One Woman’s Results from Genetic Breast Cancer Screening
By Sarah J. Schmidt
Editor’s note: LEAN‘s spring issue featured a story by Sarah about two Alabama women who were taking advantage of HudsonAlpha & Kailos Genetics‘ free breast cancer genetic screening for 30-year olds. Here, Schmidt follows up with one of those women after she receives her test results and learns what it means for her future.
“No variants of known clinical significance,” thus began the findings of Andrea Williams’ genetic test results for breast cancer, signaling a huge sigh of relief and a relaxed smile that brightened her whole face.
But almost immediately, the smile turned serious as 30-year old Williams posed questions about exactly what this meant. Given the long history of breast cancer on both sides of her family, Williams realized the negative genetic test did not mean she was completely out of the woods.
The stark reality is that one in every eight women alive today will develop breast cancer during her lifetime. Some of those cancers will be caused by hereditary genetic mutations on the BRCA1 and BRCA2 genes, which the world first heard about in the mid-1990s when scientists at the National Institutes of Health identified those two genes with direct links to breast and ovarian cancers.
Additional genes or mutations may also contribute to breast and ovarian cancer, but as yet, only BRCA1 and BRCA2 have been positively identified. Within the last decade, genetic testing for these two genes has become more widespread as entrepreneurial biotech companies introduced simple screening kits that anyone can order without a doctor’s prescription.
The cost for genetic screening was initially prohibitive for most people, but some companies like Huntsville, Ala.-based Kailos Genetics developed advanced gene-sequencing techniques, leading to more affordable tests that cost only a couple hundred dollars.
Andrea Williams followed these developments with great interest. She considered genetic testing in 2007 when her grandmother died of breast cancer, but the cost back then was astronomical. She asked her doctor about it and discovered insurance wouldn’t pay, so she shelved the idea.
Since then, two of her aunts have been diagnosed with breast cancer, heightening her concerns. When a co-worker posted a flyer at Williams’ office last fall about free genetic breast cancer tests, she jumped at the opportunity.
The flyer announced a screening program, launched in October 2015 by Huntsville’s HudsonAlpha Institute and Kailos Genetics, providing free breast cancer genetic tests for 30-year olds residing in Madison County, Alabama. The idea arose out of Kailos Genetics and HudsonAlpha’s commitment to foster a genetically informed population, starting in the north Alabama communities where the two companies’ employees live, work and play, explained Kailos Chief Scientific Officer, Troy Moore.
It made sense to offer the test to 30-year old women, Moore said, because that is the age when most experts recommend women at high risk should begin mammograms instead of waiting until their 40s or 50s when women typically receive mammograms for the first time. A positive result on a genetic breast cancer test lets a woman and her doctor know she is at high risk and should take additional preventative steps, like early mammograms, that might not otherwise be available until much later in her life.
The nonprofit HudsonAlpha Institute is funding the program with private donations through October 2016. The institute reports that more than 1,000 test kits have already been processed, with less than 5 percent testing positive.
Kailos doctors and genetic counselors contact all participants who test positive and walk them through the results, helping them understand how to use the information and share it with their healthcare providers.
“A positive test result does not mean you have cancer,” as HudsonAlpha bioethicist Kimberly Strong, PhD, is quick to point out. “It means you have an increased risk for cancer.” Likewise, a negative test result does not mean you will be cancer free forever.
Dr. Strong notes other factors such as environmental exposure and lifestyle can also cause cancer. “Genetic testing is supplemental to, not in place of traditional cancer screening,” she stresses.
That’s exactly how Andrea Williams looks at the test, especially now that her results have come back negative. “In my mind, these tests are just another form of early detection,” she said.
Williams had expected she might test positive for BRCA1 and BRCA2, given her family history, and had already thought about what steps she might take afterwards, what her options might be and how to plan.
“Then that didn’t happen, so I was relieved, but then I asked myself, ‘what other information is out there?’ Who knows what scientists will discover in the coming years? This has totally sparked my curiosity, and now I pay attention to news about every genetic discovery that’s reported,” Williams confides.
HudsonAlpha and Kailos are offering a free breast cancer screening kit to any Madison County woman who is 30-years old. Anyone in Madison or the surrounding Alabama counties of Jackson, Limestone, Marshall and Morgan, may purchase the kit for $99. If you don’t qualify for the free or reduced price kits, but are over the age of 19, you can order a test kit for $225 online at kailosgenetics.com.
Taking the Test
It’s really simple. Order the test kit online here. Follow instructions to swab inside your cheeks with cotton sticks provided in the kit. Mail swab back to Kailos. Results are ready in about two weeks.