being affected with TSD. Prenatal or pre-implantation genetic diagnosis is available for ‘carrier couples’.
- If you and your partner are both carriers and pregnant, your GP or midwife should refer to your local NHS genetics clinic. In North West London, refer using this form: https://www.lnwh.nhs.uk/download.cfm?doc=docm93jijm4n1128.doc&ver=2163.
- If you have Ashkenazi Jewish descent, have a family history of TSD or have a partner who is a carrier, there are different ways to find out if you are a carrier:
If you have Ashkenazi Jewish ancestry or have a family member who was born with Tay-Sachs disease, or have a blood relative or partner who a is a Tay-Sachs carrier, your GP can send an e-referral to your local NHS genetics service. If you are pregnant, your midwife or GP should refer you without delay. Your family history will be reviewed and then a blood test will be arranged by your genetic counsellor for testing at a specialist laboratory. For information about the North West Thames NHS genetics service, go to:
Carrier screening for 47 significant genetic disorders relevant to individuals with Ashkenazi or Sephardi/Mizrahi origin, including TSD, is available from the Jnetics virtual clinic. This group of tests is done in partnership with the North West Thames regional genetics service and is subsidised by the charity. You can find out more and book an appointment at www.jnetics.org/screening
Details of all options can be found here