Medical Device Link.

FINAL THOUGHTS

When the Human Genome Project began in 1990, it was clear that genetics had the potential to dras-tically alter medical practice. Today, genetic tests can show predisposition to a variety of illnesses, including cancer, cystic fibrosis, liver diseases, disorders of hemostasis, and others. Genetic tests can also determine whether certain types of targeted therapies will be effective and whether the infectious organism a patient harbors is resistant to drugs. For example, FDA now recommends certain genetic testing—such as CYP2C9 and VKORC1 gene polymorphism analysis—before warfarin therapy and may suggest KRAS testing for Erbitux or Vectibix therapy. Yet genetic testing is still far from being a standard component of clinical decision making. There are multiple reasons for this, but the cost associated with genetic testing is clearly one important factor.

A few years ago while at EraGen Biosciences, I helped develop multiplexed systems for CFTR mutation analysis and respiratory viral detection. These are two rather complex genetic testing devices that were regularly found to be more accurate, more comprehensive, faster, and more sensitive than the existing gold-standard tests. What I learned during this work was that the benefits these genetic tests bring to the patient are real. Determining what mutations a patient houses in the CFTR gene can allow physicians to better understand the severity of the disease. Learning which virus type is infecting a patient can help determine risk factors associated with asthma, can be used in the surveillance of outbreaks, and can influence decisions to initiate antibiotic or antiviral therapy.

If we agree that certain genetic tests can benefit the patient, then the question for the health industry is whether or not genetic testing will actually reduce overall medical costs. I have come to believe that not only do these new tests save costs, they will be the cost savings that will force pathology laboratories to retool.

Taking a closer look at the aforementioned multiplexed respiratory detection test, and asking now whether or not the test could save money if implemented in hospitals to determine if patients with an upper respiratory disease should be admitted or prescribed antibiotics, the answer is not so clear. In one hospital study, which is frequently used to argue against cost savings, the authors suggest that multiple single-target polymerase chain reactions used to diagnose patients with respiratory disease did not save costs. However, there were too many limitations to the study—some of which were encapsulated in a helpful review of the report. In general, the study needed to include more targets (viral and bacterial), make use of available multiplexed tests, and be double-blinded.

I also suggest that all costs be analyzed in future studies—not just the direct costs. For example, the economics of treating patients infected with drug-resistant bacteria brought on by the unnecessary use of antibiotics should be considered. The costs associated with fighting drug-resistant bacterial strains exacerbated through the overuse of antibiotics is real and should be carefully analyzed. For instance, could early determination that infections are viral cut down on the use of antibiotics? Further costs are associated with patients that wait in hospitals until diagnosis is made. In some cases, patients spend this time in expensive intensive-care units.

Finally, as hospitals and clinics begin to implement these new tests and abandon their old operating procedures, costs will diminish further. There are many good reasons for this: Laboratories will become more proficient at performing these tests, inevitably increasing throughput; more tests will become available on any given platform, which will lower equipment and supply costs; and manufacturing costs should also decrease as demand and production increase.

Now, almost 20 years since the Human Genome Project began, new opportunities not previously possible with past drugs and old testing formats are springing up. Genetic testing platforms are finding new uses in the areas of oncology, hypertension, infectious disease, and cardiology. So as this industry continues to grow, the winners will not be clinging to the status quo of today. Instead the rewards will go to the visionaries who supply user-friendly testing systems, work at educating physicians to the benefits of genetic testing, and convince the payers to enable fair reimbursement scheduling. The sooner this happens, the sooner everyone wins.