Yesterday I was thrilled to go to a screening of In the Family, a documentary about being positive for the genetic mutation linked to breast and ovarian cancer (BRCA). The movie was a compelling story about a young woman who found at age 27 that she had a deleterious mutation, meaning she was at increased risk for these cancers . Joanna has a more than 90% lifetime risk of getting breast cancer, and around a 50% risk of getting ovarian cancer. Unfortunately, there's just no way to know when the shoe will drop.
Joanna spends the film dealing with her issues of being young and single, but also explores other people who may be genetically predisposed to breast and ovarian cancer. So, for example, an unmarried young woman who wants to have children may wait to have an oophorectomy, but that doesn't necessarily mean that a woman who's had children wants to have the surgery. It's intense, and there are horrible side effects. But, as a woman whose breast cancer has metastasized to her brain says, at least it's life.
One of the things that was interesting was the discussion about choices - what to do, when, and when to disclose this information. Should a teenager be tested? What if you don't want to know? What should you do? Are you to blame if you don't take preventive measures? Sharon Terry, from the Genetic Alliance, spoke about this issue as it relates to many other genetic issues, especially in terms of screening of embryos. Why bother screening for Down's Syndrome if folks are going to continue the pregnancy (although I'm sure some preparation could be helpful). Is it useful to know information, like genetic information, on which you cannot act?
With respect to the BRCA mutations, some people do act. In the UK, it's been approved that people can screen embryos with pre-implantation genetic diagnosis for the BRCA mutations that cause breast and ovarian cancer, or the onces that cause colon and other cancers. Other people may screen embryos for other mutations or conditions, including deafness and sex.