Is cancer genome testing a safe and accurate process?

Question

Hi doctor,

I am a 45-year-old woman with a strong family history of breast and ovarian cancer. My oncologist has suggested cancer genome testing. I want to understand what this test actually shows.

Does it mean that I already have cancer, or does it only indicate a higher risk of developing it in the future?
If the results show a mutation, are preventive surgeries the only option, or can medicines also help reduce the risk?
Is the test safe and accurate, and could the results affect my health insurance or future medical care?
I am also worried about the emotional impact of knowing the results. How do women usually cope with this information?

Please help.

Thank you in advance.

Answer 1

Hi,

Welcome to icliniq.com.

I read your query and can understand your concern.

It is important that you have clear information about your breast cancer risk. This includes both the general population risk and the higher risks that may come with family history. Family history means cancers that have occurred in your close relatives, such as parents, siblings, or children. If your family history changes over time, your risk may also change.

You should also know how to be breast aware, which means getting familiar with the normal look and feel of your breasts so you can notice changes early. Lifestyle choices also play a role in risk. For example, hormone replacement therapy (HRT), oral contraceptive pills, diet, alcohol, physical activity, breastfeeding, and the timing or number of pregnancies can all have an effect.

You can always bring a family member or friend to appointments for support. Contact details for local and national support groups are available, and joining them can give both information and emotional reassurance. If there are suitable clinical trials or research studies, your doctor will discuss these with you.

If you are being cared for in primary care along with the standard advice, please return to your doctor if there are any changes in your family history or if you notice breast symptoms such as lumps, nipple changes, or skin dimpling.

Given your family history, it would be wise to consult a breast surgeon, who is a specialist in breast health. If you carry a BRCA1 mutation, your lifetime risk of breast cancer is around 60 percent, and your ovarian cancer risk is about 10 to 40 percent. If you carry a BRCA2 mutation, your ovarian cancer risk is about 10 to 20 percent. These numbers can feel overwhelming, but remember that they guide us in taking proactive steps for your health.

For further screening, I recommend a transvaginal ultrasound (TVS). This is an internal scan using a probe through the vagina. It helps us check the endometrial thickness, which is the lining of the uterus, and the myometrium, which is the muscular layer of the uterus. If the lining is thicker than 5 mm, a hysteroscopy, which is a camera test to look inside the uterus, often with a small biopsy, may be needed. An ultrasound of both breasts is also strongly advised.

You are not alone in this. Many women face the same concerns. Having the right information, regular follow-ups, and supportive care will help you feel more in control of your health.

I hope this helps.

Kindly revert so I can assist you further.

Thank you.