The past year has seen many developments in the field of gene editing, both in somatic and in germ line applications. Editing the germline means that changes will be made in every cell in the body and will be inherited by future generations. While carrying out such editing in a research setting is important for a greater understanding, clinical germline editing leading to a pregnancy carries considerable practical and ethical risks, at least at present.
The announcement of the birth of twins in China, following a procedure of germline gene editing performed by Dr He Jiankui, has attracted the attention of the international media, as well as raising serious concerns in the scientific community, and the Chinese authorities also condemned these procedures as being illegal in the country. A few scientists in the USA were informed about the intentions of Dr He Jiankui both before and during the course of his experiments. However, formal reports to ethics committees or other relevant institutions were never made.
Now clinical germline gene editing has taken place, and the scientific community worldwide has been shaken and is questioning its responsibilities.
Over the past years, there has been a general consensus that it would be irresponsible to carry out any clinical germline gene editing at the present time, and that there is a need to promote research to build up a robust core of knowledge on the subject, as well as to explore more broadly the views of society on the scope and limits of this research and its potential future application. ESHG has contributed to these discussions and to this general consensus, notably through our Recommendations on Germline Gene Editing released in April 2018, and jointly signed with ESHRE.
Notwithstanding the wide scientific consensus on the inadvisability of clinical germline gene editing, clinical experiments have taken place. For this reason, a group of eminent scientists (Lander et al) has proposed that the scientific community should take a stronger position in the form of a moratorium on clinical, heritable, gene editing.
The moratorium would not prevent human germline gene editing research that will not lead to a pregnancy, neither will it discard the possibility of introducing germline gene editing in the future should nations so wish after adequate and thorough reflection, together with appropriate and sound international dialogue and supervision.
Such a moratorium will mean that every scientist pledges to adhere to a moral code of conduct according to which they will voluntarily refrain from and will not support any use of clinical germline editing - unless certain, clearly-defined conditions are met. These latter would entail a period of public notice of the specific intents, during which there would be robust international discussion about the pros and cons of doing so. Within individual nations there would also be debate to explore whether a broad societal consensus on whether to proceed with clinical human germline editing at all might be reached, as well as on the appropriateness of the proposed application.
The moratorium will also entail potential collaborators, ethics committees and peer-reviewed journals observing a ‘scientific embargo’. Such journals are the gatekeepers of trustworthy scientific communication across the world, and this requirement will involve more stringent ethical review and filtering.
As a scientific society with a commitment to contributing to the responsible translation of advancements in human genetics into a benefit for patients and society as a whole, we believe that it is our responsibility to make an unequivocal statement on this issue in response to the plea of our eminent colleagues, in order to provide clear direction to our members.
The ESHG, while considering fundamental and pre-clinical safety research on human germline editing to be not only justified, but necessary, supports the call for a global moratorium on all clinical uses of human germline editing - in sperm, eggs or embryos - that will lead to a pregnancy and/or to the creation of genetically modified children.
We urge relevant institutions to consider this plea for a moratorium in all their pertinent rulings, and to provide appropriate information to society as a whole so that adequately informed discussion may take place.
Two years ago, ESHG condemned the collection of DNA from ordinary individuals in China as part of an oppressive programme of surveillance and control of the Muslim Uyghur population in Xinjiang. Since then, both the size and the evidence of the misuse of this database have been growing. The around 10 million Uyghurs are already suffering state repression. All passport applicants are now required to provide DNA samples, irrespective of whether or not they are suspects in a criminal case. This is in total contradiction to all existing regulations and safeguards concerning the collection of DNA samples from individuals.
DNA technology is in itself neutral and has legitimate and beneficial applications in many areas of healthcare when used ethically with informed consent, and in forensics when used in an appropriate legal framework. But collection of DNA without the subject’s full, informed consent can only be justified in extremely limited circumstances, for example in order to solve a very serious crime. A collection of samples from individuals where no such consent has been given, or where it has been obtained by extortion, has been ruled illegal by many international bodies, and the very existence of such a database is dangerous.
Once more, ESHG calls on the Chinese government to follow in the footsteps of all responsible authorities and ensure that human DNA is collected only from individuals suspected of having committed serious crimes; obtaining and documenting informed consent is an essential cornerstone of the proper research use of DNA samples. We applaud the reported action of the ThermoFisher company in refusing to supply its equipment to Xinjiang, and also call on other companies providing the technology used in this collection to halt sales to Chinese police forces until the issue has been resolved satisfactorily, i.e. that human rights are no longer being violated in this way.
The ESHG joins the American Society of Human Genetics in denouncing the misuse of genetics in support of racial theories. Not only is this dangerous and immoral, but it also has no base in science. Although it is possible to claim that a person belongs to a particular race based on their appearance, race cannot be identified by genetics.
Our members are dedicated to improving human health and well-being, for all, and we condemn very strongly any attempt to use our work to the benefit of any particular section of society, or to propagate hate and extremism.
A number of talks from previous conferences are available as on demand web-cast via ESHG's YouTube Channel.
In recent months, there have been reports in the media concerning the use for law enforcement purposes of personal genetic information submitted to commercial companies in the interests of determining ancestry. This has raised questions that need wider scrutiny and debate.
Such ancestry databases collect and store genetic information provided by paying customers who, in exchange, obtain access to a database where they may be able to find genetic matches with other customers, and so establish a degree of relatedness. Companies usually state that consumers’ genetic information will be kept private and confidential within the context of the ancestry database and will not be shared with third parties without their consent, with the exception of their being compelled to do so by law enforcement authorities.
A clear definition of the categories or limits of such cases is not provided by the companies, since this would be variable depending on the circumstance, as well as from country to country. However, this unavoidable imprecision may leave room for misinterpretation and an incomplete understanding of the facts from the customer’s perspective.
The legal framework under which any one company selling ancestry testing and holding the database operates is another potential problem. It would be plausible to assume this would be according to the regulations of the country where the company is registered, which might in itself not be familiar to the customer. However, it would be reasonable to speculate that there might also be a complex interplay with the legal framework of the country of origin of the customer, as well as of international regulation, particularly when serious crimes or immigration policies are involved.
Furthermore, the customer might reasonably assume that such particular circumstances would apply in the case where they themselves are suspected of committing a crime. Instead, those cases reported recently show that access to these databases has been exploited by authorities for the purpose of looking for relatives or fellow nationals of a suspect, who is not himself a customer of the company, with the aim of confirming identity or nationality. In order to do this, every search has to examine data from a large group of customers and not only one individual or a small, restricted group. This represents a serious threat to the privacy of individuals not suspected of committing a crime.
This is not an ‘in principle’ matter. Instances of non-paternity, for example, could be revealed through this process. If others were to gain access to the database, this information could be exploited for personal or even criminal reasons.
Informed consent of the person involved is waived in cases of law enforcement, but such consent is still needed for the initial request for testing and registration to the database. Understanding this level of complexity is not trivial and can test the implication of ‘meaningful’ alongside ‘informed consent’.
Finally, the use of commercial databases containing data acquired mainly for ‘recreational’ use, might not be fully compliant with the recently published guidelines for the storage and use of genetic data (Forensic Genetics Policy Initiative’s 2017 Report: ‘Establishing best practice for forensic DNA databases’) from a technical and procedural perspective.
On this basis, we would encourage all relevant stakeholders to start discussions on the use for forensic purposes of genetic information available in the public domain and in non-forensic databases. Access to a private genetic information outside of the scope of the individual consent is an exception that responds to a specific goal: to contribute to justice. This access must be established through laws or the constitution, so as to guarantee the protection of innocent people.
We urge current and future customers to acquire all the information needed before undertaking commercial genetic testing, particularly for purposes that are not health-related.
The Council of Europe’s protocol on genetic testing for health purposes* came into force yesterday (Sunday 1 July). The protocol, an addition to the Convention on Human Rights and Biomedicine, lays down rules on the conduct of genetic tests, including direct-to-consumer testing. It specifies the conditions under which tests may be carried out on persons not able to consent, with particular attention to children, and addresses privacy issues and the right to information obtained through genetic testing. It also covers counselling and screening.
The protocol enters into force thanks to its ratification by five Council of Europe member states (Norway, Montenegro, the Republic of Moldova, Slovenia and Portugal). It has also been signed by five others – the Czech Republic, Finland, France, Iceland and Luxembourg. The major push for ratification came from the Czech Presidency of the Council of Europe, following extensive lobbying by the Czech Society of Medical Genetics and Genomics. “It was a major effort on our part,” says Professor Milan Macek, President of the Czech Society, “and we are delighted by the result.”
“At a time when genetics and genomics are advancing so rapidly, issues surrounding genetic testing take on an even greater importance than before,” says ESHG President Professor Gunnar Houge, University of Bergen, Norway. “New technologies and discoveries provide huge potential for the improvement of human health, but alongside that can go the potential for misuse. The ESHG therefore welcomes the Council of Europe protocol and believes that it will be an important factor in ensuring that genetic progress continues to be applied in the most ethical way possible to the benefit of all concerned.”
See the according press release.
We would like to draw special attention to the Educational Resources, which have been excellently put together by Education Commtitee member Edward Tobias.
The website is now also mobile responsive and will provide a much better experience on your mobile device.
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!
It is with sadness that that I heard the announcement of the death of John Sulston this week. Other commentators have remarked on his contribution to the first working draft of the human genome and the clarity with which he argued that this science should be in the public domain.
I had the privilege of beng his colleague on the UK Human Genetics commission. I remember not only his intellect and humanity but also that he was great fun. My time on this Commission was one of the most formative in my professional life and much of that was due to working with colleagues such as John. My sympathies go to his family, friends and colleagues.
His contribution to the science of human genetics should be acknowledged and his personal qualities remembered.
President of the ESHG
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.
For immediate release: Thursday 16 March 2017
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, with all 22 Republicans supporting it and all 17 Democrats opposing.
Genetic tests can predict health risks. In the US, where companies cover significant parts of the health insurance of their employees they may, understandably, want to minimise these risks. In the past, however, decisions on whether or not to undergo genetic testing have been the voluntary choices of individuals. Both the Council of Europe and the US law (Genetic Information and Non-Discrimination Act, GINA) uphold this standpoint.
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. This Bill has apparently been integrated into the activities related to the revision of the Affordable Care Act, otherwise known as Obama Care. Transparency is needed on the potential decision to discontinue the GINA. The genetic and health information of individuals needs protection,” said Professor Martina Cornel, chair of the ESHG Public and Professional Policy Committee.