This article has been updated to include information on a study tracking BRCA testing utilization being conducted by insurer Aetna.
By Turna Ray
The US Preventative Services Task Force is seeking public comments on its systematic evidence review plan to assess under what conditions genetically testing asymptomatic women for their risk of developing hereditary breast and ovarian cancer has a positive impact on their health.
The USPSTF is in the process of updating its recommendation on BRCA mutation testing to gauge breast and ovarian cancer susceptibility. As part of that larger effort, it is calling for stakeholder input as it gathers evidence to answer specific questions on the risks and benefits of genetically testing asymptomatic women, who have a family history of breast and ovarian cancer but who themselves don't have these diseases.
The USPSTF's most recent recommendations on BRCA testing, issued in 2005, advise doctors against giving their patients routine referrals for genetic counseling or BRCA testing unless their family history suggests they might harbor mutations in tumor suppressor genes BRCA1 and BRCA2. The group recommends that if women have a family history that places them at increased risk for having these gene mutations, then doctors should refer them for genetic counseling and "evaluation for BRCA testing."
According to the National Cancer Institute, among Caucasian women in the US, between 5 percent and 10 percent of breast cancer patients and between 10 percent and 15 percent of ovarian cancer patients have BRCA1 and BRCA2 mutations. The risk of having these mutations is higher in women of Ashkenazi Jewish descent and those of Norwegian, Dutch, and Icelandic ethnicities. There is, however, limited data on how frequent these mutations occur among prevalent ethnic groups in the US, including African Americans, Hispanics, and Asian Americans.
"Although there currently are no standardized referral criteria, women with an increased-risk family history should be considered for genetic counseling to further evaluate their potential risks," the USPSTF notes in its 2005 recommendations. "Computational tools are available to predict the risk for clinically important BRCA mutations (that is, BRCA mutations associated with the presence of breast cancer, ovarian cancer, or both), but these tools have not been verified in the general population."
According to the USPSTF's proposal for comment, the group is seeking to gather evidence on whether BRCA testing reduces the incidence of breast and ovarian cancer, as well keeps women alive longer. Additionally, the USPSTF is seeking to gather data on how accurate physicians' risk assessment methods are for selecting which patients should receive BRCA mutation testing; what the benefits are of genetic counseling patients ahead of testing; and what the adverse effects of testing and counseling are.
USPSTF recommendations are carefully considered by private payors and factored into their coverage determinations for BRCA genetic testing. For example, Aetna in its clinical policy for BRCA testing cites the 2005 USPSTF recommendations to note that clinical models currently employed in medical practice for determining when women should receive genetic testing are based on women who already have cancer, and that the applicability of these models to screen asymptomatic or cancer-free women for BRCA testing is unknown.
"Available evidence suggests that current models for predicting BRCA mutation may tend to overestimate risk when family history is adequate and underestimate risk when family history is limited," Aetna states in the clinical policy. "Researchers have speculated that, in young women with limited family structures (i.e., fewer than two women who survived past age 45 in either parental lineage), the genetic models that are used to predict carrier status would underestimate the prevalence of BRCA mutations."
Most insurers reimburse for BRCA testing, but many payors also have instated prior authorization schemes to make sure that only women who meet their coverage criteria are getting tested. Aetna is surveying de-identified data on 13,000 of its members who have received BRCA testing in the community care setting in an effort to track how physicians are making decisions to administer such testing. The insurer has a hypothesis that "a large amount of BRCA testing that is being performed is not being performed in an evidence-based manner"(PGx Reporter 09/22/2010).
If USPSTF broadens its recommendations to include the asymptomatic population, it would certainly have a positive impact on Myriad Genetics' revenues for the BRACAnalysis test, the only commercially available genetic test that assesses BRCA mutations for hereditary breast and ovarian cancer susceptibility.
The asymptomatic market is an important growth area for Myriad when it comes to growing adoption of BRACAnalysis. The test comprised nearly 83 percent of the company's total revenues in the last reported fiscal quarter, bringing in more than $100 million. Of that, approximately 30 percent is attributable to BRCA testing in asymptomatic women.
A Myriad spokesperson told PGx Reporter that the company plans to submit comments to the USPSTF evidence evaluation proposal for BRCA testing.
"It is good that they’re reconsidering now given the success we’ve had in educating patients and healthcare providers on the importance of understanding BRCA status in patients with a strong family history of breast and ovarian cancer (guidelines, patient/physician adoption, reimbursement etc)," the spokesperson said via e-mail.
Myriad believes that it has penetrated only 10 percent of the asymptomatic population when it comes to BRCA testing. The asymptomatic segment within the women’s health market "is the most impacted by more elective testing," Mark Capone, president of Myriad Genetics Laboratories, said during a second-quarter earnings call with analysts in January.
In an effort to grow BRCA testing adoption in the asymptomatic market, Myriad has added new territories to its commercial efforts and is implementing an interactive media direct-to-physician and direct-to-consumer campaign.
In the second quarter, "same-store sales initiatives in new territories added in fiscal year 2011 and interactive media campaigns generated over $5 million of revenue growth," Capone said during the second-quarter earnings call. "By way of example, our interactive media campaign has led to an over 100 percent increase in our web traffic and a 700 percent increase in our social media followers."
Myriad's marketing efforts in this regard will likely continue absent more specific recommendations from the USPSTF. Guidance from USPSTF "may take years to be formalized," the Myriad spokesperson noted.
Ultimately, if the USPSTF does issue recommendations that support broad screening of asymptomatic patients for BRCA testing, Myriad is hoping that the test will be fully covered under Medicare as a preventative service.
The Affordable Care Act eliminates cost-sharing for Medicare beneficiaries receiving preventative services performed during a "wellness visit," for which doctors create a personalized prevention plan for their patients. Currently, some of the covered preventative services include yearly mammograms for women 40 years and older; HIV screening; colorectal cancer screening using flexible sigmoidoscopy or colonoscopy; and cervical cancer screening by a pap smear and pelvic exam.
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