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.



A personal statement from Christine Patch, President of the ESHG.


Next generation sequencing has revolutionised genetic testing in families with inherited cardiac disorders such as cardiomyopathy and long QT syndrome. Identifying pathogenic variants facilitates the appropriate management of such families. However, advances in genetic testing have also accelerated the identification of rarer variants in which the pathogenicity is less certain. The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have developed guidelines for the interpretation and classification of such variants. Identifying variants classified as class 3 (VUS) and class 4 (likely pathogenic) can have implications for both the clinician and the family.
Concerns have been raised amongst those who work in diagnostic genetic centres over the management of families in which class 3 and class 4 variants have been identified. Similar concerns have been raised for families where a variant has been re-classified following re-interpretation.
The Department of Clinic Genetics in Dublin, Ireland have created a short 2-4 minute survey which aims to gauge genetic counselling practices amongst an international community with regards to these complex cases. This data will help centres to reflect on their current practise and potentially work towards a unified approach to managing these families.
If you believe that someone else at your institution would be better placed to complete this survey, please feel free to pass it on to them.

Take the survey


Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice.

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The submission for the 2018 DNA Day Essay and Video Contest has openend. Submission is possible until April 25, 2018.

Check the website

"The use of new genetic technologies in human beings"

Please find the text here


ESHG welcomes Kuwait’s repeal of the DNA law

The repeal of the law mandating the collection of DNA from all Kuwaiti residents and visitors to the country is good for individuals concerned about their privacy and human rights, and for medical and scientific research in Kuwait and worldwide. The law as proposed would have been ineffectual in its stated purpose – fighting terrorism – and the simple existence of such a database could have been dangerous in the future, for example in the case of hacking or régime change. It could also have dissuaded people from voluntarily donating DNA for research purposes because of uncertainty as to the real purpose of such a collection, with serious consequences for progress in human genetics.

If the law had been brought into force, Kuwait would have been the first country in the world to require the compulsory collection of human DNA samples from all citizens. The Forensic Genetics Policy Initiative report, ‘Establishing Best Practices for Forensic DNA Databases’, published last week, says: "As countries develop legislation to govern DNA databases, it is important that civil society is engaged in the debate about what safeguards are needed to protect human rights."

We congratulate the Emir of Kuwait and the Constitutional Court on their willingness to listen to those expressing concerns about this, and hope that other countries that may be considering going down the same road will take note of this decision.

5 October 2017


The ESHG wishes to congratulate the "Gen-Equip Project" and ESHG Members Heather Skirton and Leigh Jackson for winning the European Health Award 2017 at the European Health Forum Gastein!

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European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics.

Explore a special collection of highlights

China holds the largest searchable DNA database in the world; genetic information from over 40 million individuals that is ostensibly to be used in the fight against crime. However, the way in which these data are collected and the protection given to providers leave much to be desired, according to the European Society of Human Genetics (ESHG).

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A Bill that would allow companies to require employees to undergo genetic testing and disclose the results to their employers, or risk having to make health insurance payments of thousands of dollars extra, was recently approved by the US House of Representatives Committee on Education and the Workforce. The European Society of Human Genetics (ESHG) defends the principle that employees should be employed on the basis of their skills and expertise, and not on their future health risks.

See the press release

As someone who has been extensively involved over the years with human genetics across Europe as a whole, as have many UK workers, I have seen how beneficial these links have been, not only for specific research collaborations but in developing medical genetics services. They have also led to many close personal links and friendships.

The recent disastrous (in my view) Brexit decision threatens to jeopardise and even sever at least some of these links...

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EURORDIS-Rare Diseases Europe, together with SWAN UK (the support group run by Genetic Alliance UK), the Wilhelm Foundation, Rare Voices Australia (RVA), the Canadian Organization for Rare Disorders (CORD), the Advocacy Service for Rare and Intractable Diseases' stakeholders in Japan (ASrid) and the National Organization for Rare Disorders (NORD) jointly submit a list of recommendations to address the specific needs of patients without a diagnosis urging all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.

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Press release: Geneticists welcome Kuwaiti decision to amend law on compulsory DNA collection

For immediate release: Wednesday 19 October 2016 Responding to the decision of the Emir of Kuwait to request the Kuwaiti Prime Minister to reconsider the scope of the law that would have imposed compulsory DNA testing on all residents as well as visitors to the country, Professor Olaf Horst Rieß, President of the European Society of Human Genetics (ESHG), said:

“This is a wise and responsible decision. The law as originally proposed was disproportionate and likely to be ineffectual in tackling the problem of terrorism, and would have had negative consequences not just for Kuwaiti society, but also for medical science and research.”

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Response to the decision of the Kuwaiti Constitutional Court

Responding to the decision of the Kuwaiti Constitutional Court to accept a challenge to the law that imposes compulsory DNA testing on all residents as well as visitors to the country, Professor Olaf Horst Rieß, ESHG President, said:
“We are delighted that the Court has agreed to hear the case against this law, which we regard as a disproportionate and ineffectual response to the problem of terrorism. The collection of DNA from individuals on this scale would constitute an assault on their right to privacy, would not aid in the fight against terrorism, and could also lead to the isolation of Kuwaiti scientific research and researchers. We hope for a positive outcome from the hearing on 21 December.”

Kuwait is the first country in the world to have introduced a law calling for the compulsory DNA testing of all its citizens, and also of all visitors, whatever their reason for entering the country. The ESHG is seriously concerned with the impact of this law on the right to privacy of individuals, and fears the isolation of Kuwaiti scientific research and researchers.

Read the ESHG press release


ESHG 2016 - Thanks & on-demand webcast information

The organisers would like to thank the over 3,500 attendees, representing a record attendance at ESHG meetings, as well as over 150 exhibiting companies and institutions and their over 500 representatives and obviously all speakers and poster presenters for making this conference a memorable experience.

You can find the collection of recorded sessions as webcast in our archive.


See the press releases of the European Human Genetics Conference 2016, May 21-24, Barcelona Spain here.


The EuroGentest Committee of the ESHG has developed Guidelines for diagnostic next-generation sequencing published in the European Journal of Human Genetics.

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EMA - 2 Calls for collaboration

The European Medicines Agency is launching a consultation to implement the strategic priority of establishing a greater collaboration with Academia.
You are invited to participate to this process by answering a brief questionnaire that also provides space for comments and suggestions.
Please click on the following link to access the questionnaire:


The European Medicines Agency has released for public consultation on ICH guideline on genomic sampling and management of genomic data - Step 3.
The document open for consultation is available by clicking here.
Comments should be provided using this template. The completed comments form should be sent to ICH(at)


A number of ESHG courses have updates on their programme, namely the Spring Course in hereditary cancer genetics, the course Preconception, Preimplantation & Prenatal Testing and the course Basics in Human Genetic Diagnostics. Check them out here.

ESHG makes fellowships available for these courses.


For immediate release

The proposed Regulation on In Vitro Diagnostic Medical Devices (IVDs) negotiations, currently at the stage of tripartite negotiations between the Council (representing Member State governments), the European Parliament, and the European Commission, still risks restricting the rights of patients and doctors to carry out essential genetic testing, says the European Society of Human Genetics (ESHG) today (19 October 2015) in a statement issued by a range of organisations representing geneticists and patients.

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After an open consultation on the ethical issues surrounding health databases and biobanks by the World Medical Association (WMA) recently a two day meeting was organized. ESHG responded to the consultation.

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We would be interested to know, if you have recently been thoroughly impressed by one or more speakers you have seen at a meeting (obviously outside the ESHG Annual meeting), both in terms of being an excellent speaker and of presenting excellent science.

We look very much forward to receiving your input at your earliest convenience, in order to discuss it at the next SPC meeting end of June, but we will keep the online form open over the whole year and are equally happy to receive a feedback whenever you experienced a great talk at a meeting.

Thank you very much!

Access the feedback form


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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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


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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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.