Testing without context

Nearly two-thirds of women who get tested for BRCA mutations don’t receive genetic counseling first
Angelina Jolie
The number of women seeking genetic testing has increased since 2011, due in large part to Angelina Jolie's public announcement of her BRCA1 status. A new study has found that many women who get genetic testing are not receiving genetic counseling beforehand. File photo by Murat Kaynak/Anadolu Agency/Getty Images

Despite recommendations, most women who undergo genetic testing to help determine their risk of hereditary breast cancer do not receive counseling by a trained genetic professional beforehand, according to a study published online today in JAMA Oncology.

The study, led by Dr. Rebecca Sutphen of the University of South Florida Morsani College of Medicine, found that only about 37 percent of 3,628 women received genetic counseling from a genetic clinician prior to testing. Those who received the counseling were more than twice as likely to meet current national guidelines on who should be tested and also showed a better understanding of what the test results meant.

Mercy Laurino, a genetic counselor in the Cancer Prevention Clinic at Seattle Cancer Care Alliance, who was not associated with the study, said pre-test counseling is key for both educational and psychosocial reasons.

“Individuals don’t always remember all of their genetics education, so we remind them that there are different types of mutations, and there are certain mutations we’re specifically looking for because they may impact patients’ care,” she said. “One of the outcomes of that session is that patients are more aware of the utility of the genetic tests — what they can or cannot do for them. We provide the time to ensure that they’re able to make an informed decision whether to pursue genetic testing.”

The number of women seeking testing has only increased since the data was collected in 2011, due in part to the so-called Angelina Jolie effect. The actress and filmmaker, who has the BRCA1 gene mutation that puts her at high risk for breast and ovarian cancer and a family history of these cancers, went public in 2013 with her choice to have a preventive double mastectomy. In March, she revealed she’d undergone additional surgery to remove her ovaries and fallopian tubes.

Around 55 to 65 percent of women and men with a harmful BRCA1 mutation and 45 percent of those with a harmful BRCA2 mutation will be diagnosed with breast cancer by age 70, according to the National Cancer Institute. And nearly 40 percent of women with a BRCA1 mutation and 11 to 17 percent of women with a BRCA2 mutation will develop ovarian cancer. These risks vary depending on family history and other factors.

“A positive BRCA test does not mean a leap to surgery,” Jolie cautioned in a New York Times op-ed in March. “You can seek advice, learn about the options and make choices that are right for you.”

Why no genetic counseling beforehand?

The JAMA Oncology study, done in collaboration with the health insurance company Aetna, analyzed data from women whose doctors ordered BRCA testing between December 2011 and December 2012. Aetna covers genetic counseling services.

The most commonly cited reason for not seeking counseling before testing was that the patient’s doctor did not recommend it.  

“I’m not surprised,” said Laurino. “Some of the genetic testing companies are really going directly to the providers in the community, and anyone can order this testing.”

Obstetrician-gynecologists were less likely to recommend genetic counseling than other physicians, something the study authors called “particularly concerning” since OB/GYNs are ordering tests for individuals who don’t meet the criteria for testing at a “high rate.”

Oncologists and internal medicine specialists were the most likely to recommend genetic counseling.

SCCA oncologist Dr. Stacey (Shiovitz) Cohen refers patients to genetic counselors for a number of reasons. Counselors are more up-to-speed on what tests are available, she said. They also know more about the nuts and bolts of genetic testing.

“They’re very familiar with how good the test is, the costs and the turnaround time,” she said, and can also “probe a little deeper, to see if a patient wants to test.”

Laurino agreed.

“There’s an assumption that every individual wants to know,” she said. “Interestingly, not everyone does. One-on-one counseling really provides an opportunity for family members to choose to know and to make sure they’re emotionally prepared to know.”

Who should be tested? Experts disagree

Most breast cancers are not hereditary. The National Cancer Institute estimates no more than 10 percent of all breast cancers are due to inherited genetic mutations such as those in BRCA1 or BRCA2, among others. According to the NCI, about 12 percent of all U.S. women will develop breast cancer and about 1.4 percent will develop ovarian cancer. 

The NCI and other national guidelines call for genetic testing to be performed when the person’s family history suggests “the possible presence of a harmful mutation in BRCA1 or BRCA2,” that is, a history of breast, ovarian, fallopian tube or peritoneal cancers. Some of the factors associated with an increased likelihood of a BRCA1 or BRCA2 mutation include breast cancer diagnosis before age 50, multiple breast cancers, cases of male breast cancer and Ashkenazi Jewish ethnicity.

According to the JAMA Oncology study, women who received pre-test genetic counseling were twice as likely to meet those criteria than those who did not.

But not everyone agrees on those criteria.

Dr. Mary-Claire King, the University of Washington genetic researcher who discovered the chromosome location of the BRCA1 gene and proved the existence of inherited breast cancer, has called for testing all women over the age of 30 for the BRCA mutations as part of routine medical care.

In a related JAMA Oncology editorial Dr. Steven Narod of the Women’s College Research Institute in Toronto voiced the same opinion.

“It is disingenuous to think that we can maintain the status quo of universal 1-on-1 testing to fully realize the technical advances in genetic sequencing and apply these to the practice of personalized medicine,” he wrote. “We should test as widely as possible to find as many carriers as we can.”

In a telephone interview, Narod said that as the price of genetic testing drops — since 2013, genetic tests for BRCA gene mutations have gone from $3,000 to as low as $199 — there’s no need for counselors to weed out those who don’t meet guidelines or criteria.

“My philosophy is test everybody or test widely, depending on the cost of the test, and then focus our attention on getting people with the mutation the best possible treatment,” he said. “We should be counseling people with a positive test.”

Laurino argued that there is still a role for pre-test counseling.

“I’m all for cancer prevention, and I’m all for people wanting to know so they can do early detection and prevention,” she said, “but in a mindful way in which they really do understand that once I have this type of gene mutation, here are all the recommendations for me and my family members.”

What do you think of the need for pre-test genetic counseling? Tell us about it on Facebook.


Mary Engel is a former staff writer at Fred Hutchinson Cancer Center. Previously, she covered medicine and health policy for the Los Angeles Times, where she was part of a team that won a Pulitzer Prize for Public Service. She was also a fellow at the Knight Science Journalism Program at MIT. Follow her on Twitter @Engel140.

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