Clinical Chemistry 45: 915-926, 1999;
(Clinical Chemistry. 1999;45:915-926.)
© 1999 American Association for Clinical Chemistry, Inc.
Issues in Genetic Testing
Donald S. Younga and
Debra G.B. Leonard
Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, 3400 Spruce St., Philadelphia, PA 19104-4283.
a Author for correspondence. Fax 215-349-5090; e-mail donaldyo@mail.med.upenn.edu.
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Introduction
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"Issues in Genetic Testing" was the theme for the Eighth Clinical
Chemistry Forum of the American Association for Clinical Chemistry. The
2-day meeting was held in Arlington, Virginia, on November 3 and 4,
1998, and was jointly sponsored on this occasion by the Association for
Molecular Pathology. Manuscripts of five of the meeting presentations
have already been published in their entirety (1)(2)(3)(4)(5). The
following is a summary of the remaining papers presented at the
meeting.
The opening presentation by Bradley W.
Popovich, PhD, Director, DNA Diagnostic Laboratory, and Director,
Clinical Genetic Services Laboratory, Oregon Health Sciences
University, set the background for the conference by describing the
evolution of DNA diagnostic testing. DNA tests generally are extremely
accurate, minimally invasive, and cost-effective. Many hundreds of
genetic conditions are already diagnosed through DNA testing. The
number and variety of genetic tests will expand rapidly as an outgrowth
of the Human Genome Project.
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Text
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differences between genetic and traditional laboratory tests
Those who provide genetic counseling need to understand that DNA
tests often require biological specimens from both the patient and
other biological relatives, which clearly differentiates genetic
testing from other tests. The information gained from DNA testing will
not only be used by the physician to manage the patient's treatment or
care, but also has implications for other family members. Genetic tests
can detect a predisposition to a disease, a condition that may or may
not occur. Other genetic tests detect presymptomatic disease, a
condition that is already present but whose symptoms have not yet
developed.
Three methods predominate genetic testing: Southern blot analysis, PCR,
and DNA sequencing. Southern blot analysis has been used since the
early 1980s, but it is extremely labor-intensive and the turnaround
time is ~1 to 2 weeks. The cost is between $250 and $500 . . . [Full Text of this Article]
role of the human genome project
consequences of genetic testing
informed consent
state legislation
federal legislation
federal legislation
state laws
pending federal legislation
clia and genetic testing
profitability of genetic testing
paying for genetic tests
obtaining reimbursement from third-party payers
the human genome
mapping the genome
yeast artificial chromosomes
timetable for the human genome project
gene and disease associations
acceptance of genetic tests
historical background of ethical issues
institutional review boards
ethics and identification
definition of a human subject
essentials for human studies
definition of genetic tests
future considerations
the concept of duty
patenting of genes
obtaining a patent and challenging a patent
court responses to infringements of patents
Summary
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Footnotes
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References
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Copyright © 1999 by the American Association for Clinical Chemistry.
