Jnetics expands genetic screening to cover 50th condition
Announcement comes as the charity launches major fundraising drive on Sunday to help more people to learn their carrier status
Jnetics has expanded its screening programme to cover 50 conditions, adding a rare inherited disorder that can affect development, movement and breathing.
The charity, which is dedicated to improving the prevention and diagnosis of Jewish genetic disorders in the UK, has introduced testing for variants in the TECPR2 gene associated with Hereditary Spastic Paraplegia type 49 (HSP49). Disease-causing variants have been identified in both Ashkenazi and Bukharian Jewish populations.
Jnetics is encouraging people to find out their carrier status before planning a family.
The announcement comes as the charity launches its “Say Yes to Know” two-day match-funding campaign, which starts on Sunday 1 November. The appeal will support its work to improve he prevention and diagnosis of Jewish genetic disorders in the UK.
According to the charity, one in three people of Jewish ancestry carries at least one of the severe recessive genetic conditions included in its screening programme.
Carriers are typically unaffected themselves and may have no known family history of the condition. However, when both partners carry variants associated with the same recessive disorder, there is a one-in-four chance in each pregnancy that their child will be affected.
Screening involves a simple cheek swab. Knowing their carrier status gives prospective parents time to understand any shared risks and explore their reproductive options, with genetic counselling and support available through Jnetics.
Jnetics has been providing community carrier screening since 2014, initially covering nine severe recessive conditions, including Tay-Sachs disease. Its programme has since expanded to include a wider range of conditions affecting people of Ashkenazi, Sephardi and Mizrahi Jewish ancestry.
The latest addition, HSP49, was introduced over the summer, bringing the number of conditions covered to 50. Its genetic link was first identified in 2012.
“Never having heard of it doesn’t mean that it can’t affect your family,” the charity said.
Jnetics works with medical and scientific advisers, hospitals and clinicians to ensure its screening reflects advances in research and understanding of inherited conditions.
“These relationships help us put advances in genomic medicine into practice, giving our community access to screening that reflects our growing knowledge,” it said.
The screening expansion comes ahead of University Screening Week, running from 23 to 29 November 2026, when eligible students across the UK can access testing free of charge.
Open to UK-based students with at least one Jewish biological grandparent, the programme enables participants to test wherever they study.
Students pre-book an online appointment and receive a screening kit in the post. A trained adviser guides them through collecting their cheek-swab sample during a Zoom appointment, before they return it for laboratory testing.
Jnetics is encouraging students to take up the opportunity long before having children becomes an immediate consideration.
“When you do start thinking about having children, knowing your carrier status means you and your partner can find out about any shared risks and explore your options in advance,” the charity said.
It is also asking parents, friends and relatives to share details with students who could benefit.
“A conversation now could make an enormous difference to their future,” it added.
The student screening programme is fully subsidised through donations.
Students can find out more at: jnetics.org/oncampus
Donations can be made at charityextra.com/jnetics