The US Centers for Disease Control and Prevention plans to spend $2.7 million to support state and local governments in promoting the adoption of evidence-based recommendations for genomic tests and related breast cancer interventions.
The three-year program, created in response to the 2009 Affordable Care Act's call to address breast cancer in young women, will award three grants of between $200,000 and $300,000 per year to accepted applicants: either state or local governments or Indian/Native American tribal governments.
The purpose of the grants is to help interested entities promote breast cancer genomics best practices, educate physicians and the public about breast cancer genomic testing, and to assess the efficacy of testing guidelines and the impact of testing for hereditary risk markers like BRCA 1/ 2 on public health, according to Katrina Trivers, an epidemiologist with the CDC's division of Cancer Prevention and Control.
"There are various guidelines out there on who should be getting genetic counseling and testing … and they differ slightly. But they all basically say the same thing, which is that women at high risk for breast cancer … should be receiving these services," Trivers told PGx Reporter.
"The disconnect," she said, "is really that it's not happening at the level we would want to see. This opportunity is meant to increase states' capabilities of helping promote these necessary services."
Grant recipients are not to use funds for research or clinical care, according to the CDC's funding announcement. Applicants are expected to propose schemes for enhancing "activities related to promotion of breast cancer genomics," such as increasing counseling and testing for BRCA 1/ 2, increasing insurance coverage of related clinical interventions for "appropriate" women, and building programs of education for both the public and healthcare providers on the importance of family history risk assessment in choosing and planning BRCA testing.
"We really feel like states are in the best position to do some of this work, because it's at a small enough level that the states can really have an impact in terms of building the infrastructure and partnerships that would be needed to get this stuff done," said Trivers.
Another reason CDC is encouraging states to come up with their own programs for implementing genetic testing is because insurers' coverage policies can differ from state to state. "States vary so widely in terms of insurance mandates and laws," Trivers said. "What's going to work to increase coverage in one state is not necessarily going to work in another state just because of the variability."
According to Juan Rodriguez, also a CDC epidemiologist, states also can provide a good way to work through public health issues on a population level that might later inform broader public health efforts.
"We don't want to jump in on a national level until we know what some of the barriers we might run into are, and the states really provide a great haven to test these different programs to see what works and what doesn't before they get implemented on any larger scale," he said.
In its funding announcement, the CDC breaks down the types of projects recipients may propose into three groups: policy programs, education programs, and surveillance, stressing that the goal of the funding is the adoption and examination of "evidence-based" recommendations, specifically those outlined by the US Preventive Services Task Force. Applicants are required to include policy intervention in their plans, as well as either education or surveillance.
According to the announcement, acceptable programs in policy intervention must be limited to "Promoting increased use of the clinical practices recommended by the USPSTF and NCCN on the use of BRCA 1 & 2 testing, including the collection and evaluation of family health history to determine eligibility for counseling, counseling prior to testing, and counseling prior to the use of medical interventions based on test results."
Muin Khoury, director of the CDC's Office of Public Health Genomics, explained to PGx Reporter this week that current guidelines like those from the USPSTF tend to "discourage the use of testing in the whole population but recommend [genomic tests] in high-risk groups."
But Trivers noted that encouraging the adoption of tests like Myriad Genetics' BRACAanalysis in a way that "maximizes health benefits and minimizes harm to individuals and populations," as required in the funding announcement, is difficult.
Myriad has come under criticism for encouraging doctors to counsel patients before testing for their risk of hereditary breast cancer instead of referring them to outside genetics experts. The company has argued that this practice accommodates the shortage of cancer genetics professionals, especially in lower resource areas (PGx Reporter, 02/10/2010).
At the same time, evidence suggests that many primary care doctors do not have the appropriate knowledge to effectively screen and counsel potential subjects.
"That is a gap we know is there — that physicians are often not particularly well suited to do some of this work," Trivers said.
Researchers from the CDC in January published a study in the American Journal of Preventive Medicine assessing the level of awareness and utilization of BRCA testing and the USPSTF recommendations among primary care physicians. The study, which surveyed 1,500 primary care physicians in 2009, revealed that only 19 percent of physicians correctly identified seven different clinical scenarios as falling into increased-risk or low-risk situations consistent with USPSTF guidelines. Among ordering physicians, 45 percent chose at least one low-risk scenario as an indication for BRCA testing.
"A substantial majority of primary care physicians are aware of BRCA testing and many report having ordered at least one test within the past year," the researchers concluded. "A minority, however, appear to consistently recognize the family history patterns identified by the USPSTF as appropriate indications for BRCA evaluation." Especially in light of the fact that Myriad advertises BRACAnalysis directly to consumers, the authors recommended the need to ramp up physician education about existing recommendations around BRCA testing.
The USPSTF guidelines state that genetic counseling should be conducted by "suitably trained healthcare providers." However, Trivers pointed out that the CDC's grant program is intentionally vague on the question of who should do BRCA counseling — a doctor or a certified genetic counselor. Rodriguez and Khoury said that the CDC doesn't expect states to necessarily fall one way or another on this issue. "The CDC isn't predictive in any way of who should do the counseling," said Khoury. "The hope is that this grant program will enhance that knowledge base."
"States can propose any variety of activities to deal with those issues," Rodriguez added.
"It could be the state putting on educational series, or it could be getting a better collaboration between genetic services in their state and primary care physicians," said Trivers. "And it could also be education of the public about the importance of family history."
"We kind of stay out of those kind of things," she said. "We really leave that largely up to the state… to decide how best they want to move forward. We suggest guidelines that are already there that are evidence based and grounded in really good science."
Trivers said the CDC considers the USPSTF's guidelines on BRCA testing to be the gold standard, though she acknowledged that "there has been criticism about whether or not it goes far enough, and whether it is truly the gold standard approach.
All guidelines issued by "major organizations … have their pluses and minuses, but the differences are small," Trivers said. "To me it's kind of a pot-ay-to/pot-ah-to kind of thing… It would be up to the states to decide which one they thought was best and most useful to them and their populations."
In addition to promotion and education, grant recipients are encouraged to incorporate surveillance into their programs as well, to try to measure everything from the number of women who are tested, the number who test positive for hereditary risk factors like BRCA, to the number who go on to be treated.
"That’s something we actually don't have a good handle on," Trivers said. "We don't have good population-based estimates on a state or a national level … on how many women would actually be eligible for these services, how many women really are high risk, and who would be good candidates."
Post-testing surveillance is also lacking, she said. "How many women are going on for follow-up procedures and how does that result by mutation status? Are there a lot of women who are testing negative who are going on to request these things? Are there a lot of positive women who are going on to not be treated? … What does that look like? We don't have a good handle on that either."
Moving forward, Trivers said that the CDC will play a support role to grant recipients, as they evaluate the success of the implemented programs. "We are certainly very involved in… monitoring the results," she said. Having an evaluation component is always really important to any public health program, so making sure they're evaluating the program appropriately … that's really what we do."
According to Khoury, encouraging evidence-based implementation of BRCA testing is just the beginning of the CDC's genomics efforts in state-based public health programs. "There will be many more, and it's going to be a challenge," he said.
The application deadline for the funding opportunity is July 25.
Khoury said that whether states publish any data collected as part of the surveillance aspect of these grant programs is up to them, though he said he expected some states would.
Have topics you'd like to see covered in Pharmacogenomics Reporter? Contact the editor at mashford [at] genomeweb [.] com.