Disorders Covered By Jnetics

What conditions does Jnetics focus on?

We focus primarily on genetic conditions affecting people with Ashkenazi Jewish ancestry. These conditions fall into two categories: a) ‘Higher prevalence ‘Jewish genetic disorders and b) Disorders with higher prevalence ‘Jewish’ mutations.

a) Higher prevalence ‘Jewish’ genetic disorders:

These are a very specific group of genetic conditions which are more common among people with Ashkenazi Jewish ancestry relative to the general population, and include:

Bloom Syndrome Gaucher Disease (type 1)
Canavan Disease Glycogen Storage Disorder (type 1a)
DYT1 Generalised Dystonia Mucolipidosis IV
Factor XI Deficiency Niemann-Pick Disease (type A)
Familial Dysautonomia Non-classical Congenital Adrenal Hyperplasia
Familial Mediterranean Fever Tay-Sachs Disease
Fanconi Anaemia (type C)

Please note: not all disorders listed here are covered by screening, a full list of the 9 disorders screened for go to the ‘Book a Screening’ page

b) Disorders with higher prevalence ‘Jewish’ mutations:

We also focus on a group of conditions in which lots of different mutations can be behind the same disorder. The disorder itself is not more common among people of Ashkenazi Jewish ancestry, but a specific mutation or set of mutations are.

Cystic Fibrosis Breast and Ovarian Cancer (BRCA 1 & 2)

Cystic fibrosis may be somewhat less frequent in the Jewish population, but the frequency of certain mutations is increased. Breast and ovarian cancer is thought to be somewhat more frequent in the Jewish population and the frequency of at least three mutations in the BRCA 1 and 2 genes is increased.

Does Jnetics cover disorders that affect the Sephardi community?

People of Sephardi Jewish ancestry are at risk from a different group of genetic disorders than those affecting Ashkenazi Jews. Most of the disorders are specific to community of birth and do not affect all Sephardi Jewish people to the same extent.

At the moment, Jnetics does not offer carrier screening for any Sephardi genetic disorders. However, we are currently working with the genetics laboratory at Liverpool Women’s Hospital, as well as the UK Sephardi community, to explore the option of expanding our panel to include Sephardi conditions too.

Will the spectrum of disorders covered expand in the future?

It is very likely that new research will identify additional disorders that are especially relevant to the Jewish community, both Ashkenazi and Sephardi.

Jnetics is monitoring research developments and, given the necessary resources, will include other genetic disorders over time that are of particular significance and of interest to the Jewish community.