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 ESHG PPPC invites you to comment on the accompanying draft document:

Responsible implementation of expanded carrier screening. Recommendations of the European Society of Human Genetics

Your comments on this document are most welcome and should be sent before March 15, 2015 by email to
Prof. Borut Peterlin MD PhD borut.peterlin(at) and cc to
Carla van El PhD cg.vanel(at)

Thanking you for your attention and effort!

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The Annual Rare Disease Day is celebrated on February 28, 2015. The slogan of the Rare Disease Day this year is “Living with a Rare Disease: Day-by-day, hand-in-hand" underlining the importance of solidarity and collaboration in the field of rare disorders. There are between 6000 and 8000 rare diseases. On the whole, rare diseases may affect 30 million European Union citizens creating a significant public health problem. 80% of rare diseases are of genetic origin, and are often chronic and life-threatening. Most rare diseases have no cure, so the art of living with a rare disease is an ongoing learning experience for patients and families.
See more and get involved: 


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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GeneWatch UK today warned members of the public that they could be misled about their health if they buy gene tests online. US company 23andMe, which is part-funded by Google, is understood to be launching its gene test service in the UK this week.

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


The 2015 questions of the DNA Day Essay Contest have been announced and submission is open.

Check the website


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.