Lori Heid was about to get the results of a genetic test that looked for mutations in 25 genes known to be linked to increased risk for cancer. Her mother was diagnosed with breast cancer when Heid was just 14 and she wanted to know her own cancer risk. If the test found a dangerous mutation, she said she would consider having a prophylactic mastectomy — a procedure actress Angelina Jolie also underwent.
Marcela Velez has a similar history. She too is a single mom with a mother who survived breast cancer only to find cancer in her colon and liver.
They are part of a growing number of women taking advantage of state-of-the-art genetic tests. Mary Freivogel, a genetic counselor at Invision Sally Jobe, says part of it is the “Angelina Effect” — women inspired to get tested after seeing Jolie’s story in the media.
We were in the room when Heid was told she does not carry any BRCA mutation, which are associated with higher risk for breast and ovarian cancer. She was visibly relieved.
But Velez’s results were more complicated. Like Heid, Velez does not have a BRCA mutation, but she does have a less well-known mutation in a gene called PMS2. Her genetic counselor explained that the mutation is linked to a higher risk for uterine and colon cancer. She was advised to have regular annual colonoscopies.
Both women said they were glad to be armed with knowledge. Both felt relieved that it wasn’t worse. And both were glad they had a genetic counselor to talk with about the results.
The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. Read full, original post: Two Women, Two Results: The Agonizing Wait for Cancer Gene Tests