A citizens’ jury of individuals whose lives have been affected by hereditary disease has voted in favour of asking the UK government to consider changing the law to allow genome editing of human embryos to treat serious genetic conditions.

The four-day event was the first time that patients, rather than policymakers or professionals, have been asked about their views on this complex topic.

Published by Wellcome Connecting Science, the report of proceedings makes 15 recommendations centred around transparency, inclusivity and equal access to treatment that should be considered in deciding whether to legalise editing of human embryos to treat genetic diseases.

The views of individuals most affected by genetic conditions are timely, with the 3^rd International Summit on Human Genome Editing beginning on 6 March 2023 and UK legislation due to be debated in parliament later in the year.

It is estimated that more than 2.4 million people are currently living with a genetic condition in the UK. This includes disorders, such as cystic fibrosis or sickle cell anaemia, which are caused by variation in a single gene and can be inherited in families.

In the UK, as in most countries worldwide, it is illegal to perform genome editing on embryos that lead to pregnancy. The NHS does offer a service to couples who carry a heritable genetic trait to screen IVF embryos, meaning only embryos without the inherited condition are implanted. However, this approach is not suitable for everyone.

In 2018, Chinese researcher He Jiankui announced the birth of twins, whose genomes had been illegally altered as embryos using CRISPR gene editing technology. He was later jailed for three years, but recently returned to science researching treatments for genetic conditions.

The 3^rd International Summit on Human Genome Editing is due to begin on 6 March 2023. With the first successful genome editing treatments recently deployed in adults and children involved in clinical trials, and more clinical trials at an advanced stage, many researchers and policymakers feel there is a need to begin the process of deciding whether, and under what conditions, genome editing of human embryos to treat genetic conditions might be permitted.

The citizens’ jury convened by public participation experts Involve at the Wellcome Genome Campus, near Cambridge, in September 2022 to consider the question: ‘Are there any circumstances under which a UK Government should consider changing the law to allow intentional genome editing of human embryos for serious genetic conditions?’ Each of the 21 jurors had personal experience of a genetic condition and were chosen to provide diversity of age, ethnicity, socio-economic background and educational attainment.

Over four days, the jurors heard expert testimony, reflected on their personal experiences, held guided discussions on the issues raised, voted on the question, and drew up a set of recommendations for policy makers. The jurors voted 17 to four that the UK government should consider changing the law to allow genome editing of embryos to treat genetic conditions, albeit with strong recommendations on how the process should be handled.

Nick Meade, Director of Policy at Genetic Alliance UK, a partner on the project, said: “Genome editing technologies are rapidly approaching the point where they will be accurate and safe enough to be used as medicines to treat people living with single gene disorders. As the jury have identified, in the reproductive choices world, there are conditions that current techniques like preimplantation genetic testing can’t address.

"The jury’s nuanced message can now kick-start an important conversation with people living with genetic conditions.”

^{Nick Meade}

During their deliberations, the jurors reflected deeply on the meaning of suffering and their definitions of serious genetic disease. They divided their recommendations into four themes:

1. Develop an inclusive process for deciding whether to proceed with genome editing, with equity and diversity at its heart.
2. Put in place effective support to ensure equitable access to treatment, including providing transparent information about treatments.
3. Protect the rights equally of those who decide to proceed or not to proceed with treatment.
4. Develop an equitable process and framework to reduce the wider social inequalities and the potential for harm.

Professor Jackie Leach Scully, an expert in bioethics from University of New South Wales, who presented to the jury, said: “Not all disability involves suffering and disadvantage, so we should think very carefully about whether altering our genetic makeup for all future generations is what is best for society. Several members of the jury spoke eloquently and movingly about their experience of disability and their discomfort at the prospect of editing of human embryos without due consideration for people like them. It’s absolutely vital that policymakers take these views seriously.”

This is the first in-depth study into what individuals living with genetic conditions think about editing of human embryos to treat hereditary disorders. The decision on whether to act on the jury’s views now rests with policymakers.

Professor Anna Middleton, the leader of the project from Wellcome Connecting Science and the University of Cambridge, said: “Though all the jurors had personal experience of an inherited genetic condition, their views on editing of human embryos were varied, nuanced and complex. Many of the discussions were emotional, and the responsibility felt by the jurors to represent wider society in their deliberations was clear."

Professor Middleton said it was a privilege to see how individuals’ views shifted over the four days, as they heard from experts in various disciplines and from each other.

"When the Human Fertilisation and Embryology Act is debated in Parliament and discussions emerge on the editing of human embryos, it is imperative that the voices of patients are heard as part of this.”

^{Professor Anna Middleton}

Andrea Reid-Kelly

I grew up in Leeds with my parents, my older brother and later on my foster brother Scott, who has Down’s syndrome. I think growing up with a brother with Down’s probably made me a better person. You develop a compassion and understanding for those whose experience is different from your own. This probably has something to do with me going into teaching and I’ve taught children with special educational needs since the mid-1990s. I now live in Birmingham with my husband Martin and our daughters, Francesca and Claudia.

I was born with a significant heart condition, which we later learned was caused by Noonan syndrome. This is a genetic condition that can cause heart problems, distinctive facial features, small stature and specific learning difficulties such as dyslexia. But symptoms vary widely and so does its severity – some people may never know that they have it. It’s estimated that as many as one in 1000 people are born with Noonan syndrome. It can be hereditary or appear by chance, as it did in my case.

I have a couple of the more severe symptoms, I suppose. I had heart surgery when I was four years old and then again when I was 33 years old. My last surgery was three days after my daughter’s second birthday, which was hard. At four feet nine inches tall, I have proportionate short stature, a form of dwarfism. I also have dyslexia and wonder if I have other specific learning difficulties as well. Although the genetic cause of Noonan is known in many cases, in my case it remains a mystery.

Despite these challenges, I live a happy life and I’m proud of what I’ve achieved. My condition hasn’t stopped me doing anything, except reaching the top shelf in the supermarket! I went through an angry phase when I was younger, but am at peace with who I am and I think dealing with Noonan has given me more confidence and strength to tackle life’s other challenges. I sometimes think my condition is harder on my family than it is on me – they can’t help worrying about me.

When my husband and I started thinking about having children, it was obviously a really serious decision. There was a 50-50 chance that my children would inherit Noonan syndrome. After a lot of soul searching, I decided that it was worth the risk. But I really pushed my husband to think long and hard about whether he wanted to have children with me. I didn’t want him to just say ‘yes’ because he loved me and hoped for the best.

So far as we know, neither of our daughters have Noonan syndrome. Because the gene that causes my case is unknown, we can’t test them to know for sure. I wonder if Francesca has a very mild form, though. There are subtle signs, but then it’s easy to see what isn’t there. Not every trait is necessarily linked to Noonan.

I first met another person with Noonan syndrome some years ago. There’s something powerful about meeting someone with the same genetic condition, you can identify with their experience and bond over challenges. I heard about the citizens’ jury via Genetic Alliance UK and decided to get involved.

Before the jury, I didn’t really know much about editing of human embryos or have a strong opinion about it. I’m a bit of a fence-sitter by nature. But by the end of the jury, I went from a neutral opinion to being in favour of parliamentary debate about potentially changing the law to allow editing of human embryos to treat genetic conditions. I felt well-informed and empowered after hearing from experts and other’s whose experience differed from mine.

One thing I feel very strongly now is that open and honest debate needs to happen about editing of human embryos, because it is incredibly complex. I think about my brother Scott and how the world would be less rich without people like him in it – he is so much more than a person with Down’s syndrome. We shouldn’t automatically seek to remove difference, even if it scares us, because the less we see it the less compassionate we become as a society.

I think personal choice is key. If I could go back in time and had the option, I wouldn’t chose to edit my embryos. But I understand that my daughters might want to have that choice, because there’s a chance they have Noonan syndrome and could pass that on to their children.

The citizens’ jury has been an incredibly powerful and inspiring experience, it’s an amazing tool for debating complex issues. The danger, I think, is that nobody pays attention and that our thoughts have no influence in the end.

Will Newman

I live in Chapel-le-Frith in Derbyshire with my wife, Margaret. I was a librarian here for many years, but I’m now retired and our three children are grown up. Two of them live in other parts of the UK, but our youngest daughter, Kat, lives close by. Kat has non-identical twin daughters, Mollie and Ellie, who are seven years old.

In 2016 Ellie was diagnosed with cystinosis, a rare genetic condition. We estimate only 190 people have it in the UK. Cystinosis is caused by a faulty gene which means that the body can’t get rid of the amino acid cystine, causing it to form crystals inside cells that gradually damage the body’s organs and tissues. It often affects the eyes and kidneys first, which is how most diagnoses are made.

We’re fortunate to have a treatment for cystinosis. Before that, people with the condition didn’t make it to adulthood. Now the prognosis is much better and we hope that Ellie will live well into middle age and beyond.

Unfortunately, the treatment does come with serious side effects. It’s a sulphur-based medicine, so can lead to a ‘bad egg’ body odour and irritation of the digestive system. The burden of administering the medicine is also high, as it has to be taken four times a day and eye drops to treat cystinosis in the eyes need to be given every waking hour. As a carer, it’s incredibly hard keeping up with this treatment regime and seeing the side effects on your loved one.

But we’re thankful that Ellie will live a much fuller life than she would have before treatment was available. There are also some promising advances on the horizon, some of which have been funded by Cystinosis Foundation UK, where I’m Chair of Trustees. We hope to see drugs with less severe side effects soon and stem cell trials are underway in the US that are very promising.

Before the jury, I didn’t really know much about editing of human embryos, to be honest. The preparatory materials I was given when I was selected for the jury were my first real insight into the topic and I resolved to keep an open mind. I simply didn’t know enough to take a stance.

Having been through those four days of heartfelt and complex debate, my view is that human embryo editing to treat genetic disorders should be seriously considered. The impact on the lives on some people living with these conditions, and on those who care for them, would be immense. One of things that struck me after the jury was the mental health aspect on wider family and carers – you don’t always fully appreciate the toll it takes.  

Some moments the jurors shared still make me tear up when I think about them now. Some of the views on disability opened me up to ways of thinking I just hadn’t considered before – we’re probably all guilty of getting stuck in our own bubble.

To those in government who may one day have to decide whether to legalise editing of human embryos to treat genetic disorders, I’d like to say that although this issue requires wider consultation, don’t dismiss us. We may just have been 21 people, but there was so much diversity in our experiences and views. They deserve to be taken seriously.

Brenda Poku

I’m originally from Ghana but now live in Nottingham, after moving to the UK in 2015 to study for my doctorate. I was originally a nurse, but now I research sickle cell disease from the perspective of patient experience and service provision. This is a subject close to my heart, not only because I was a nurse, but because I have sickle cell disease myself. My younger brother also has the condition.

Sickle cell disease is a genetic condition that is particularly common in those with African or Caribbean ancestry. The condition is caused by a faulty gene that affects the shape of red blood cells. The most common symptom is bouts of pain, which are very unpredictable in timing and severity, sometimes requiring strong painkillers like morphine or even hospitalisation.

But there are also less well-known symptoms, such as chronic fatigue. This is a focus of my research and I can tell you, it’s not easy summoning up the energy each day to pursue your career and deal with everything else that life throws at you. Socially and emotionally, it is difficult to manage fatigue and pain because they are invisible to other people.

Unfortunately, as a condition that primarily affects black people there isn’t the support for those with sickle cell disease that there should be. Health inequalities play a part in this.

But despite my condition, I’m proud of how I’ve dealt with it and my achievements in life. You can’t worry all the time, you develop coping skills to manage. If anything, I worry more about my little brother, about the pain he’s experiencing or whether he’s getting the support he needs. Sickle cell disease is hard on family and loved ones, too.

Being in healthcare, I had some knowledge of genome editing before I took part in the citizens’ jury. There are advanced genome editing trials for sickle cell disease, with some of the participants having been ‘cured’. Researchers are monitoring them to make sure there are no unintended long-term side effects, but it’s likely there will be a cure for sickle cell in my lifetime. Whether it will be available to all those who need it is another question.

At the beginning of the jury I’d say I was against editing of human embryos to treat genetic disorders. When I was younger, I probably would’ve accepted this kind of treatment, but now I’m not so sure. For better or worse, sickle cell is part of who I am, where life has taken me. Perhaps it would be different if I had been diagnosed later in life and the ‘real’ me was the one without sickle cell disease – I can understand how you’d want to get back to that.

During the jury event, I gained a new appreciation of why some people may want to take advantage of human embryo editing and would say that swayed me towards thinking it needed to be considered.

That said, there are so many complex moral, ethical and social issues to discuss. Coming from an ethnic minority, I’m deeply aware of health inequalities and I worry that genome editing could widen the gap between the ‘haves’ and ‘have nots’. If disability becomes rarer because some have access to genome editing, will support for disabled people get better or worse? Will we become more tolerant as a society or less?

The jury was a great experience, but one of the things it highlighted to me was how unprepared society is for the conversation around editing of human embryos to treat genetic conditions. A lot of work needs to be done to ensure this technology benefits all humans, not just some.

Posted 28 February 2023

^{Adapted from a press release from the Wellcome Sanger Institute.}

^{Image credits: Genome Research Limited}