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EMBL/EMBO Joint Conference 2000

Jens Reich, Max-Delbrück Centre and Humboldt-University (Charité), Berlin, Germany

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).

Abstract

Medical uses of genetic information: Gene therapy, prenatal diagnostics, and population genetics

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, physiologicalSþ) 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.