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1st
EMBL/EMBO Joint Conference 2000 |
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Session
II |
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Medical uses of genetic information Gene therapy, prenatal diagnostics, and population genetics |
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Jens Reich [Chair], Division of
Genomic Informatics, Max-Delbrück Centre and Humboldt-University
[Charité], Berlin, Germany
In order to sketch the main problems in the field as described by
the session topic, I find it useful to distinguish [in a somewhat
unorthodox manner] between genomics and phenomics. Genomics deals
with the structure and organization of the information package the
transmission of which is absolutely indispensable for begetting a
new generation of human beings. Phenomics deals with the processing
of this information in a network of interacting genetic, epigenetic
and environmental factors. As a contrast to the situation of the previous
century, we are now able to establish genomic facts much more accurately
than the resulting phenomena. I envisage the following main problems
to be tackled in future:
The formidable multiplicity and interaction complexity of gene
products required for the development of the human organism and
for the functioning of cells and organs.
Genomic information processing is organized and regulated as a
complex network with multiple feedback and feed-forward loops. This
renders standard cause-effect reasoning useless, at best a very
simple approximation [although up to now the most successful one].
The enormous individual genetic diversity of genomic information
raises numerous new problems of how to sort out what is important
and what is irrelevant for medical problems.
Most important, the phenomena [anatomic, biochemical, physiologicalSf]
have up to now been categorized by concepts largely ignorant of
the genomic background. Therefore the traditional phenotype ["what
we see"] has to be re-conceptualized in terms of the underlying
information input. We will need new sub-phenotypes, phenotypes and
perhaps disease definitions. The conundrum is circular: The knowledge
on the genomics-phenomics relationship that we seek requires just
such knowledge as presupposition.
In the meantime, urgent sociopolitical measures are required to
prevent premature application and misuse of genomic knowledge in
the field of diagnostics and therapy.
Biography
Jens Georg Reich, MD, studied from 1956-62 and graduated at
Humboldt University of East Berlin. His medical dissertation
[1964] was on "Studies on arterial murmurs". From 1962-64
he worked in internship and as a practitioner in Halberstadt
[GDR]. Apart from the clinical work he studied the electrolyte
metabolism of man in normal and pathological conditions and
published several papers. From 1964 until 1968 he worked in
experimental biochemistry at Prof. Frunder's institute in
Jena. From this period resulted studies and publications on
glycolysis and its regulation in liver and blood. From 1968
on he worked at the institute of molecular biology at the
Academy of Sciences of GDR in the field of computer modelling
and biomathematics. Part of the time was spent in close cooperation
with Dr. Evgeni Sel'kov in Pushchino [USSR]. Apart from original
research papers a co-authored monograph resulted: "Energy
Metabolism of the Cell" [Academic Press, London 1981].
Jens Reich served for more than 20 years on the Advisory Board
of the "European Journal of Biochemistry". For eight years
he was co-editor of that journal. Since 1981 he worked in
the field of genomic and macromolecular sequences and related
data bases, and now works in the division of genomic informatics
of the Max Delbruck Center in Berlin-Buch [Germany].
He is coordinating several research projects on computer analysis
of genes and genomes in the framework of the German Human
Genome Programme and of Biomed-Programme of EU. Apart from
this he is active in the German public sphere with contributions
to the aims, achievements and risks of human genomics with
respect to societal, ethical and legal consequences. In this
function he is also active in the committee on Bioethics of
the German Physicians1 Association [Bundesärztekammer]. |
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