The European Society of Human Genetics

is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.



The winners of the DNA Day 2015 Essay Contest have been announced!

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ASHG and ESHG Issue Position Statement on Non-Invasive Prenatal Screening

Two of the world’s largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus. The document addresses the current scope of and likely future improvements in NIPT technology, ways it may best fit with existing prenatal screening tools and protocols, options and priorities in its implementation, and associated social and ethical issues.

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Sequencing technologies generate data on the entire sequence of the human genome for a decreasing price at increasing speed. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts.

The ESHG has issued recommendations.

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Programme, online registration and hotel booking are now available at:


Glasgow, UK (Scotland), June 5-6, 2015 - Official Satellite to ESHG 2015

Principal Themes: ‘Human Gene Mapping’ and ‘Oral History of Human Genetics’

Abstract submission is open!

Click here for more information and call for abstracts


This leaflet gives patients information about genetic tests that target many different genes at once. The information may help you to decide whether or not to have the test and help you to understand the results.

Download leaftlet


We wish to thank over 3,000 participants and over 130 exhibitors and their staff for having attended the ESHG Conference in Milan.
We hope to see you in Glasgow in June 2015.

View the 3 plenary lectures from Tuesday, June 3 via web-cast:

- Building Bridges Session on Incidental Findings (joint with ASHG & EMPAG)
- Mendel Lecture
- ESHG Award Lecture

Access the streaming

Videos are now available as on-demand download.


Recent amendments to the proposed Regulation on In Vitro Diagnostic Medical Devices (IVDs) currently before the European Parliament will restrict the rights of patients and doctors to carry out essential genetic testing, says the European Society of Human Genetics (ESHG) today (Monday 7 April 2014). Furthermore, an independent legal opinion now shows that the European Union (EU) has no competence to enact the Regulation as amended by the Parliament.

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The US Food and Drug Administration has sent a warning letter to the genetic testing company 23 andMe ordering them to cease marketing their direct-to-consumer test kit with immediate effect. The test has already been used by around half a million people.

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In a letter published in the journal Science on 30 August, Professor Martina Cornel, chair of the Professional and Public Policy Committee of ESHG and colleagues call for restraint in the use of diagnostic testing based on whole-genome sequencing.
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The decision by the US Supreme Court to rule that human genes cannot be patented has important implications for patients and for science.

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Download the ESHG Position Statement on the Inclusion of an Article on Genetic Testing in the Proposed Regulation on in-vitro Diagnostic Devices.