Should Genetic Testing Be Routine for Breast and Ovarian Cancer

Should genetic testing be the standard of care for most newly diagnosed breast and ovarian cancer patients? Clearly this is sometimes less relevant, but it is often a question that may impact treatment choices and certainly matters in someone’s personal and family life. Fewer than half of all women who should be offered the testing receive it. We don’t know if they were given the option and refused or whether the conversation did not happen. It is obvious that not everyone needs this counseling, but it is probably relevant for more women than we initially imagined. Who clearly does not need it? Examples would include a 75-year-old woman with no family history of breast or ovarian cancer. Who does need it? A 35-year-old woman who has several first degree relatives with these diagnoses. These extremes leave a lot of people somewhere in the middle.

In a support group I convened this week, we had a long conversation about this. About half of the women, all of whom have breast cancer, had been offered genetic testing; the other half had not. One women from the "had not" half requested it herself, some months later, and she turned out to carry a BRCA gene mutation. For better or worse, she had already opted for bilateral mastectomies for other reasons, but she worries that, if she had made a different surgical decision, she would now be plagued by regrets and worries and the possible need to do more.

There are now home testing kits available, and these raise a myriad of other concerns and issues. Although the testing results are the same, I believe it is vital that women not be left alone to receive the information and process the complicated and nuanced decision. It is definitely not so straight-forward, not clearly a yes or a no about being tested and then considering the options once the results are available.

For most women, the best moment to have genetic testing is shortly after diagnosis. For women with breast cancer, learning of a positive BRCA1 or BRCA1 result may impact the surgical choice. For women with ovarian cancer, the immediate decisions may not be affected, but other considerations may be raised. Practically, this means that the surgeon is often the physician who is positioned to raise the subject. Given all the other things that must be discussed and given the intense emotions of the moment, this may or may not happen.

There likely are many reasons that not every newly diagnosed woman has the opportunity to consider genetic testing. Although the cost of the test has come down, it is still not inexpensive and not everyone has insurance that will cover the bill. It is possible that not all surgeons keep this issue front and center in their minds as they discuss a new cancer diagnosis.

It is possible that some women don’t want to hear about it. It is understandable that, in the midst of the panic of a new cancer, that considering genetic testing may be a step too far. If the new diagnosis is breast cancer, it is important that a woman understand the possible implications of a possible genetic test as she thinks about surgery. It may be that a positive genetic mutation would not change her decision, but it is also possible that it would increase the chance that she opt for bilateral mastectomies. It is important to note here that bilateral mastectomies are not the only choice in this situation. Some women prefer to deal only with the known cancer and to proceed with careful monitoring, annual mammograms and breast MRIs, going forward. As always, the most important thing is being well informed and well supported in making choices.

At BIDMC, as is true at all academic medical centers, we have a strong group of genetic counselors who are prepared to have this discussion. In ideal circumstances, a newly diagnosed woman would hear the outline of the problem from her surgeon and, if she wants, would be given an appointment to talk further ASAP with a genetic counselor. Another reasonable choice would be to concentrate on the immediate problem and meet later with a genetic counselor. In this case, knowledge is definitely power.