3 min read
We live in a world of uncertainty. So much is currently out of our control. But screening for genetic disorders is not. The risk posed by not screening and the often tragic outcomes are both manageable and avoidable.
Jnetics is the only cross-communal charity in the UK devoted to the prevention of Jewish genetic disorders. Jnetics has an ambitious yet entirely achievable mission; to eradicate new cases of severe recessive Jewish genetic disorders (JGDs) from our community. It does this by providing subsidised carrier screening for nine devastating and incurable disorders, in partnership with the NHS.
Carrier screening is a genetic test, performed using a saliva sample, which is then used to identify if someone is a healthy carrier for a recessive Jewish genetic disorder. Being a carrier does not typically affect your own health but does mean that you are at increased risk of passing on the disorder to your future children. Quite simply, if two people who are carriers of the same recessive genetic disorder have children, there is a one in four chance with every pregnancy that the newborn child will suffer from the disorder that they both carry.
One in five people of Ashkenazi Jewish origin is a carrier for a severe recessive Jewish genetic disorder.
Fortunately, there are several options available for so-called carrier couples to avoid passing on the disorder they carry. These include advanced assisted reproductive techniques, such as preimplantation genetic diagnosis. However, to access these, the couple must be aware of their carrier status first. “When it comes to family planning, we now have the gift of knowledge,” say Lauren and Richard, a Tay-Sachs disease carrier couple identified by Jnetics .
Screening is important for anyone who now, or in the near future, is planning to conceive a child, even if they have never had a case of a JGD in their family before. Pre-conception screening gives carrier couples the greatest number of options to manage their risk of having an affected child. Screening is equally important for couples who are about to expand their family and who have not been previously screened. Often, children affected by Jewish genetic disorders are born to couples who already have healthy children. Eighty per cent of babies with a severe Jewish genetic disorder are born to couples who have no family history of the condition.
“Our son was diagnosed with a severe Jewish genetic disorder that we’d never heard of, at five months of age,” say Ian and Jane Pearl, parents of a child with familial dysautonomia. “We watch him struggle every day, which is unnecessary now that genetic testing is available. A simple test enables a family to make an informed choice and could save a lot of heartache in the future.”
Jnetics provides carrier screening for nine Jewish genetic disorders, via the Jnetics clinic. Since the onset of Covid, it has successfully transformed its screening process into an entirely virtual service, meaning participants can take part from the comfort of their own home, save for a quick trip to their closest post box.
Taking part in the Jnetics clinic is extremely easy. First, participants must sign up online, which involves choosing an appointment and paying the subsidised screening fee. They then receive a pack in the post with everything needed for the screening, including a saliva kit.
The virtual appointment takes place via a video call with our dedicated NHS genetic counsellor, who runs through all the key screening information and allows participants to provide their sample. After the call, participants simply return the completed saliva kit via post to Jnetics, and results are returned up to eight weeks later via email. The counsellor also provides any onward advice, support or referrals for individuals or couples who need this.
Jnetics also educates and screens young Jewish adults through the GENEius programme, which this year will be delivering its first virtual university screening week from November 23 to 29. Jewish students around the country will be able to take part in carrier screening, at no charge and from home. Also via GENEius, year 12 students at a several Jewish secondary schools in London and Manchester receive education about and free carrier screening for JGDs.
Aviva Lewis is northern outreach and development manager at Jnetics, jnetics.org. You can book a virtual appointment at the clinic directly at www.Jnetics.org/screening. More information about GENEius can be found at geneius.org