This article was updated with additional details from an Invitae-led study, which a breast surgeon group cited in recommending multigene panel hereditary cancer risk testing for all breast cancer patients.
NEW YORK (GenomeWeb) – Invitae will soon start allowing consumers to initiate test orders online, but the company isn't expecting this channel to immediately contribute to revenue growth in a big way.
Earlier this year, during the JP Morgan Healthcare Conference, Invitae announced it would begin allowing consumers to initiate orders online for its suite of tests and subsequently have physicians approve the test orders. This consumer-initiated testing model — or patient-initiated testing, as the firm likes to call it in order to differentiate it from direct-to-consumer testing companies such as 23andMe — is part of its long-term growth strategy, which also includes investments in reproductive testing, including the launch of a noninvasive prenatal screening test.
In 2019, Invitae aims to test more than 500,000 samples and generate more than $220 million in revenue. The projected growth in test volumes factors in increasing contributions from reproductive testing and modest growth from consumer-initiated testing.
Invitae CFO Shelly Guyer acknowledged that because patient-initiated testing is a new model for Invitae, there will be costs associated with getting that channel going. For example, the company has been consistently reducing its cost of goods sold per sample, most recently down to $243 in Q4 2018, but she noted new product introductions could push COGS up.
"We will continue to invest in selling and marketing to not only generate volume growth but also to launch patient-initiated testing in the second quarter of 2019," said Guyer during a conference call yesterday to discuss the company's 2018 earnings. She highlighted that Invitae has built a sales force of around 140 reps to support its expanding business.
Invitae, which has traditionally marketed its tests to doctors and hospitals, is embracing a consumer-facing marketing model after recognizing that current guidelines and insurance coverage policies are hindering people from getting genetic testing when they would benefit from it. For example, more than 1.7 million people are diagnosed with cancer in the US each year, and Invitae Chief Medical Officer Robert Nussbaum estimated that only a fraction of them are getting hereditary cancer risk information that might help to guide their care.
"We consistently hear from genetic counselors, clinicians, and patients about the roadblocks they face when seeking clinical-grade genetic testing, including high cost, insurance barriers, provider scarcity, and restrictive, outdated testing guidelines," Nussbaum said during the earnings call. "Too often, these barriers prevent patients from receiving the clinical testing they need."
The company has been active in encouraging insurers to change their policies and gathering evidence to convince them to do so. For example, Nussbaum was the senior author on a study involving approximately 1,000 previously or newly diagnosed breast cancer patients, half of whom met the National Comprehensive Cancer Network's criteria for hereditary cancer risk testing, while the other half did not. Among those who met the NCCN guidelines, more than 9 percent had a pathogenic or likely pathogenic variant when tested on an 80-gene hereditary cancer risk panel, and of those who did not fall under the guidelines, around 8 percent had a positive result.
When researchers restricted their analysis to the 11 genes the NCCN recommends testing and management recommendations for, the proportion of out-of-guideline patients with risk variants were lower (6 percent of patients who met testing guidlines and 4 percent who didn't had positive results). When considering only those with pathogenic or likely pathogenic variants in BRCA1/2, under 3 percent met NCCN guidelines, and less than 1 percent didn't (though the authors noted that the proportion of BRCA1/2-positive patients may be lower because previously tested patients were excluded from the study registry).
"Our results suggest that approximately 45 percent of patients with breast cancer with clinically actionable germ line variants are being missed when testing is restricted to patients meeting current NCCN guidelines and when testing strategies are limited to panels containing only BRCA1/2 or to less comprehensive panels," the authors led by Nussbaum wrote. "We propose that testing criteria be expanded to include all patients with breast cancer."
This study was cited recently in an updated statement from the American Society of Breast Surgeons, which now broadly supports multigene panel testing for breast cancer patients to assess their hereditary risk for cancer. The group also recommended retesting patients with multigene panels if they received more limited testing many years ago, and outlined the ways in which unaffected individuals with a family history of cancer could be tested and counseled.
However, influential bodies, such as the US Preventive Services Task Force, still support a more limited approach. In the latest draft recommendations for risk assessments for BRCA-related cancers, the USPSTF still advised against BRCA1/2 mutation testing for people without a family history of such cancers, even though multiple studies have shown that around 50 percent of mutation carriers don't have relatives with cancer they can point to. The public can provide comments to USPSTF's draft recommendations until March 18.
Even more restrictive was the Centers for Medicare & Medicaid Services' indication in January that it would limit coverage for germline testing on NGS panels to advanced cancer patients. During the earnings call, Guyer noted that Invitae had joined other groups in telling CMS that "this is a mistake," since identifying hereditary cancer risk mutations through germline NGS testing can help early-stage cancer patients avoid recurrence and metastasis.
Several years before embracing consumer-initiated testing, Invitae had a proactive genetic screening program for individuals who lacked the personal or family history of certain diseases to warrant diagnostic risk testing. That effort revealed that one in six otherwise healthy individuals who received testing were at risk for a genetic condition that they didn't previously know about but could take action to prevent or mitigate.
"As we continue to develop and publish data in support of broadening who should be offered genetic testing for hereditary cancer syndromes, we see the number of oncology patients that can benefit from genetic testing continue to grow," said Nussbaum.
Even outside of oncology, there are barriers to accessing genetic testing. "I personally find it tragic and incomprehensible that more often than not the first time a couple learns that their risk of having a baby with a severe life-limiting disease is when their child is born with the condition," said Nussbaum.
With the consumer-initiated channel — in which people will pay a low out-of-pocket rate for testing — Invitae is hoping to open up access to those who haven't been able to obtain genetic testing due to insurance barriers or even physician reluctance. However, the company is careful to distance itself from direct-to-consumer genetic testing, where individuals do not have any physician or genetic counselor involved in the ordering or result reporting process.
"We really don't believe our patient-initiated testing channel really bears any relationship with direct-to-consumer [testing]. It's a completely different species," Nussbaum said, noting that a physician will still finalize test orders and patients will have other types of professional clinical support. Other companies, such as Color, also employ a consumer- or patient-initiated testing model and use third-party physician networks to approve orders. However, the use of third-party network doctors has been criticized as just another sales arm for genetic testing companies, because these physicians don't have a personal relationship with patients in the way their own doctors do.
The US Food and Drug Administration has so far not cracked down on the use of third-party physician networks, perhaps because such action would have to come from the state level. However, in a recent interview, Timothy Stenzel, director of FDA's Office of In Vitro Diagnostics and Radiological Health, said the agency is keeping an eye on all the different ways genetic testing companies are offering their services to consumers, and noted that "at this point, the absence of a patient-physician relationship adds additional risk."
Meanwhile, although the FDA has authorized several of 23andMe's genetic health risk tests for DTC sale, they are not intended to be used to make medical decisions and need to be confirmed by a clinical-grade test. This is where Invitae is hoping people will find value in its patient-initiated testing channel.
"We've had a number of patients that have had samples sent to us for confirmation of what they thought they found in a direct-to-consumer test, and it turns out that it was incorrect," Nussbaum said, noting that more than half the disease-related variants from DTC testing that Invitae reanalyzes turn out to be errors.
Invitae CEO Sean George noted that patient-initiated testing could be incorporated as part of traditional testing streams at hospitals, by pharma partners, or in settings where testing is covered by insurers. When a patient initiates testing online but then qualifies for coverage, Invitae would let patients know, he said. Â
However, because the aim in launching the consumer- or patient-initiated channel is to open up genetic testing access to those that currently don't meet guidelines, Invitae is expecting revenues to largely come from out-of-pocket spending. The firm sells its panel tests for $250 when patients without insurance coverage have to pay out of pocket.
One of Invitae's main competitors, Myriad Genetics, hasn't ventured into consumer-initiated testing but is certainly thinking about ways to foster brand loyalty among patients. Myriad recently launched an app to provide patients with educational tools, test cost transparency, and counseling resources.
For its part, Invitae is hoping that its pricing strategy, coupled now with a consumer-initiated channel, will push it above its competitors, raise its profile among doctors and patients alike, and bring it closer to its goal of testing 1 million samples per year by 2020. "This marks the end of the era of artificially high prices and restrictive policies for genetic testing that ultimately limit the number of people who benefit, when the technology should be available to benefit so many more," Nussbaum said.