Tag: ethics

Influencing Policy

Editing embryos – Could you? Would you? Should you? Views from Genetic Counsellors

DATE: 03/08/17
By: Anna Middleton

counselling_bodyGenetic counsellors sit on the front line of genomics – translating (literally) the science for people who are trying to make sense of it. They help people to figure out if testing in pregnancy is right for them or whether to proceed with embryo selection to ensure a family condition is not passed on. Genetic counsellors work at the intersection between science and society, helping people cope and manage the most potent aspects of grief and helping to make meaning out of a genetic test result that has implications for biological relatives.

Genomics really is a family affair, as many genes are shared between family members. Genetic counsellors, dealing with the reality of genetic technology, understand the questions that are important to patients and their families. They also understand how genetic disease impacts on us as individuals, as parents, as communities and, as decreed in their code of ethics, they have our collective interests at heart.

The American Society of Human Genetics issued a policy this week on the application of germline editing – the ability to use ‘genetic scissors’ to cut and paste genes in early stage embryos. These changes would be passed onto further generations, unlike somatic cell editing, where the changes would only occur in the patient, and would not be passed onto their children. The policy supports the research endeavour to understand how germline editing might be applied in practice and believes such research should be publicly funded, transparent and open to ethical scrutiny.

The authors of the policy statement agreed that it is not appropriate to perform germline gene editing that culminates in human implantation or pregnancy. They also agreed however that there is currently no reason to prohibit in vitro (outside of a living organism) germline genome editing research, with appropriate oversight and consent, or to prohibit public funding for such research.

Critics of germline editing speak of ‘playing god’, ‘designer babies’ and ‘crossing a line’, fearing that by even engaging in research, the creation of a eugenic underclass will materialise. However, what genetic counsellors see is a well-established discipline of Medical and Clinical Genetics, which has existed for the last 50 years, with the potential for a new toolkit to be added that could help prevent suffering and disease.

Familiar with the ethical issues raised by genetics in practice, genetic counsellors aren’t interested in applying a new technology for enhancing frivolous conditions. They are interested in promoting science and medicine that can treat real people with serious, life-threatening conditions.

It is this motivation behind the policy statement that says – let’s at least research where germline editing can take us. This policy does not commit us to translating germline editing into clinical practice, but mandates the support for research that will give us the evidence to say whether it is feasible for the future or not. The policy very clearly states that no edited human embryos should be implanted and thus no pregnancies will result – and indeed this is illegal in many countries anyway.

The policy statement also agreed that a compelling medical rationale with evidence and an ethical justification should be required before any future clinical application of germline genome editing takes place, with transparent and public input from all stakeholders.

What is particularly exciting about this policy is that its first author and the main professional bodies represented in the writing of the policy, are all international genetic counsellors. This is actually quite unusual in policy making that so many diverse professional genetic counselling bodies have aligned. Whilst the policy has been endorsed and supported by many other groups, at the core of this work are basic principles of genetic counselling. By using genetic technology and information to serve individuals and families, genetic counsellors help individuals at risk from genetic disease make choices about their and their family’s future health. As a society we can only do this if we support, enable and publicly fund the scientific and social science work that needs to explore how this might work in reality.

Genetic counsellors, working in one of the professions predicted to have the largest growth in the job market over the coming years, are in a strong position to comment on how genomic technology should be used in the future. It is incredibly exciting that a topic as important as embryo editing should be where they unite globally.


About the authors:

Dr Anna Middleton is Head of the Society and Ethics research group at the Wellcome Genome Campus Connecting Science, Cambridge and is Vice-Chair of the Association of Genetic Nurses and Counsellors in the UK.


Related publication:

Ormond KE et al. (2017 Aug 3). ASHG policy statement on human germline genome editing. The American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2017.06.012.

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Influencing Policy

Can sharing your personal data protect your freedom?

28 January 2015
By Sarion Bowers

Professor Mike Stratton supporting the Data Saves Lives Campaign

Wellcome Trust Sanger Institute Director Professor Mike Stratton supporting the Data Saves Lives Campaign

We increasingly live in an age of big data, but does that equate to an Orwellian dystopia where “Big Brother is watching you”? Are privacy and data sharing directly in conflict, or can an organisation’s decision to share your personal data be compatible with protecting your freedom and choice?

The European Union is proposing a new Data Protection Regulation, which could curb data sharing in Europe, including for research purposes. Could legislation that is designed to protect individuals from unwanted use of their data actually undermine the wellbeing of the people it seeks to protect?

At the Wellcome Trust Sanger Institute big data is our bread and butter. In January 2014 we reached a major milestone having collected 1 petabyte (1 million gigabytes) of genomic data and we continue to collect about 1 terabyte (1 thousand gigabytes) each day.

The data that we collect is used around the world to improve knowledge of human and animal health. We pride ourselves on our expertise in sequencing and analysing genomes. Our research is overwhelmingly supported by charitable and public funds, so we believe it right and in the public interest that others benefit from the science we create by sharing our expertise, resources and the data we generate. Doing great science is of limited benefit if others cannot use it.

So, if sharing genomic data is in the public interest where does that leave our participants’ privacy? Our human data is generated from volunteers who donate samples. Whether they are apparently healthy people or people with specific illnesses, they appreciate the fact that their data are beneficial to society. For many participants, they do not simply donate for an individual project, but instead expect and want us to share the data we derive from their donation freely with other researchers.

Our participants recognise that it is not possible to predict the future uses for their data but they still consent to and want their data shared for research purposes. This is typically done in a coded anonymised form that prevents researchers from knowing individuals’ identities.

Alongside consent, the Sanger Institute also operates a managed system whereby researchers must apply to access data. An application to access data is never judged on the merits of the science or whether it competes with our own research, but simply on whether the applicants are seeking to use data for legitimate and ethical research purposes.

As we have the consent of our participants to share data, it is not unreasonable to ask why we have managed access. Consent is a fundamental and critical cornerstone of research, the importance of which cannot be underestimated, but believing that consent completely protects participants from having their privacy breached is, perhaps, a mistake.

Every day people give commercial organisations consent to use their data when they sign up for their services and yet often feel their privacy has been invaded if an organisation uses their data in a way they did not expect. This was exemplified in the backlash that accompanied publication of the experiment Facebook carried out on its users. Every user had given consent but many still felt that Facebook had breached their privacy.

At the Sanger Institute, we believe that guarding data from misuse stands alongside consent as the best means to guarantee we protect our participants’ privacy.

Given that consent is rightly enshrined in research and permeates our society, it is understandable that the European Parliament put consent at the heart of their proposed Data Protection Regulations, which will include health-related and genetic data. Under the proposals, individuals need to provide purpose-limited consent for their personal data to be used and they must re-consent on a case-by-case basis for their personal data to be shared.

On the face of it this sounds reasonable, but, in reality, vital research that is legal and ethical would not be possible because of the difficulties of re-consenting thousands of participants each time their data were shared for new research.

We believe that these Regulations will make research at the Sanger Institute and worldwide extremely difficult in a way that would be detrimental to research and healthcare, but critically they also undermine the autonomy of research participants throughout Europe. We should all have the right to say how our data is used.

For these reasons the Sanger Institute has chosen to support the Data Saves Lives Campaign, which aims to persuade the EU to recognise the importance of sharing data for research and to revise its restrictions on research. The Sanger Institute is committed to protecting the privacy of our participants, without whom our work would not be possible.

Over the coming months we will campaign to be allowed to do the research that we believe is so important to patients and beneficial for wider society and in the process we will be campaigning for our participants’ autonomy and their right to self-determination.

Sarion Bowers is the Research Policy Advisor at the Wellcome Trust Sanger Institute. She has a PhD in Biochemistry. Before joining the Institute she did postdoctoral fellowships in Leeds and Connecticut. She recently completed an MSc in Science and Technology Policy, in which she researched the adoption of genomics into the NHS.

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Influencing Policy

Getting to know you

17 December 2014
By Anna Middleton

People want data but do not expect researchers to deliver results if this compromised their research. Credit: DOI: 10.1016/S0140-6736(14)62119-X

People want data but do not expect researchers to deliver results if this compromised their research. Credit: DOI: 10.1016/S0140-6736(14)62119-X

Our genomes contain information that controls every aspect of our biology. A very small, but ever-growing, fraction of this can be decoded by scientists and can tell us what’s going wrong or what’s likely to go wrong in the future. As we understand more and as the cost of sequencing falls, the likelihood of patients encountering genetic sequencing in the process of their treatment increases. Because of this, the public needs to have a say in how this very personal data is used.

In 2010, when the Deciphering Developmental Disorders project began screening patient genomes, we began talking to scientists, clinicians and patient families to uncover potential ethical issues. It was always our intention that the genetic data relevant to the patient’s developmental disorder would be shared with patient families as this, the diagnosis they had often waited years for, was the driving force of the whole project. What though, of the rest of the genome? In those billions of letters of genetic code that don’t tell us about the patient’s specific disorder there may lurk genetic variants that can drive tumour development or increase susceptibility to other diseases.

We made the decision for this research to report back only pertinent findings. But was that the right decision? To find out, we had to ask all the relevant stakeholders for their views; a challenging task when you consider that we wanted to know people’s opinion on very new and complex scientific methods.

We created an online survey that contained 10 short films to describe the ethical issues raised by sequencing technologies. The survey went viral and we had just under 7,000 responses from 75 different countries. It has since been translated into Danish and Spanish by other research groups to be used with different poputlations. The response we received from the public, health professionals and scientists round the world was clear: most thought that important health implications discovered accidentally in the process of answering a research question should be reported to the participant.

However, what was also clear was that participants did not expect researchers to deliver such results if by doing so this compromised the ability to conduct their research. This indicates a very common sense approach – people want data. But they don’t believe it should be delivered to them at all costs. A more detailed breakdown of the survey results can be found here.

Engaging with the public, health professionals and scientists about how genetics is likely to shape healthcare and asking everyone to play a part in these major decisions is incredibly important. As research develops and the capabilities of genomic sequencing increase, we will need to continue this conversation.

Anna Middleton is a social scientist and registered genetic counsellor researching ethics and genomics at the Wellcome Trust Sanger Institute.


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