The following documents were not officially endorsed by the ESHG, but are put on the ESHG website as a service to the human genetics community. Comments are welcome
This report explores ethical issues arising from current and possible future uses of non-invasive prenatal testing (NIPT). It considers views and evidence gathered from a wide range of people and organisations, and from the academic literature. It sets out the potential implications of this technique for prenatal screening and testing for a range of genetic conditions and variations both in the NHS and in the private sector.
The European Commission's Joint Research Centre (JRC) published the final report of the GENTEE project, entitled "Genetic Testing in Emerging Economies", which represents the first worldwide effort to systematically survey and assess the current state of medical genetic services in emerging economies . The pdf is available at:
Shorter versions of single country reports were published in a special issue "CAPABILITY and "Genetic Testing in Emerging Economies (GenTEE)" of the Journal of Communiy genetics ( Volume 4 Number 3 July 2013).
The lay summary of the latest report of the European Academies Science Advisory Council (EASAC) and the Federation of European Academies of Medicine (FEAM) entitled "Direct-to-Consumer genetic testing for health-related purposes in the European Union" has been released.
Following the workshops and talks on 'Array in daily practice: promises and pitfalls' held at the ESHG Symposium in 2011, six papers were produced. These six papers on microarrays are now available to download free of charge from the Human Mutation website using this link:
- The use of arrays to detect copy-number variations in clinical practice (page 905)
- Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics (pages 906-915)
- Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent (pages 916-922)
- The introduction of arrays in prenatal diagnosis: A special challenge (pages 923-929)
- Diagnostic interpretation of array data using public databases and internet sources (pages 930-940)
- Genome-wide arrays in routine diagnostics of hematological malignancies (pages 941-948)
Official responses to the Public consultation on the revision of Directive 98/79/ec of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices
- European Society of Human Genetics
- EuroGentest Network of Excellence in Genetic Testing
- Multidisciplinary Joint Committee Clincial Genetics of the European Union of Medical Specialists (MJC-CG-UEMS)
- British Society of Human Genetics
How seriously should we take risk predictions for Multifactorial Illnesses?
Proposed for discussion by F. Clerget-Darpoux and A. Cambon-Thomsen
The progress made by geneticists over the last three decades with regards to disease aetiology has been tremendous. In particular, aetiological heterogeneity has been shown for many common diseases with evidence for monogenic sub-entities (Alzheimer's disease, Parkinson's disease, diabetes, breast cancer, colon cancer etc.). Using molecular biology, genes involved in the monogenic forms of diseases have been identified, allowing their molecular diagnosis, better understanding of their physiopathology and research into new therapies...
You are invited to discuss the document on the ESHG discussion board (you will need to login as a member in order to see the link).
Questions and Answers document on Gene therapy
The European Medicines Agency has published a Questions and Answers document on Gene therapy (EMA/CHMP/GTWP/212377/2008), which is available on the following webpage:
This document will be regularly updated on the basis of received comments and questions. Should you have any, please send them to GTWPsecretariat(at)ema.europa.eu
UK House of Lords Science and Technology Committee report
The UK House of Lords Science and Technology Committee reports that genomic medicine is already in practice but needs a coordinated set of infrastructural and training systems to allow the healthcare system to cope.
In vitro Diagnostics (IVD) Directive of the EU Commission
Professor David Melzer from the University of Exeter and Stuart Hogarth from the University of Loughborough, have drafted a briefing, with the support of EuroGentest, which outlines a series of issues in the In Vitro Diagnostics (IVD) Directive of the EU commission which need to be addressed if it is to deliver systematic, independent pre-market evaluation of the growing number of commercial genetic tests entering the European market. Furthermore, regardless of whether there is support for the approach proposed, many of these issues still need to be addressed, as they are sources of ambiguity which require clarification.
Of course, some level of confusion and ambiguity is inevitable with any new piece of legislation. This seems a particularly opportune moment to consider both the issues which require clarification, and other ways in which the Directive might be enhanced: the Directive is well-established in the member states; the Commission is now holding a public consultation on possible revision of the Directive.
This briefing was presented to al the Competent Authorities in the European Union at their meeting in Lisbon in July 2007. The briefing received a favourable reception and the Competent Authorities issued the following statement: "The meeting emphasised the need for European CA`s to permanently monitor the development of new and emerging medical technologies and the appropriateness of the existing regulation. With regard to genetic testing a critical review on existing European legislation will be requested."
The ESHG Executive Committee finds this draft briefing important. We are now asking ESHG membership to tell their possible comments and suggestions which can be emailed to Stuart Hogarth at s.j.hogarth(at)lboro.ac.uk.
Access the document
Clinical Indications for Genetic Testing
Unit 3 of EUROGENTEST has developed "points to consider" regarding clinical indications for genetic testing (Javaher et al. , Comm Genetics 2008; 11:75-120 - see page 118). The German Society of Human Genetics has endorsed these recommendations and started a process of developing disease-specific "indication criteria (=clinical utility gene cards)" for genetic testing, which can be found on its website www.gfhev.de. In their current format and content they are intended to provide quick guidance to referers, service providers and payers. They still lack, for instance, references to primary and secondary literature. The EUROGENTEST Steering Committee has decided to re-locate this activity to the European level. In a first step, the German guidelines, in an English translation, will temporarily be put onto the EUROGENTEST and the ESHG websites, and we are inviting for commentaries from the scientific community. In a second step, the guidelines will be re-edited so as to receive a format and contents that makes them suitable for publication in the European Journal of Human Genetics.
More information- update
Comments should be sent to Prof. Jörg Schmidtke:
Guidelines for Human Biobanks and Genetic Research Database - OECD Consultation
OECD has launched public consultation on the draft Guidelines for Human Biobanks and Genetic Research Databases Deadline for comments: May 16, 2008
The OECD has been working on developing Guidelines for Human Biobanks and Genetic Research Databases (HBGRDs). The draft Guidelines are intended to assist both OECD member countries and non-OECD economies in the development of policies applicable to HBGRDs.
These draft Guidelines offer principles and best practices for and are targeted at all those involved in the establishment, governance, management and use of human biobanks and genetic research databases. They aim to provide guidance on legal, administrative, financial, institutional and social aspects.
Now public consultations concerning the draft Guidelines have been launched. The public consultations will run until Junly 15, 2008. The text of the draft Guidelines is accessible on the OECD web site. Comments may be submitted also via email at: hbgrd.guidelines(at)oecd.org
Consultation closed. Comments are available online.
International Principles for direct-to-consumer genetic tests - produced by the Human Genetics Commission
The Human Genetics Commission, the UK Government's advisory body on developments in genetics and their ethical, legal, social and economic implications, has launched today a 'Common Framework of Principles' for direct-to-consumer genetic testing services. The Principles can also be downloaded from the HGC website at http://www.hgc.gov.uk/Client/document.asp?DocId=280&CAtegoryId=10.
These Principles, which are applicable in different jurisdictions, have been developed in conjunction with representatives from the international genetic testing industry and represent a high level of consensus about what constitute good practice. They offer a guide to consumers, as well as service providers and regulators, about the elements that should make up a good quality direct genetic testing service.
If you have any questions regarding the Principles or wish to comment on the content of the Principles please email DTCPrinciples(at)dh.gsi.gov.uk.