WASHINGTON – Researchers are using a growing understanding of the molecular and genetic mechanisms of disease to develop medical tests that are more convenient, more precise, and less risky for patients. A special issue of Clinical Chemistry, the journal of AACC, titled “Molecular Diagnostics: A Revolution in Progress,” highlights the latest research at the forefront of this field—research that could advance testing for a range of illnesses, from prostate cancer to rare genetic conditions.

Molecular diagnostics involves analyzing biological molecules such as DNA, RNA, and cellular proteins to diagnose and monitor disease and predict patient response to treatment. Research into molecular diagnostics has advanced cancer testing through “liquid biopsies,” which detect tumor cells or DNA in the blood, and this special issue of Clinical Chemistry features breaking research on two such tests for prostate and breast cancer. The research shows that prostate and breast cancer patients could be diagnosed and monitored for drug resistance through simple blood tests rather than painful tissue biopsies that carry risks of infection or injury.

Similar techniques to those used for liquid biopsies have led to the advent of noninvasive prenatal testing (NIPT), although current NIPT methods still can’t diagnose most genetic disorders that are caused by only one mutated gene. Research in this issue shows that a new NIPT method known as cSMART could enable pregnant mothers to test their fetuses for single-gene disorders without risking miscarriage from standard invasive procedures such as amniocentesis.    

A saliva test for diseases such as cancer would be even easier than a blood test for patients to undergo, and a pioneering molecular diagnostics study in this issue has laid the foundation for making this a reality. In the study, researchers conducted the most comprehensive analysis of RNA in saliva to date and discovered that saliva contains many of the same RNA molecules as blood. This means that a saliva test for disease-associated RNAs could potentially diagnose illnesses ranging from diabetes to neurological conditions.

None of this progress in molecular diagnostics research would be possible without constant improvements in biomedical technology, and this special issue of Clinical Chemistry features research that pushes the envelope with polymerase chain reaction (PCR), a technology that is key to performing many molecular tests. In the study, researchers drastically reduced the time it takes to perform PCR, from 10–30 minutes to a mere 15–60 seconds. This so-called extreme PCR could provide instant test results in a variety of time-sensitive situations, from diagnosing Ebola in the field to determining how a patient will react to a certain medication before writing a prescription.   

“In 2009, molecular diagnostics was ‘at the cutting edge of translational medicine,’ and now we suggest ‘a revolution in progress,’” write issue editors and molecular diagnostics experts Rossa W.K. Chiu, PhD; Y.M. Dennis Lo, MD, PhD; and Carl T. Wittwer, MD, PhD, in the preamble to the special issue. “The field is rapidly changing and remains attractive to academics and industry, often mentioned along with personalized medicine as our solution to better healthcare. What will happen next? That is the excitement and uncertainty of a revolution.”


About AACC

Dedicated to achieving better health through laboratory medicine, AACC brings together more than 50,000 clinical laboratory professionals, physicians, research scientists, and business leaders from around the world focused on clinical chemistry, molecular diagnostics, mass spectrometry, translational medicine, lab management, and other areas of breaking laboratory science. Since 1948, AACC has worked to advance the common interests of the field, providing programs that advance scientific collaboration, knowledge, expertise, and innovation. For more information, visit www.myadlm.org.

Clinical Chemistry is the leading international journal of clinical laboratory science, providing 2,000 pages per year of peer-reviewed papers that advance the science of the field. With an impact factor of 7.7, Clinical Chemistry covers everything from molecular diagnostics to laboratory management.