By Al Doig
March 29, 2011 | Insights Outlook | Molecular diagnostics (MDx), a branch of in vitro diagnostics, is based on determining nucleic acid sequences mainly for medical applications. Sequence determination is largely performed using methods based on hybridization of labeled DNA probes with target nucleic acid sequences. Early molecular diagnostic assays focused on detecting pathogenic microorganisms, and were limited, relative to culture-based methods, by label detection issues. A breakthrough for the field occurred when Gen-Probe increased assay sensitivity by targeting the many copies of microbial ribosomal RNA instead of the single chromosomal copy, an innovation that launched the molecular identification of bacterial pathogens market.
The development of PCR target amplification in the 1980’s virtually ended concerns over sensitivity and enabled development of assays for viral nucleic acids. In the intervening years, the field has witnessed a wave of competitive target amplification innovation directed at overcoming IP barriers and protocol difficulties. Other significant technological contributions have come in the areas of signal amplification and multiplex assays for simultaneous detection of large numbers of differing mRNAs.
The current molecular diagnostics products scene is dominated by assays for infectious agents, cancer, and genetic diseases. Within the infectious disease area, molecular diagnostics are used to identify sexually transmitted diseases as well as many viral targets including HIV, hepatitis B and C, human papilloma virus (HPV) and flu viruses. These tests are also used to test all units of donated blood intended for transfusion for specific viral elements.
Cancer-related testing can be categorized as diagnostic, companion diagnostic, prognostic/therapy selection, and predictive. Tests cover colon, lung, prostate, bladder, and esophageal cancers, as well as leukemias, gliomas, multiple myelomas, and others. Companion diagnostic assays aid in deciding whether a given patient qualifies for a particular drug. For example, Dako and Abbott provide MDx tests for overexpression of the HER2/neu gene which predict response to Genentech’s Herceptin.
The molecular diagnostics market has undergone significant change and new technologies promise to yield product line extensions and well as machines for the point-of-care market as test automation expands. Next-generation sequencing is awaiting further refinement before quite possibly having a major impact on the character of the MDx market. “I’m really excited about it [NGS], but it’s very impractical today to use it in diagnosis…eventually sequencing will be important for diagnostics” says Lyle Arnold, President and Founder of Aegea Biotechnologies.
However, regulatory reforms now under consideration could slow market growth, although recent political shifts are likely to slow or even prevent much of an impact for 2011 and into 2012. Tom Adams, senior CTO and director of IRIS International and founder of Gen-Probe had this to say, “It’s my own personal opinion that they [FDA] won’t do it… It would have a chilling effect on innovation all through diagnostics.”
The MDx market is currently growing at 15% annually, nearly double the rate of the overall in vitro diagnostics market, and is estimated to reach $8.4 billion in 2014. Oncology and critical care infectious disease testing sectors are likely growth leaders. Looking ahead two years, even if regulatory reform stalls, the industry still needs improved reimbursement for esoteric and expensive diagnostic products for personalized medicine.
Yet the MDx market remains dynamic in the sense that small companies continually develop useful new assays in newer, less mature MDx sectors. Furthermore, if and when significant regulatory reform does adversely affect MDx, it is likely to do so in a phased manner, starting with the highest risk assays and include significant levels of “grandfathering.” Despite these challenges, Harry Glorikian, founder and managing partner of Scientia Advisors adds “the main point is that MDx is changing the paradigm that’s more digital, if you will, than analog, decisions that directly influence downstream therapy decisions.”
Al Doig is general manager, Insight Pharma Reports. He can be reached at email@example.com.
Further reading: The field is reviewed in Insight Pharma Reports’ Molecular Diagnostics: Double-Digit Growth Anticipated Report. February 2011. www.insightpharmareports.com
This article also appeared in the March-April 2011 issue of Bio-IT World Magazine. Subscriptions are free for qualifying individuals. Apply today.