Download A reality check for molecular diagnostics in clinical practice

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
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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)