About The Jnetics Clinic

*Coronavirus Update* In light of recent events surrounding COVID-19, with advice from our NHS partners, all clinic appointments will now take place via our ‘virtual service’. Please book your appointment in the regular way and we will post a virtual screening pack (including sample kit) to you in advance of your appointment. The appointment will take place via zoom and you will receive the link via email in advance too.  During the appointment our genetic counsellor will, amongst other things, give you instructions about providing your sample and and posting it back to us.

About The Jnetics Clinic

Jnetics offers carrier screening for a group of 9 severe genetic disorders that are of particular relevance to people of Jewish ancestry via The Jnetics Clinic. The test offered at the clinic is recommended for those with at least one Ashkenazi Jewish grandparent (see below for more details).

The service offered via the clinic is entirely virtual. See below for what participation involves.

The clinic runs twice a month:

  • 1st Thursday Of The Month: 0830-0930 | 1030-1230 | 1310-1630
  • 3rd Thursday Of The Month: 1130-1330 | 1410-1830

 

TO BOOK FOR THE CLINIC CLICK HERE 

 

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 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 by Jnetics’ screening 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.

Which disorders are covered?

The disorders covered in Jnetics’ screening are listed below – for more information about each, click on the disorder names.

Disorder Population at risk and Carrier Frequency
Tay Sachs Disease Ashkenazi Jewish: 1 in 25, Moroccan Jewish: 1 in 110, Iraqi Jewish: 1 in 140
Cystic Fibrosis Ashkenazi Jewish: 1 in 25-29, Sephardi Jewish: approx 1 in 30
Familial Dysautonomia Ashkenazi Jewish: 1 in 30
Canavan Disease Ashkenazi Jewish:1 in 40-57
Glycogen Storage Disorder (type 1a) Ashkenazi Jewish:1 in 71
Fanconi Anaemia (type C) Ashkenazi Jewish:1 in 89
Niemann-Pick Disease (type A) Ashkenazi Jewish:1 in 90
Bloom Syndrome Ashkenazi Jewish:1 in 100
Mucolipidosis IV Ashkenazi Jewish:1 in 100-125

Who is eligible for screening at the Jnetics Clinic?

Screening is available for anyone aged 16 and over and who is of Jewish descent; having at least one Ashkenazi Jewish grandparent. 

The test covers 9 recessively inherited disorders, all of which have increased prevalence in the Ashkenazi Jewish population, and 2 of which have increased prevalence in the Sephardi Jewish population. Therefore:

  • The test is more clinically useful for individuals of Ashkenazi origin (1 or more Ashkenazi grandparent) than those with Sephardi-only ancestry.
  • The test is relevant, but to a limited degree, to those of Sephardi-only origin.
  • If you and your partner have only Sephardi ancestry, please email screening@jnetics.org for advise about participation in our screening. (Please note: we hope to alter our test by August 2021 to include an increased number of Sephardi disorders).
  • For couples who are not pregnant, the partner who has full Ashkenazi ancestry may register for screening first.

The test is particularly important for people who are planning to start or expand their existing family, either now or in the future.

Any individual of Jewish ancestry with a known mutation or family history involving one of these 9 genes is welcome to register, providing details of the family history and/or test report.

It is also possible to get tested if you are already pregnant. However, if you will be over 11 weeks pregnant by time of your appointment, please contact us at screening@jnetics.org so that we can discuss with you the implications and options available for screening in later stage pregnancy.

What does the screening process involve?

1) Online Registration- this includes picking an appointment time and paying the screening fee. Participant must register no later than one week prior to the selected appointment date.

2) Receiving the Screening Pack – participant receives a screening pack in the post with everything they need for the appointment. This includes forms and a saliva collection kit.

3) Video Appointment via Zoom with Genetic Counsellor– participant receives a zoom link ahead of the appointment. During the zoom appointment, the genetic counsellor (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 Jnetics and Jnetics sends it on to the lab.

5) Receiving Results – results are received by email from the GC 8-10 weeks after the appointment, or 4-5 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.

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

The subsidised cost of testing for all 9 disorders is £250 per person**

This directly covers the lab testing costs and clinical admin. Additional costs involved in delivering the service and providing counselling support are being subsidised by Jnetics in order to keep the real £300 price of the screening as low as possible.

Payment needs to be made online when completing the online registration form.

If you are interested in screening but are unable to afford the subsidised amount of £250, please contact us at screening@jnetics.org as there may be an option to offer some limited financial assistance.

** Please note that the screening price increased in April 2020 due to an increase in service partner charges. Jnetics have nonetheless continued to offer a subsidy to all participants to ensure that the service is as affordable as possible.

How can I register?

 

1st Thursday of the month:
0830-0930 | 1030-1230 | 1310-1630
3rd Thursday of the month:
1130-1330 | 1410-1830

Click here to book an appointment

 

Jnetics would like to thank the siblings of Alan Naftalin who kindly donated funds in his memory and to donors from the Jnetics November 2013 dinner for their support with the set-up of this service.