With BRCA genetic testing on rise, insurers balk

Researchers who study hereditary breast and ovarian cancer call it "the Angelina Jolie Effect."

They reported a sustained global surge in requests for BRCA genetic testing after the actress wrote about her preventive mastectomy two years ago. Last month, she gave another boost to awareness when she wrote about her recent surgery to remove her ovaries.

But raising awareness hasn't necessarily lowered barriers, BRCA experts say. People seeking to identify and manage their inherited cancer risk often confront conflicting, confusing medical guidelines, test options, and insurance coverage.

Maia Magder, for example, could not persuade her health plan to cover BRCA testing, even though her family tree is riddled with cancer - especially breast cancer, which killed her mother at age 48.

Magder, 40, a speech therapist in Washington, decided to pay out of pocket for a reduced-rate $500 test that checked only for the three mutations most common among Ashkenazi Jews. Thousands of other BRCA mutations have been identified. Her test was negative, yet her doctors recommended a preventive double mastectomy and reconstruction - and her insurer covered it in 2013.

That insurer, the Blue Cross federal employee program, did not respond to a reporter's call for comment.

"The moral of the story is, there are not clear guidelines," Magder said.

Said Robert Cook-Deegan, a Duke University genomics researcher and BRCA expert: "BRCA is a harbinger of what we'll have to go through with the hundreds of other deleterious gene mutations that are being discovered."

Identified two decades ago, BRCA1 and BRCA2 are among the most thoroughly studied genes in the human genome. When mutations wreck either of the genes' normal function as tumor suppressors, the lifetime risk of breast cancer can be as high as 87 percent, while ovarian cancer risk can be up to 50 percent. Jolie had those terrifyingly high odds.

Defective BRCA1 and BRCA2 genes drive about 10 percent of all breast cancers and 15 percent of ovarian cancers; mutations have also been linked to elevated risks of prostate cancer, pancreatic cancer, and melanoma.

FORCE (Facing our Risk of Cancer Empowered), a Tampa. Fla., nonprofit for people with BRCA mutations, estimates 940,000 men and women in the U.S. carry a mutation. A parent of either sex has a 50 percent chance of passing on a mutation to a child.

Only a fraction of carriers have undergone testing.

"Two years ago, before the 'Angelina Effect,' fewer than 10 percent of people who harbor mutations knew it," Cook-Deegan said. "Now, it may be up to 20 percent."

During those two years, the testing landscape changed dramatically. The U.S. Supreme Court ruled in 2013 that human genes cannot be patented, ending Myriad Genetics' lucrative monopoly on BRCA testing, estimated to have generated $2.8 billion.

Myriad's comprehensive $4,040 BRCA1/2 test panel is still preferred by many doctors. The Utah company has the biggest database - which it refuses to publicly share - and, thus, the lowest rate of reporting ambiguous BRCA changes, called "variants of uncertain significance."

"They've had so much experience, so their VUS rate is 2 percent or less," said Catherine Carruthers, director of the breast health program at the Holy Redeemer Health System in Huntingdon Valley.

But at least 14 competitors have capitalized on the Supreme Court ruling and faster gene-sequencing technology to jump into the BRCA market, including national testing giants LabCorp and Quest Diagnostics. This has led to lower prices and new test panels, which can be run with just a cheek swab of DNA.

Invitae of San Francisco, for example, offers comprehensive BRCA analysis, or BRCA plus six or 17 or 29 other genes that are linked to hereditary cancer syndromes. No matter how big the panel of genes, the price is $1,500.

"Our goal is to make genetic testing as affordable and accessible as possible," said Invitae CEO Randy Scott. "We intend to drive down the price even lower than $1,500.

Adding more genes to a panel may seem like a bargain to the layman, and to many doctors, but experts see potential problems. Companies are not required to prove the tests are accurate or have any impact on patient care.

"All these labs that jumped on the bandwagon for BRCA testing don't have to produce any evidence for that," said Diane Robinson, a director at the ECRI Institute, an independent nonprofit in Plymouth Meeting that evaluates medical technology. "Patients should ask questions to understand what genes they're being tested for. One of the problems we see with genetic testing is that clinicians who are not geneticists don't realize what they're ordering."

Patients may not have access to professional genetic counselors.

"Some insurers require genetic counseling [before testing], some don't," said Lisa Schlager, vice president of public policy at FORCE. "Many patients don't get counseling."

Nine professional medical organizations in the U.S. and Europe have issued recommendations for BRCA testing - but they don't concur.

As a result, insurers don't agree. The federal Affordable Care Act requires private insurance plans to cover testing for women with strong family histories who have not had breast or ovarian cancer. In contrast, Medicare, the federal plan for people over 65, will cover BRCA testing only for women with family histories of cancer who have personally had breast or ovarian cancer.

"And Medicare won't pay to test men at all," Schlager said.

Only about half of state Medicaid plans, which serve low-income patients, cover BRCA testing (New Jersey and Pennsylvania do) under varying rules.

A charity called the Cancer Resource Foundation used to offer financial help for poor women seeking testing, but it ran out of money. Now, testing companies are the main source of such assistance.

Testing may simply open the door to bigger obstacles, said Schlager at FORCE. Women with mutations are advised to consider undergoing enhanced cancer screening, taking risk-reducing medication, or having preventive surgeries. The problem is, insurers may balk.

"I'm helping a woman today who can't get a breast MRI, and another who can't get preventive mastectomy," said Schlager, 48, a BRCA1 carrier who has had her breasts and ovaries removed.

Magder recently changed jobs and is now assessing her health plan options. She is considering comprehensive BRCA testing. She and her husband, who have two children, have also discussed whether she should have preventive ovary removal within the next several years. That would throw her - like Jolie - into premature menopause.

"I have a little time to decide, but it's on my mind," she said.

She knows she may have to choose without all the information and resources she needs.

"I feel like the science is evolving and the policy is trying to catch up," she said. "But the craziness takes a huge emotional toll on women."

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