Selah Genomics, a Greenville, S.C.-based molecular diagnostic and genomics services company, has partnered with Spanish pharmaceutical company Ferrer inCode to commercialize Ferrer inCode's suite of cardiovascular genetic tests in the US.
Selah will first validate Ferrer's next-generation sequencing-based test for sudden cardiac death, SudD inCode, on Illumina's MiSeq system to run out of its CLIA-certified and CAP-accredited laboratory.
Meantime, Selah plans to validate three other Ferrer inCode PCR-based cardiovascular tests — Cardio inCode, Thrombo inCode, and Nutri inCode — in its own lab using PCR, but may eventually combine the tests into one comprehensive panel to run on an NGS system, Selah CEO Michael Bolick told Clinical Sequencing News.
Selah already offers its PrecisionPath targeted cancer test in collaboration with the Greenville Health System's Institute for Translational Oncology Research. All consenting cancer patients at ITOR receive the PrecisionPath test, which runs on Life Technologies' Ion Torrent PGM and uses the Ion AmpliSeq technology.
Currently, Selah receives between 10 and 20 samples per week for PrecisionPath, and it plans to roll the test out nationwide later this year.
Bolick said that the company is also developing hepatitis C and HIV assays for the MiSeq, and that the firm will likely purchase Illumina's MiSeqDx, which recently received clearance from the US Food and Drug Administration.
Selah also collaborates with pharmaceutical companies to develop companion diagnostic tests. Bolick anticipates that the firm will use the MiSeqDx for those tests since they will "ultimately need [pre-market approval]." Having an FDA-cleared platform on which to develop the tests will be helpful in gaining a PMA designation, he said.
Selah also offers exome sequencing services on the Ion Proton for research use only. In addition, it has a Pacific Biosciences RS II and Roche's 454 GS FLX in house. Bolick said that the company is currently using the PacBio machine for discovery work in infectious disease.
Ferrer inCode's SudD inCode test currently assesses 55 genes related to structural heart problems that cause sudden cardiac arrest, Robert Jenkins, who manages Ferrer inCode's UK and Americas groups, told CSN. However, the company is planning to expand the test to 104 genes and also to include genes related to conductive myopathy, sudden infant death, and aneurysms.
While the test sequences the entire genes, only well-known causative variants are reported, Jenkins said. However, the firm has been collecting all the sequenced variants, so it could potentially add content to the test if enough evidence is gathered to validate any of those variants as clinically significant.
Ferrer inCode currently runs SudD inCode on the MiSeq as an LDT, which is how Selah will validate and market the test in the US.
Jenkins said that for now, Ferrer plans to keep the Cardio, Nutri, and Thrombo inCode tests PCR-based. Cardio inCode looks at around 125 variants involved in genetic risk for cardiac disease. When it is used with traditional markers such as lipid profiling, an individual's smoking and drinking habits, and body mass index, Jenkins said the genetic test helps to reclassify around 20 percent to 25 percent of individuals deemed in the intermediate risk category as either high or low risk.
Thrombo inCode is an approximately 20-variant thrombosis test for individuals that have had a thrombotic event or who have had a history of unsuccessful pregnancies. Often, the cause of thrombosis can go unexplained via testing from serological workups, Jenkins said.
Nutri inCode is a nutrigenomics test that looks at around 90 SNPs. In combination with lifestyle factors, it helps individuals develop a tailored genetics-based plan to reduce obesity, Jenkins said.
Bolick said that while Selah will validate and develop each of these tests individually out of its laboratory, it is also deciding whether to combine the tests into one next-gen sequencing-based test.
Jeremy Stuart, Selah's VP of genomic services, told CSN that one option would be to incorporate the individual SNPs assessed in the Thrombo, Cardio, and Nutri tests into the SudD test.
Bolick said that the company is now in discussions with third party payors about reimbursement for the tests and is readying a regional pilot program to offer the sequencing-based cardiovascular test as part of a corporate wellness program. The pilot will help Selah figure out a pricing structure and will also demonstrate a "return on investment to the corporation, by allowing for better determination of risk of heart disease," Bolick said.
Currently, Selah's other NGS test, PrecisionPath, is being paid for by ITOR. However, Bolick said that initial conversations with third party payors about launching the assay outside of the Greenville Health System have been positive.
Reimbursement success will play a role in determining how the company expands beyond its current tests. For instance, while Selah is interested in moving into clinical exome sequencing, Stuart said that right now there is a "lot of uncertainty around reimbursement for targeted NGS tests, let alone exome sequencing." Selah will first "establish reimbursement for those and then may expand into what's possible for exome sequencing," Stuart said. But currently, the exome market is research use only.