At a time where ancestry and ethnicity tests are available with the click of a mouse, it seems that more women in the "low risk" categories may be pursuing genetic testing for mutations such as BRCA while those of us in the "high risk" category put it off.
A study released today in the American Journal of Preventive Medicine found that the percentage of women tested for cancer-causing mutations without a history of cancer rose from 24.3% in 2004 to 61.5% in 2014. The researchers said although these women were referred for testing, they did not meet traditional requirements or have family histories. Yet, testing for women who do meet these requirements or have personal and family histories seemingly lagged behind.
Perhaps what these high-risk women – or men – realize is that the journey to genetic knowledge isn't always quick or clear-cut. It's not 'Oh, I'm 2 percent Ashkenazi Jewish, isn't that neat?' Often, even the most prepared of us take an emotional and intellectual hit upon seeing our results and perhaps when we are coming from a background of familial cancers, it takes more to move forward. For me, Ancestry.com or 23andMe.com were not enough. I needed to know, whatever my results, they were real and that I was in a place to move forward with them.
For me, the timeline looked like this:
September 20, 2012: Received documents to fill out to see if I even qualified for testing
This was after researching my options for testing in my area. It's not always straightforward to get in for these tests and my chosen medical establishment required a stack of forms.
Even the most reputable of online testing services will require questionnaires and confirm you qualify for genetic profiling.
November 29, 2012: Made an appointment for genetic counseling and to maybe have blood drawn
Though some doctors – primary care or OB/GYN – may offer to order a test for you, it is highly suggested that someone with a strong family history of breast or ovarian cancer be counseled about the impact of these results. Certified genetic counselors can help explain the risks and ensure you are ready to have the test at that moment.
December 7, 2012: Had genetic counseling and blood drawn
In this meeting, the genetic counselor can also become your advocate for insurance coverage. Insurance usually does not cover "unnecessary" testing. There are certain criteria that one must meet in order to qualify. For me, I had a paternal grandmother and aunt who died from breast and ovarian cancers. I am also Jewish, on the same side of the family as the cancers, which put me at a higher risk.
January 11, 2013 – Received my test results
I am lucky enough to be at a center like Basser, at Penn Medicine's Abramson Cancer Center, where I received my results from my genetic counselor and immediately saw an oncologist to discuss a plan.
There is not one plan for all of us who share a predisposition for cancer. Anyone pursuing genetic testing should understand this. While some of us may choose surgery at the soonest possible date, for others, it just is not that direct.
For me, I wanted to complete my family. I wanted to research my surgical options. I wanted to know what my choices were before I made such permanent decisions as a mastectomy or a hysterectomy. I was just 31. At my age and with my family history, it was realistic to undergo increased surveillance. For many women, surveillance is what they choose for the long term.
I had my prophylactic mastectomy on Dec. 1, 2016, four years after a tech drew my blood and submitted my genetic testing to my insurance company. My path to this decision was winding and longer than some of my fellow mutants, but it was right for me. And because my pathology was all benign, it theoretically saves money in the long run as I will hopefully not need chemotherapy, radiation, etc.
Due to my BRCA positive results, my family members have been or will be tested. My daughters will be tested. We might very well live longer than any of the women in our family in three generations.
For some people, genetic testing is necessary due to their risk factors, but no known mutation is found. Women diagnosed with breast cancer before menopause or those with very strong family histories deserve to know if there is more they can do for themselves and their families. Their negative results do not negate the necessity of their tests and one can only hope their genetic profiles add to our communal knowledge of hereditary cancers.
In the past few years, new mutations have emerged that manifest varying levels of risk. The future may hold even more, but the only way to discover them is to test within families hit hard with these cancers.
If you recognized yourself in Angelina Jolie's story of losing her mother to cancer, which drove her to genetic testing, do not let the others' timeline of action put you off from rewriting your own story. The knowledge itself can change your path or even save your life.
Katrina Altersitz Wells edits medical news publications in South Jersey where she lives with her three daughters and husband. In 2013, she found out she is a carrier for the BRCA1 mutation. She blogs at Curiosity Saved the Kat.