The most emotional and touching moment from 'Knowledge Is Power', the online seminar organised by the charities Chana and Jnetics, came courtesy of Tony Angel, Chairman and Founder of Jnetics. In introducing his charity, which aims to raise awareness and provides carrier screening of nine genetic disorders pervasive within the UK Jewish community, he discussed his eldest son, Benjamin, who was born with cystic fibrosis.
Cystic fibrosis is a genetic disorder caused by a mutation in the gene encoding for the CFTR membrane protein. It is also an autosomal recessive disorder, which means that it appears only when someone carries two copies of the mutated gene. Whilst carriers – who only carry one mutated gene copy – are healthy, if two carriers have a child, the probability that they are a carrier is one in two, and they have a one in four chance of suffering from cystic fibrosis. Unfortunately, one might not know themselves to be a carrier of a genetic disorder until it is too late.
Distressingly, Benjamin's story is commonplace, particularly within the Jewish community. An Ashkenazi Jew, like me, has a one in five chance of carrying one of the disorders screened for by Jnetics. Along with cystic fibrosis, two further disorders screened for are: Tay-Sachs disease, which destructs the nervous system and commonly causes death by the age of four, and familial dysautonomia, which alters nerve cell development. The aim of Jnetics is to raise awareness of genetic disorders in the Jewish community, and provide aid to those affected, in order to, as their website states, 'make a real difference to the prevention, diagnosis and management of Jewish genetic disorders'. As Angel said, 'The life you may be saving is the life of your own child'.
'Knowledge Is Power', the webinar organised as part of Jnetics' Jewish Genetics Awareness Month, was about presenting two primary approaches being undertaken within the Jewish community to decrease the prevalence of genetic disorders: screening services, as provided by Jnetics, and fertility guidance and treatment, as provided by the charity Chana, the leading UK fertility support organisation dedicated to the Jewish community, introduced in the webinar by Dr Veronique Berman.
I have mentioned previously the value and meaning of fertility within the Jewish community. However, whilst I attributed this primarily to combatting the after-effects of genocide, the event's host, the ever-enthusiastic and engaging Rabbi Yoni Golker, pointed out that fertility is at the centre of the first mitzvah mentioned in the Torah – 'p'ru ur'vu', be fruitful and multiply. The key question is: how do you consolidate fertility with the threat of genetic disorders?
The discussion surrounding this was provided by Dr Sara Levene, a consultant genetic counsellor as part of the centre for reproductive and genetic health. In her highly informative segment, she clarified that, for those at risk of having a child with a genetic condition, the process is about choice: do we pursue egg or sperm donation? Do we adopt? Do we simply take the 75 percent chance? And when the process is about choice, it must also be about knowledge, as provided via genetic screening.
However, Dr Levene also stressed that there is another option: to play it by ear and, if anything nefarious arises, to cross that bridge once it appears. Firstly, this is enabled by prenatal diagnosis techniques such as amniocentesis, when genetic testing is conducted on cells obtained from the amniotic fluid surrounding the fetus, or chorionic villus sampling, where cells are obtained from the developing placenta. Alternatively, one could pursue pre-implantation genetic diagnosis, a procedure similar to IVF, though including genetic testing of the fertilised embryos.
In this way, Dr Levene's segment facilitated as both raising awareness of ways for Jewish couples to raise children even when there is a risk of a genetic disorder, and also a means of myth-busting, which extended into the final Q&A: Is it dangerous if one parent is a carrier for one disorder, but the other is a carrier for a different one? (No.) Is abortion a possibility? (In Judaism, it is permitted if there is serious risk to the mother's life). Will the prevalence of carriers' decrease? (Unfortunately, no.) Indeed, the term 'knowledge is power' can be taken in two ways – firstly as an awareness of the problem at hand and the steps being taken to solve it, but more importantly as a means for making more informed decisions regarding both starting and raising a family.
I will admit that I may have, irrationally, misread the initial aims of the seminar as science communication, choosing to ask questions about Jnetics testing costs and the origins of high disorder prevalence within the community. However, whilst I was fairly familiar with the underlying biology of what was being discussed, I was in no less need of awareness. After all, despite being both Jewish and at university for more than five years, meaning that I can be screened for free through Jnetics, I am yet to do so.
Especially at this moment in time, the importance of simple awareness has never been more apparent. Interestingly, as pointed out by Rabbi Golker during his introduction, whilst the quote 'knowledge is power' is most widely attributed to Thomas Jefferson, an early version appears in the Jewish Mishna, where Rabbi Eleazar Ben Azarye says 'Im ein da'at ein bin'a, im ein bin'a ein da'at' – If there is no knowledge there is no understanding, if there is no understanding there is no knowledge.
Now more than ever, with COVID-19 denial and vaccine reluctance rampant, we are experiencing the disarming effects of pervasive mistrust and ignorance. Consequently, I am profoundly relieved and grateful that, within my community, events like this occur, and organisations like this are dedicated to providing this knowledge.