What Should You Do If You Have a Positive Genetic Test?

What to Do If You Have a Positive Genetic Test

Positive Genetic TestGenetic Testing can tell us a lot about our risk for breast cancer. A positive genetic test means that a patient carries a genetic mutation such as BRCA1 or BRCA2. These positive test results puts patients at a higher risk for developing breast cancer.

According to Invitae’s Raluca Kurz, the next steps after receiving your positive genetic test results should include chemo prevention, surveillance, as well as surgical prevention.

Find out more about what you need to do after receiving positive test results in the video below.


Raluca Kurz:  So, individuals who carry mutations in what we now consider higher risk genes for breast cancer such as BRCA1, BRCA2, and probably two should consider seeing a genetic counselor if they haven’t already done so.  Well, tentatively they can discuss with their primary care provider the options which should include chemoprevention, surveillance, as well as surgical prevention.  When it comes to breast cancer risk, chemoprevention comes in the form of tamoxifen use.

Tamoxifen is a drug that has been traditionally been given to breast cancer patients, however, studies have shown that taking tamoxifen prior to developing breast cancer can significantly reduce the risk of developing the disease.

The second option for reducing breast cancer risk in BRCA mutation carriers includes increase surveillance.  This increased surveillance should include a breast MRI on an annual basis as well as a mammogram on an annual basis.  Ideally, these should be interspersed every six months, so that some type of imaging is performed on the breast twice a year.  Regarding prevention for breast cancer, currently the only option that we have is a bilateral prophylactic mastectomy with immediate reconstruction.

These types of procedures are not easy to undergo from the psychological, emotional, and medical standpoint and all of these discussions and decisions should be well considered and discussed with the healthcare provider involved in the patient’s care.  When it comes to ovarian cancer, the early detection is not as good as we have for breast cancer, therefore BRCA1 and BRCA2 mutation carriers should consider the option of ovarian cancer prevention once they have completed childbearing.  Typically, this involves removing the ovaries and the tubes in a prophylactic bilateral salpingo oophorectomy.

Again, this is a decision that needs to be thoroughly embedded with the healthcare provider involved in the patient’s care.  Screening does exist for ovarian cancer and it is in the form of a transvaginal ultrasound ideally with color Doppler accompanied by CA125 blood test, both to be performed concomitantly every six months.

Chemoprevention for ovarian cancer is actually the birth control pill, so studies have shown that individuals who take the birth control pill for five years or more uninterruptedly have their risk of ovarian cancer whether they are mutation carriers or in the general population, so the birth control pill is a useful technique to reduce ovarian cancer risk in BRCA carriers.  There are some studies that have shown there is an increase risk for breast cancer in individuals who take the birth control pill.  However, those studies were done years ago and the dosage for the birth control pill was much higher than currently available in our prescription.  This risk should be definitely discussed with the healthcare provider involving the patient’s care.  Ideally, a combination of any and all of those techniques should provide the patient with the best tools to reduce breast cancer risk and ovarian cancer risk as well as preventable for those diseases.