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Which disorders do we focus on?

Which conditions do we focus on?

We are primarily interested in genetic conditions affecting people with Ashkenazi Jewish ancestry. We do focus on a few conditions affecting people with Sephardi ancestry too (from September 2020 the number of Sephardi conditions we focus on will increase).

(Please note: we do not offer carrier screening for all the disorders we focus on. For a full list of the disorders covered by our screening click ‘here’)

The conditions we are interested in fall in to 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 Jewish ancestry relative to the general population. These are as follows:

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)
Breast and Ovarian Cancer (BRCA 1 & 2)

Colour coding: Blue – higher prevalence in Asjkenazi population. Green – higher prevalence in Ashkenazi and Sephardi populations.   

b) Disorders with higher prevalence ‘Jewish’ mutations:

We also focus on a group of conditions that aren’t more common among people of Jewish ancestry, however a specific mutation or set of mutations associated with the disorders are.

Cystic Fibrosis

Cystic fibrosis may be slightly less frequent in the Jewish population, but the frequency of certain mutations is increased. This disorder is relevant for both Ashkenazi and Sephardi Jews.

Will the spectrum of disorders that Jnetics focuses on expand in the future?

Jnetics is hoping to increase the number of Ashkenazi and Sephardi disorders on their screening panel in the near future. A new expanded test should be in place by March 2021.  

Additionallyit 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.