Taking the first test for new genetic disorder screening
JNETICS, THE charity working to prevent genetic disorders more prevalent among Jews, is expanding the number of conditions it tests for from nine to 47.
And this week, my partner and I were the first couple tested under the enhanced screening programme.
The testing kits arrived by post and the process involved completing an online form asking about Ashkenazi, Mizrahi and Sephardi grandparents —and whether any of our relatives were “healthy carriers” of recessive genes.
We were told not to eat or drink for half an hour beforehand.
The test itself requires spitting repeatedly into a test tube for about five minutes, then mixing the results with another liquid.
It was not the most glamorous way to spend a lunch hour but an NHS counsellor was on the other end of a video call to talk us through the essentials.
All that remained was a walk to my local post office to mail our samples back for testing, with the results expected in eight to ten weeks.
My partner and I are both 28. I have a Sephardi grandmother; my partner’s background is Ashkenazi.
Tay-Sachs and cystic fibrosis were among the original nine disorders the screening covered.
The expanded list includes conditions relevant to us both, including
Pompe disease, a rare disorder that affects the heart and skeletal muscles and has a carrier rate of onein-76 among Ashkenazim and also affects Sephardi Jews. For a recessive disorder to potentially be passed on to a child, both parents must be carriers of the mutated gene.
The increased screening ability follows Jnetics’ move from a UK-based laboratory to facilities in California which can screen for additional disorders at no extra cost. Some are more common among Sephardim and Mizrahim.
It was important that the service was cross-communal, said the charity’s research, development and outreach manager Aviva Lewis.
“There are so many people with mixed backgrounds. So if someone has one Ashkenazi parent and one Sephardi parent, our test in the past really addressed only half of their ethnicity,” she said.
With the expectation that the new test will identify a larger number of carriers, there will be growing demand for the genetic counselling it provides in partnership with the NHS.
Ms Lewis added that it was “standard practice” to update genetic tests as knowledge and technology evolved.
“We don’t have a blanket policy for what we are recommending people do if they’ve been tested for the nine
In the past, we really addressed only half their ethnicity
before,” she said.
It was up to individuals to decide on a further test based on their circumstances.
This year, the charity hopes to test at least 1,000 school and university students and young adults.
It expects to screen more than 300 students at a virtual campus event in November.
The test costs £250 per person or £350 a couple. There is no charge for students and a 75 per cent discount for school pupils making fundraising a crucial element of Jnetics’ work.
There are also subsidies available from the charity in cases of financial hardship.