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