Testing for BRCA mutations is daunting but could be lifesaving

Kyra: After Angelina Jolie was diagnosed with a BRCA1 mutation last year and underwent a prophylactic mastectomy, media shed new light on the risk and consequences of the BRCA1 and BRCA2 genes or, more correctly, mutations of those genes inherited from one’s mother or father.

Dr. Wes Crenshaw and Kyra Haas

Accounting for about 20 percent to 25 percent of hereditary breast cancers and 5 percent to 10 percent of all breast cancers, these mutations can have a devastating emotional impact on those who learn they have them. However, fear should not deter genetic testing.

Jolie was in her late thirties, but testing sooner is highly recommended if family history suggests any possibility of BRCA mutations. Nevertheless, certain consequences should be considered before seeing a genetic counselor:

Physical: A positive test for a BRCA1 or BRCA2 mutation does not mean the person will absolutely develop breast cancer, but 45 percent of women with BRCA2 mutations and between 55 percent and 65 percent of women with BRCA1 mutations will develop breast cancer by age 70. Given that risk, the Susan G. Komen Foundation encourages women with positive tests to consider taking risk-lowering medication or having a preventative mastectomy.

Emotional: Knowing one’s genetic makeup is frightening enough without knowing it includes a cancer-spawning mutation. Concern about passing such a gene on to one’s children or having already done so can be debilitating. And for those who test negative, survivor guilt is common, especially around family members who do carry the gene.

Financial: Insurance policies vary widely in coverage for genetic testing. While the procedures are simple blood tests, a patient’s out-of-pocket cost can be anywhere from a few hundred dollars to several thousand dollars.

Wes: I’m rarely unprepared for a 20-year-old’s concern. I imagine that I’ve heard them all before. But, “My mom has breast cancer. She wants us to be tested for the BRCA gene, and I’m scared,” isn’t your average concern. It is, as one of my recent clients put it, terrifying.

I’ve seen many women go through the experience of breast cancer, as individual clients and as members of couples and families, and I am amazed at the advances in treating it. Something good happens every year in prevention, radiation, chemo and reconstruction. But most of those women are well past thirty when first facing this issue. In fact, the Mayo Clinic and American Cancer Society don’t recommend yearly mammograms until age 40, and the U.S. Preventive Services Task Force doesn’t recommend them until age 50.

The problem of BRCA mutation, which Kyra nicely summarized, is different. The dilemma isn’t what genetic testing tells a patient — a daunting risk profile based on population statistics. It’s what it can’t tell anyone — precisely, what to do in response. Even the idea of a prophylactic mastectomy, though potentially lifesaving, is a calculated risk management procedure that very few women are prepared to face. While that’s true at any age, it’s particularly so for younger women who thought they could table those concerns until at least mid-life.

We used to pose the question of knowing the future as a fictional prompt for interesting discussion. While genetics certainly can’t offer a real life crystal ball, it increasingly gives us the ability to look into our bodies and understand more about them. With that great power comes not only great responsibility but the need for epic judgment on the part of both health care providers and patients, which comes with wisdom and maturity that may be lacking earlier in life. Thus, another dilemma.

Here’s what I can tell you for sure: The powerless position is never the correct one. Avoidance, while temporarily calming, isn’t helpful and, in the case of BRCA, could be dangerous. Parents, particularly those with a detectible history of breast and ovarian cancer in their family tree, should keep up to the minute on emerging research and recommendations and help their daughters take a calm and thoughtful approach to this issue as they move into and through their twenties.

The other sure bet in this story is that tomorrow we will know more. And more again the next day.

–Wes Crenshaw, Ph.D., ABPP, is author of “I Always Want to Be Where I’m Not: Successful Living with ADD & ADHD.” Learn about his writing and practice at dr-wes.com. Kyra Haas is a Free State High School senior who blogs at justfreakinghaasome.wordpress.com. Send your confidential 200-word question to ask@dr-wes.com. Double Take opinions and advice are not a substitute for psychological services.