The personal choice – genetic testing and cancer prevention

I am sure many people heard that today the actress Angelina Jolie Pitt made her surgery public that removed her ovaries and fallopian tubes as a preventive measure to prevent ovarian cancer. She had previously had her mammary tissues removed to prevent the breast cancer as well.

Ms. Jolie Pitt is a carrier for a BRCA1 mutation that significantly increases her risk of developing breast and ovarian cancers. BRCA1 is a gene that when mutated causes some abnormalities in cells, one of which is the transformation of cells into cancer cells.  Ms. Jolie Pitt’s has expressed earlier that her mom had died of ovarian cancer; I am assuming her mom was also a carrier of this mutation.

Today’s public announcement by Ms. Jolie Pitt is followed up by opinions by others; some medical doctors says she has done the right thing, some individuals highly support her decision, and some others oppose it; if you look at the internet you can find examples these opinions.

I have a couple of things to say:

1. The increase in public awareness made by Ms. Jolie Pitt about hereditary cancers, specifically hereditary breast and ovarian cancers, is huge. It may or may not be easy to disclose such as personal information, but I personally thank her for her decision to publicly mention her story, increase the awareness, and help people think and discuss about these diseases, cons and pros of genetic testing, and the possible prevention measures (I am not saying that everybody should follow or should not follow her decision – please see below).

2. That being said, there are many women and men, who are carriers of mutations in BRCA1 or another gene (BRCA2) that increase their risk of developing breast and ovarian cancers, whose story remains unknown to many. Sometimes this is by choice (for example, to protect the privacy of individual or their family members, and to prevent potential negative consequences of disclosing such information) and sometimes even though the individuals are vocal about it, their voice and stories do not make a comparable impact on public’s awareness. In the first case, I think it is everyone’s own decision either way (to disclose or not to disclose) and I respect everybody’s decisions. Eventually, it is these individuals (and possibly their family members, as there is a chance that other family members who may carry these mutations are at increased risk of developing the diseases as well as the potential consequences of this knowledge) who will be most impacted by their genetic make-up and family history. But, I keep wonder why those individuals’ stories do not impact the society as a whole as in the case of Ms. Jolie Pitt’s case. I kind of know the answer, but I will leave it to you.

3. Important thing about genetic testing is the informed consent, where the individual is informed about potential consequences (such as estimation of the probability of developing a disease – in this case breast and ovarian cancers – so that individuals are aware of their risk and then can decide what to do in the light of this information). Surgical removal of susceptible tissues (such as breast and ovaries in the case of Ms. Jolie Pitt) or frequent monitoring of the susceptible tissues my imaging and other cancer detection methods without the radical surgery are among the options.

4. Some individuals may decide not to get genetic testing and thus not to learn their risk, and I respect that decision too. There may be negative consequences to genetic information (also here). I think it is a personal choice to get the genetic test or not, or to decide how to prevent the disease (or not), as long as the individuals are given knowledge on the potential positive as well as negative consequences (on themselves as well as possibly their family members) and they have had enough time to consider, contemplate, and decide what is best. Also it is their choice to disclose this information.

In summary, in my humble opinion, when comes to genetic testing and cancer (or any other inherited) diseases, the only thing wrong is not informing the individuals adequately about the potential consequences and their future choices. Informed knowledge is the power. Let the individuals decide.

PS. this is not a comprehensive essay on such a critical subject, so please do not take it at its face value. Seek knowledge and opinion from others, especially genetic counsellors and medical professionals.

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