Genetic testing offers hope to catch some cancers early
Napili retreat allows survivors to share their stories, learn healthy living alternatives
NAPILI — If Eliza Ignacio hadn’t undergone genetic testing, there’s no telling how far the ovarian cancer would have spread before doctors found out.
When tests showed Ignacio had the breast cancer susceptibility gene (BRCA) in 2016, she opted for a total hysterectomy — which revealed that she was already developing ovarian cancer.
“My sister, because of what she went through, it was because of her that we found out all of this, the BRCA and all of that,” Ignacio said Sunday at the Maui Cancer Wellness Retreat. “And it’s because of her that we continue to fight and share with our kids and our grandkids, and my nieces and nephews, that we can prevent all this at an early stage if you do the testing.”
For cancer patients and survivors like Ignacio, genetic testing has become an appealing service, a way to make loved ones aware of the risks and give them the chance to make healthy choices.
“Knowing that ahead of time gives us the opportunity to manage that risk by more intense surveillance and sometimes being able to do preventative things so that the cancer never occurs,” said Dr. S. Dwight Lyons, owner and managing partner of Lyons Care Associates.
Lyons spoke Saturday at the retreat, which was held at the Napili Kai Beach Resort and drew 27 participants, 25 of whom were covered by the Joseph Padua Trust. The retreat allowed survivors to share their stories and learn about healthy living as well as the resources available to cancer patients, including genetic testing.
Since the breast cancer susceptibility gene was discovered in the 1990s, Lyons said, researchers have found “10 to 11 other breast-cancer related genes that confer varying lifetime risks.” Back in the 1990s, costs for genetic testing could start at $5,000. But since the patent for breast cancer gene testing was disallowed in 2013, “more and more companies have gotten into the business, so the cost of testing has dramatically plummeted,” Lyons said.
“In most areas it’s down to around $800 to $1,000, which is still a barrier for some people,” he said.
Lyons’ practice was one of 18 centers around the country chosen to participate in a clinical trial that challenged the guidelines allowing people to get tested for cancer. Patients usually have to meet certain criteria to get tested, such as having three or more family members with breast cancer or being part of a certain ethnic group, Lyons explained. But from April 2017 through January, each research site tested 50 patients regardless of criteria.
“The simple results were that if we tested people without guidelines, we found as many genetic mutations as we did using the old guidelines,” Lyons said. “What that means is that the old guidelines were restrictive and actually avoid testing appropriate people.”
Lyons said he wants to “get the word out to primary care docs” about the importance of testing. Lyons added that Maui County is at an advantage because it was part of the study — testing will be available at lower costs and open to more people. Lyons also plans to have staff and space dedicated to genetic testing, with the possibility of making regular visits to Molokai and Lanai for testing.
“The bottom line is that by removing barriers to testing, we’re finding more diseases, we’re helping more people by finding things that may affect their health in the future, and we’re able to try to do something to avert a cancer diagnosis or prevent it altogether,” Lyons said.
In 2015, Tiare Holm underwent genetic testing for cancer.
“I remember being a nervous wreck,” said Holm, a 40-year-old mother of five from Molokai.
She knew there was a history of cancer in her family, and the tests revealed just how much at risk she was — an 87 percent risk of getting breast cancer and a 63 percent risk of ovarian cancer. Less than two years later, Holm developed triple-negative breast cancer. She endured six months of chemotherapy and breast reconstruction, an exhausting process that will likely leave her with lifetime impacts.
“On the outside I look fine,” said Holm, who is also Ignacio’s niece. “I wear a smile. I have hair now. I almost feel sometimes I like cut my hair, shave my head again, because I feel like I still have that symptoms and sickness inside that people cannot see. . . . People look at you like it’s over now. But it never goes away.”
However, Holm is grateful for services like genetic testing, which she has encouraged many of her family members to undergo. She’s also become passionate about educating fellow cancer patients and extending more cancer services to Molokai, where she said healthy produce is limited and expensive, and many people have to travel off island for specialized treatment.
Ignacio, for example flies from Molokai to Oahu every three months for checkups. Pua Puaoi Dawson, a 62-year-old Hoolehua resident who was diagnosed with stage 4 breast cancer in 2009, goes to Oahu every month for a new round of chemotherapy pills. She said she avoided getting genetic testing because of the cost, and because she figured she already knew the results — her mother, grandmother and great-grandmother all had cancer.
Understanding genes can be crucial to treating cancer. Dr. Bridget Bongaard, an internal medicine physician who works part time at Hale Makua and Kula Hospital, said there are many factors that can turn certain genes on or off. Cigarettes, alcohol, pollutants, pesticides, constant stress and an unhappy life are some of the “promoters that turn on the disease process.”
“Cancer doesn’t just come up overnight,” Bongaard said.
Teaching people what can trigger certain genes can help them avoid diseases that run in the family — especially in concentrated island populations like Hawaii, Bongaard said. She added that “medical testing and having the sophistication” to explain it is still developing.
“It wasn’t as sophisticated and detailed as it is now, and in the future it will be even more because we’re adding onto this knowledge base,” she said. “Chemotherapies can then be driven around (specific cancers). A lot of the chemotherapies now aren’t the old toxic therapies. They’re actually specifically driven towards a particular tumor.”
* Colleen Uechi can be reached at firstname.lastname@example.org.