This Jnetics community programme offers carrier screening for a group of severe genetic disorders that are of particular relevance to people of Ashkenazi Jewish ancestry. Working in partnership with Liverpool Women’s Hospital and Northwick Hospital, the service offers responsibly delivered private screening for 9 of the most severe Jewish genetic disorders.
Jewish people, as with all ethnic groups, are at greater risk of inheriting certain genetic conditions relative to the general population. Many people have heard of Tay-Sachs, but research has identified other serious genetic disorders that disproportionately affect people of Ashkenazi Jewish origin.
Like Tay-Sachs, these can also potentially be prevented through effective carrier screening.
Carrier screening involves taking a saliva sample from an individual and testing it to identify if that person is a ‘carrier’ of a genetic condition.
Carriers of recessive conditions are NOT affected themselves but are at high risk of passing on a genetic disorder to their children if their partner is also a carrier of the SAME disorder.
While Jewish genetic disorders vary in severity, those covered in the Jnetics screening programme can all be very debilitating, almost all cause shortened lifespan and a few, like Tay-Sachs, are fatal in childhood.
1 in 5 people of Ashkenazi Jewish descent are a carrier of at least one of the main Jewish genetic disorders
Though rare, these conditions are devastating and most lack any effective treatment at this time – and typically occur even when there is no family history.
Carrier screening helps you to identify if you are at increased risk of passing on a severe genetic disorder and enables you to consider the different options available to reduce the chances of having an affected child.
Registration – before the screening day, register on-line to book your preferred time slot.
Information review and consent – on arrival during your pre-booked session, you will be given a screening leaflet to read and a consent form to complete. A Jnetics screening advisor will then review these materials with you, answer any questions, and ask you to sign the consent form confirming your agreement for screening to proceed.
Giving a saliva sample – at the event, you will provide a saliva sample which will be sent off to the Genetics laboratory at Liverpool Women’s Hospital for processing. PLEASE DO NOT EAT, DRINK, CHEW GUM OR SMOKE FOR 30 MINUTES PRIOR TO YOUR APPOINTMENT.
Receiving results – you can expect to receive a results letter from the Jnetics dedicated genetic counsellor based at Northwick Hospital between 8-10 weeks after the screening day. If you are a carrier of one of the conditions, it will be possible to contact the genetic counsellor at Northwick Hospital for further information, advice and referrals, if relevant.
Screening is available for anyone aged 16 and over and who is of Ashkenazi Jewish descent (having at least one Ashkenazi Jewish grandparent).
The test is particularly relevant for people who are currently, or at some point in the future, planning to start or expand their existing family.
The disorders covered in this community screening programme are listed below - for more information about each, click on the disorder names.
(among Ashkenazi Jews)
|Tay Sachs Disease||1 in 25|
|Cystic Fibrosis||1 in 25-29|
|Familial Dysautonomia||1 in 30|
|Canavan Disease||1 in 40-57|
|Glycogen Storage Disorder (type 1a)||1 in 71|
|Fanconi Anaemia (type C)||1 in 89|
|Niemann-Pick Disease (type A)||1 in 90|
|Bloom Syndrome||1 in 100|
|Mucolipidosis IV||1 in 100-125|
The cost of testing for all 9 disorders is £190 per person.
This directly covers the testing costs incurred by Liverpool Womens Hospital. Additional costs involved in delivering the service and providing counselling support are being subsidised by Jnetics in order to keep the price of the screening as low as possible.
Payment needs to be made EITHER:
The laboratory will not process samples without payment so this needs to be received by Jnetics before the screening event or on the day itself at the absolute latest.
As screening capacity is limited, we strongly recommend that you register in advance to guarantee a place.
Jnetics would like to thank the siblings of Alan Naftalin who kindly donated funds in his memory and to donors from the Jnetics Nov 13 dinner for their support with the set-up of this service.
Please click on the titles to open and close the following information sections.
Currently, only Tay-Sachs is covered by the NHS for the Ashkenazi Jewish community. The other conditions covered in the Jnetics screening test are not available on the NHS unless 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 you can, but since places may be limited we strongly recommend pre-booking - this is the only way we can guarantee that a screening slot will be available for you on the day and reduce potential waiting time.
Payment in advance is preferred but it is possible to pay at the event by cheque written out to ‘Jnetics’ for £190 for one person or £380 for a couple.
Some screening venues have Internet access to enable a bank transfer to be made, but not all. As such, if you want to pay by bank transfer, please do so before the screening event (to Jnetics: sort code 08-92-99; account no. 65381447) – putting your name as the reference.
If you arrive after your pre-booked time slot, we will still try and fit in your screening but it is likely you may need to wait until the people who have arrived on time have been seen. Please do try to arrive on time to avoid waiting.
Carrier testing for the Jewish genetic disorders covered in the Jnetics screening programme is very accurate, although it is important to note that no test is ever 100% accurate.
This screening test detects between 93%-99.5% of carriers in the Ashkenazi Jewish population with detection rates varying slightly across the different conditions. Since this screening panel tests for specific genetic changes common to the Ashkenazi population, it is less accurate in people of non-Ashkenazi origin.
If only one partner is Ashkenazi, it is reasonable for that partner to be screened. If the Ashkenazi partner is found to be a carrier of a particular disorder, then it is advisable for the other partner to also be tested to see if they are a carrier specifically for that condition.
If you are not sure of the extent to which you have Ashkenazi ancestry, but suspect that you have at least one Ashkenazi grandparent, it is still sensible to be tested. This is because if you have some Ashkenazi ancestry, you will have an increased risk relative to the general population, though this will be lower than people of full Ashkenazi descent.
If both partners are of Sephardi origin this screening test is not directly relevant as the carrier rates for Jewish genetic disorders among Jews of non-Ashkenazi origin are no higher than in the general population.
However, if one or both partners are Sephardi with Moroccan ancestry, then testing for Tay-Sachs is still relevant as there is an increased risk (about 1 in 80 Moroccan Jews are Tay-Sachs carriers). In this case, an option to test specifically for Tay-Sachs will be available on the day in parallel to the Ashkenazi screening test.
Although it is possible for one partner to be tested, if that partner is a carrier of a particular disorder then the other one should also be tested for that disorder. Only in cases where both partners are carriers of the same disorder is there an increased risk of them having an affected child.
If you choose for only one partner to be tested, the person who has the strongest Ashkenazi origin should be the one that is screened.
It is not a problem if you have recently given birth or are currently breast feeding, you can still be screened.
Even if you already have healthy children, it is possible that future children could be affected by a Jewish genetic disorder if both partners are carriers for the same disorder. If you are considering expanding your family then testing is still relevant.
The Jnetics screen identifies carriers of all nine conditions in one go. However, if you do have a family history of a particular Jewish genetic disorder, your GP can refer you to a Regional Genetics Service for disorder-specific carrier testing where appropriate.
The test involves providing a small saliva sample. PLEASE DO NOT EAT, DRINK, CHEW GUM OR SMOKE FOR 30 MINUTES PRIOR TO YOUR APPOINTMENT.
You will receive your results from the Jnetics Genetic Counsellor in the post within 8-10 weeks of the screening event. You will receive these whether or not you are found to be a carrier.
The results of your carrier screening test will be delivered directly to the Jnetics genetic counsellor at Northwick Hospital who will only share the results with you. The results of your test are strictly confidential and will not be shared with any additional parties unless you request otherwise.
It will not affect your own health in any way. If you are found to be a carrier and are planning a family, it is sensible for your partner to be tested. If s/he is also a carrier there will be a 1 in 4 risk of having an affected child. If s/he is not a carrier there will not be a significant risk of having an affected child.
You will have the opportunity to discuss your results with a dedicated Jnetics genetic counsellor. The implications of being a carrier are only significant if your current or future partner is also a carrier of the same condition. In this situation it will be possible to make an appointment with a genetic counsellor to discuss the different options available to reduce the risk of having an affected child.
There should not be any ramifications of being a carrier of a recessive condition with regard to any kind of insurance.