NEW YORK (GenomeWeb) – Having solidified a presence in clinical comprehensive pharmacogenomics testing, Admera Health, a clinical spinoff of GeneWiz, has recently begun building its testing portfolio in the cardiovascular genetics space, and eventually plans to launch liquid biopsy tests for oncology.
Last week, the firm launched the second of two next-gen sequencing panels to measure genetic alterations associated with a variety of cardiovascular disorders. The new test, called AtheroGxOne, is an 84-gene NGS panel focused on genes that are linked to lipid disorders and associated diseases of the blood vessels.
AtheroGxOne joins another assay, CardioGxOne, which Admera launched in late 2015, and which detects genomic variations in 213 genes related to inherited cardiovascular diseases and sudden death.
Admera President and CEO Guanghui Hu told GenomeWeb this week that although cardiovascular genetics was not forefront in the company's commercial plan when it launched its first pharmacogenomics test, PGxOne in 2014, Admera's leaders saw the cardiology space as having strong potential for the development of genomic testing.
"We [saw] the cardiovascular disease space as underappreciated compared to oncology given the high population in this disease category, and its position as a leading cause of death," Hu said. "An opportunity came with a Spanish company – Health In Code – that was focused on cardiovascular genetics for many years [and] had accumulated [what we think is] the largest clinical database in cardiovascular disease genetics … so that's how we got started, by combining our expertise in technology development with their unique database."
The initial result of the partnership was CardioGxOne. Tackling a test for inherited cardiomyopathies or heart rhythm disorders was a relatively lower hanging fruit with more established science, Zeil Rosenberg, Admera's vice president for medical affairs, told GenomeWeb.
Admera is not alone in targeting this clinical area. For example, Ambry Genetics launched a suite of 10 genetic testing panels for inherited cardiomyopathies and arrhythmias in January 2015. Other vendors of tests for inherited risk variants also include cardiovascular disease genes in their panels.
According to Hu, Health In Code's database — which he said includes over 100,000 individuals and approximately 40,000 families and their genetic histories — gives Admera "huge advantages" in the clinical interpretation of cardiovascular genetic results that many of its competitors cannot match.
After launching CardioGxOne, Admera and Health in Code developed AtheroGxOne, which is focused on genetic alterations associated with cholesterol and triglycerides in the context of diseases of the blood vessels, particularly familial hypercholesterolemia.
Rosenberg said that separating the two tests made more sense than creating a single comprehensive cardiology genetics panel, because the two disease areas — diseases of lipids and blood vessels versus inherited heart muscle or rhythm disorders — occupy very separate areas of medical practice, and are associated with very different sets of genetic abnormalities.
Though the clinical utility of genetic testing in lipid disorders like FH is less well established, Rosenberg said that new PCSK9 inhibitor drugs have recently entered the market, opening an opportunity for genetics to identify FH patients who should potentially receive these instead of the more traditional interventions for high cholesterol like diet and lifestyle modification or statins, to which they are much less likely to respond.
In addition to mutations associated with FH, AtheroGxOne also covers genomic variations associated with mixed hyperlipidemia, hypolipidemia, and a disease called mature onset diabetes of the young, or MODY.
According to Rosenberg, being able to identify genetic risk factors for these other lipid disorders can impact physician treatment decisions. In MODY, genetic testing could help identify children who would otherwise be diagnosed with insulin-dependent diabetes who can be taken off insulin and managed with oral medications, avoiding a lifetime of injection therapy.
Hu said that as Admera moves forward commercially in the cardiology space, it has two main marketing strategies. "The cardiovascular genetics market is still in an earlier stage, so we need to do some educational work, similar to a few years ago when the same was true in oncology, whereas now most people understand the utility of oncology genetics testing," he said.
One approach will be working with key opinion leaders, Hu and Rosenberg said, and to that end, Admera is in the process establishing relationships with some major academic institutions and also developing educational materials around the two cardio tests.
The company also believes it can expand its testing through current customers of its pharmacogenomics test, PGxOne, which already has applications in the cardiology space.
"We have already accumulated quite a large user base for PGxOne … so a second strategy is to [enhance those existing relationships by] providing a more comprehensive portfolio for cardiovascular disease patients … including risk assessment, diagnosis, and personalized treatment," Hu said.
On a longer timeline, Admera is also planning to establish a toehold in oncology.
To this end, the company has launched two tests, a comprehensive NGS oncology panel called OncoGxOne, as well as a more focused test, OncoGxSelect, for alterations in only BRAF, KRAS, EGFR, ALK, and ROS1.
As part of a 2014 deal, Admera's oncology tests are being marketed by Rosetta Genomics. But Admera has additional plans in the oncology space, namely to develop liquid biopsy tests for cancer diagnosis and monitoring, and for early detection and screening.
On the diagnostic side, Admera is using an approach the company calls BEST, or blocker enrichment technology, and will most likely develop hotspot assays for individual cancer genes before moving toward a multiplex panel.
For screening, Hu said Admera views ctDNA as being further away from real utility than protein markers, so is focusing on developing technology for protein biomarker-based early cancer detection.
The company aims to launch its first clinical liquid biopsy test in 2017.