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- Predictors of Response to Treatment in Neuropsychiatry
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iomedical research and practice is in the midst
of a profound transformation that is being driven by two
primary factors: the massive increase in the amount of
DNA sequence information; and the development of
technologies to apply the new information.The principal
aim of the Human Genome Project, namely the elucida-
tion of the approximately 3 billion base pairs (bps) of the
entire genome, has almost been achieved. In February
2001, the analysis of the first draft of the sequence was
published,
1
and this analysis provided the first great sur-
prise: the total number of protein-coding genes was
nearer to 35 000 than the previously estimated 100 000.
2
The finished sequence of five entire human chromosomes
(chromosomes 22, 21, 20, 14, and Y) has been published,
3-7
and for the 50th anniversary of the publication of the
structure of DNA by Watson and Crick
8
in April 2003, the
finished DNA sequence of the entire genome was made
available to the public by the International Human
Genome Sequencing Consortium (IHGSC) on the inter-
net. Over the past few years, more than 30 organisms
have had their genomes completely sequenced, with
another 100 in progress
9,10
and an at least partial DNA
sequence has been obtained for thousands of mouse and
rat genes. Consequently, we find ourselves at a time at
which new types of experiments are possible, and obser-
vations, analyses, and discoveries are being made on an
unprecedented scale. It can be expected that genetic con-
siderations will become important in all aspects of dis-
ease, be they diagnosis, treatment, or prevention.
Unfortunately, the billions of bases of DNA sequence do
not tell us what all the genes do, how cells work, how we
B a s i c r e s e a r c h
2 7
The future of genetic testing
for drug response
Deborah J. Morris-Rosendahl, PhD; Bernd L. Fiebich, PhD
Keywords:
genetics; drug response; single nucleotide polymorphism; DNA
Author affiliations:
Institute for Human Genetics and Anthropology,
University of Freiburg, Freiburg, Germany (Deborah J. Morris-Rosendahl); Department of Psychiatry, University of Freiburg, Freiburg, Germany (Bernd L. Fiebich)
Address for correspondence:
Deborah J. Morris-Rosendahl, PhD, Institute
for Human Genetics and Anthropology, University of Freiburg,
Breisacherstrasse 33, D-79106 Freiburg, Germany
(e-mail: morrisro@ukl.uni-freiburg.de)
B
The effect of variation in genes coding for drug targets
and for the enzymes involved in drug metabolism has
highlighted the genetic component of drug response.
Drug response can be likened to a complex, multifacto-
rial genetic trait, and the study of its genetic variation,
termed pharmacogenetics, is analogous to the study of
complex genetic disease in terms of the questions posed
and the analytical possibilities. Just as DNA variants are
associated with specific disease predispositions, so will
they be associated with individual response to certain
drugs. The testing for drug response is following the
same route as the genetic testing for inherited disorders,
and has reached the stage where genome-wide analy-
sis, as opposed to the analysis of single genes, is a real-
ity. In this article, we will discuss some of the technical
advances that facilitate such analyses, leading to faster
and more extensive diagnostic capabilities.
© 2004, LLS SAS
Dialogues Clin Neurosci
. 2004;6:27-37.
Copyright © 2004 LLS SAS. All rights reserved
www.dialogues-cns.org