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Counsyl Free Cancer Screening Finds Many At-Risk Women Who Would Not Have Been Tested


NEW YORK (GenomeWeb) – In a preliminary analysis of a two-month promotion where it offered free hereditary cancer screening, Counsyl has found that nearly half of women who have tested positive did not meet criteria for screening.

The company told GenomeWeb that as of mid-November, more than 1,500 women had taken advantage of the initiative, called Get Ahead of Cancer, where it offered its 22-gene hereditary cancer panel free of charge during October and November to women in the San Francisco Bay Area.   

According to Kaylene Ready, director of inherited cancer screening at Counsyl, about half of the women who tested positive would not have met the National Comprehensive Cancer Network's criteria for testing.

At the time of its interview with GenomeWeb, Counsyl had not finished analyzing all the results of the women's tests and declined to give preliminary estimates on the percentage of women who had a positive result and the most common pathogenic variants.

Counsyl's next-generation sequencing-based panel includes the BRCA1 and BRCA2 genes, the Lynch syndrome genes, and other genes that are frequently mutated in inherited forms of breast, ovarian, and colon cancer. Ready noted that the majority of patients opted for the full panel, but Counsyl analyzed only the BRCA1 and BRCA2 genes for some who did not.

Women in the Bay Area who were interested in taking advantage of the free cancer screening program still had to have testing ordered through a physician. Counsyl listed physicians and health providers on its website that had agreed to participate. If a patient's physician was not listed, she could either make an appointment with one of the physicians listed or ask her own physician to participate.

The patient discussed reasons for wanting the test, as well as family history, with her physician — although Counsyl did not require family history to qualify for testing — and could then submit a blood or saliva sample also at that first appointment.

Test results were then returned online to both the physician and patient in two weeks. Counsyl offered pre-test support via online educational videos and post-test genetic counseling. Ready said that patients could discuss results with a genetic counselor over the phone and typically could make an appointment within 48 hours of receiving their results online.

Ready said that the firm decided to launch the program in part to raise awareness about genetic testing and its declining costs. The company even marketed its campaign to consumers, with advertisements running on Pandora, for instance. In addition, she said, there is also increasing evidence that the current guidelines for who should have genetic testing for inherited cancer don't go far enough and miss women.

For instance, University of Washington breast cancer researcher Mary-Claire King published a study last year analyzing 8,000 healthy Ashkenazi men for three cancer-associated BRCA mutations. The study found that around half of the men who tested positive did not have a family history of the disease. King is an advocate for population screening of BRCA1 and BRCA2 mutations.

In her own experience, Ready said that prior to joining Counsyl, she was a genetic counselor at MD Anderson Cancer Center where she saw a patient who was concerned about her family history of cancer. The family history "turned out to be not that striking" and since the patient didn't meet criteria for genetic testing, her insurance would not cover it. At the time, the patient decided not to get tested, but years later she developed breast cancer, which made her eligible for testing. It turned out the woman did in fact have a BRCA2 mutation, Ready said. "Who knows if testing would have made a difference," Ready said, "but that was a difficult phone call to make."

Patient examples like that, the flood of hereditary cancer screening tests now on the market, and the sharp decline in prices from around $4,000 when Myriad Genetics had a monopoly on the hereditary breast cancer screening market to under $500 for most NGS-based tests now, have led to a number of promotions similar to Counsyl's.

The HudsonAlpha Institute for Biotechnology in October began offering free testing for 30-year-old women in the Huntsville, Alabama area. The institute is offering a 19-gene hereditary cancer panel free of charge through Kailos Genetics, for one year.

In addition, 18 organizations have said they will subsidize half the cost of Color Genomics' 19-gene hereditary cancer panel for their employees, which Color already offers for $250 to patients who pay out of pocket.

Research groups are also studying the impact of screening healthy individuals for inherited diseases. A group at the University of North Carolina is analyzing 1,000 healthy individuals for mutations in a panel of 17 genes that correspond with 11 disorders, including the BRCA genes and Lynch syndrome genes. The goal is to gain a better understanding of the penetrance of disease-causing mutations in the general population as well as to figure out best practices for returning results.

Aimee Eyvazzadeh, one of the doctors participating in Counsyl's Get Ahead of Cancer initiative, told GenomeWeb that prior to the promotion, she ordered Counsyl's hereditary cancer panel for about two women each month.

As of the final week of the promotion, Eyvazzadeh said she had submitted 174 samples for testing and that Counsyl had processed and analyzed 130 of them.

Of those, four women were found to be carriers of six pathogenic variants. Interestingly, none had mutations in the BRCA genes.

A mother/daughter pair each had two mutations in the MUTYH gene, which confers risk of colon cancer. One woman had a mutation in a Lynch syndrome gene, PMS2, and another had a variant in SDHA, which is associated with hereditary paraganglioma-pheochromocytoma, a condition characterized typically by noncancerous tumors in the nervous system but that can sometimes become cancerous and metastasize.

Eyvazzadeh said that prior to Counsyl's promotion, her patients' insurance companies would rarely cover the test and that they primarily paid the $349 out-of-pocket rate for it.

As prices drop and evidence builds that broader screening could have benefits, Eyvazzadeh said she hopes that medical organizations will recommend broader testing and that insurance companies will pay for the tests. "We know that if you're positive for one of these genes, it's a value to find out," she said. "One reason why this testing hasn't been offered across the board is because the cost was so high, but now that labs have brought down the costs, it could be offered to everyone."

Of course such cost-benefit analyses will have to first be done. Other concerns about population screening include the numbers of false positives that may be returned, unknowns about the penetrance of some mutations that could lead to unnecessary medical treatments, and the added genetic counseling burden.

"One objection is that we don't really understand how these mutations behave for someone who doesn't have a typical family history," Counsyl's Ready said, adding that she thinks that question will be answered in the next few years, particularly as research studies and promotions like Counysl's and HudsonAlpha's accrue data on the prevalence of such mutations in women who would not have been considered candidates for genetic testing.

Ready said that Counsyl has not yet decided whether it would publish data from the results of its promotion. "That wasn't the original intent," but is something the firm may speak with its medical affairs advisors about, she said.

With regards to the genetic counseling portion, Ready said that during the two-month promotion, she did not notice any additional challenges with counseling women who did not fit the typical profile for women receiving genetic testing. However, she said she was surprised by the numbers of women who did not realize their family history put them at an increased risk. For instance, Ready said she spoke with a number of women that had Ashkenazi Jewish ancestry who had not been tested and did not realize that they around a 1 in 40 chance of having a BRCA mutation.