Health

Women tested for breast-cancer mutations often miss out on key counselling

Most U.S. women undergoing BRCA genetic testing do not receive genetic counselling that is widely recommended.

As more women likely to be tested, benefits & feasibility of traditional counselling unclear, Toronto MD says

Although counselling is widely recommended before gene testing, most U.S. women who were sent by doctors to be tested for BRCA1 and BRCA2, two genes that increase the risk of breast and ovarian cancer, never met with a counsellor beforehand.

The main reason, researchers found, is that the women's doctors didn't recommend seeing a genetic counsellor.

"There are very clear and consistent guidelines that people should receive genetic counselling before genetic testing for cancer susceptibility," said Dr. Rebecca Sutphen, the study's senior author from the University of South Florida Morsani College of Medicine in Tampa.

Women who received genetic counselling were more knowledgeable about BRCA and reported better understanding and satisfaction compared with women who didn't receive counselling. (Amel Emric/Associated Press)

Although women who received counselling before gene testing were more knowledgeable about the test and the meaning of its results, as well as more satisfied overall, some experts say traditional genetic counselling may no longer be the only or best option — especially as gene tests become cheaper and more accessible.

BRCA 1 and BRCA 2 gene mutations are linked to about 5 to 10 per cent of all breast cancers, and about 15 per cent of ovarian cancers, according to the U.S. National Cancer Institute (NCI).

Genetic counsellors typically explain the test's appropriateness, medical implications, psychological risks and the possibility the results won't be informative. They may also discuss the risk of passing on the gene mutation to children.

The new study involved Aetna-insured women whose doctors ordered BRCA testing in 2012. Several Aetna employees were on the research team.

The insurer sent questionnaires to 11,159 women, but just 35 per cent returned them. The final analysis focused on 3,628 women. 

I think as we imagine a world in which genomics is a daily practice of medicine, traditional models of genetic counselling are probably not feasible.-  Dr. Robert Green

Only about 37 per cent said they'd received counselling from a trained genetics professional in person or on the phone before the gene test, the researchers report in JAMA Oncology.

Sutphen told Reuters Health that doesn't mean the vast majority of women didn't receive some level of counselling, but it wasn't from someone trained to counsel people about genetics.

Women most commonly said they didn't see a genetic counsellor because their doctors didn't recommend the service.

Those who did receive counselling were more knowledgeable about BRCA and reported better understanding and satisfaction, compared to women who didn't receive counselling.

The study shows patients and providers that there are benefits to counselling by trained genetic counsellors, Sutphen said.

New models of counselling 

"Many progressive providers like Aetna provide those services by telephone," she said. "And, under the Affordable Care Act, genetic counselling is a preventive service that is to be covered without out of pocket cost to the patient."

In an editorial, Dr. Steven Narod of the Women's College Research Institute in Toronto writes that more women will likely be tested for BRCA mutations with the cost of genetic testing now ranging from $200 US to $300 US. Whether traditional one-on-one genetic counselling would benefit all of them, or is even feasible, is unclear, he writes.

In the current study, one woman with genetic mutations was identified for every 20 women counseled, but if testing becomes more common, "we cannot expect to counsel 100 women for the sake of one positive test result, so other forms of knowledge transfer (e.g., print or electronic media) need to be explored," Narod said.

Those sentiments were echoed by Robert Green, a medical geneticist and physician-scientist at Brigham and Women's Hospital in Boston.

Green, who was not involved in the new study, said his research among people being tested for gene mutations tied to Alzheimer's disease found no greater distress or depression in those receiving a condensed genetic counselling session that included mailed brochures, compared to those who met with counsellors.

"I think as we imagine a world in which genomics is a daily practice of medicine, traditional models of genetic counselling are probably not feasible," he said. "We need to understand where genetic counselling would be maintained and where new models of counselling and testing should be incorporated."

Comments

To encourage thoughtful and respectful conversations, first and last names will appear with each submission to CBC/Radio-Canada's online communities (except in children and youth-oriented communities). Pseudonyms will no longer be permitted.

By submitting a comment, you accept that CBC has the right to reproduce and publish that comment in whole or in part, in any manner CBC chooses. Please note that CBC does not endorse the opinions expressed in comments. Comments on this story are moderated according to our Submission Guidelines. Comments are welcome while open. We reserve the right to close comments at any time.