Clinical Chemistry 45: 725, 1999;
(Clinical Chemistry. 1999;45:725.)
© 1999 American Association for Clinical Chemistry, Inc.
Issues in Genetic Testing
Donald S. Young
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Introduction
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TheClinical Chemistry Forums of the American Association for Clinical
Chemistry are designed to air controversial issues in the broad field
of clinical chemistry. The Eighth Annual Forum was held on November 3
and 4, 1998. This Forum differed from previous meetings in the series
in that it was sponsored cooperatively by the Association for
Molecular Pathology. The topic of the meeting was "Issues in Genetic
Testing". The Forum examined the legislative, regulatory,
professional, and scientific issues involved in genetic testing. The
Clinical Chemistry Forums of the AACC are oriented toward the
regulatory or administrative aspects of clinical chemistry, thus
complementing the organization's Oak Ridge Conferences on
innovative technology and Arnold O. Beckman Conferences on clinical
applications of clinical chemistry.
We publish here, in their entirety, some of the presentations from the
1998 meeting (1)(2)(3)(4). Another article from the 1998 Forum has
already appeared in these pages (5). A summary of the
remaining presentations will be published in a future issue of
Clinical Chemistry. The meeting topics ranged from an
overview of genetic testing from its past through its current status to
its possible future applications (1). Various aspects of
current and pending legislation, in both the House and the Senate, were
discussed. The most critical issues are related to the privacy of
information and health insurance coverage for genetic testing. The
ethical concerns associated with genetic testing are very real because
of its potential to predict an individual's susceptibility to certain
diseases and even his or her response to various forms of treatment.
The Chair of the NIH Task Force on Genetic Testing presented the
group's recommendations for regulating genetic testing (2).
The current status and probable future direction of CLIA regulations
(3) on genetic testing and the FDA's position
(4) with regard to regulation of genetic testing also were
discussed. The legal responsibility for a laboratory to protect genetic
data and the ways in which these differ from traditional data are
important considerations for a clinical laboratory performing genetic
tests.
Many laboratories that have embarked on genetic testing have found that
it is not worthwhile economically and have instead referred the work to
reference laboratories. This lack of fiscal viability is attributable
to the high cost of what are basically labor-intensive procedures and
to the inadequately developed systems to reimburse
laboratories for performing the tests. The audience heard
how it is possible with aggression and persistence to obtain a
reasonable level of reimbursement for some of the genetic
tests. Because molecular testing is the area of clinical
laboratory medicine that is likely to grow most rapidly in the future,
reimbursement is of primary concern.
For clinical laboratories to prosper in the future, an investment in
molecular pathology will become essential. The Human Genome Project is
evolving faster than envisaged, but one outcome that is causing great
concern to clinical laboratory diagnosticians is the patenting of
disease-associated genes (5), which may restrict the
availability of such assays, while at the same time, through reduction
of competition, increase the cost of the tests to patients.
Conceivably, a worst-case scenario could arise if only a handful of
large financially strong laboratories were able to offer such tests.
As with previous Clinical Chemistry Forums, the topic had a timely
message. Genetic testing is evolving rapidly; however, not all the
safeguards to protect patients are in place today, and there is a real
need to orchestrate responses to the very diverse issues in such a way
that society reaps the maximum benefit of this challenging new
direction in clinical laboratory testing.
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Footnotes
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University of Pennsylvania Medical Center, Department of Pathology and Laboratory Medicine, 3400 Spruce Street/Founders 7, Philadelphia, PA 19104-4283.
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References
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Leonard DGB. The future of molecular genetic testing. Clin Chem 1999;45:726-731.
[Abstract/Free Full Text]
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Holtzman NA. Promoting safe and effective genetic tests in the United States: work of the Task Force on Genetic Testing. Clin Chem 1999;45:732-738.
[Abstract/Free Full Text]
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Schwartz MK. Genetic testing and the Clinical Laboratory Improvement Amendments of 1988: present and future. Clin Chem 1999;45:739-745.
[Abstract/Free Full Text]
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Gutman S. The role of Food and Drug Administration regulation of in vitro diagnostic devices—applications to genetics testing. Clin Chem 1999;45:746-749.
[Abstract/Free Full Text]
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Merz JF. Disease gene patents: overcoming unethical constraints on clinical laboratory medicine. Clin Chem 1999;45:324-330.
[Abstract/Free Full Text]
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Introduction
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