Should I be considering genetic screening?
MY FRIENDS and family are aware that Jnetics exists but often don’t know that it is relevant to them,” says Dr Monica Ziff. A longstanding volunteer for Jnetics, a charity devoted to the prevention of Jewish genetic disorders, Dr Ziff is mother to two girls, aged three and one, and a junior doctor in a busy hospital. She has been fascinated by genetics ever since her science lessons at school and has recently been awarded a role specialising in clinical genetics in London. Here, she talks about her work — with an important message for us all.
WHAT’S YOUR ROLE?
I came across Jnetics while attending a community screening event with my husband. We were so impressed with the important service Jnetics provided to the entire community — one which is not offered on the NHS.
I immediately signed up as a screening advisor, a volunteer for Jnetics’s screening events who guides participants through a screening consultation prior to their genetic test.
I now also evaluate their data, particularly looking at “carrier” rates of genetic disorders more common in people with
Jewish ancestry and present these findings to the scientific community.
WHEN SHOULD I GET TESTED?
A common misconception is that one needs to be in a serious relationship or married to get screened. With screening now offered at sixth form and university, through Jnetics’s GENEius programme, this is improving. However there remains a large cohort after university who have not had that opportunity and remain unaware of their genetic risk. Jnetics has done extremely well to target this group through social media campaigns, events and community partnerships, but still more needs to be done by the Jewish community itself, including raising awareness through synagogues, social organisations and word of mouth.
WHAT IS CARRIER SCREENING?
Carrier screening is a genetic test to identify people who have no symptoms of a genetic disorder but may be at risk of passing it on to their children. These individuals are known as ‘carriers’. Because we inherit one copy of a gene from each parent, the issues around being a carrier arise if your partner is also a carrier of the same condition — then there would be a one in four chance of your child being born with this genetic disorder.
Jnetics screens for nine fatal and/or severely debilitating autosomal recessive conditions, selected because of their higher frequency in the Ashkenazi Jewish population — with one in five Ashkenazi Jews estimated to be a carrier of at least one of these conditions.
Genetic screening gives people options to avoid passing on the disorder to future children. If both individuals in a couple are known to be carriers of the same condition, they are able to make their own informed choice regarding reproductive options. Screening prior to pregnancy gives the greatest number of choices. However, individuals can still be screened during or after pregnancy.
Jnetics runs a bi-monthly virtual screening clinic, “The Jnetics Clinic”. Anyone with at least one Ashkenazi Jewish grandparent can go online and book an appointment. (There is also the separate GENEius programme, for students.)
The clinic is targeted at 21-to-39-yearolds in the community who may be about to embark on parenthood. The process is straightforward. With screening consultations now done virtually, you don’t even need to leave the house to get tested (apart from posting your kit).
Once an appointment is made online, you will receive a saliva test kit in the post. During the consultation, an NHS genetic counsellor will guide you through the screening process, explaining genetic risk and the conditions tested for. You then spit into a tube (no blood test!) and post your sample.
Results take around eight weeks and are emailed to you. If you are found to be a carrier you are offered a consultation with a genetic counsellor who will provide further support.
AND REMEMBER...
Whether or not you are in a relationship, if you are thinking of having children at some point or have children already and plan for more, consider genetic carrier screening with Jnetics. Anyone is at risk of being a carrier for one of the conditions tested — there often isn’t an affected family member. You also don’t need to have full Ashkenazi heritage to be eligible — just having one Ashkenazi Jewish grandparent increases your chance of being a carrier. Jnetics is adding screening for disorders relevant to Sephardi and Mizrahi Jews to its test very soon, so keep an eye out at jnetics.org or @