NEW YORK (GenomeWeb) – Pathway Genomics this week launched a next-generation sequencing test for gauging alterations in BRCA1 and BRCA2 genes, called BRCATrue, and a patient assistance program through which it is offering free testing to women in need.
The non-invasive, saliva test, according to Pathway, has a sensitivity of greater than 99.99 percent. It uses NGS to gauge mutations in the coding regions of the genes of interest and confirms the findings by Sanger sequencing. Using quantitative PCR assays, the test gauges large deletions and duplications with BRCA1/2 and confirms the results by array comparative genomic hybridization.
BRCATrue reports one of three results about a detected BRCA alteration in a patient: pathogenic, likely pathogenic, and uncertain pathogenicity (deemed a variant of unknown significance or VUS). Pathway doesn't report likely benign or benign results. A sample test report can be viewed here.
According to Ardy Arianpour, chief strategy officer at Pathway, the company is able to deliver test results within 10 business days and has a VUS rate of less than 5 percent. Pathway's CLIA-certified and CAP-accredited lab will perform the testing.
Simultaneous with the test launch, Pathway also announced the BRCA One for One program, through which the company pledges to perform a free BRCA test for a woman in need for every "qualified" BRCA test conducted. Pathway's internal genetic counselors or patients' doctors will determine whether they are "qualified" for testing according to breast cancer risk screening guidelines. The list price of the test is $1,799.
"Our mission is to ensure that people that are in need of receiving genetic testing regardless of their economic or insurance status can get this test," Arianpour said. Pathway has allocated $10 million toward performing free testing through the One for One program for the next two years. The company will partner with patient groups to identify the women who lack access to testing.
By offering free testing, Pathway is also hoping to extend this resource to underserved populations and improve knowledge about the prevalence and disease associations of BRCA1/2 alterations in the overall population.
"National patient advocacy organizations have access to a lot of women in certain demographic groups who haven’t been able to get access to testing," Arianpour said. "There are women who have contacted those advocacy groups saying, 'I don’t have the money or I don't have insurance to access these tests. How can I get it?'"
With growing competition in the BRCA testing space, diagnostics firms such as Ambry Genetics, InVitae, Quest Diagnostics, LabCorp, and Myriad Genetics are trying to one up each other on the price, turnaround time, accuracy, and depth of coverage of their tests. With the introduction of panel testing, a matter of growing importance is a test's VUS rate – the proportion of results identifying variants with unclear association to disease.
Providing free testing for underserved populations will help Pathway perform more testing and improve the VUS rate for BRCATrue. "A lot of ethnic groups can't get the test," Arianpour said. "We're not only going to be able to get more data for every test that's ordered but at the same time help a human and a family in need." Pathway already performs complementary testing for family members of women who have a VUS result through its familial studies program.
Similarly, Myriad conducts free testing for family members of those with VUS results, and boasts a VUS rate of below 2 percent. The company last year expanded its financial assistance program for underinsured patients, lowering the out-of-pocket costs for all of Myriad's tests to no more than $375. To be eligible, patients must have private insurance, meet their insurers' coverage criteria for testing, and have a household income that does not exceed 200 percent of the Federal financial poverty level.
Unlike Myriad, however, Pathway and most other BRCA testing providers are contributing de-identified test data to ClinGen, an-NIH funded effort to build a public, annotated database of genomic variants using standardized classification methods. The aim of this effort is to lower the VUS rate of variants across the genome for various illnesses.
However, all the companies in the BRCA testing space, whether they are part of ClinGen or not, recognize the need to reduce VUS rates as adoption of NGS-based hereditary cancer testing increases. Studies of multi-gene panels by Myriad, Ambry, InVitae, and others suggest the panels increase the diagnostic yield by about 10 percent over more targeted tests, but these tests also have higher rates of VUS and find markers not included in clinical guidelines.
Memorial Sloan Kettering Cancer Center along with other academic research institutions recently announced the launch of PROMPT, a registry that will store and curate rare gene variants increasingly detected by genetic testing panels. The researchers will gather information on the genes of interest through participating labs, including Ambry and Myriad.