Carrier screening (or carrier testing) involves a simple buccal (cheek) swab sample from an individual and testing it to identify if that person is a ‘carrier’ of a genetic condition.
Carriers of recessive disorders are NOT typically affected themselves but are at increased risk of having a child affected by the disorder if their partner is also a carrier of the SAME condition.
Carrier screening helps couples to identify if they are at risk of passing on a severe genetic disorder. This gives them the knowledge to make informed decisions about the various options available to them when planning a family.
It is an important step in family planning and allows you to take control and make informed choices that can protect the health of your future children.
Jnetics recessive screening services do NOT include screening for BRCA mutations. However, if you would like more information about how to access BRCA screening please click here.
The test offered at The Jnetics Clinic covers 47 of the most severe recessive Jewish genetic disorders with prevalence in those with either Ashkenazi or Sephardi/Mizrahi ancestry.
Optional screening for Fragile X Syndrome, a prevalent X-linked recessive disorder is also available for female participants of the Jnetics Clinic.
The disorders covered are:
- Severe, debilitating, incurable and life limiting – many are fatal in childhood
- Inherited in an autosomal recessive manner, except for Fragile X Syndrome
- More prevalent amongst those with Jewish ancestry compared to the general population, except for Spinal Muscular Atrophy
- Preventable via carrier screening
View the full list of the disorders covered, including common symptoms, outlook, carrier frequencies and the associated at-risk populations.
The test involves a simple buccal (cheek) swab. During the appointment, the buccal swab is used to scratch the inside of the cheek 10 times up and down. Participants must remember not to eat, drink (even water), smoke or chew gum 30 minutes prior to their appointment.
Currently, only Tay-Sachs is covered by the NHS for the Jewish community for individuals without family history. The other conditions covered in the Jnetics screening test are only available on the NHS if you have an established family history of a particular condition. In this case, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
Yes, if you have a close blood relative found to be a carrier of one of the conditions Jnetics test for. You can ask your GP to refer you for specific carrier testing following an appointment with your local NHS genetic service.
Please note you would only be tested for this condition and none of the other conditions on the Jnetics screening panel. We still advise individuals to test for other conditions as your carrier status can differ from family members.
If you suspect that you have at least one Jewish grandparent, it is still sensible to be tested. This is because if you have some Jewish ancestry you will have an increased risk relative to the general population, though this will be lower than people of full Jewish descent, it is still advisable to test.
If you have received your results, but can no longer find them then you can request a copy as follows:
– If you were tested between the start of 2017 and 20th February 2024 please email lnwh-tr.nwtrgsclinicalgenetics@nhs.net.
– If you were tested between 2014 and the end of 2016 please email to gst-tr.geneticscorrespondence@nhs.net.
This test detects the vast majority of all genetic changes in the genes we cover. However, this test, as with all genetic tests, cannot detect all possible changes. The screening test detects over 95% of carriers in the Jewish population with detection rates varying slightly across the different conditions.
You will have the opportunity to discuss your results with a dedicated Jnetics genetic counsellor. The implications of being a carrier are more significant if your current or future partner is also a carrier of the same condition. Once you have received your results, if found to be a carrier you will receive information of how to book an appointment with our Jnetics counsellor to discuss the different options available for you and your family.
- With recessive disorders, BOTH partners in a couple need to be carriers of the SAME condition for there to be a risk of having affected children. Where this is the case, with each pregnancy, there is a 25% chance that the child will be affected (develop the condition).
- It is extremely advisable for individuals who are identified as carriers to ensure that the partner is also screened before planning a family.
- If you find out that you are a carrier, it is also suitable to inform their siblings of this. There is a 50% chance that your sibling will also be a carrier of the same recessive disorder themselves.
No. Our current test is suitable if you have Ashkenazi, Sephardi, Mizrahi or mixed ancestry. Our test was updated in September 2021 making it suitable for all sectors of the community, not just those with Ashkenazi Jewish origin.
With the continual advancements in genomic medicine and Jewish genetic disorder research, we cannot rule this out. However, the timing and nature of a future expansion cannot be predicted.
Being a carrier of a recessive condition should not affect your medical insurance. You may however want to check with your insurance provider. Please find details of the Code on Genetic Testing and Insurance here.