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With BRCAvantage Launch, Quest Becomes Largest US Lab to Enter BRCA Testing Space

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Originally published Oct. 15.

Quest Diagnostics has launched its own BRCA genetic test less than a week after it asked a court to determine whether its offering infringes patent claims underlying competitor Myriad Genetics' assay.

In launching BRCAvantage, Quest will go up against Myriad, the market leader in the space with its BRACAnalysis test. Both of these tests gauge mutations in BRCA 1 and BRCA 2 genes associated with increased risk of hereditary breast and ovarian cancer.

Myriad's test uses a combination of PCR amplification and Sanger sequencing. Quest, which first announced plans to launch a BRCA test in June this year, uses next-generation sequencing and multiplex ligation dependent probe amplification, a PCR method that allows amplification of multiple targets with a single primer pair, for BRCAvantage.

Quest has list priced BRCAvantage at $2,500. "We also offer three other test services for about $500 each for special subsets of patients, such as those of Ashkenazi Jewish descent, who are at higher risk than the general population," said Wendy Bost, Quest's director of media relations. Comparatively, Myriad's BRACAnalysis is list priced at around $4,000.

A spokesperson for Myriad told PGx Reporter that the lab turnaround time for BRACAnalysis results is between five and 10 days, while Quest has said the turnaround time for its test is around 14 days.

Revenue from BRACAnalysis comprised more than 80 percent of Myriad's total revenues of $613 million in fiscal year 2013. Quest reported revenues of $7.4 billion for 2012. The company hasn't provided a projection of how much revenue it expects BRCAvantage to bring in.

To date, Quest is the largest lab to launch a diagnostic for this indication since the Supreme Court ruling this summer that patent claims on isolated gene sequences were invalid. In a unanimous decision in June, the Supreme Court struck down a number of Myriad's patent claims on isolated BRCA gene sequences, but upheld the firm's claims on synthetic or cDNA.

Based on this two-part decision, many diagnostics companies believed they now had room to compete in the BRCA testing market, which has been dominated by Myriad for nearly two decades. In addition to Myriad and Quest, other players in the BRCA testing space include GeneDx, Ambry Genetics, Ethigen, and Gene by Gene.

Gene by Gene and Ambry were the first companies to launch BRCA tests after the Supreme Court ruling, but they were quickly sued by Myriad, which accused the companies of infringing its still valid patent claims around BRACanalysis. These companies then countersued Myriad alleging antitrust violations (PGx Reporter 7/10/2013; 8/7/2013).

Amid this imbroglio, it appears diagnostic developers eyeing the BRCA testing space are acting preemptively by filing lawsuits that ask their local federal district courts for declaratory judgment as to whether their tests are infringing Myriad's patents. Before Quest took this action, Counsyl filed a similar suit against Myriad, noting its desire to enter the BRCA testing market.

These new entrants to the BRCA testing space are attempting to overtake Myriad's longstanding hold on the market by competing on price. Myriad has argued in court documents that while these other tests may be cheaper, they won't be comparable in terms of accuracy.

"Quest is claiming a 99 percent accuracy rate. Since the BRCA 1/2 genes are 17,000 bases long, this means there is a potential for 170 errors for every BRCA 1 and BRCA 2 test Quest performs," Myriad spokesperson Ron Rogers said. "In comparison, Myriad’s analytical sensitivity is greater than 99.98 percent."

Having performed BRCA testing on approximately 1 million patient samples to date, Myriad has the most extensive database of genotype-phenotype data around BRCA mutations and claims that only about 2 percent of test results yield variants of unknown significance.

However, since none of the labs offering BRCA testing have published their methodology for determining the VUS rates for their tests, market observers have been left with a volley of claims and counterclaims in this regard. In its countersuit against Myriad alleging antitrust violations, Ambry accused Myriad employees of misrepresenting its VUS rate for BRCA testing as being between 10 percent and 30 percent. Ambry maintains its VUS rate is 5 percent, and has further asserted that Myriad's claimed VUS rate for BRACAnalysis cannot be verified since its database is proprietary.

Quest said it expects its VUS rate for BRCAvantage to be "in the low-single digits," but didn't provide PGx Reporter with a specific percentage. Quest states on its webpage dedicated to the BRACAvantage test that VUS occur in about 13 percent of people tested. "We plan to submit ... data and results from our validation study [on VUS] to a peer-reviewed journal and as a presentation at a scientific conference, and look forward to sharing this information assuming acceptance," Bost said.

Myriad also boasts an advantage over potential competitors through its sizeable BRCA testing sales force of 400 reps, existing payor contracts around BRACAnalysis, and physicians' familiarity with the test since around 60,000 doctors have used it. Quest, with 2,100 service centers throughout the US where patients can submit blood samples for testing, is hoping to shift that balance of power in launching BRCAvantage.

A Quest spokesperson couldn't provide an estimate of the company's sales force, but noted that the company had "tremendous scale" serving approximately 30 percent of American adults each year. This gives Quest "an ability to reach at-risk patients who could benefit from BRCA testing on a uniquely large scale," Bost said.

Quest announced it would also provide third-party genetic counseling services and a pre-authorization service to ensure that testing is being given to patients who meet insurers' coverage guidelines.

"We believe this approach is logical as it will leverage [Quest's] relative scale advantages over Myriad from a sales and marketing perspective," analyst Isaac Ro at Goldman Sachs told investors in a note.

Quest employs in-house genetic counselors to help physicians pick the right genetic tests and interpret results, and there is no fee for this service. Doctors prescribing BRCAvantage testing to patients can refer them for third-party counseling, which may be covered by patients' health plans or patients would have to pay for out of pocket. In comparison, Myriad employs 70 genetic counselors.

Ahead of launching BRCAvantage, Quest assessed the market by surveying 1,400 adult women several months after the Supreme Court's ruling on Myriad's BRCA patent claims. The survey revealed that 72 percent of those interviewed hadn't heard of BRCA genetic testing, and of those who knew about it, 17 percent had talked about such testing with a healthcare provider.

Of the approximately 1,400 surveyed women, only 36 had received BRCA testing. Of the majority who had not gotten BRCA testing, 57 percent expressed a willingness to submit de-identified test results for research purposes, while 14 percent said they wouldn't share their information for research. Surveyors didn't ask these women why they didn't want to submit their data for research.

Quest said it would support efforts to build an open-access research database of de-identified BRCA test data. With the goal of creating an open-access resource rivaling Myriad's proprietary repository on BRCA variants, University of California's Robert Nussbaum and several patient groups are urging cancer clinics, labs, and patients to submit de-identified BRCA test data to NIH's ClinVar database (PGx Reporter 6/19/2013).

Myriad has maintained in statements that it plans to defend its patent position around BRACAnalysis and compete with other test providers on accuracy, turnaround time, and customer service. Meanwhile, the company is planning to retire BRACAnalysis and its other hereditary cancer tests in the next two years, and replace them with the next-generation sequencing-based myRisk hereditary cancer panel.

Myriad launched the myRisk panel to 250 early access customers last month (CSN 9/11/2013). The panel, priced at between $4,000 and $4,500, gauges 25 genes associated with heightened risk for eight hereditary cancers, including breast, ovarian, colon, endometrial, pancreatic, prostate, gastric, and skin.

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