Laboratory Medicine & Molecular Diagnostics

Laboratory Medicine & Molecular Diagnostics

I recently had the opportunity to attend and present in a Molecular Diagnostics conference held in Ft. Lauderdale Florida. Although I typically shy away from these "technical" types of gatherings, I was quite surprised to find the majority of the presentations and discussions moving away from the scientific developments, which have dominated this area for the past couple of years, to the real-world health care uses for these new discoveries.

Since the '60s and '70s, widely considered the "golden age" of molecular biology, development around the understanding of DNA and its ultimate translation into the proteins - the building blocks of cells - has been a tremendously steep curve. Early manual methods developed to extract, magnify, and measure these proteins have given way to more automated platforms capable of measuring multiple assays on multiple samples at one time. It has been widely publicized that although originally costing in the millions, the current cost to fully map an individual human genome is now approaching $1,000.

Scientifically speaking, this is all great news! But what does it mean for the health care community, and to each of us as individual human beings? Because, science and technology-advances aside, the ultimate applicable translation of these findings into better health care is what we are striving to achieve. It is this translation that is now beginning to take shape and find its way into advances in health care.

The uses for molecular-level diagnostics are many; ranging from more specific diagnosis of illness, to predetermination of specific diseases, to determination of the most effective therapeutic agent to use with both a specific disease and specific individual patient. It is this last use that is commonly referred to as "personalized medicine." The ability to now more accurately pinpoint the disease, as well as determine which medication will give the individual patient the best prognosis, has huge positive ramifications for both health care in general, as well as for individual patients.

Historically speaking, drugs have been given to each patient on a trial and error basis. Since the drug given has been shown to work on many patients with a same disease, it should therefore work in every individual case. However, we now know that no two individual patients react the same to any specific medication. In fact, the same medication found to help many patients may actually harm others. This harmful reaction is what we now call an Adverse Drug Reaction (ADR).

Recent studies have called out ADRs as the fourth leading cause of death in the U.S., with more than 106,000 patient deaths per year resulting from drug reactions. More striking, it is believed that up to 28% of inpatients suffer ADRs - including nearly 2.2 million serious but non-fatal occurrences each year. The cost of these unfortunate instances adds more than $150 billion to our nation's health care costs.

Clearly, we are at an incredibly important crossroad in laboratory medicine with the developing knowledge and application of personalized medicine. Its global application in health care to minimize ADRs and control costs are only overshadowed by its individual use to better manage each patient's health care needs. While this exciting area continues to unfold, we at MuirLab, under our Medical Director, Dr. Barry Latner, and his colleagues in the Contra Costa Pathology group, will continue to review applications of these new scientific discoveries to assist our physicians in providing the best possible health care to our patients.