Jnetics Screening Services For Jewish Genetic Disorders
Jnetics 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 Park Hospital, Jnetics offers responsibly delivered private screening for 9 of the most severe Jewish genetic disorders.
There are two Jnetics screening services:
The Barnet Clinic – for those based in London.
The Virtual Clinic – for those based outside of London. Those living in London are not eligible for this service.
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 services 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?
The screening process differs slightly depending on whether you are attending the Barnet Clinic or the Virtual Clinic. Remember, only those living outside of London are eligible to take part in the Virtual Clinic.
The Barnet Clinic
1) Online Registration – this includes picking an appointment time and paying the screening fee. Participants must register no later than 3pm on the day prior to the selected appointment.
2) Screening Appointment – participants meet with a Jnetics-dedicated NHS genetic counsellor (GC). The GC answers any outstanding questions and guides the participant through the consent process. The participant then provides a saliva sample.
3) Receiving Results – results are received by email from the GC 8-10 weeks after the appointment, or 2-3 weeks if the participant (or their partner) is pregnant. If found to be a carrier of one of the conditions, it is possible for the participant to contact the GC for further information, advice and referrals, if relevant
The Virtual Clinic
1) Online Registration – this includes picking an appointment time and paying the screening fee. Participants must register no later than one week prior to the selected appointment date.
2) Receiving the Screening Pack – participants receive a screening pack in the post with everything they need for the appointment. This includes forms and a saliva collection kit.
3) Phone call Appointment – the genetic counsellor (GC) phones the participant at the chosen time. The GC answers any outstanding questions and guides the participant through the consent process. The participant then provides a saliva sample.
4) Posting the Completed Saliva Kit – the participant posts the completed saliva kit to the NHS genetics lab at Liverpool Women’s Hospital.
5) Receiving Results – results are received by email from the GC 8-10 weeks after the appointment, or 2-3 weeks if the participant (or their partner) is pregnant. If found to be a carrier of one of the conditions, it is possible for the participant to contact the GC 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.
Which disorders are covered?
The disorders covered in the Jnetics screening services 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|
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 online when completing the online registration form.
How can I register?
1st Thursday of the month: 0830-1130
2nd Wednesday of the month:1530-1830
3rd Thursday of the month: 0830-1130
4th Thursday of the month: 1530-1830
Click below to register for the Barnet Clinic or the Virtual Clinic
Venue for Barnet Clinic: Barnet Hospital, Level 2, Breast Clinic, Wellhouse Lane, Barnet, EN5 3DJ
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 Screening Services
Please click on the titles to open and close the following information sections.
No, this is not possible. In order to be seen by our genetic counselor and be tested you need to have a pre-booked appointment. You can book an appointment by following this link.
In order to successfully book your appointment you must complete the online registration form and pay online prior to attending the clinic. It is therefore not possible to pay on the day.
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.