The European Society
of Human Genetics

ESHG Documents

ESHG or ESHG endorsed Documents

NIPT

NIPT - Background document including Recommendations:
Dondorp W, De Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, et al, on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015;23:1438-1450. 

NIPT - Summary and Recommendations:
Dondorp W, De Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, et al, on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet advance online publication 1 April 2015; doi: 10.1038/ejhg.2015.56

Background document and Recommendations concerning genetic testing and common disorders

The Background Document on ”˜Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities' has been published in the European Journal of Human Genetics 2011;19:S6-S44. Click here

The Recommendations of the ESHG on ”˜Genetic testing and common disorders in a public health framework' have been published in the European Journal of Human Genetics 2011;19:377-81. Click here

European Society of Human Genetics. Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics. (Cornel M as collaborator) Eur J Hum Genet. 2009 Jun;17(6):720-1. Click here

Expanded carrier screening

Responsible implementation of expanded carrier screening – Background document including Recommendations of the European Society of Human Genetics
Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B, on behalf of the European Society of Human Genetics. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016;24:e1-e12.

Responsible implementation of expanded carrier screeningSummary and Recommendations:
Henneman L, Borry P, Chokoshvili D et al: Responsible implementation of expanded carrier screening: Summary and recommendations of the European Society of Human Genetics. Eur J Hum Genet 2016; 24: 781–783.   

Genetic testing in asymptomatic minors

The European Society of Human Genetics published Background considerations towards ESHG Recommendations on genetic testing in asymptomatic minors in the European Journal of Human Genetics 2009; 17: 711 - 719. Click here

In addition the Recommendations on genetic testing in asymptomatic minors were published in the European Journal of Human Genetics 2009; 17:720-1. Click here 

Recommendations: Whole-genome sequencing in health care

The recommendations of the European Society of Human Genetics on Whole Genome Sequencing in the European Journal of Human Genetics (2013) 21, 580–584; doi:10.1038/ejhg.2013.46

View document

Background document and Recommendations concerning genetic testing and common disorders

  

The Background Document on ”Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities" has been published in the European Journal of Human Genetics 2011;19:S6-S44. Click here

The Recommendations of the ESHG on ”Genetic testing and common disorders in a public health framework" have been published in the European Journal of Human Genetics 2011;19:377-81. Click here

Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics. (Cornel M as collaborator) Eur J Hum Genet. 2009 Jun;17(6):720-1. Click here

Genetic testing in asymptomatic minors

The European Society of Human Genetics published Background considerations towards ESHG Recommendations on genetic testing in asymptomatic minors in the European Journal of Human Genetics 2009; 17: 711 - 719. Click here

In addition the Recommendations on genetic testing in asymptomatic minors were published in the European Journal of Human Genetics 2009; 17:720-1. Click here 

Letter to the Presidents of National Human Genetics Societies on EU-wide recognition of our specialty: update and next steps

Guidelines on training for genetic specialists

In 2002 ESHG set down an ad hoc committee on the recognition of clinical genetics as an European speciality. During this process a collaboration with the European Union of Medical Specialists (UEMS.net) led to the development of a document outlining the qualifications needed to obtain the speciality, and the establishment of a Multidisciplinary Joint Committee Clinical Genetics in UEMS with representatives of the ESHG ad hoc committee as members. The guidelines, which previously, after discussions with the chairs of the national societies at several meetings during ESHG meetings, had been endorsed by ESHG and, finally, this year by the Boards and Sections and the Council of UEMS.

The endorsed guidelines can be found here.

Please contact Dr Ulf Kristoffersson

Recommendations for Patenting and licensing in genetic testing: ethical, legal and social issues

  • The European Society of Human Genetics (ESHG) wants to involve the genetics community in the analysis of, and the discussions on, the practical, political, societal, ethical and economical aspects of patenting and licensing of genes, sequences and genetic tests. More

Recommendations for genetic counselling related to genetic testing - new

  • Eurogentest has prepared Recommendations for genetic counselling related to genetic testing. The recommendations were written by Eurogentest Unit 3 partners and experts, circulated for comments and endorsement among ESHG membership and European National Human Genetic Societies and finally sent to ESHG Board for endorsement.
    The recommendations can also be found on the Eurogentest website.

Core competences in genetics for health professionals in Europe - update

Recommendations on the following topics are available in the European Journal of Human Genetics

  1. Patenting and licensing in genetic testing: ethical, legal and social issues - More
  2. Provision of genetic services in Europe: current practices and issues - More
  3. Population genetic screening programmes: technical, social and ethical issues - More
  4. Data storage and DNA banking for biomedical research: technical, social and ethical issues - More
  5. Genetic information and testing in insurance and employment: technical, social and ethical issues - More
  6. The need for interaction between assisted reproduction technology and genetics (Recommendations) - More
  7. The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues (Background Document) - More

Draft Background Documents

  1. Polymorphic sequence variants in medicine: Technical, social, legal and ethical issues Pharmacogenetics as an example (Draft Background Document) - More

ESHG response to the European Parliament Report on the ethical, legal, economic and social implications of human genetics.

ESHG response to the European Parliament Report on the ethical, legal, economic and social implications of human genetics.

To top

Official response of the European Society of Human Genetics 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

This response is based on the official response that has been elaborated within EuroGentest and that has as well been submitted as an official response to the public consultation. This document was discussed within the PPPC of the ESHG and a few alterations were made, based on reactions of the members of the PPPC. The document was also approved by the members of the Board of the European Society of Human Genetics.

See also the official responses of