Variants of Angelina Significance

• The public recently got to hear from Angelina Jolie about her decision to perform a double mastectomy in light of her having a genetic mutation in the BRCA1 gene T.

  The op-ed piece in the New York Times received tremendous international attention – quickly spreading through the print, broadcast, online and social media world.

  

  The choice to publicize a difficult personal medical decision is a one worthy of praise – especially for a private supernova like Jolie. No patient has an easy time when making the decision to undergo surgery – even if it is for preventative reasons, as this was. Having been in Ireland last week where this was the hottest topic among both medical professionals and lay people, I can confidently say that it is not an overstatement to suggest that hundreds of millions of women (and men) around the world are now suddenly aware of this issue.

  But it’s important to take a step back and recognize that although Jolie made a good decision about genetic testing and surgery for her situation specifically – one that she and her doctors together felt to be appropriate – we must be cautious about generalizing it to ourselves. Women have been found in studies to consistently (and understandably) overestimate their risk of developing breast cancer based upon their personal and family history, and so an objective assessment is important to determine how high that risk truly is and whether a person really should have genetic testing performed.

  What is also not frequently discussed is that genetic counseling from a qualified genetics professional is vital. Most people don’t realize that having a BRCA mutation is not as simple as a “yes” or a “no.” There are mutations known as variants of undetermined significance which do not present the same elevated risk as the “bad” mutations. Meeting with a qualified genetics professional about all such possibilities before testing is critical so that all possible results get discussed at the outset and a measured and effective plan can be developed for each possible scenario. A clinician who sends off genetic testing with minimal discussion should raise a red flag in the mind of any patient, despite the anxiety and eagerness to determine one’s own genetic “profile.”

  Moreover, concern solely about BRCA1 and BRCA2, referenced in the New York Times op-ed piece, potentially ignores other genetic syndromes that can be suggested from someone’s personal or family history. Only a qualified genetics professional can assess whether the BRCA gene or another gene’s mutation is most likely to be an issue, and put the patient at risk of a different spectrum of cancers in the future.

  Many of these gene-positive individuals decide upon lumpectomies and radiation, which is safe but rarely discussed, while others decide to omit the genetic testing, and make decisions solely upon other factors such as family history. The patient-driven trend to undergo mastectomies over lumpectomies with radiotherapy, when the two are equivalent options, has been alarming to the medical community (as highlighted in another New York Times article). Although the mantra “bigger surgery is better” is a hard one to overcome – some women are never told that they can still develop a new breast cancer or even have a recurrence in the same breast after mastectomy. (This is because we cannot remove every last cell, and tissue surrounding the skin’s blood supply over the breasts must stay.) After all, if mastectomies eliminated the risk of breast cancer, we would remove everyone’s breasts at a young age and the breast cancer plight would be solved.

  The brave decision that Jolie made should not be minimized, and should serve to highlight the same dilemma repeated every day by individuals whose quiet struggle cannot garner such media attention. These individuals grapple with the same issues, enlisting the support of their families, their loved ones, and their physicians, and do so quietly outside the view of any photographic lens.