Amy Byer Shainman, also known as “The BRCA Responder,” is a patient advocate who provides support and education surrounding BRCA and other hereditary cancer syndromes. She’s also the executive producer of the award-winning documentary Pink & Blue: Colors of Hereditary Cancer and co-creator of “#GenCSM (Genetic Cancer Social Media).” As a digital ambassador for the National Society of Genetic Counselors gene pool, Shainman is considered one of fifteen influencers who have unique perspectives and knowledge in the fields of genetics and genetic counseling.
Shainman is a BRCA1 gene mutation carrier and a “previvor”—a survivor of a predisposition to cancer, someone at extraordinarily high risk for cancer who has not had the disease. In 2010, she had two prophylactic surgeries to drastically reduce her cancer risk; a nipple sparing, skin-sparing mastectomy with reconstruction and oophorectomy with a hysterectomy. Her new book, Resurrection Lily, documents her journey. Salonpas sat down with Amy to learn more about her mission:
Why did you decide to test whether you had the BRCA gene mutation?
My sister was diagnosed with two separate primary cancers in 2008, both ovarian cancer and uterine cancer. At an ovarian cancer conference the following year, she learned that she had many red flags for Hereditary Breast and Ovarian Cancer Syndrome. So, upon her return, she requested that her health providers refer her to genetic counseling and genetic testing. She subsequently tested positive for a BRCA1 gene mutation. Everyone is born with two BRCA1 and two BRCA2 genes. When you are born with a BRCA1 or BRCA2 gene mutation (also known as tumor-suppressing genes), one of those BRCA genes is not working. Therefore you only have the protection of one working gene and inherently have an increased risk of certain cancers. BRCA is an autosomal dominant condition, meaning as her full-blood sibling, I had a 50% chance of inheriting the same gene mutation. Autosomal dominant means only one abnormal gene from only one parent is required to have a condition or disease. I learned that having a BRCA1 or BRCA2 gene mutation significantly increases a woman’s risk of breast and ovarian cancer. Both women AND men can carry AND pass on a BRCA1 or BRCA2 gene mutation to daughters AND sons.
What inspired you to become a patient advocate on BRCA?
Once I learned about BRCA and hereditary cancer, I realized I had these pearls of life-saving wisdom. I knew I could I could not live with myself if I remained silent about the information. Also, I was angry. BRCA1 was first discovered in the laboratory of Dr. Mary-Claire King in 1990, it was cloned in 1994, and widespread clinical genetic testing for both BRCA1 and BRCA2 became available in 1996. So, why were healthcare providers and my family unaware of BRCA mutations at the time of my sister’s initial diagnoses? Why weren’t the dots being connected? Lives were at stake, and both healthcare providers and people were unaware; my anger was fuel to educate and empower others, to hopefully save lives.
Is it important to undergo genetic counseling before testing your genes?
YES. Genetic testing is not black and white, like a pregnancy test. Vital healthcare decisions may be based on this one genetic test. Therefore, it’s crucial to make sure the most qualified person is:
1) Assessing your cancer risk
2) Administering the correct gene test (if any)
3) Interpreting your genetic test results (positive or negative)
The most qualified person is a certified genetic counselor as they have advanced training in medical genetics and counseling. Most primary care physicians are not trained in medical genetics. Also, genetic counselors know the most trustworthy laboratories and the ins and outs of insurance coverage.
Even if there’s strong family history, do you think some people should NOT test for gene mutations?
It is always an individual’s choice whether or not to undergo genetic testing. It is not for me to say or anyone else to say whether someone should or should not undergo genetic testing.
What I can say is this: If you are concerned that you may have an increased risk of developing certain cancers, speak with a certified genetic counselor. They will educate you on what genetic testing may mean for you and your family. Also, speaking with a genetic counselor does not mean you have to undergo any genetic testing. Genetic counseling is a conversation. Genetic counselors are translators of complex medical information who guide you so you may make the best healthcare decisions for yourself. You can speak to one by phone or in person.
TO FIND A CERTIFIED GENETIC COUNSELOR go to the: National Society of Genetic Counselors https://www.findageneticcounselor.com
Describe a typical day in your life: from when you wake up to when you retire.
Well, first, my husband and I get our teenagers off to school. I then usually cuddle up with my dog and one cup (or three) of coffee for about an hour. I will play a word game on my phone to get my mind going, and then I typically dive into my emails. Every morning is different, but my kids are always my priority in the afternoon. Some mornings I may talk on the phone with someone who needs support. Other days I may have an article to write or I focus on my social media. Currently, I am focused on 1) continuing to publicize my BRCA memoir Resurrection Lily and 2) fulfilling my role as consulting producer on a new feature film LADY PARTS. The film highlights what it’s like to be a BRCA positive woman at high risk of developing breast and ovarian cancer.