Ever since high school, Jonathan Katz wanted to undergo genetic testing. Jonathan is of Eastern European Jewish descent and was aware of the increased frequency of certain genetic conditions in people of Jewish ancestry. Jonathan’s brother eventually introduced him to...
For most of us, there is no single day that defines the course of our lives. No obvious line in the sand delineating the “before” from the “after.” For Amanda Kalinsky, however, there is most assuredly a day – April 22nd, 2009. It was the day she found out she...
People that pursue preimplantation genetic testing for monogenic disorders (PGT-M) with in vitro fertilization (IVF) usually do so to avoid passing down a genetic risk to their biological children. They typically do this by choosing not to transfer embryos found to...
When a doctor or genetic counselor orders a genetic test, the intent is to determine if their patient has a change in a specific gene that could explain their symptoms or that has been passed down through their family. Changes in genes, or mutations, can alter the...
Rebecca Hughes was only 31 when she received devastating news. She had Stage 3 ovarian cancer. Due to the aggressive nature of ovarian cancer and the lack of effective screening for potential recurrences, the recommended treatment protocol is a complete hysterectomy...
Autosomal recessive is a pattern of inheritance. Genetic diseases are caused by changes, also called mutations or pathogenic variants in genes that cause the gene not to work properly. We inherit two copies of each gene from our parents; one from our mothers and the...
