Ashkenazi Jewish genetic counselling

There are certain hereditary conditions, which are more common in particular ethnicities or racial groups. For example cystic fibrosis is more common in people with British ancestry and certain blood conditions such as sickle cell anemia and thalassemia occur more frequently in people with African and Mediterranean backgrounds. People with Ashkenazi Jewish ancestry are at an increased risk of being a carrier of certain genetic conditions, which all follow what is known as autosomal recessive inheritance. Being a carrier of a recessive condition usually has no impact on your health or wellbeing, however if both you and your partner are a carrier of the same condition, you are at an increased risk of having a child affected with that condition.

At Insight Genomica we offer carrier testing for conditions that are more common in the Ashkenazi population and this called Ashkenazi Jewish Carrier Screening.

The conditions on this test are:

  • Tay Sachs disease
  • Bloom syndrome:
  • Canavan disease:
  • Cystic fibrosis:
  • Familial dysautonomia:
  • Fanconi anaemia:
  • Mucolipidosis IV:
  • Niemann – Pick disease:

Cancer & The Ashkenazi Jewish population

The conditions included on the Ashkenazi Jewish carrier screen follow a pattern of inheritance known as recessive inheritance. Nearly all of our genes come in pairs. We inherit one copy from our mother and the other copy from our father. For a person to be affected with a recessive condition, they need to have inherited two faulty copies of a gene for a particular condition from each parent. When a person has one faulty copy and one working copy of a gene for a recessive condition, they are referred to as a carrier. Carriers usually show no signs or symptoms of the condition. When two carriers of the same condition have children, with each pregnancy there is a 25% chance (or a 1 in 4 chance) of having a child affected with the condition.

Women from the Ashkenazim are also at an increased risk of inherited breast and ovarian cancer. Two genes are known to be associated with breast and ovarian cancer in the Ashkenazi population. They are known as BRCA1 and BRCA2. All men and women can have BRCA mutations, however if someone has Ashkenazi Jewish ancestry, they are more likely to have one of three mutations in one of these genes.

At Insight Genomica, during an appointment, we can discuss testing recommended for the Ashkenazim in more details.