Will cancer genome testing give accurate results?

Question

Hello doctor,

I am considering cancer genome testing because of my strong family history, and I want to understand my risks before making decisions about childbearing. I am 28, and my mother died of ovarian cancer at 52. My maternal grandmother had breast cancer at 45, and my aunt had both breast and ovarian cancers. A genetic counselor recommended testing for BRCA1 and BRCA2 mutations, along with other hereditary cancer genes.

If I test positive for high-risk mutations, I am considering prophylactic mastectomy and oophorectomy, but this would affect my fertility plans. My husband and I want two to three children, but we are worried about passing cancer genes to our kids. The emotional burden of potentially carrying deadly mutations is causing anxiety and depression.

Insurance coverage for cancer genome testing is confusing and may not cover all the genes I want tested. I am also considering egg freezing before any surgeries, but the process is expensive and time-consuming. I am worried about hormone stimulation for egg retrieval if I have BRCA mutations as well.

I need to understand my actual cancer risks versus living in fear of possibilities. What does cancer genome testing involve, and how accurate are the results for predicting future cancer risk?

Please help.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

I understand your concern.

Cancer genome testing (such as BRCA (breast cancer gene) 1/2 testing) is done through a blood or saliva sample. A positive result means you have a significantly increased risk of developing certain cancers, not a certainty. A negative result can greatly reduce your worry. The testing is highly accurate for detecting the specific mutations it is designed to identify.

With your family history, your likelihood of carrying a mutation is elevated. A positive BRCA result can indicate a 45-85 percent lifetime risk of breast cancer and a 10 to 46 percent risk of ovarian cancer.

Fertility and prevention:

Egg freezing is a common step before considering risk-reducing surgery. Discuss the safety of hormone stimulation with a fertility specialist who has experience working with BRCA patients.
PGD (preimplantation genetic diagnosis) is necessary if you undergo IVF (in vitro fertilization). This technology can test embryos and allow you to select those that do not carry the mutation.

Next steps:

Genetic counseling is essential, as it can explain your specific risks and clarify insurance coverage.
Knowing your status is empowering; it replaces uncertainty with a clear plan.
Create a coordinated plan with your genetic counselor, gynecologist, and fertility specialist.

I hope this helps.

Kindly follow up if you have more concerns.

Thank you.