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Biotechnology and Life Sciences in Baden-Württemberg
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Committed contribution to scientific discussion
The latest research report from the Berlin-Brandenburgische Akademie der Wissenschaften (Berlin-Brandenburg academy of sciences) (BBAW) on the state of genetic diagnostics in Germany is perfectly timed. The 20 authors of the report have not simply limited themselves to a bland representation of the issues, but they have “addressed the socio-political dimensions and debates”. This frequently takes them beyond German borders and gives a wider view on what is often a German-centred debate on genetic testing.
The book lives up to the academy’s own expectations, depicting a science rooted in a society that wishes to research future problems, it promotes the dialogue with all levels of society and identifies the need for political action. An example of the latter is when it conclusively argues for the fact that under certain circumstances it makes sense to authorise pre-implantation diagnostics (PID), which is currently banned by law. Another example is the debate on the alleged special status of genetic information, a situation that scientists themselves do not recognise.
Policy guidelines
Barring a subject index, the reader gets everything: a clear, coherent structure, numerous cross-references and comments providing further information. Besides the introduction, all twelve articles can be read separately. The BBAW interdisciplinary work group has also included a synopsis with main points and recommendations for action that precedes the twelve articles partly as an introduction for readers, but also as a guideline for policy makers.
Which mutations cause diseases?
Offers an evaluation of genetic diagnostics in Germany in 200 pages. (Photo: BBAW)
Gene chips such as array CGH along with revolutionary sequencing techniques are constantly improving the ability to be able to determine genotypes faster, more specifically and more cost-effectively. This is increasingly facilitating the clarification of genetic diseases and their diagnosis. Yet according to Hans-Hilger Ropers and Reinhard Ullmann (Max Planck Institute for Molecular Genetics) the biggest challenge is still ahead of us: the differentiation between disease-causing sequence variations and functionally neutral changes. For this challenge, large studies in major clinical genetic centres, something that this country currently lacks, are necessary and are being called for by the academy.
The attorneys Jürgen Simon and Jürgen Robienski are proposing a comprehensive provision relating to research on humans rather than a law on genetic diagnostics that would promote a “genetic exceptionalism”. They believe that the law that is currently under discussion should also take the issue of biobanks into account.
The attorneys Jürgen Simon and Jürgen Robienski are proposing a comprehensive provision relating to research on humans rather than a law on genetic diagnostics that would promote a “genetic exceptionalism”. They believe that the law that is currently under discussion should also take the issue of biobanks into account.
Curbing the desire for data
The issue of biobanks is becoming increasingly significant in the research field. (Photo: VDGH, Bioscientia)
Forensic molecular genetics is an international discipline that is generally accepted. Scientists and the organisations that support them need to address the issue of the criminal investigations authorities’ requirement for data that could act as a propulsion for softening the severe rules on DNA analysis, urges Lutz Roewer (Institute of Legal Medicine, Charité Berlin). Thus an excessive amount of saliva samples are being taken for minor offences. While the technology, which is entirely reliable, does not need to be more thoroughly monitored, the expansion of databases containing information on individuals does. As Roewer points out, there is currently no independent authority to evaluate database activity relating to the type and number of crimes solved using DNA analysis. According to Roewer, the largest private world market for genetic testing is the determination of a person’s bio-geographic origin.
Constitutional right to PID
The human geneticist Karl Sperling (Charité) seeks the deregulation of the de facto forbidden PID. After extensive discussion of its possibilities compared to prenatal diagnostics, Sperling draws on the recommendations of the Rhineland-Palatinate bioethics commission (2006). According to these recommendations, expectant parents have a constitutional right to receive information on the medical and genetic risks for the embryo. His suggestion is based on cases of high genetic risk.
Surveys from the viewpoint of healthcare economics
Genetic tests that offer the early detection of a disease and its risks prevent suffering, early death and save on healthcare costs. Applied in screenings, they are of vital importance to healthcare economics, write the two healthcare economists Wolf Rogowski and Astrid Langer (GSF Neuherbeg). Screenings are advisable when diseases or disease risks are common or have dire consequences. There are good diagnostic tests that are minimally invasive and lead to effective intervention possibilities. The efficiency of genetic screenings is not yet totally clear, and it has only been determined for few indicators. Tests for familial adenomatous polypose and retinoblastoma have proven to be cost-effective.
At what point does a risk justify a genetic test?
The clinical evaluation of genetic tests is currently only possible in very few cases, especially as the mutation spectrum of many diseases can only be partially detected, explain Javaher Poupak and Jörg Schmidtke (Institute for Human Genetics, Hanover Medical School). While genetic tests can capture an increasing number of diseases, “the number of analysable samples per disease is usually extraordinarily small.”
The authors believe that evaluation standards will be developed for common diseases. Yet the idea of determining the risk level of contracting a disease is unlikely to go any further, given the unsustainable level of cost that a genetic test represents for a nationally funded healthcare system. Another irresolvable issue is the extent to which the psychosocial consequences of a hereditary disease would influence the efficiency of genetic tests.
The authors believe that evaluation standards will be developed for common diseases. Yet the idea of determining the risk level of contracting a disease is unlikely to go any further, given the unsustainable level of cost that a genetic test represents for a nationally funded healthcare system. Another irresolvable issue is the extent to which the psychosocial consequences of a hereditary disease would influence the efficiency of genetic tests.
Demystification of genes
Genetic information is as significant as other sensitive medical data. This is a view shared by the majority of scientists, but not by the general public. The general public sees this type of information as mystically related to the “core of human character”. The three authors Brändle, Reschke and Wolff present a conclusive and useful “meta-analysis of the debate on genetic exceptionalism”, comparing it to similar developments in the public understanding of AIDS, which initially had exceptional status and has now become normal.
Public health versus personal freedom?
Is the individual threatened by government paternalism in times of diminished healthcare funds and rapid knowledge gains in human genetics and growing possibilities for prevention? Wolfgang van den Daele (formerly of the Social Science Research Centre) believes this unlikely to happen in constitutional states like ours. Yet he does think that “there is a likelihood that strategies to determine individual risk may be actively ‘forced’ onto the public who will be strongly urged to undergo genetic examinations where it is deemed useful”. However, as long as ’voluntary approval’ is largely given, based on the belief that the consensus seems to be that it is better to prevent diseases rather than treat them, the coercion card would not be played.
Ethical aspects of predictive genetic test regulation
Bert Heinrichs (German Reference Centre for Ethics in the Life Sciences) draws two conclusions: The individual will probably only be able to achieve his or her right to genetic information self-determination through governmental regulation, which does not exist through the current lack of regulation of a free market. Besides the key right to informational self-determination, predictive genetic tests also affect other basic rights. In situations where conflict exists a balance must thus be found between this right, the protection of psycho-physical integrity (both of those taking the test and others) and the requirement of non-discrimination.
Silke Domasch and Mathias Boysen round off this very detailed series of studies with a determination of the problem areas in the complex field of genetic diagnostics. Their overview, which takes on board the problem areas, theses and indicators, illustrates the complexity of the four dimensions - social, economic, ethical and scientific.
Silke Domasch and Mathias Boysen round off this very detailed series of studies with a determination of the problem areas in the complex field of genetic diagnostics. Their overview, which takes on board the problem areas, theses and indicators, illustrates the complexity of the four dimensions - social, economic, ethical and scientific.
Balancing act between test and consultation
While the number of genetic tests is growing, the number of consultations is decreasing. (Photo: VDGH, Wille)
Mathias Boysen, Brigitte Pabst and Jörg Schmidtke have gathered and categorised a plethora of data, and transferred them to tables and diagrams. Boysen shows that German scientists have identified nine out of 100 “disease genes” between 2000 and 2006, and that 80 per cent of research is carried out at universities.
Pabst and Schmidtke provide a great deal of data on the number and type of genetic tests and the number of genetic consultations taken by the public in Germany. They conclude that although a growing number of genetic tests are carried out, the number of consultations sought is decreasing. Consultation is only refunded by statutory health insurance when part of family planning or prenatal care. Comprehensive genetic consultation is only partially refundable, which does not cover the costs.
While the present publication does not cover all the developments in genetic diagnostics, it highlights the most current, important developments with scientific diligence, it cites specific problems and offers solutions. It is a point of reference for both the public and political debates and thus it remains to be hoped that it will reach a wide readership.
wp - 03.10.2007
© BIOPRO Baden-Württemberg GmbH
Pabst and Schmidtke provide a great deal of data on the number and type of genetic tests and the number of genetic consultations taken by the public in Germany. They conclude that although a growing number of genetic tests are carried out, the number of consultations sought is decreasing. Consultation is only refunded by statutory health insurance when part of family planning or prenatal care. Comprehensive genetic consultation is only partially refundable, which does not cover the costs.
While the present publication does not cover all the developments in genetic diagnostics, it highlights the most current, important developments with scientific diligence, it cites specific problems and offers solutions. It is a point of reference for both the public and political debates and thus it remains to be hoped that it will reach a wide readership.
Literature:
Berlin-Brandenburgische Akdademie der Wissenschaften (Ed.), Gendiagnostik in Deutschland. Status quo und Problemerkundung. Supplement zum Gentechnologiebericht, Berlin 2007 (ISBN 978-3-940647-00-9)
wp - 03.10.2007
© BIOPRO Baden-Württemberg GmbH
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