My sister-in-law used the screening service Jnetics offer and recommended it to me. My brother hadn’t been tested because his wife’s tests were all clear, and she is not a carrier. I thought it was important to get tested before trying to start a family; though probably would have done so even if my brother had been tested, because siblings can inherit different genes. I had understood from my mum that there was no family history of carrying any Ashkenazi genetic conditions, so was not expecting to be a carrier. I signed up for the Jnetics test in January 2021 and Jnetics sent everything I needed to provide a saliva sample in the post, and I carried out the test during a virtual appoint with a Genetic Counsellor, who was helpful in answering my questions and guiding me through the process.
When I received my results 8 weeks later, I was very surprised to discover I am a carrier of Tay Sachs but have since found out that my dad’s family knew they are carriers of TSD so I think my mum must have forgotten when I asked her about it beforehand. I made sure to inform my siblings and paternal cousins in case they wanted to be tested as well.
As I knew I was a carrier, this meant my husband could be tested for Tay Sachs on the NHS, and in addition as he is of Mizrachi origin and suspected he has G6PD as his mum’s family are carriers, he could also have this confirmed on the NHS. The same Genetic Counsellor was able to review my husband’s results and talk to both of us about what our results meant. We were told that because only I was a carrier, there was 50% chance of our children being carriers of Tay Sachs, but they would not inherit the disorder. We also found out that because G6PD is an X-linked recessive condition it meant that if we have a son they would not inherit the condition at all and if we have a daughter, she would be a carrier of G6PD.
It was useful to find out this information for us, our families, and our future children. As genetic testing hasn’t been around for that long and Jnetics tests for so many conditions, it’s possible that a family could be a carrier for a Jewish genetic disorder and never have known about it. I am now nearly 12 weeks pregnant and feel reassured knowing that our baby won’t be affected by Tay Sachs or G6PD, and they in turn can test to see if they are a carrier of Tay Sachs in future as well.
Emma, 28.
