Steven Burrill
09/01/2005
In the medical field, therapeutics has traditionally captured the headlines, leaving the field of diagnostics (Dx) to languish in the shadow of drug development. But now, thanks to the body of new information on the genetic, genomic and proteomic profiles of different diseases, this situation is poised to change dramatically. This new knowledge is driving the development of molecular diagnostics, which can be defined as the use of diagnostic testing to understand the molecular mechanisms of an individual patient’s disease.
Molecular diagnostics, in fact, has the potential to completely change the way health care is managed, allowing both the diagnosis of disease and the administration of treatment to be performed at an earlier stage than is currently possible. Today, drug dosage levels are based on a patient’s age, sex and weight, as determined by empirical studies. However, the way your body metabolizes a specific drug can be as individual as your fingerprints. Imagine the significant improvement in treatment efficacy if the medications you take were based on your own genetic analysis, not on the accumulated outcomes of other patients. Suddenly, we are tantalizingly close to the promise of personalized medicine.
With 80 percent of this country’s $1.7 trillion annual health care spending allocated to the treatment of chronic diseases and an estimated 125 million Americans living with one or more chronic conditions, the economic incentive for disease prevention is enormous. Leading the brigade for a more predictive, personalized and preventive approach to health care are the payers: managed care companies and the government—two entities that, in one way or another, foot most of the bill.
In fact, the FDA recently issued guidelines for submitting pharmacogenomic data with new drug applications. Indeed, the agency is encouraging the use of molecular diagnostics and information-based medicine to more accurately couple the right therapy to the right patient.
Ultimately, molecular diagnostics has the potential to renovate the practice of medicine. It can be used to aid clinical diagnosis, determine disease susceptibility, identify the correct tissue type in organ transplantation and screen blood for transfusion. The technology and resultant data will also facilitate drug discovery, molecular toxicology and the detection of microbial contamination in biopharmaceutical manufacturing. It has niche opportunities in forensic and veterinary medicine as well. In fact, the list is limited only by the availability of a relevant gene sequence of interest and the market demand for its identification.
Although at present molecular
diagnostics represents only a small portion of the global clinical in vitro
diagnostics marketplace, current estimates value the worldwide market at about
$1.5 billion. Going forward, the market is set to increase at an annual growth
rate of approximately 15 percent. At this time, more than 300 companies market
molecular diagnostic products. While three companies—Roche, Bayer and Abbott
Diagnostics—control a majority of the market, many small biotech companies also
contribute to the new technology base.
Last year saw several significant
advances, such as the development of the first genetic lab test system that
enables physicians to prescribe medications based on a patient’s DNA. Also, the
FDA approved about 20 novel tests, including one that can determine which
patients will respond favorably to a transplant and which will not.
We are
also seeing the emergence of theranostics, which combines drug therapy and
diagnostics to advance two goals of personalized medicine: to identify those
patients most likely to respond to a given medicine and to monitor the
biological effects of the drug as therapy progresses.
Despite its benefits,
molecular diagnostics must clear several roadblocks to widespread adoption.
Reimbursement by third-party payers is a primary concern, as is the lack of
standardization across test platforms and the inability of physicians to fully
interpret pharmacogenomic data.
Because molecular diagnostics reveals an
individual’s genetic data and isolates risk for specific diseases, ethical
questions come into play. These issues merit debate, a process that is already
underway as innovators and regulators proactively support sound public policy
that will accelerate the adoption of personalized medicine. The move to a more
personalized, predictable and preventive health care world is upon us.
 | Steven Burrill is CEO of Burrill & Co., a biotechnology venture group, and an adjunct professor at the University of California, San Francisco. |