Send to printer »

GEN Exclusives: January 01, 0001 (Vol. , No. )

Molecular Diagnostics Continues to Deliver

Predictions for the Future of NGS and PCR

  • Molecular in vitro diagnostics (IVD) represents a tenth of the IVD market, yet most of its hopes for future revenue growth. Once esoteric, these tests have earned their place in routine medical practice and expanded to all levels of healthcare—from the pathology lab to the doctor’s office and clinics of the developing world. Still, as they occupy routine spaces, their growth trajectory is secured through platform innovation in lower-cost nucleic acid amplification tests (NAATs) and clinical next-generation sequencing (NGS).

    Simply said, molecular diagnostic products on average experience faster revenue growth than other testing products. The worldwide molecular diagnostics market is projected to reach nearly $10 billion in 2021, according to Kalorama Information’s latest report, The World Market for Molecular Diagnostics, 7th Edition. They are projected to outperform the overall IVD market—growing by 8% compared to under 4% annually for the overall IVD market.

    The market is growing because technology choices are growing. Accounting for the majority of clinical molecular diagnostic testing, NAATs have shifted near entirely (in the clinical domain) from PCR-gel electrophoresis workflows to real-time PCR and other instrument-integrated workflows, such as array detection. The result has been the decentralization (or in a sense the democratization) of NAATs, from specialized clinical labs to hospital labs and more recently near-patient settings such as urgent care clinics, physician offices, and field testing sites in the developing world. The marketing of diverse, new, molecular diagnostic systems and assays to meet new areas of demand in healthcare has been a tremendous source of growth in the IVD market.

    The opportunity for molecular technologies cuts across condition segments:

  • Cancer: Multiple Approaches

    The complex problem of cancer requires many different technologies, both molecular and non-molecular. Within molecular, there are different approaches. In situ hybridization (ISH) represents virtually the entire molecular histology diagnostics market, and along with NAATs and next-generation sequencing (NGS) assays serves molecular testing for cancer. Localization of disease has dictated that the majority of cancer testing be performed from biopsied tumor or tissue samples. Emerging technologies such as digital pathology and RNA ISH should support a continued role for visualized, tissue-based testing by providing analytically rich morphological context.

    Cancer assays have the highest forecasted rate of any of the segments. This is because the pharmaceutical industry is involved in this segment of molecular testing and the pipeline of targeted therapies and additional opportunities from the integration of NGS, introduction of liquid biopsy tests and multiplex cancer profiling panels, and globally relevant demographic aging. The future of molecular cancer diagnostics likely lies with nucleic acid sequencing. Using NGS platforms, clinical molecular diagnostics could transcend binary, positive-or-negative results and provide unrivaled specificity by identifying any number of SNPs or highly variable mutations associated with complex genetically rooted diseases like cancer.

  • Genetic Diseases: Challenged Market for Kits

    Inherited diseases and other testing was a foundational application of molecular diagnostics and still an important market component, but stable demographic incidence of these diseases and lack of successful product introductions have largely stalled growth. Thrombophilia and pharmaco-diagnostic genetic markers have been more widely accepted by European payers, but are increasingly denied coverage by U.S. payers. The clinical utility of additional disease risk and drug metabolism markers identified in research has not been established adequately. The market segment features a heavy mix of test services rather than IVD kits, which has also inhibited market development.

  • Infectious Disease: Expanding the Menu

    For the near term, infectious disease is the key to the success of molecular diagnostics—projected to account for nearly two-thirds of the market by 2021. The market segment is defined by test decentralization with the introduction of NAAT platforms able to be operated in hospital labs and near-patient points of care such as physician office labs (POLs) and outpatient clinics. Integrated design from sample preparation to results analysis and user-friendly features are just as appealing to larger clinical labs to free up personnel. Menu expansion on integrated analyzers has been the predominant focus of competitors in molecular infectious disease diagnostics. Market share and client retention depend on the ability of one platform to perform all routine infectious disease tests.

    The development of molecular tests has been prioritized for all recent disease threats, notably Ebola and Zika virus. While immunoassays are preferred for routine screening and by cost-constrained labs, molecular tests offer optimal sensitivity and specificity—key to public health response, diagnosis, and targeted treatment. Infectious diseases range from the common flu to antimicrobial-resistant inpatient infections, and engage all levels of healthcare and thus represent the largest market for molecular diagnostics.

    There are also challenges to the growth in molecular testing. The pace of technological development in clinical molecular diagnostics has been difficult to match for clinicians, payers, and regulators. The explosion of clinical molecular tests into the U.S. marketplace prompted an overhaul in billing codes to provide payers greater transparency into what is being ordered for which patients. Confronted with major healthcare cost drivers in demographic aging and the introduction of medical technologies, payers have subjected molecular diagnostic tests to greater scrutiny—temporarily halting payments or ending coverage for whole groups of tests. Where definitive clinical utility has been found, payments have continued, particularly for prognostic and companion assays in oncology.

  • Conclusions

    The future of the molecular diagnostics market lies with nucleic acid amplification tests and sequencing-based tests. Time to results for real-time PCR and isothermal amplification are crucial for several infectious disease testing applications including respiratory testing, hospital-acquired infections, bloodstream infections, and molecular point-of-care tests. Superior sensitivity and noninvasive sampling will make qPCR and NGS the future methods of choice for cancer testing and prenatal screening. The contribution of molecular testing to modern medicine is not finished yet.