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Wenn die Zukunft in den Genen liegt.
Chancen und risiken von nicht-invasiven Pränataltests.

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Study «Prenatal Genetic Diagnostics»

Introduction Procedure | Results / Downloads | Events | Contacts | Links

Introduction

What is prenatal genetic diagnostics?

New methods of genome analysis make it possible to determine from the blood of a pregnant woman whether any pathological genetic abnormalities are present in her child. It is therefore now comparatively simple to obtain data on an ever increasing number of genetic characteristics of the unborn child. Up to now it has been necessary to carry out invasive tests for that purpose, most of which were only done because it was suspected that the child had some malformation.

Opportunities and risks of prenatal genetic diagnostics

Initial experiences indicate that the new non-invasive method of genetic diagnostics is very reliable, and also that the risks to the foetus that are concomitant with an invasive test, such as amniocentesis, are eliminated. It offers a safer alternative to the previous tests in respect of chromosomal anomalies. The new types of tests are already on the market. In Switzerland, they are only performed on medical prescription. They are, however, also available on the internet without a medical prescription – from foreign firms.

Why conduct a TA-SWISS study on this subject?

There are outstanding issues associated with wider use of the new tests, and the growing number of disease risks that can be investigated with them. In purely technical terms, it is possible to decode the complete genome of an unborn child. Corresponding genome analysis has recently become feasible on in-vitro embryos for pre-implantation diagnostics (PID). The importance of the subject will continue to grow because of the very rapid advances in genome analysis. But which tests are meaningful? How do those affected deal with the information? How will the consultation be safeguarded?

Aims of the study

The interdisciplinary study aims to evaluate the opportunities and risks of prenatal genetic diagnostics. An overview should indicate which tests are already available, which are being tried out, which areas of application are conceivable for the future and what social, ethical, legal and economic issues are associated with such tests. Examples of applications include genetic diagnostics in the blood of pregnant women and also – in connection with pre-implantation diagnostics (PID) – genetic diagnostics on the pre-implantation embryo or polar body diagnostics.

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Procedure

Method

Sub-project 1: In the medical-technical part of the study, an overview of prenatal genetic tests will be drawn up with an assessment of their quality (safety and significance) and information about their areas of application. The overview will take the form of a specialist review article and based on research of the relevant specialist literature and in the appropriate databases.

Sub-project 2: Investigation of the social issues is based on the evaluation of various written documents on the subject (social science literature, media reports) and includes a stakeholder analysis. Interviews will also be conducted with representatives of groups directly involved in prenatal diagnostics.

Sub-project 3: The economic part of the study assesses the results of sub-project 1 with regard to the development of the product. Interviews are also planned with providers, as well as an analysis of price trends, and scenarios will be drawn up on the distribution and cost implications of prenatal genetic tests for the mutually supportive community.

Sub-project 4: The handling of legal and ethical questions is based on the analysis of relevant specialist literature and takes the results of sub-projects 1 to 3 into account.

A moderated workshop is planned for the overall assessment, in which the results of all sub-projects will be assessed on an interdisciplinary basis. Based on this, recommendations will be formulated covering the medical-technical, social, economic, legal and ethical implications.

Timetable
Begins June 2014, completion end of 2015

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Events

Available on completion of project

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Contacts

Supported by

  • Centre for Technology Assessment TA-SWISS
  • Commission for Technology and Innovation CTI
  • National Advsory Commissio on Biomedical Ethics (NEC)
  • Swiss Academy of Medical Sciences

Persons participating

TA-SWISS Project Supervisors

  • Dr Adrian Rüegsegger, TA-SWISS (E-Mail)

Project mandataries

  • Dr Susanne Brauer (Projektleiterin), Brauer & Strub │ Medizin Ethik Politik, Zurich
  • Dr Jean-Daniel Strub, Brauer & Strub │ Medizin Ethik Politik, Zurich

In collaboration with:

  • Dr. Barbara Bleisch, Centre for Ethics, University of Zurich
  • Dr. Christian Bolliger, Büro Vatter AG, Politikforschung & -beratung, Bern
  • Prof. Dr. Andrea Büchler, Institut of Law, University of Zurich
  • Dr. Isabel Filges, Medizinische Genetik, Universitätsspital Basel
  • Prof Dr. Peter Miny, Medizinische Genetik, Universitätsspital Basel
  • Anna Sax, Tradig GmbH für transdisziplinäre Analysen im Gesundheitswesen, Bern
  • Prof. Dr. Sevgi Tercanli, Ultraschallpraxis Freie Strasse, Basel
  • PD Dr. Markus Zimmermann, Department of moral theology an ethics, University of Fribourg 

Supervisory group

  • Prof. Dr. med. Giatgen Spinas, University Hospital Zurich, Chair of the supervisory group
  • Dr. Hermann Amstad, Swiss Academy of Medical Sciences SAMS, Basel
  • Cristina Benedetti, Commission of Experts for Genetic Testing on Human Beings (GUMEK), Bern
  • Dr. Mathias Bürgin, Federal Office of Public Health (FOPH), Bern
  • Dr. Elisabeth Ehrensperger, National Advsory Commission on Biomedical Ethics (NEC), Bern
  • Prof. Valérie Junod, Faculté de droit, Université de Genève
  • Prof. Christian Kind, Central Ethical Committee, SAMS
  • PD Dr. Olav Lapaire, Universitäts-Frauenklinik Basel
  • Dr. h.c. Moritz Leuenberger, Zurich
  • Dr. Fridolin Marty, economiesuisse, Zürich
  • Prof. Frank Mathwig, Schweizerischer Evangelischer Kirchenbund SEK, Bern, delegate of NEC
  • Olga Nikolayeva, Institute of Molecular Life Sciences, University of Zurich
  • Dr. Manfred Schawaller, Davos Diagnostics AG, delegate of the Commission for Technology and Innovation (CTI)
  • Christa Schönbächler, Insieme Schweiz, Dachorganisation der Elternvereine für Menschen mit einer geistigen Behinderung, Bern
  • Franziska Wirz, Appella, Beratungsstelle Schwangerschaft und Pränataldiagnostik, Zurich 

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Links

Zentrale Ethikkommission der Schweizerischen Akademie der Medizinischen Wissenschaften: Pränatales Screening auf Trisomie 21: Einsatz des Praena-Tests. Stellungnahme (2012)

Nationale Ethikkommission im Bereich der Humanmedizin: Die medizinisch unterstützte Fortpflanzung. Ethische Überlegungen und Vorschläge für die Zukunft. Stellungnahme Nr. 22 (2013)

Leopoldina – Nationale Akademie der Wissenschaften (D): Auf dem Weg zur perfekten Rationalisierung der Fortpflanzung? Diskussionspapier (2014)

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Project
Short Title: Prenatal Genetic Diagnostics
Long Title: Prenatal Genetic Diagnostics
Short Description: The interdisciplinary study aims to evaluate the opportunities and risks of prenatal genetic diagnostics. An overview should indicate which tests are already available, which are being tried out, which areas of application are conceivable for the future and what social, ethical, legal and economic issues are associated with such tests. Examples of applications include genetic diagnostics in the blood of pregnant women and also – in connection with pre-implantation diagnostics (PID) – genetic diagnostics on the pre-implantation embryo or polar body diagnostics.
Start: 2014
End: 2015
Partner Institutes:
Scope Countries:
Contact Person: Rüegsegger, Adrian
Home Page URL: en/projects/biotechnology-medicine/prenatal-genetic-diagnostics/
Focus: Biotechnology and medicine
Project Leader:
Other Members:

The project in brief

Up to now, certain prenatal tests have been associated with risks for the unborn child. Now, new diagnostics methods can be used to investigate the child’s genetic factors in the blood of the pregnant woman. As a result the foetus will not be endangered and statements on risks of disease and malformations of the child will be possible at an early stage. In future, such tests could be extended to many genetic characteristics – but how far should this «prenatal health check» go? In the study the present possibilities and implications of prenatal genetic diagnostics will be investigated.

Project: June 2014 - end of 2015

Products: Report and report summary

Project management: Dr Susanne Brauer, Brauer & Strub │ Medizin Ethik Politik, Zurich