Having a child with a severe Jewish genetic disorder (JGD) is utterly devastating – not just for the child but for the whole family.
So many things in life are out of control but reducing your risk of having a child affected by a JGD is not.
Carrier screening is the first crucial step in ensuring your children do not suffer from any of the severe recessive JGDs we test for.
What is carrier screening?
Carrier screening (or carrier testing) involves taking a simple cheek swab, which is then tested to identify any changes (often called mutations or gene faults) in a gene associated with a genetic disorder. If one or more changes are found, then the individual is considered a ‘carrier’ for that condition.
Jnetics’ screening uses a simple cheek swab and looks for mutations in genes associated with 47 severe and recessive Jewish genetic disorders. A full list can be found here.
What is a ‘carrier’?
Being a carrier for a recessive disorder means that you have one mutated copy and one healthy copy of the disorder-related gene. Since there is a healthy gene copy, carriers of recessive disorders are not typically affected themselves.
However, carriers are at increased risk of having a child affected by the disorder if their partner is also a carrier of the same condition.
A couple in which both partners are carriers for the same disorder is often known as a ‘carrier couple’ and they have a 1 in 4 chance with every pregnancy of having an affected child.
Why is screening so important?
Fortunately, there are several options for carrier couples to manage their risk of having an affected child. However, these are only accessible if the couple is aware of their status, as achieved by testing.
This is exactly why screening is so important.
How likely am I to be a carrier?
At least 1 in 5 people with Jewish ancestry is carrier for a severe recessive Jewish genetic disorder.
Who should consider screening?
Screening for Jewish genetic disorders is relevant for anyone aged over 16 who has at least one Jewish grandparent, whether they are Ashkenazi, Sephardi or Mizrahi.
It is particularly recommended for people who are planning to start or expand their existing family.
Typically, babies with recessive genetic disorders are born to parents with no known family history of that condition. This means screening is just as important for those who do not have history of these disorders in their family.
Couples who have already completed their family can also be tested to enable them to inform their own children if there is any increased genetic risk.
What are the options for ‘carrier couples’?
There are several options for carrier couples to manage their risk of having an affected child. Some of these are listed below:
- Prenatal Diagnosis (PND)
- Pre-implantation Genetic Testing
- Donor Gametes
Genetic counsellors are healthcare professionals who are trained to support carrier couples in exploring these options and deciding which is best for them. Any carrier couples identified through our testing are provided with all the onward support and advice necessary from our dedicated genetic counsellor.
If you have any concerns about the halachic aspects of carrier screening and reproductive options for carrier couples, please refer to your local rabbinical authority and our partner charity Chana. Jnetics is endorsed by all the UK rabbinical and synagogue movements.