Perhaps you’ve heard of Tay-Sachs disease (TSD). Babies born with TSD develop normally until around three to four months, then experience rapid and progressive deterioration of the brain and nervous system. Affected children become blind, deaf and unresponsive and rarely survive beyond the age of four. To avoid passing this devastating condition on to your children, you may have been tested to see if you are a carrier.
But TSD is far from the only genetic disorder that disproportionately affects our community. Many others have been identified. They vary in severity but include at least nine recessive conditions that are severely debilitating and often life shortening.
One in five Ashkenazi Jews is a healthy carrier of at least one severe recessive Jewish genetic disorder (JGD). When two carriers of the same recessive condition have children together, each child has a one-in-four chance of being affected.
Every year children are born into the UK community who require constant care and die young as a result of a severe Jewish genetic disorder. They are usually born into families with no known history of the condition.
There are also dominant JGDs. Whereas the carrier of a recessive JGD is unaffected — and cannot pass on the disease to a child unless the other parent is also a carrier of the same JGD — carriers of dominant JGDs often develop the condition themselves, and their children have a 50 per cent chance of inheriting the condition without the need for the partner to be a carrier.
The dominant JGD with perhaps the most impact in the UK Jewish community is associated with the BRCA 1 and BRCA 2 genes.
The reality is that we in the UK have not developed a culture where prospective parents would no more think of having children without being tested than drive them around without seatbelts.
One in 40 Ashkenazi Jews is at significantly increased risk of developing breast, ovarian, prostate and certain other hereditary cancers due to a genetic change in a BRCA gene that can be inherited from either parent. This compares to a risk of around one in 400 in the general population.
In other words, the risk is 10 times higher in the Jewish community.
The tendency to inherit certain genetic conditions is not specifically a Jewish phenomenon. All ethnic groups have a greater risk of inheriting certain genetic disorders relative to the general population — for example, thalassemia in the Cypriot community, and sickle cell anaemia among Afro-Caribbeans.
Fortunately, much can now be done to improve significantly how we manage and prevent these disorders.
Scientific and medical advances in recent years have hugely improved our understanding of JGDs and our ability to manage them. In particular, we are now able to screen for the otherwise healthy carriers of severe recessive JGDs.
If you are a healthy carrier of a recessive JGD, it is essential that when planning children, your partner is also tested.
If you are both carriers of the same JGD (referred to as a carrier couple), there is a one-in-four chance that any child you have will inherit the disorder. But information is power, and there are a variety of options now available to carrier couples to avoid passing on the condition — and genetic counselling to help in making the choice that is right for them.
Increasingly, an IVF-related process called pre-implantation genetic diagnosis (PGD) is being used. This halachically-approved option enables carrier couples to have their own healthy biological children.
So while the risk of having a child with a severe recessive JGD is of concern, what is astounding is that today it is totally avoidable. We have the ability to prevent births with these conditions; to save children’s lives; to eliminate the heavy costs of care and to avoid untold pain and heartache. Yet we do so little.
Elsewhere, action has been taken. Testing for carriers of JGDs in Israel is routine, as it is in the Charedi community throughout the world. In Australia and the US, education and carrier screening has been standard practice for the past 20 years. Alarmingly, the same level of awareness and services is all but absent in the UK. It is simply extraordinary that we in the mainstream UK Jewish community have no such programme.
One reason is an underlying expectation that, if something is important, it will be covered by the NHS. However, in relation to JGD screening, this is not the case. Despite a strong and cost-effective case for providing screening for a whole group of the most severe recessive JGDs, NHS cover is limited to TSD screening — and even then, guaranteed only if you live in London. Take-up is tiny, other JGDs are not covered (so TSD testing can lead to a false sense of security) and this already restricted provision is vulnerable, given changes in National Screening Committee policy in 2013.
The reality is that we in the UK have not developed a culture where prospective parents would no more think of having children without being tested than drive them around without seatbelts.
Established in 2010, Jnetics is the only charity dedicated to improving the prevention and management of Jewish genetic disorders in the UK. Initially focusing on awareness-raising and signposting, we soon recognised that screening options for severe recessive JGDs in the UK are too limited. So working in partnership with the NHS Great Ormond Street Hospital lab and Guy’s Hospital clinical genetics department, Jnetics introduced the first community screening service in the UK for nine of the most severe recessive JGDs.
There are also recessive JGDs more common within the Sephardi community — for example, beta-thalassemia. Genetically, the Sephardi community is more diverse and so more complex to deal with. But if you are Sephardi, medical advice is that you should be screened for the other JGDs if even one of your grandparents is Ashkenazi.
Since 2014, we have run 12 community screening events — 10 in London, one apiece in Manchester and Glasgow. More than 450 people have been screened. As predicted, one in five of these were found to be a carrier of at least one of the disorders screened for and three carrier couples were identified. For these couples, screening has been potentially life-changing.
They are able to manage their risk and avoid having children affected by a severe genetic disorder.
But only a tiny fraction of the UK community, and of our young people in particular, is being reached. This year, Jnetics screened 203 people across the community. This is a tiny proportion of the estimated 2,500 new young adults each year who would benefit from screening, let alone the many more who have not been screened in the past. We have concluded that a radically different approach is now needed.
With support from across UK Jewry, we plan, in co-operation with schools, university organisations and Jewish marriage authorities, to launch a comprehensive education and screening programme. Our GENEius initiative,
to be rolled out over the next three years, will focus on educating those most at risk — the parents of the future. And we will offer them screening for severe recessive disorders.
We will start by introducing the programme for sixth-form students in Jewish schools and for couples getting married through the various synagogue movements. We then plan to extend it to those universities with a high proportion of Jewish students so that within a few years, the majority of young Jewish adults will be well-informed about JGDs and will have had the opportunity to be screened prior to having children.
We already fund the BYB (Befriend Your Boobs) programme that raises awareness of breast and ovarian cancer among Year 12 Jewish girls in close to a dozen schools and promotes behaviours that can help to reduce risk. This programme will form part of an integrated educational approach, so young adults will have the information they need about both recessive conditions and dominant hereditary cancers.
The long-term aim of GENEius is to create a shift in mindset, so screening for recessive JGDs becomes as routine here as it is elsewhere in the Jewish world. Ideally, the NHS would provide free screening for JGDs, and Jnetics is collaborating with other organisations (JLC, the Board of Deputies and the Jewish Medical Association) to try to secure this. This may take years — indeed may never occur. In the meantime, lives are at risk every day.
Currently, NHS labs charge Jnetics £190 to test for the nine most common severe recessive JGDs. Unfortunately, we simply do not have the resources to meet this cost and participants in our screenings are asked to pay that amount. With support from an amazing group of qualified volunteers, we then cover all additional costs — pre-test information, screening equipment and event delivery, genetic counselling — and provide subsidies for those in need.
As screening uptake increases, it is likely the lab cost will be reduced a little. But the GENEius programme is on a totally different scale and it is our aim to raise the funds from donors, participants and their families to cover the costs of the programme (approximately £1.3 million over the first three years) so that screening can at least be offered free of charge to sixth-formers and students.
Even at £190, the cost of screening is often less than the cost of the birthday parties we throw for our children. It is insignificant relative to the utter devastation that can occur from having a child with a severe recessive JGD.
