Mutation of the BRCA breast cancer gene and its link to hereditary breast and ovarian cancers has been well established for over two decades now. In fact, medical advances have enabled a number of commercially available BRCA genetic tests to be purchased through physicians today for as little as $69. Armed with the genetic knowledge, BRCA mutation carriers have frequently opted to undergo prophylactic double mastectomies (removal of breasts) and oophorectomies (removal of ovaries), thereby avoiding the almost inevitable suffering and premature death from inherited breast and ovarian cancer.
Ariel Goodman, who learned of the BRCA test through a featured article in TIME Magazine in 1997, had an innate sense that such a test represented a critical life-saving window of opportunity for herself. Unfortunately, ignorance and false assumptions on the usefulness of this test ultimately prevented Ariel from accessing the BRCA genetic testing in time. In 2009, she was diagnosed with stage IV BRCA-linked ovarian cancer. She writes:
“Sitting on my bookshelf is the 1997 Time Magazine that has the discovery of the BRCA gene on the cover. Being half Jewish on my father’s side, I decided then and there to keep that magazine as my father’s two grandmothers both died of breast cancer in their 70s. I wanted to get tested but my doctor told me that she couldn’t order the test. I was told that I needed a first degree relative with a breast cancer diagnosis, meaning my mother or sister had to have it. My mother being an ethnic catholic Belgian was not considered high risk and since I was an only child, I would never have a sister with cancer. I went to several different doctors trying to get anyone to write the test prescription, yet none would. That too, my father, who was an emergency room surgeon, was convinced that his side of the family only suffered from heart disease, not cancer. What they ALL neglected to tell me was that insurance companies wouldn’t pay the $3600 for the test. None gave me the option to just pay for it, as I had the money and gladly would have.”
More disturbing was the obfuscation of information by Ariel’s own extended family members, who understood that her cancer in fact harbored BRCA gene mutations, yet did not come forth, perhaps out of fear or shame or both. Ariel recalls:
“Many of my cousins from my father’s family came out of the woodwork to visit me at the hospital including a cousin who lived a town away and was about 15 years older than me, and who was diagnosed with breast cancer in 1999. Shortly after my diagnosis, she called to offer her son as a driver for me. I asked her candidly if her cancer was BRCA1 positive and to my surprise she said yes! This was a huge disappointment. While my cousin had her immediate family tested for the BRCA gene mutation, she intentionally failed to inform me of this potential risk. Consequently, I have endured more than nine years of needless pain and suffering, not to mention the financial cost of over $3 million spent (out of pocket and by my insurance company) on numerous treatments and procedures, year after year. I marvel today that there is not a law forcing relatives to give this valuable information to their family members.”
Ariel’s story reminds us that while discovery of game-changing biotech innovations are key to progress, public awareness, education and access to such innovations by those who stand to benefit is equally critical. Had Ariel’s doctors and her own father understood that the BRCA gene mutations could be passed down through her paternal grandmothers, had they not assumed that she was incapable of affording this costly test, had her cousin revealed the dark secret driving the malignancy of her cancer, Ariel would be in a different place right now, physically, emotionally, financially, even spiritually.
We should learn from experiences like Ariel’s to not let fear, stigma, assumption, and ignorance blur our vision as either patients, caregivers, or researchers.