Should I Get Genetic Testing for Cancer Risks?

Many years ago, when I started seeing a new gynecologist, she looked at my information, noted that I am of Ashkenazi Jewish descent, and asked if I’d had genetic testing for cancer markers.

Ashkenazi Jews — of any gender — carry BRCA gene mutations at nearly 10 times the rate of the general population. In fact, 1 in 40 Ashkenazi Jews carries a BRCA1 or BRCA2 mutation that makes them significantly more susceptible to hereditary breast and ovarian cancers. These mutations may also increase the risk of pancreatic and prostate cancer, as well as melanoma and, rarely, acute myeloid leukemia.

I had undergone BRCA testing through one of the genetic ancestry testing companies, as part of the All of Us research program that the Miller School of Medicine participates in. Both had shown no known mutation, and I shared that information with my doctor. Even knowing that, she still wanted me to have genetic testing for cancer markers. She told me that genetic testing looks for variants of dozens of genes that increase your cancer risk – something I’d had no idea about. Still, I demurred. I had no family history of breast or ovarian cancer, and my health insurance wouldn’t cover genetic testing.

A few years later, my mom was diagnosed with ovarian cancer. Even though her oncologist was confident that it had no genetic component, my gynecologist was absolutely adamant that I needed to have genetic testing for hereditary cancers. My insurance still wouldn’t cover it, but the cost had come down and was within my budget, and I agreed to the testing.

Getting genetic testing for cancer markers

The actual process of genetic testing was easy: My doctor’s assistant swabbed my cheek and sent the sample away for testing. Several weeks later, my doctor and I had a telehealth appointment to go over my results. Analysis of more than 60 genes – that have variants known to increase the risk of at least 12 types of cancer – had revealed no known or likely cancer markers.

What did that actually mean for me? Genetics is only one factor in assessing cancer risk. Researchers believe that only around 5 – 10% of all cancers are hereditary. Having no known genetic markers for increased risk doesn’t mean you should skip your regular screenings. Annual mammograms (and, for me, as a woman with with dense breasts, ultrasounds) to screen for breast cancer, annual skin cancer checks, Pap smears to screen for cervical cancer, colonoscopy starting at age 45 to screen for colon cancer – all of these are save lives and and are crucial, no matter what your genes do or don’t say. I continued to get all these screenings.

More than 90% of breast cancers have no known genetic component.

I had nothing in my genetics or family history to indicate that I was at increased risk of breast cancer – just like the vast majority of the 1 in 8 women who will be diagnosed with the disease at some point in their lifetime.

I continued to get my annual mammogram and ultrasound. That’s how my early-stage invasive ductal carcinoma was discovered, about three years after my totally normal genetic screening. I was “only” 49 years old.

Why get genetic testing for cancer risks?

If some 90% of cancer diagnoses have nothing to do with genetic risks, then what exactly is the role of genetic testing in understanding your cancer risk?

For those whose genetics – or for that matter, family history, or other factors – suggest an elevated risk for cancer, this extra information can be invaluable — and potentially lifesaving. The mutations genetic testing looks at are used to inform screening plans, such as beginning breast or colon cancer screenings earlier than recommended for the general population, adding annual MRI imaging to breast cancer screening plans, or increasing the frequency of colonoscopies. They can also inform recommendations for lifestyle changes that reduce controllable cancer risks.

In addition, individuals with genetic markers that increase cancer risks may consider reproductive strategies that minimize the chances of passing on those genes to their children.

Working with individuals at higher risk

At Sylvester’s Eileen Youtie Genetic Predisposition Syndrome clinic, a team of experts work with individuals who have elevated cancer risks due to genetic mutations, as well as cancer patients with such genetic risks. “The Genetic Predisposition Clinic is the first of its kind, focused on previvors – someone who has an elevated predisposition for cancer due to a risk running through their family – as well as cancer survivors,” explains Carmen Calfa, M.D., the clinic’s medical director. “It’s a comprehensive and coordinated program offering emotional and psychosocial support, genetic testing, personalized care plans, navigation through high-risk clinics, and access to cutting-edge research. It’s all designed around prevention, risk reduction, early detection and improving outcomes.”

Strategies to reduce risk include medication, surgeries, and lifestyle changes.

For example, women whose genetics put them at increased risk for breast cancer can reduce their risk by up to 90% with a bilateral mastectomy, reduce it by 50% by having their ovaries removed, or reduce it by 30% by taking tamoxifen for five years. They may also be advised to have highly intensive screening – for instance, every six months instead of annually – that may detect cancer much earlier.

Lifestyle changes also play a role in reducing risk. At Sylvester’s Prevention Lifestyle Medicine Clinic, individuals with genetic mutations and other characteristics that put them at increased risk for cancer receive personalized lifestyle modification and support programs that include guidelines for exercise, diet and sleep. “Evidence suggests that modifiable behaviors, like following a healthy diet pattern, can attenuate overall cancer risk, even for individuals with genetic predispositions,” says Tracy E. Crane, Ph.D., RDN, director of lifestyle medicine, prevention and digital health and co-lead of the Cancer Control Program at Sylvester.

Sylvester’s Genetic Predisposition Syndrome clinic and cancer support organizations such as Sharsheret also connect individuals with genetic risks to emotional support from professionals and peers.

Why I asked my family members to get genetic testing

Genetic testing provides actionable information that saves lives. That’s why I’ve asked my friends and loved ones with Ashkenazi Jewish ancestry to talk with their doctors or with a genetic counselor about getting tested.

Shortly after my own diagnosis, I reached out to my six first cousins – all women, and all younger than me. In addition to sharing my own diagnosis, treatment plan and prognosis, I asked each of them to talk with their medical provider to set up a personalized cancer screening plan. I also shared information about genetic testing and why they should consider it, even if they had to pay out of pocket for it.

I also had a difficult conversation with my husband, asking him to have genetic testing. That’s because he’s also Ashkenazi Jewish, and men of Ashkenazi Jewish descent have a 1 in 40 chance of carrying a BRCA mutation that puts them at higher risk of pancreatic, prostate, melanoma or male breast cancer. Like Ashkenazi women, they also have a higher likelihood of other genetic mutations that increase their cancer risk.

Tap into all the tools to understand your own risks

I understand that thinking about genetic testing can be upsetting. The idea of finding out you’re more likely to get cancer is scary. You may have privacy and other concerns as well. But I urge you to talk with your doctor to understand your personal cancer risk profile, and whether you should have genetic testing for cancer-risk markers.

Knowledge can be powerful. Sylvester’s cancer risk questionnaire is a great place to start exploring your possible genetic cancer risks. The National Cancer Institute’s Breast Cancer Risk Assessment Tool can help you explore whether you have an elevated breast cancer risk.

Written by Rochelle Broder-Singer.

Tags: BRCA gene awareness, Dr. Carmen Calfa, Early Cancer Detection, Genetic mutation, Hereditary cancer testing