Genetic health awareness: Why you may need to retest if you've had genetic testing

Posted at 12:32 PM, May 01, 2019
and last updated 2019-05-02 12:29:29-04

Genetic tests can unlock more of your potential health concerns than ever before, but there are limitations and considerations before you submit your DNA.

Inside the Fit Body gym, you can hear instructor Shannon Burrows calling like a cheerleader to her class.

"Keep it up!" she shouts. "Ten seconds to go!"

Burrows appears to have boundless energy. The certified personal trainer knows her body better than most; she exercises regularly and eats healthfully, teaching her daughter to do the same. She recently took an at-home 23 and Me health test to get a more complete picture of her genes and her health. The test gave her some insight into how her genes might make her more likely to struggle with certain health issues.

"All of my test results came back fantastic, I had no increased risk of breast cancer, ovarian cancer, no cancer whatsoever, which is kind of ironic, because at that point, I had already been diagnosed," she said.

Burrows, who has no known family history of breast cancer, was diagnosed in 2017. She attributes the issues to hormone therapies used for IVF to the cancer, but it's also possible the test did not pick up the genes responsible for her risk.

As her 23 and Me results clearly state, it was only testing for 3 major mutations linked to breast cancer. More comprehensive tests that look at thousands of mutations are administered by doctors.

Nancy Taft, MD is medical director of the Comprehensive Breast Program at Jupiter Medical Center's Margaret W. Niedland Breast Center. The breast surgical oncologist says there needs to be a clear understanding of the differences between different types of genetic tests, particular ones conducted at home versus by a medical professional.

"The direct-to-consumer, we call that "recreational genetics," it's interesting but it's not complete," she said.

More complete are the broader gene panels developed in recent years, combined with genetic counseling, according to Taft. The well-publicized BRCA 1 and BRCA 2 genes are just parts of the potential results.

"With some of those genes, they are at increased risk for colon cancers, pancreatic cancers, other cancers," Taft explained.

In just the last few years, technology has changed so quickly, there are hundreds of newly-identified markers.

"I would say if someone's been tested before 2014, 2015 they absolutely should come back to their doctors," she said.

Burrows teaches an exercise class filled with breast cancer survivors, often offering modifications for those recovering from surgery. Each person has their own experience with genetic testing.

Sheila Perry's breast cancer was triple negative, a very aggressive form. She was first diagnosed as stage I, but by the time she went for surgery, the tumor had grown 10 times its size and she was considered stage III. There wasn't time for genetic testing before her surgery. In some ways, she says, she wishes she could have had the test done sooner.

"I ended up having 5 surgeries in 3 years, if it could have saved a couple of surgeries, it definitely would have been easier on everybody," she said.

She opted for a double mastectomy, once the genetic results revealed she had a mutant gene putting her at high risk for breast cancer to return. Perry also passed the information along to her family members to help them understand their potential need for genetic testing and early awareness of risks, as she learned more about her family history.

"I didn't realize that I had aunts that had breast cancer. I had multiple people that had different types that were all connected to this gene. And once they did the testing, it was all a puzzle and this was the piece that was missing," she said.

Kelly Gilbert knew some details about her family history.

"My grandma had cancer around my age," she said.

Similar to Perry, the testing offered new insight into Gilbert's course of action.

"My surgeon ordered the genetic testing and when I got that back, that I was BRCA positive, that made so many decisions right there on the table. She was encouraging just a lumpectomy at first, but as soon as I found out I was BRCA positive, I said, oh no, no, no, no, no. Nope. We're going to go for the double mastectomy. Because I don't want a chance of this coming back. it's going to decrease the occrance for me," she said.

Doctors told Gilbert her 3-year-old daughter could also be tested now.

"My doctors encouraged me to wait until she's old enough to understand it herself," she said.

Doctors say the technology is changing so fast, there may be far more details in coming years, especially by the time children today are grown.

The Susan G. Komen Foundation has specific recommendations regarding testing for breast cancer.

Kate Watt, executive director of Susan G. Komen Florida, warns it's important for consumers to understand not all genetic testing is created equal. The information itself can be varied, as can the quality of genetic counseling. Getting an at-home test may be incomplete, particularly if you don't understand the gaps in information.

"Kind of getting results in a box and not knowing what to do with them doesn't give you any more information," Watt said.

Komen recommends an ongoing conversation with your doctor, not accepting results and assuming for a lifetime those results tell the whole story. She suggests a person advocate for themselves and ask lots of questions.

"Should I be retested since 2014? Have my risk factors changed? Have there been additional family members who maybe have been diagnosed? Not just of breast cancer, but of other cancers?"

Another advancement is the change in price.

What used to cost thousands can now be received at a fraction of the price. Laboratories are competing for business, so genetic counselors at doctors' offices have found ways to work with them to make it accessible financially if your doctor deems it necessary.

"Be familiar with what is normal for you and what is abnormal, and if you see any changes, immediately seek medical attention," she said.