Specialty cancer diagnostics company Precipio Inc, New Haven, Conn, has launched HemeScreen, a novel test for mutations in hematologic cancers. Precipio is the first company to offer a low-cost, rapid molecular screening panel for hematologic mutations. The proprietary test screens for four key genes critical to determining a patient’s treatment plan. An estimated 150,000 tests for these four genes are performed every year in the United States. HemeScreen will be offered in two forms:
- Testing performed using a laboratory-developed test (LDT) in Precipio’s laboratory in New Haven, Conn, which is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA).
- A set of research use only reagents will be offered to other reference labs, enabling them to perform the test in their CLIA-certified laboratories.
Screening tools allow laboratories to quickly and inexpensively rule out patient samples found to be negative for mutations in critical cancer genes, thereby eliminating the need to perform more complex, costly genetic testing with longer turnaround times for those patients.
The HemeScreen assay delivers results within hours (versus the average industry turnaround time of 7 to 10 days), at a fraction of the cost of such currently used genotyping technologies as DNA sequencing and Taqman single-nucleotide polymorphism (SNP) genotyping.
The assay tests for mutations in the CALR, JAK2, JAK2 exon 12, and MPL genes. These genes are critically important to developing the clinical roadmap for the patient; however, the majority of patients do not present any of these mutations, with less than 20% of patient samples returning a positive result.1–3 For these markers, if the result is negative, no additional testing is required and results are reported immediately. If the assay identifies a mutation, the lab reverts to the original process, with additional testing via next-generation sequencing (NGS) or Taqman SNP genotyping, in order to identify the specific mutation within that gene.
One of the key benefits of this test is its reduction in costs as a result of multiplexing. In a CLIA laboratory, the current cost of test reagents for all four genes is approximately $300, and these tests are typically reimbursed at around $600. By contrast, performing the HemeScreen assay will cost around $100—less than 33% of the combined cost of testing for the four genes separately.
Furthermore, as the genes are mutually exclusive, they are typically tested in a reflex manner (for example, if the first gene tested is positive, the testing stops; if it is negative, testing continues to the next gene, and so on). Such a test protocol is both costly and time consuming, with laboratories typically taking 7 to 10 days to report results for these tests. HemeScreen will enable reporting of negative results (80% of cases) within approximately 4 to 6 hours, making possible a same-day total turnaround time.
The genes screened by HemeScreen are relevant to the patient’s diagnostic assessment and they may affect treatment for patients with myeloproliferative and myelodysplastic (MDS) malignancies or cancers. In the United States there are approximately 300,000 patients with these diseases, and about 40,000 new patients are diagnosed each year.4 Guidelines issued by the National Comprehensive Cancer Network recommend that every patient diagnosed with one of these cancers be tested for the genes offered in the HemeScreen panel. Identifying a positive mutation means that the individual patient can be accurately diagnosed with a specific neoplasm and placed on the appropriate therapy, some of which are targeted. Patients with a JAK2 mutation, for example, are placed on a JAK2 inhibitor such as Jakafi—a therapy that can be critical to the patient’s successful battle with their disease.
Currently, few laboratories offer these gene tests because they are costly and require substantial volume in order to be performed cost-effectively. Even large laboratories typically hold specimens that have been received and batch them in large quantities, resulting in patients who are expecting to receive their final diagnoses typically waiting 7 to 10 additional days for the results of their tests.
Given that 80% of the initial gene test results are typically negative, a cost-effective screening panel that returns a positive/negative answer within a single day can provide a substantial clinical improvement and deliver a quick answer to the vast majority of patients.
The HemeScreen test utilizes the same high resolution melt (HRM) technology applied to ICE COLD-PCR (ICP), the company’s mutant enrichment technology for liquid biopsy.
Precipio estimates that the annual United States market opportunity for this area of testing is approximately $100 million. The HemeScreen assay can enable cost savings of approximately $200 per sample, or as much as $30 million of cost savings per year for the US clinical testing sector, while also providing a significantly faster service.
“Running an expensive and time-consuming test for genes that occur in less than 20% of patients seemed to be a very inefficient process. With our expertise in hematologic malignancies, we decided to develop a hematologic screening application, creating a simpler and more cost-effective approach, which would reduce the cost and turnaround time for most of those tests,” says Ilan Danieli, CEO of Precipio. “The HemeScreen assay further substantiates us as a market leader in the heme testing field by creating a more efficient testing process. We plan to make the HemeScreen assay commercially available to all labs interested in reducing costs and increasing profitability, while improving the quality of care by providing results in hours vs. days.”
For more information, visit Precipio.
1. Hu GY, Deng MY, Zhang GS, Luo YY, Zhy JF. The frequency of JAK2 V617F mutation, expression level of phosphorylated JAK/STATs proteins and their clinical significance in myeloproliferative disorders patients [article in Chinese]. Zhonghua Xue Ye Xue Za Zhi. 2009;30(6):394–398. PMID 19951533.
2. Duke VM, Gurunlian N, Yogashangari B, et al. Frequency of JAK2 exon 12 mutations in JAK2 exon 14 v617f-negative patients: high frequency in ET patients. Blood. 2007;110(11):2539.
3. Tefferi A. JAK2 and MPL mutation screening: what are the indications and how to interpret the results [online]. ASCO Post. February 15, 2012. Available at: www.ascopost.com/issues/february-15-2012/jak2-and-mpl-mutation-screening-what-are-the-indications-and-how-to-interpret-the-results. Accessed November 13, 2018.
4. Hematologic Malignancies [online]. Cancer Network. Available at: www.cancernetwork.com/hematologic-malignancies. Accessed November 13, 2018.