Are breast and ovarian cancers Jewish genetic diseases?

Malka Ella

Roughly 1 in 40 Ashkenazi Jews are carriers of the BRCA genetic mutation, which increases the risk of breast and ovarian cancer. Though this increased risk is genetically transmitted, BRCA is not typically included among the disorders included in the standard testing panels for Jewish genetic diseases. Individuals with a family history of breast or ovarian cancer are encouraged to …

I am going through IVF and have been recommended PGS (preimplantation genetic screening), is it necessary?

Malka Ella

Preimplantation Genetic Screening (PGS) is commonly offered when a patient’s is undergoing in vitro fertilisation (IVF) treatment. The test identifies common chromosomal abnormalities in the embryos. Severe abnormalities will not be compatible with life and therefore this test improves pregnancy success rates and reduce miscarriages. It is important to consult with a genetic counsellor.

I have already had children who are healthy and we still plan to have more. Surely I don’t need to be tested?

Malka Ella

Unfortunately there is a misconception that because you have healthy children, neither parent is a carrier for the same condition. Ashkenazi conditions follow an autosomal recessive inheritance pattern. This means both mother and father need to be a carrier for the same condition. If they are, with EACH pregnancy- there is a 25% chance of having an affected child, 25% …

My one parent is Sephardic, do I still need Ashkenazi genetic testing?

Malka Ella

Yes, although the chance of being a carrier is slightly smaller. You still have one parent who is Ashkenazi Jewish. We know that 1 in 6 people is a carrier for one of the 9 common conditions. This means that there is a chance you are a carrier and that you can have an affected child. If both parents are …