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Jnetics, PO Box 65520, London N3 9BU

Email: .(JavaScript must be enabled to view this email address)

Tel: 020 8123 5022


Upcoming Screening Events


Date: Tuesday 12th September 2017 1900-2100
Venue: The Brentano Suite, Solar House, 915 High Road, London N12 8QJ

 

Community Screening for Jewish Genetic Disorders

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.


Liverpool Womens NHS

London North West Healthcare

What are 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.

What is 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.

Why have carrier screening for Jewish genetic disorders?

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.

What does the screening process involve?

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.

Who is eligible for community screening?

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.

It is also possible to get tested if you are already pregnant. However, if you will be over 16 weeks pregnant by the screening event date then please contact us at .(JavaScript must be enabled to view this email address) so that we can discuss with you the implications and options available for screening in later stage pregnancy.

Which disorders are covered?

The disorders covered in this community screening programme are listed below - for more information about each, click on the disorder names.

Disorder Carrier Frequency
(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

How much does the test cost and how can I pay?

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:

  • By cheque made payable to Jnetics and sent to Jnetics, The Brentano Suite, Solar House, 915 High Road, London N12 8QJ, OR
  • By bank transfer to Jnetics: sort code 08-92-99; account no. 65381447. Please put your name as the payment reference. Once received, Jnetics will write a cheque for the full transferred payment to Liverpool Women’s Hospital.

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.

If you are interested in screening but are unable to afford the subsidised amount of £190, please contact us at .(JavaScript must be enabled to view this email address) as there may be an option to offer some limited financial assistance.

How can I register?

As screening capacity is limited, we strongly recommend that you register in advance to guarantee a place.


Date: Tuesday 12th September 2017
Venue: Solar House, The Brentano Suite, 915 High Road, London N12 8QJ

 


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.

Frequently asked questions about the Jnetics community screening programme

Please click on the titles to open and close the following information sections.

If you have additional questions, please send them to .(JavaScript must be enabled to view this email address)



If you cannot attend the next screening event, contact .(JavaScript must be enabled to view this email address) to register your interest in a future Jnetics event and we will notify you when registration for future screenings becomes available. If timing is a concern eg. you are currently pregnant or planning to start or expand your family in the immediate future, please contact us.

If all spaces are full at the next Jnetics screening event, contact .(JavaScript must be enabled to view this email address) to be added to the reserve list. If no spaces become available, we will notify you when registration for future screenings opens. If timing is a concern eg. you are currently pregnant or planning to start or expand your family in the immediate future, an alternative screening options are available, please contact us.

The cost of testing for all 9 disorders is £190 per person. If you are interested in screening but are unable to afford the subsidised amount of £190, please contact us at .(JavaScript must be enabled to view this email address) as there may be an option to offer some limited financial assistance.

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.

If you have booked but are unable to attend, please email .(JavaScript must be enabled to view this email address) as soon as possible to enable your slot to be re-assigned. A full refund will be given up to 48 hours before the screening event – after this, the refund will have £25 taken off for late administration costs.

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.

Although it is advisable to have carrier screening prior to pregnancy, testing is possible if you are already pregnant. However, if you will be over 16 weeks pregnant by the screening event date then please contact us at .(JavaScript must be enabled to view this email address) to enable us to discuss with you the implications and options available for screening in later stage pregnancy.

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.

Jnetics community screening does NOT include screening for BRCA mutations. However, if you are concerned about cancer in your family and would like more information about how to access BRCA screening if appropriate, please contact .(JavaScript must be enabled to view this email address).

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.

Some insurance companies may cover the cost of the Jnetics carrier screening test, however you will need to check with your individual provider directly. If you would like a service receipt from Jnetics, please contact us at .(JavaScript must be enabled to view this email address) and we will be happy to provide you with one.