Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
O PINION A reality check for molecular diagnostics in clinical practice ‘In this growing arena of molecular diagnostic tests, the paradigm has shifted from that of a technologic/scientific concern to one of a financial concern.’ Gregory J Tsongalis Department of Pathology and Laboratory Medicine, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102, USA Tel: +1 860 545 2308; Fax: +1 860 545 3733; Email: [email protected] Ashley Publications Ltd www.ashley-pub.com Molecular diagnostics, while still evolving, has had a major impact on the practice of laboratory medicine. Overall, the technologies that define molecular pathology as a discipline are universally applied to support clinicians in their healthcare delivery. The molecular pathology laboratory began with the transition of a few molecular biology research tools into the clinical laboratory to the more recent development of new technologies and instrumentation solely for clinical laboratory practice. Concomitantly, the demands for expanded applications to address diagnostic/prognostic, risk assessment, predisposition, and therapeutic testing have far outnumbered the capacity of laboratory delivery systems. As this discipline continues to mature, we must be willing to address issues pertaining to clinical utility, financial responsibility, advanced technologies, training and education. In light of the successes of the Human Genome Project and other genome projects, the number of potential nucleic acid targets for molecular diagnostics continues to increase. Given the current technologies, it is possible for a laboratory to develop ‘in-house’ or ‘laboratory developed’ assays on a routine basis for the purpose of diagnostic testing. In addition, industry is rapidly providing reagents under the analyte specific reagent (ASR) rule of the US Food & Drug Administration (FDA). The critical question is which of these nucleic acid targets will be most useful in patient care? In order for this discipline to move forward, we must better understand the clinical utility of tests offered in the laboratory. For example, most infectious diseases have been characterized by the fulfillment of Koch’s postulates which have most often associated a specific organism with a pathologic process. Therefore, identifying this organism in a patient specimen should indicate the presence of 2003 © Ashley Publications Ltd ISSN 1462-2416 disease. However, molecular diagnostic testing has an unprecedented level of sensitivity and specificity. Latent or dormant infections, the presence of normal flora, and co-infections are all issues related to the clinical utility of a molecular microbiologic test. As another example, through genetic testing or genotyping, we are able to identify a gene target in a patient specimen. This qualitative type of data may not be sufficient without supportive clinical outcomes data. We must better understand mutation spectra, the penetrance of a specific mutation, the role of polymorphisms in normal and disease processes, as well as the association of haplotypes with disease processes. A laboratory test is only as meaningful as its interpretation. In this growing arena of molecular diagnostic tests, the paradigm has shifted from that of a technologic/scientific concern to one of a financial concern. Clearly, molecular diagnostic testing has proven itself. Yet, the addition of highly complex testing in conjunction with lack of replacement of traditional testing is viewed as an increase in laboratory costs. Keep in mind that under certain circumstances, an increase in laboratory cost may in fact result in decreased overall institutional healthcare costs. Reimbursement for molecular diagnostic testing varies considerably from state to state and is dependent upon payor mix and capitation rates. ‘Molecular diagnostics began as a labor intense, hands-on discipline and is rapidly being replaced by instrumentation and robotics.’ Payments for these tests are based on Current Procedural Terminology (CPT) codes for which many test-specific and molecular procedural codes have been established. National Medicare/Medicaid rates are typically used in assessing payment. A large amount of financial responsibility is justifiably placed on the laboratory director for knowing what the potential reimbursement is for a test and the potential savings to your institution in both laboratory costs as well as healthcare delivery costs. Pharmacogenomics (2003) 4(5), 667–668 667 OPINION Critical to the management of a molecular diagnostics laboratory is the selection of appropriate technologies. With respect to clinical utility, the technology will dictate performance characteristics necessary for patient testing. In addition, the appropriate technologies for your laboratory can either increase or decrease overall costs. Molecular diagnostics began as a labor intense, hands-on discipline and is rapidly being replaced by instrumentation and robotics. The Abbott LCx® and Roche Cobas Amplicor™ systems were the first semi-automated platforms for high volume molecular infectious disease tests. Subsequently, other automated platforms and highly robotic liquid handling systems have become available. In addition, the newest microchip technologies are making their way into the clinical laboratories. With companies anxious to place their instruments in clinical laboratories, it is the laboratory director who should ultimately decide whether the fit is good or not based on cost/performance instead of the newest trend. ‘Molecular diagnostics is more than just another laboratory test, it is a tightly knit web of diagnostic principles capable of addressing issues pertaining to clinical utility, financial responsibility, technologies, and education.’ Finally, there is a brewing national crisis with respect to qualified personnel in laboratory medicine, molecular diagnostics being no exception. 668 Through the School of Allied Health at the University of Connecticut, we have created a premier training program for students in the Diagnostic Genetic Sciences (Martha Keagle, Program Director) and have more recently begun to incorporate molecular pathology courses into the Medical Technology Program (Rosanne Lipcius, Programme Director). The continuation of these programs is our effort to aid in this national crisis. In addition, we have begun introducing specific molecular diagnostic educational checklists for all pathology residents and fellows, not just those in subspecialty training. Training of individuals in this field, however, is only part of the educational process that needs to be addressed. As a first step in addressing some of the earlier issues discussed, a fundamental problem continues to be the education of healthcare providers. In addition, we must continue to educate payors and the general public. Through seminar and web-based educational programs, publications, and other educational venues provided by national organizations, we will be able to accomplish this task. Molecular biology is a very powerful diagnostic tool that can help answer the most fundamental scientific questions and critical clinical questions. How we proceed will define the future of diagnostic medicine. Molecular diagnostics is more than just another laboratory test, it is a tightly knit web of diagnostic principles capable of addressing issues pertaining to clinical utility, financial responsibility, technologies, and education. As these issues are appropriately addressed, molecular diagnostics will continue to have a major impact on healthcare delivery. Pharmacogenomics (2003) 4(5)