Sequencing the New Horizon in Clinical Molecular Diagnostics

Sequencing the New Horizon in Clinical Molecular Diagnostics

Non-infectious disease molecular assays represent approximately only 1% of the global in vitro diagnostics (IVD) market, but are recognized by nearly every significant industry player as the most promising diagnostics area in terms of market development and future growth. IVD-leading growth in molecular diagnostics is fueled by genomic discovery and gradually improving coverage under health insurance (not without some hiccups, namely molecular procedure recoding). Not since the commercialization of polymerase chain reaction (PCR) tests has molecular diagnostics been presented with such a promising technology as next-generation sequencing (NGS). Kalorama Information analyst Shara Rosen touched upon NGS’s blue-chip status in the recently published The Worldwide Market for In Vitro Diagnostics Tests (9th Edition):

For the past few years sequencing has caused a “buzz” rarely seen in the IVD industry; even PCR did not evolve with the same velocity. Sequencing is considered the next frontier in personalized medicine that is frequently referred to as next-generation (next-gen) sequencing - smaller, faster and cheaper instruments and technologies that aim to put sequencing into the hands of routine labs.

The current clinical sequencing market is limited to NGS system sales to select laboratories (the largest reference labs and genetic specialty labs) and subsequent provision of testing services as laboratory developed tests (LDTs). A senior member of National Human Genome Research Institute (NHGRI) recently estimated that 10,000 clinical genome and exome sequencing tests will be ordered in the United States in 2014.

Next-generation sequencers represent uniquely powerful laboratory tools for diagnostic and research use and are expected to remain a significant area of investment for the largest reference labs and specialty labs. Complicating the development of the sequencing test market is the frequent refusal of insurers to cover and reimburse sequencing tests due to the procedure’s demonstrated ability to identify genetic disease in roughly only a quarter of cases and the high price of the test - commonly $5,000 to $17,000. It is reassuring that some instances of reimbursement have been reported. A strong value proposition exists for sequencing that allows patients and payers to forego an expensive litany of single-gene tests and other diagnostic procedures. Meanwhile, the cost of sequencing is dropping quickly with the $1,000 milestone eminently achievable.