Charity increases number of Jewish genetic disorders it screens from nine to 47

A leading charity researching Jewish genetic disorders (JDGs) has expanded the number of conditions it tests from nine to 47.

Jnetics’ will for the first time offer testing for 15 disorders prevalent in Sephardi and Mizrahi communities, and 28 among Ashkenazim. Four conditions are common among people from both communities or who have mixed heritage.

It is thought up to one-in-five Jews of Ashkenazi origin are healthy carriers of a severe recessive Jewish genetic disorder, the charity says. Carriers are usually unaffected by JDGs, but if they have a child with another carrier, there is a one in four chance the child will inherit it. Screening identifies those at risk of passing on one or more disorders.

Jnetics CEO Nicole Gordon said: “The grouping has been increased to include further conditions prevalent in the Ashkenazi community, and for the first time we will include conditions prevalent in the Sephardi and Mizrahi communities. We are encouraging any young Jewish adults with at least one Jewish grandparent to come forward and be tested.

“Currently, so many health issues are beyond our control. Screening for Jewish genetic disorders and managing the risk of having a child with one of the severe life-threatening and or life-shortening disorders we screen for is not.”

Among the most prevalent disorders for Ashkenazi Jews are Canavan disease and familial dysautonomia, which affect the nervous system, and cystic fibrosis.

Conditions impacting Sephardim more actually include acute infantile liver failure, Costeff optic atrophy syndrome, which is a neurological disorder, and Glycogen storage disease type III, which harms the liver, muscles and tissues.

Lauren and Richard Kayser, who are both Tay-Sachs carriers, underwent Jnetics screening before their first daughter was born – she was unaffected by the condition. They had a type of IVF treatment for their subsequent two girls and are encouraging others to be screened, to “avoid finding yourselves in the traumatic situation we had to experience”.