Although genetic testing is becoming more commonplace as an option for knowing your cancer risk, it wasn’t always seen as an advantage. During her time as a surgical oncologist specializing in breast surgery at NYU Langone Health for more than 25 years, Amber A. Guth, MD, has seen significant shifts in how these tests are perceived. She talks about what this could mean for testing and counseling in the future.
HealthCentral (HC): When genetic testing for breast cancer — specifically, the BRCA1/2 — first became available in the 1990s, was that seen as a breakthrough in risk management?
Dr. Guth: Not at first, no, because there was such stigma involved, and also a great deal of uncertainty about how that patient would be treated by employers and insurers as a result.
In fact, when a patient had a BRCA mutation, I wouldn’t even put it in the chart. I’d make a note on a Post-It, and then if that file was requested, I’d remove the note and put it in my pocket. That’s how cautious we were about not wanting that information to be used against the patient. Many people were afraid, and rightfully so, that they might get fired or lose insurance for being high risk.
HC: What changed? At what point did you feel comfortable including a genetic mutation in a patient’s record?
Dr. Guth: The Americans with Disability Act was passed in 1990, but it took some time before that was seen as protection against job loss or insurance rejection. So, it wasn’t until the late ‘90s that patients began to feel comfortable sharing the information.
More recently, there’s the “Angelina Jolie effect,” when she was so very open about carrying the gene [mutation] herself, and her decision to have a preventative double mastectomy, and later, surgery to remove her ovaries and fallopian tubes. That was a boon to public awareness, and it was helpful in opening the conversation for many people. As more people started talking about it, that prompted discussions in families about medical histories, and that’s truly a great shift.
HC: Is there any additional boost in awareness from the growth of commercial genetic tests?
Dr. Guth: Yes, it’s one more step toward making people willing to talk about genetic mutations, and more open about having them, than they used to be. That can be especially true if they’ve had friends or family who have been through cancer. Through testing, they feel like they have a sense of control over their amount of risk.
Having this much awareness is coming at a great time, because our understanding of breast cancer is also changing. For example, we’ve found that patients who carry these gene mutations are much more likely to develop additional cancers, and that’s crucial to know for prevention and screening.
HC: In terms of genetic testing, who should be thinking about whether it’s appropriate?
Dr. Guth: The biggest impact is cancer history among first-degree relatives, which means a parent, sibling, or child. Also, if there’s history among multiple family members, or if cancers occur at a very young age. Those are the three trigger points that make us think about genetic risk for cancers.
There’s less risk if it’s not a first-degree relative, like an aunt or grandmother, unless you’re looking at a whole lineage of cancer on one side of your family. For example, if your great-grandmother, grandmother, and aunt have all had breast cancer, that would be worth looking at genetic testing.
HC: What tends to go into the decision for a preventative surgery, like a mastectomy?
Dr. Guth: First, you would look at the type of BRCA mutation, because some carry a significantly higher risk of cancer. But even then, some patients choose to have surgery even if they’re lower risk because they can’t tolerate the uncertainty of a potential breast cancer diagnosis. Or they choose other preventative measures like having chemotherapy but not surgery.
For every patient, it’s a very personal and individual decision. Fortunately, having genetic testing gives us an important tool for starting conversations about risk and creating a starting point for making those decisions.
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Elizabeth Millard is a freelance journalist specializing in health, wellness, fitness, and nutrition. Her articles have appeared in SELF, Men’s Health, CNN, MyFitnessPal, and WebMD, and she has worked on patient education materials for Mayo Clinic and UnitedHealth Group. Find her on Instagram at @bossykind and on Twitter at @EMillard_Writer. Her online portfolio is at elizabethmillard.pressfolios.com. When not writing, she’s also a yoga teacher and organic farmer.