Molecular Diagnostics: A New Paradigm
The next 10 to 15 years will produce major changes in the clinical laboratory regarding the use and application of molecular diagnostics. Today, molecular genetic testing promises to provide an entirely new means for individualizing and personalizing patient care at a level never imagined before. While currently utilization of molecular genetic tests is applied to 1 percent of the general population, it is estimated that molecular genetic testing in the era of personalized medicine will be applied to 60 percent of the general population. Molecular genetic testing is being touted as a new tool to provide clinicians with information needed to predict the risk of developing disease and therapeutic outcome before treatment.
Technologies:
Laboratory automation has the potential to be the most successful, medical cost-savings measure of our time. Automation can streamline and improve the process of becoming more financially efficient. Automation systems will be complete from start (specimen processing) to finish (generating a result). One can envision a not so distant future in which molecular genetic tests (both less complex and more sophisticated) will be completely automated and will operate without major intervention by personnel.
The Challenges
Clinical Validation of New Markers:
Several tasks lie ahead in molecular technologies. First, correlation of genetic testing with diseases must be validated. Most of the molecular signatures are based on retrospective studies, but prospective studies are needed. Secondly, consideration should be given to the question of whether a new marker meets the criteria for being a valuable and practical clinical tool.
Reimbursement:
Medicare reimbursement covers only about 20 percent to 30 percent of the actual operational costs. It is not news to us that laboratories are undervalued today. Clinical measures do not truly capture the value of laboratory testing. Laboratory test results provide 70 percent of the information necessary for clinical decisions, and yet laboratory costs represent only 4 percent of the total spent on patient care. Both government agencies and companies who employ a large number of employees are realizing that a quality health outcome can save money. As a result, they use key quality benchmarks to reward high-performing healthcare delivery systems. With the addition of molecular testing, the importance of the laboratory to the healthcare economy will be enhanced. The challenge will be in developing better tools to truly measure the economic value that molecular genetic testing will provide.
Privacy/Legislation:
The changes in healthcare practice due to new molecular tests will most likely trigger changes in socioeconomic relations. Strict regulations must ensure that genotypic information and expression profiling is obtained for medical purposes and is the exclusive property of the patient. It will become imperative that privacy, protection of minorities, and prevention of discrimination become a major undertaking of the federal or local government. In light of these opportunities and challenges, our roles in molecular diagnostics will most likely expand and even change.
Pathologist:
It will affect both pathologists and laboratory medicine practitioners. The way we spend our time will change from developing tests, implementing them, troubleshooting them, and reporting results to the role of consultants to healthcare professionals and patients. Even with the advent of more decentralized testing, interpretation of tests and its significance will become more complex. This will require the assistance of trained laboratory practitioners that fully understand the clinical implications and limitations of genetic testing for each patient. We will also become more involved with the education of test utilization and interpretation via different media – that is, from traditional interactions with healthcare professionals to development of informational material through smart informatics systems. The Association for Molecular Pathology (AMP) continues to play an active role in the development and implementation of these new opportunities and challenges. We invite everyone who is interested in molecular genetic testing to visit our Web site (www.amp.org) and explore our online Test Directory (www.amptestdirectory.org), and consider our journal, The Journal of Molecular Diagnostics.
About the Author:
This article was published in association with Future Healthcare by Dr. Andrea Fereira-Gonzalez Professor of Pathology, Virginia Commonwealth University Director of Molecular Diagnostics Laboratory, Virginia Commonwealth University Health System
