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AHRQ on Track to Develop BRCA Testing Clinical Decision-Support Tool

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Originally published Feb. 11.

By Turna Ray

A BRCA testing decision-support tool will soon be introduced by the Agency for Healthcare Research & Quality to help primary care physicians determine which patients should be genetically tested for hereditary breast and ovarian cancer risk mutations.

Since 2008, AHRQ has been working on the project, which aims to develop a computer-based clinical decision support tool integrating women's family history and medical information to generate a risk score for hereditary breast and ovarian cancer. Based upon this score, doctors will have more guidance on which patients to recommend for gene expression profiling. The tool will incorporate the US Preventative Services Task Force's guidelines on BRCA mutations testing for breast and ovarian cancer susceptibility.

AHRQ has reviewed the available published literature, spoken to experts in the field, and developed a working model of the tool. Currently, investigators at the agency are testing the usability of the tool and making modifications, said Gurvaneet Randhawa of AHRQ's Center for Outcomes and Evidence at a recent meeting of the HHS Secretary's Advisory Committee on Genetics, Health, and Society.

"The challenge for a primary care provider is to know which women are at a higher risk for having a BRCA mutation," Randhawa said at the meeting. "It is very rare to have the family history information available to make that assessment."

Concerned that physicians lack sufficient genetics knowledge to incorporate BRCA testing into their practices, several payors have instated mandatory genetic counseling and prior authorization ahead of testing patients on Myriad's BRACAnalysis test, which gauges certain BRCA1 and BRCA2 mutations to assess women's risk of hereditary breast and ovarian cancer [see PGx Reporter 11-04-2009; 02-10-2010].

The USPSTF recommends against routine referral for genetic counseling or routine BRCA testing for women whose family history is not associated with an increased risk BRCA1 and BRCA2 mutations. Additionally, the task force recommends that women whose family history is associated with mutations in BRCA genes be referred for genetic counseling and evaluation for BRCA testing.

AHRQ's decision-support tool will try to take in family history information "in a systematic format, so one can assign a risk score," Randhawa explained. The web-based tool will have an interface for physicians and patients. "Once the patient fills in their family history, a risk assessment score will be generated with some guidance to the clinician about what to do, based on that risk score," he added.

The last phase of this project will be to evaluate this tool in the real-world setting. As such, after AHRQ finishes testing the system, it plans to roll it out in a couple of sites in the primary care setting.

Additionally, Randhawa updated the committee on AHRQ's efforts to develop a uniform checklist for payors and healthcare providers that helps them evaluate the evidence and quality of a genetic test.

Currently there is little published data on the analytical validity of marketed genetic tests, and the agency has been analyzing different evaluation frameworks for such diagnostics. Although one single framework is unlikely to be useful for all stakeholders, the CDC's Evaluation of Genomic Applications in Practice and Prevention group's criteria comes closest, Randhawa said, adding that EGAPP's criteria will need some enhancements.

Going forward, AHRQ will soon release a draft report on evaluation frameworks for genetic tests. "We're trying to come up with a new tool that is a checklist, which right now has 21 items," Randhawa said. "We'll see where that stands after peer review."

AHRQ is also in the process of finalizing its report on a randomized-controlled trial on pharmacogenomically guided warfarin dosing. The two-year study, being conducted by AHRQ and researchers at Marshfield Clinic in Wisconsin, randomized more than 250 patients to dosing warfarin using just clinical factors or with genetic information and clinical data.

Although Randhawa didn't provide any details on the results of the study, he stated that "there is really no conclusion from this project that will say that we should start using [PGx-guided warfarin dosing] right now."

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