One in five Ashkenazi Jews is a healthy carrier of at least one severe recessive Jewish genetic disorder. When two carriers of the same recessive condition have children together, there is a one-in-four chance of those children being affected.
In a special issue about genetic illness last November, the JC reported on the efforts of Jnetics to increase the number of community members screened to see if they are carriers of debilitating and potentially life-shortening genetic disorders.
The charity has been successful in this regard, particularly through the establishment of an educational and screening programme for year-12 pupils at Jewish schools.
But Jnetics now warns that, without additional funding, it will not be able to progress its “life-saving programme”.
Jnetics provides subsidised testing for nine recessive conditions which disproportionately affect Ashkenazi Jews, among them Tay-Sachs, cystic fibrosis, familial dysautonomia and Canavan disease.
Founded in 2010, the charity has been offering screening sessions a few times a year since early 2014. This year it launched GENEius, the screening programme for Jewish schools, through which around 250 pupils have been tested to date.
It is also behind an imminent weekly clinic in Barnet Hospital, where community members will be able to go for a screening.
Katrina Sarig, the Jnetics executive director, said the launch of these services showed the charity was moving “from concept to reality.
“We’re confident that it has the real potential to eliminate these tragic and utterly preventable conditions in the community.”
When it comes to educating about and testing for genetic disorders, UK Jewry lags behind countries such as Israel, America and Australia.
“We’re trying to change the mind-set to make people realise that this is very much a community issue,” Mrs Sarig said.
“It’s not ‘certain families’. Anyone who has Jewish heritage has this risk for the severe disorders we test for.
“In line with NHS protocols, anyone who has a least one Ashkenazi grandparent is at sufficiently increased risk [for testing]. Even if they have three non-Ashkenazi grandparents, it’s still relevant for them to be screened”.
To encourage the maximum number to be screened, the services it offers are significantly subsidised. Pupils screened through the GENEius programme, for example, are not charged. Even the £190 paid by adults at community sessions is around £60 less than the true cost. “This is because we subsidise the genetic counselling costs. We feel it’s essential that people are supported and given good information prior to and post getting their results.
“We need to raise more funds in order to be able to be doing this [the free pupil screenings],” Mrs Sarig said.
“Our hope is that, over time, the community and parents — who see the value of this and may be identifying a manageable risk within their family they wouldn’t have otherwise known about — will also contribute to the cost for their own children, or possibly their children’s friends, or a class.”
She welcomed the new weekly clinic at Barnet Hospital as “a first dedicated clinic looking at genetic conditions in the Jewish community.
“It’s a real complement to what we’re doing at the moment with our community screening, because we only have the resources to run that periodically. If people want to get pregnant, this avoids the wait.”
By the end of this year, Jnetics hopes to have “been into another two or three schools… and to have educated 750 students”.
The schools’ programme has enabled Jnetics to increase screening numbers dramatically. Whereas just over 200 people were screened last year, the 2017 figure is set to be closer to 800, including around 550 pupils.
But the charity’s ambitions are far greater. In a few years, Jnetics wants to offer screening programmes for all UK Jewish young adults with Ashkenazi heritage.
As well as expanding its schools programme, it would like to launch further initiatives for university students and pre-marriage couples.
“We’re very much hoping to go to Manchester in future, certainly Manchester schools,” Mrs Sarig said.
“We have to consolidate the service first in London but we are very much hoping that we will be able to roll it out around the other large communities. It will be a national service rather than a London service.”
However, even the continuation of the current programme is in jeopardy because of funding issues.
The student programme will cost around £250,000 this year alone.
“We’ve had some fantastic support from the Wohl Foundation and a couple of other big trusts,” she said.
“But we still need to raise another £100,000 to deliver what we want to in this first year with the schools programme.
“And, going forward, expanding it to include the student and pre-marriage programme in full, we will need around £450,000 annually over the next two years.
“One could say it sounds like a large amount of money. But one could also say it’s impossible to put a price on saving a life, which is what this programme is doing.”
Results from the community screenings have reflected the one-in-five figure for carriers of genetic disorders.
“With the schools, we expect the results to be the same. We’re informing people to prevent them [potentially]having children who will, tragically, pass away.”
Investment in prevention would be a significant saving on the cost of respite and other resources required in cases of children born with genetic disorders. “And that’s not even mentioning the emotional cost to the family. So it’s a good investment for the community in order to avoid totally preventable tragedies.”
She noted a tendency for adults to think that the £190 for testing — the charity defrays the cost in cases of hardship — “seems like a lot of money. They don’t look at it in the context of the heartache, the emotional and financial cost of a scenario where a child would be born affected by one of these conditions.
“It’s about seeing the bigger picture and understanding that this is one of the best investments they will ever make.”
