The extremely talented actress and director Angelina Jolie made world news last May when she revealed in a New York Times op-ed that she’d taken the proactive step of having both breasts removed to prevent dying of breast cancer, as her own mother had at age 56.
Jolie had learned that she had a specific, inherited genetic defect that markedly increased her risk of breast and ovarian cancer. She had young children and a loving, supportive partner and wanted everyone to grow up and grow older together. She didn’t want to be the missing grandmother, as her own mother had been.
As you remember from high school biology, we get our genes from each of our parents. BRCA genes, when operating correctly, are among the many systems in our body that actually protect us from certain cancers. However, when they contain small abnormalities, also inherited, the gene loses its protective ability and risks for certain cancers skyrocket. These abnormalities are called SNPs (single nucleotide polymorphisms, pronounced “SNIPS”), and a woman can inherit about 77 of them. The wrong combination of SNPs–making the BRCA gene a defective one–spells trouble.
Physicians told Jolie she had an 87% risk of developing breast cancer. It’s the BRCA 1 and 2 genes that we know most about and, as in Jolie’s situation, can actually do something about. Yes, there are other SNPs related to other cancers, but since we can’t, for example, prophylactically remove our pancreases, all we can do is live our lives as healthfully as possible with the standard preventive techniques.
As a side note, we do know that low vitamin D levels are associated with increased breast and prostate cancer risks. It’s now believed that vitamin D really shouldn’t be thought of as just a vitamin, but rather as a unique molecule that acts by getting our genes to function better, protecting us from these cancers.
A major breakthrough in genetic disease testing occurred in early 2013
The US Supreme Court ruled against a company called Myriad Genetics, saying their discovery of the BRCA genes could not be patented. Before the ruling, Myriad had created a genetic testing monopoly and made the tests unaffordable to most Americans without the incomes of Angie and Brad. You can read the transcript of a PBS report on this decision here.
Obviously, other genetic testing companies were on tenterhooks awaiting this decision. At WholeHealth Chicago, we’ve partnered with Ambry Genetics to offer BRCA testing to our patients. But please keep three important facts in mind before you consider BRCA testing:
- Just 5% of breast cancers are BRCA-related. This means that while women coming from high-risk families require special testing, proactive decision-making, and regular follow-ups with their doctors, all women need to continue to follow the recommended mammogram guidelines.
- When a woman from a high-risk family tests negative for the BRCA mutation, her super-high risk drops precipitously, but she’s not off the hook altogether. She still needs regular mammograms.
- Not all women need BRCA testing. Testing is really only for women (and men) with two or more blood relatives who have had breast and/or ovarian and/or aggressive prostate cancers. Although the price of BRCA testing has plummeted since the Supreme Court decision, insurance companies are very specific regarding who they’ll cover and who they won’t. If you answer yes to any of the questions on page 4 of this link, talk to your physician about getting tested.
If you’re a WholeHealth Chicago patient and feel you’re eligible for BRCA testing, call and schedule a “lab only.” The test itself is a simple blood draw, which we’ll send to Ambry Genetics. We’ll also complete the required forms stating why we think you’re eligible for the test. Ambry will bill your health insurer directly. They’ve assured us that if your insurance covers genetic testing (most policies do these days) they will accept your insurer’s reimbursement rate and that your maximum out-of-pocket expense will be about $100.
Although I personally haven’t been thrilled with Supreme Court decisions during the past few years, this one, which broke up the Myriad Genetics stranglehold, is simply wonderful for women.
If you do test positive for BRCA, unless you have a medical center you’ve worked with in the past, we’ll refer you to the Inherited Susceptibility to Cancer Center at Rush University.
We’ll also recommend an appointment or two with one of our nutritionists so you can learn about healthful eating and breast cancer prevention.
David Edelberg, MD