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.
WMA discusses Health Databases and Biobanks , September 15-16, 2015
After an open consultationon 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 with the letter that can be found here. The meeting took place in Copenhagen, and one of our members working in Copenhagen, Prof. Lisbeth Tranebjaerg, attended the meeting.
Jon Snaedal gave a historical overview of WMA’s work and their “recommendations” spanning from warning about the use of computers (in 1998- 2002) to their standpoint of extending the range of Helsinki declaration to apply also to data collection in a broader medical context, not just along with research. About 2/3 voted for that in 2012.
Paragraph 32 in the declaration and the issue of consent for further/future use of data for either same purpose or other disorders than initial consent was given for: this issue is highly relevant to re-consider and find good workable ways to solve. By now it is not resolved. A wider frame of securing trust in research and in researchers could be to stick to “good ethical conduct”.
The principles focused upon in the coming statement were: 1: define biobank (population, disease specific, clinical, stem cell relevant) and each type requires appropriate but often different governance structure and management. 2: broad consent should be considered for storing research material. 3: think of an “opt-out” system for left over material from diagnostic collection of biological material- and inform about the opt out option.4: archive material for various (non-research) purposes: here it is often impossible to re-locate the donor, and waiving consent should be possible 5: a given biobank should state principles for return of results, and for possible re-contact to the donor (a child becomes adult and other future scenarios). It was suggested that a type of “informed broad consent” (regarding governance structure, commercial use of data, participatory engagement, benefit sharing and aims of the biobank, and the information should be very transparent. Medical files were not considered research data .
Prof. Tranebjaerg participated as panelist in the session on Health databases and ethical issues and repeated the points in the ESHG input which strongly advocate for a more open policy for sharing data and possibly also stressing an obligation to utilize the data for research, not just be concerned about safe guard issues around sharing. She also expressed that the distinction between genetic and other health data may vanish to an increasing degree in the near future.
The WMA recommendations are not binding, but very influential. After this Copenhagen meeting some internal discussions in WMA will follow.
In memory of Professor Richard Cotton
With great sadness we have learned that on june 14, Professor Richard (Dick) Cotton died peacefully in Melbourne. He is survived by his wife Libby, and children James Michael and Caroline. He was one of the world´s pioneers in the field of human mutation detection and will be most remembered as the founder of the “Human Variome Project” in 2006, in which he brought together clinicians, basic scientists, and national governments all over the world to collect, curate, interpret and share all human genetic variations and their effects in individuals, and make them freely and openly available.
Prof. Cotton began his professional career in the field of biochemical genetics and was trained in several of the most renowned human genetics laboratories in the USA and the UK. He reached world recognition with his keystone publications on immunoglobulins which led to the discovery of the monoclonal antibody technique, for which César Milstein was subsequently awarded the Nobel Price in Physiology in 1984. Monoclonal antibodies are now regularly used in many aspects of medical research and clinical practice.
Dr. Cotton participated significantly in the identification of the genes for phenylketonuria (PKU) and its variants. His work was fundamental to enable early diagnosis led to many life-saving treatments of PKU and prevention of disease progression. He was a pioneer in the field of genetic mutation detection, developing methods for their chemical and enzymatic detection. Professor Cotton was one of the first to recognise the need to document the extent of all human genetic variation in order to investigate, treat and prevent human disease.
In 1986, he, with Prof. David Danks, was instrumental in founding The Murdoch Institute (now the Murdoch Childrens Research Institute) at the Royal Children’s Hospital in Melbourne, bringing genetic research to Australia. Their vision for an independent genetic research institute has since grown from a handful of researchers to become a world-class centre of genetics research and clinical genetics services.
In 1992, Dr. Cotton founded the scientific journal Human Mutation, which is now among the top 20 journal in the category of Genetics and Heredity.
In 1996, Professor Cotton established the Human Genome Organization Mutation Database Initiative which, in 2001, became the Human Genome Variation Society. In 2006, following the completion of the Human Genome Project, the Human Variome Project (HVP) emerged. Over the last decade, his insight into, and passion for the emerging need to document all genetic variation for all diseases across all countries was boundless, His visión is now being realized and fulfilled. The HVP Consortium is regularly called on to provide expert comment and advice on mutation documentation activities worldwide, including by the WHO. The HVP was recognised in 2011 as “Official Partner Status” by the United Nations Educational, Scientific and Cultural Organisation, and Professor Cotton’s overall contribution was recognised by a DSc from the University of Melbourne and admittance as a Member of the Order of Australia.
Personally, I knew Prof. Cotton from the HVP conferences and I always noticed his enthusiasm and leadership of his project. He was a kind and charming man whom we all miss.
Feliciano J. Ramos
President of the ESHG
Franca Dagna Bricarelli 1941-2014
On 8 December 2014 Franca Dagna Bricarelli passed away at the age of 73 years and the European community of geneticists lost one of the main figure in medical genetics and a dear friend.Franca, who lived in Genova, where she graduated in Biological Science in 1965, played a key role in the development of prenatal and postnatal cytogenetic in Italy, helding from 1996 to 2008 the Direction of the Genetics Laboratory of Galliera Hospital. In 2009 Franca was appointed as Coordinator of the Liguria Genetics Department.Her wide experience in cytogenetics led her to the role of Coordinator of the Permanent working group of the European Cytogenetics Association from 1997 to 2014. For the European Society of Human Genetics she was a member of the Professional and Public Policy Committee contributing to several important statements. She worked passionately at the definition of quality criteria for medical genetics laboratories, for the services of clinical genetics holding prestigious positions in the Italian Ministry of Health. In this field, particularly during the years 2005-2009, as President of the Italian Society of Human Genetics, she established an active working group with the aim to define, as first in Europe, standards for quality management systems in the medical genetics activities. Franca was a pioneer in the institution of official biobanks for biological sample belonging to patients affected by rare diseases and, since 2009, she worked as Italian representative in Europe for the realization of a European network of biobanks. She was a counselor to the Italian Minister of Internal Affairs for the National regulation of the Prüm Decision for the automated exchange of DNA and fingerprints data for forensic fields among European countries. She collaborated for many years with the Italian Data Protection Authority, producing important documents about the fundamental rights and freedoms regarding the processing of genetic data. She was involved in patient care and actively participated in several patients associations, particularly for Down and Fragile-X Syndromes as well as many other rare diseases. Throughout all her professional life she dedicated herself with enthusiasm to training young geneticists organizing national and international courses and conferences. We remember Franca as a fundamental guide, headstrong in achieving her goals, always available to give professional advice and suggestions in our activity and the best way to remember and be grateful to her, is to continue, with the same enthusiasm, working for patients suffering from genetic diseases and engage in professional development of young geneticists. Those who, like me, had the privilege to have her as a guardian angel for over thirty years will continue to have almost every day the instinct to call Franca not only to have an opinion on work projects but also for the pleasure to spend a few minutes of the day to greet a great researcher, a special woman and a sincere friend
Goodbye Franca, thank you from all of us.
Director of Medical Genetics Laboratory
“Sapienza” University of Rome
San Camillo-Forlanini Hospital,
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 expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. After a consultation of the ESHG membership (in Febr/March 2014) the Public and Professional Policy Committee of the European Society of Human Genetics in collaboration with the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform developed recommendations on NGS for NBS that were published online the 28th of January 2015. The main messages is that the primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.
The interface between Artificial Reproductive Techniques and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. Since March 2005, a group of experts from the European Society of Human Genetics (ESHG) and European Society of Human Reproduction and Embryology (ESHRE) met to discuss the interface between genetics and ART and published several documents together, the most recent one of which just appeared the 8th July 2014. As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs to substantiate that the technique is both effective and efficient. Whole genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction still remains very heterogeneous and often contradictory. The lack of legal harmonization and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe, and beyond.
See www.ncbi.nlm.nih.gov/pubmed/25006203 for more information.
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.
The historical library of the Institute of Human Genetics contains mainly literature of medical interest and has a focus on literature related to legal, ethic and social aspect of Human Genetics.
23andMe must stop selling DTC genetic tests, says US regulator
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.
In the strongly-worded letter, the regulator says that 23andMe had failed to produce adequate evidence that its product, Personal Genome Service, provided accurate results. They consider the product to be a medical device, and as such requires FDA approval for use. “FDA is concerned about the public health consequences of inaccurate results from the PGS device”, says the letter. Despite many requests “we still do not have any assurance that the firm has analytically or clinically validated the P.G.S. for its intended uses, which have expanded from the uses that the firm identified in its submissions.”
The FDA's letter can be found here:
The company has fifteen days in which to respond.
The European Society of Human Genetics believes that the current clinical utility of the information provided by direct to consumer testing companies such as 23 and me is limited.
The ESHG's statement on the use of direct-to-consumer genetic testing in health care was published in 2010 and can be found here:
Letter in Science: ESHG calls for restraint in use of WGS diagnostic testing
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. Wherever possible, such testing should be restricted to those genome regions linked to the patient's indications, they say, and wider testing needs to be justified in terms of necessity. Adding additional targets to a diagnostic test would be a violation of this, they say.
However, in the case of unsolicited findings, the patient's right not to know may sometimes have to be secondary to clinical geneticists' professional responsibilities, say the authors. The patient may not have foreseen a specific finding and in some cases the physician will have a moral duty to warn close relatives. Pending further debate, a cautious approach continues to be warranted, they say.
Letter in Science (for subscribers only)
The letter by Carla van El et al summarises the Recommendations of the ESHG concerning on Whole Genome Sequencing in Health Care (Recommendations and Background Document) published in the European Journal of Human Genetics
ESHG welcomes the US Supreme Court's decision in the case of Myriad Genetics
The decision by the US Supreme Court to rule that human genes cannot be patented has important implications for patients and for science. The patents held by Myriad Genetics on the BRCA 1 and 2 genes which predispose to breast and ovarian cancers has meant that the company was free to set a price for the diagnostic test. That price was often beyond the reach of many of those who needed to be tested. Now the field will be open, and other laboratories will be able to provide the genetic diagnosis. This should result in lower costs and greater access. Of course, the decision in the US does not affect the legal situation in Europe, where genes are still patentable. However, it is noticed that the arguments, that were used to convince the Supreme Court, were very similar to the ones put forward by the ESHG in its recommendations on patenting and licensing in genetic testing, issued in 2008.
“The Supreme Court has concluded that human genes can only be discovered, not invented”, said Gert Matthijs. “and discoveries cannot be patented, also according to European patent law. More importantly, in the decision, it is specifically stated that genes and the information they encode are not patent eligible. Thus, it is acknowledged that genes are not just chemical structures, but that they are recognized for their genetic content. That's exactly how geneticists deal with them.” By the same token, the Supreme Court held that cDNA - which is actually an artificial copy of a messenger RNA - can still be patented, because it does not exist in nature. That's a twist, which is useful to safeguard patent protection on possible therapeutic uses of gene products, but which will in practice not significantly interfere with DNA diagnostics.
The ESHG suppports an initiative of the EUPHA: "EU Data Protection Regulation has serious impact on health research"
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You may already be aware that the European Parliament's rapporteur on the Data Protection Regulation has just published a draft report that would, if enacted, have devastating consequences for research using health data.
The draft report has been produced by Jan Philipp Albrecht, rapporteur for the LIBE committee, who is leading the progress of the Regulation through the European Parliament (http://www.europarl.europa.eu/meetdocs/2009_2014/documents/libe/pr/922/922387/922387en.pdf). The rapporteur's report proposes 350 amendments to the draft.
A number of these have serious implications for health research, based on the rapporteur's premise that “processing of sensitive data for historical, statistical and scientific research purposes is not as urgent or compelling as public health or social protection.” He gives no indication of how the evidence for urgent action for public health or social protection purposes might be obtained without research. Were the amendments to pass, the major concern is that they would mean that identifiable health data about an individual could never be used without their consent. This would mean that much important epidemiological research could not take place. For example, it would outlaw any registry-based research, such as that using cancer or disease registers. This would also make it virtually impossible to recruit subjects with particular conditions for clinical trials. The amendments would allow Member State to pass a law permitting the use of pseudonymised/key-coded data without consent, but only in cases of “exceptionally high public interest”. (Amendment 27, p24; Amendments 327 and 328, p194-195; Amendments 334-337, p198-200.) this would be an impossibly high bar for all but the most exceptional research, such as that on bioterrorism. In addition, the amendments would bring all pseudonymised/key-coded data within the scope of the Regulation, even where the person or organisation handling the data does not have the key. This would significantly increase the regulatory burden on organisations using pseudonynmised data or sharing these data with collaborators in countries outside the EU. (Amendments 13 and 14, p15-16; Amendments 84 and 85, p63-64). This would have implications not only for the soon to be 28 Member States but also for accession states implementing the acquis communitare and for those in other countries collaborating with EU researchers.
MEPs will now consider and vote on the amendments over the next few months. We believe that it is essential that these amendments do not pass. We cannot believe that most MEPs, if made aware of the catastrophic consequences, would support them. But this means that we must make them aware of the risks.
We are writing to you, the constituent member organisations of EUPHA, to seek your support in the following actions.
First, we will write to MEPs as the organisation representing Europe's public health researchers and practitioners to highlight the dangers of the amendments.
Second, we will work with individual MEPs to encourage them to draw the attention of their colleagues to what is being proposed.
Third, we will work closely with national medical and scientific academies to co-ordinate our activities.
We do, however, need your assistance:
1. We ask that you distribute this message among your members to inform them of the dangers.
2. We also ask that you, as a national public health association, and your members, either as individuals or as representatives of institutions, write to your MEPs to highlight your concerns. Some of you may also be in a position to support your health and science ministries in developing a response.
3. We also ask that you provide us (firstname.lastname@example.org) with examples of research that has contributed to policies that have saved lives and which would have been impossible had these amendments been passed. We are doing this at a European level but there may be examples from your own country that have particular resonance with your own MEPs.
We realise that you have many calls on your time but this is a matter of great urgency and we depend upon you to help us deliver an effective response.
Walter Ricciardi, EUPHA president
Martin McKee, EUPHA president-elect
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.
ESHG Press Release
Privately owned genetic databases may hinder diagnosis and bar the way to the arrival of personalised medicine: ESHG reacts to today's report in the European Journal of Human Genetics
In response to the on-line publication by the European Journal of Human Genetics today (Wednesday) of an article by US researchers led by Dr. Robert Cook-Degan, a former member of the US Office of Technology Assessment, showing that Myriad Genetics, providers of the BRCA1/2 genetic test in the US, has amassed vast quantities of clinical data without sharing it.
Specialty of genetics in Spain finally announced
On april 13, 2011, the Spanish Minister of Health, DÃ±a. Leire PajÃn, announced during a session of the spanish parliament,(Congreso de los Diputados) the creation of the specialty of Clinical Genetics in Spain as one of the new sanitary specialties to be included in the directory of the Spain´s National Health System. Ms. PajÃn said that the Ministry will work with the aim of having the process ongoing before the end of this year 2011.
The Spanish Society of Human Genetics (AEGH), after almost 30 years of waiting for this announcement, is now ready to start the process for which we are already prepared by having a draft of the specialty to be presented to the future National Commission of the Specialty of Clinical Genetics.
We would like to mention that we think that the inclusion of Medical Genetics in the EU Directive 2005/36/CE about recognition of professional qualifications last march, supported and promoted by the ESHG, has likely influenced positively in the Ministry´s decision. Finally, we hope to keep the support of the ESHG during the process.
Feliciano J. Ramos, MD PhD
President of the Spanish Society of Human Genetics (AEGH)
Report of the Secretary's Advisory Committee on Genetics, Health, and Society, Department of Health and Human Services
- Official Response of the ESHG
- Official Response of the Ad Hoc Genetic Nurse and Counsellor Accreditation Committee of the ESHG
- Dutch Society of Clinical Genetic Diagnostic Laboratories
OMIM is available through a new and improved website, www.omim.org. The website has a fresh new look that emphasizes the relationship between diseases and genes. To improve clinical usefulness, omim.org includes ICD9, ICD10 and SNOMED CT codes, new links to clinical trials.gov, OrphaNet, Ensembl, Model Organisms, and more. Links in OMIM are organized and take users directly to relevant information. OMIM's Gene Map is now searchable by genomic coordinates. User feedback is encouraged via the "Contact Us" link at the top of every page.
Development of omim.org was funded by Johns Hopkins Medicine, and the site is hosted at the University of California Santa Cruz (UCSC) Genome Bioinformatics. OMIM is sponsored by a grant from NHGRI.
Recommendation CM/Rec(2010)11 of the Committee of Ministers to member states on the impact of genetics on the organisation of health care services and training of health professionals
Presentations, workshop report and additional legal documents available
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
- 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
- Dutch Society of Clinical Genetic Diagnostic Laboratories
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe
The Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes has been published in the European Journal of Human Genetics, (2010), 1-3.
A pdf can be downloaded here.
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.
The European Medicines Agency has published a Questions and Answers document on Gene therapy (EMA/CHMP/GTWP/212377/2008).
PPPC-EHSG responds to the Human Genetics Commission consulation on A Common Framework of Principles for direct-to-consumer genetic testing services
Support of the National Presidents of European Human Genetics Societies for Inclusion of Clinical/Medical Genetics into Directive 2005 / 36 / EC
The sequencing of the human genome and the development of new technology make human genetics a very dynamic sector. The very rapid progress in this field has prompted the Council of Europe to focus on the ethical and legal issues raised by applications of genetics, in particular genetic testing, and to draw up legal standards to protect fundamental human rights with regard to these applications.
The Council of Europe Convention on Human Rights and Biomedicine (ETS No. 164) sets out a number of principles concerning genetics (Articles 11 to 14), particularly genetic testing and interventions on the human genome.
In order to develop and supplement the principles set forth in the Convention, the Council of Europe Steering Committee on Bioethics (CDBI) has elaborated a new Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes which was opened for signature on 27 November 2008. For the elaboration of this Protocol, the CDBI consulted different experts and used in particular as a basis for approaching certain notions the recommendations of the European Society of Human Genetics.
The Protocol covers all genetic testing carried out for health purposes, except genetic testing concerning the human embryo and foetus and that carried out for research purposes. It lays down principles concerning, in particular, the quality of genetic services, prior information and consent as well as genetic counselling. It also covers the protection of private life and the right to information obtained by means of genetic testing. Finally, it addresses the issue of genetic screening.
For the text of the Additional Protocol and its explanatory report see at:
Look at Life differently - Science in the News.
Sirpa Soini, SÃ©golÃ¨ne AymÃ© and Gert Matthijs the members of the Public and Professional Policy Committee (PPPC) and Patenting and Licensing Committee (PLC), on behalf of the ESHG
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.
Letting the Genome out of the Bottle - Will We Get Our Wish?
Recommendations and Background Document on "PATENTING AND LICENSING IN GENETIC TESTING - Ethical, Legal and Social Issues"
International System for Human Cytogenetic Nomenclature (ISCN)
The newly elected committee for the International System for Human Cytogenetic Nomenclature (ISCN) has been formed.
The committee consists of eleven elected members from six geographical locations
The following individuals will serve on the ISCN committee for 2007-2011:
- Myriam Chaabouni
- Yoshimitsu Fukushima
- Prochi Madon
- Lynda Campbell
- Christine Harrison
- Nils Mandahl
- Albert Schinzel
- Kathleen Rao
- Marilyn Slovak
- Lisa Shaffer
- Carla Rosenberg