April 1, 2010 (Vol. 30, No. 7)

K. K. K. Jain, M.D.

Growth Being Driven by Sequencing Advances and the Personalized Medicine Quest

The scope of the molecular diagnostic market is much wider than usually realized, which tends to skew market estimates. Many reports that attempt to estimate the size of the molecular diagnostic market fall short because new technologies, including biomarkers, copy number variation, and DNA sequencing, which are integral to the category, are overlooked.

The worldwide molecular diagnostic market, including peripheral technologies, in vitro and in vivo diagnostics, and molecular imaging, was worth $9 billion in 2009. It is estimated that the market will expand to $15.5 billion in 2014 and $42.5 billion in 2019. New technologies have been responsible for 15 years of steady growth in the sector. 

Apart from the market value in dollars, another growth indicator has been an increase in the number of major players involved in the sector. The number of companies actively involved in developing molecular diagnostics increased from less than 100 in 1995 to over 500 in 2010.

Overlap in several molecular diagnostic technologies makes it difficult to divide the market more precisely. The complex relationship between molecular diagnostics and other technologies is shown in the Figure.

DNA sequencing, which is currently used mostly in research with emerging applications in drug discovery and molecular diagnostics, is one of the most promising contributors to growth in the molecular diagnostic sector. DNA sequencing and molecular diagnostics are intricately linked  to the concept of personalized medicine.

Genomic medicine, a component of personalized medicine, suggests that the sequencing of the human genome will enable healthcare to enter an era in which an individual patient’s genome will help determine the optimal approach to care, whether it is preventive, diagnostic, or therapeutic. Personalized genome sequencing, as a result, will likely become an integral part of personalized medicine in the near future.


Molecular diagnostics is intricately linked to a number of other technologies.

DNA Sequencing

The value of the DNA sequencing market in 2009, including reagents and instruments, was $700 million worldwide, with U.S. sales contributing over $500 million of that. The market is estimated to expand to $900 million by 2014 and $1.8 billion by 2019.

Sequencing is still quite expensive, but initiatives to bring the cost of sequencing one’s genome down to $1,000 are under way and should be realized soon. Right now, however, the greatest need is for simple-to-operate, portable, and affordable small sequencers that can be integrated into point-of-care diagnostics, as well as used for research in smaller laboratories.

The use of small sequencers is likely to expand considerably, particularly with the increasing acceptance of personalized medicine. There are over 300,000 scientists working in smaller peripheral laboratories worldwide, and as a result, there is a market potential for at least 50,000 small sequencers over the next five years.

Companies that develop large sequencing machines are aware of the demand for small sequencers and are advancing next-generation products that are less expensive and more suitable for smaller laboratories, although, cost and operational expertise remain limiting factors for broad usage.

K. K. Jain, M.D. ([email protected]), is CEO of Jain PharmaBiotech.
Web: pharmabiotech.ch.

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