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When Genetics Becomes Personal: Rare Disease, Family, and Genomic Medicine – Reflections from a Centre for Personalised Medicine Research Fellow

My name is Sally Sansom. I’m a Research Fellow within the Centre for Personalised Medicine at St Anne’s College, and I’m also in the final year of my PhD within the Health Economics Research Centre at the University of Oxford. My work focuses on genomics, rare conditions, and how we decide whether new genomic medicine technologies improve the lives of patients and caregivers, and represent good value for money for health systems like the National Health Service (NHS).

But the reason I work in this area is not only academic, it’s also deeply personal.

A personal beginning

I’m the eldest of three girls. My middle sister, Stephanie, is eighteen months younger than me. When we were growing up, I slowly became aware that she was different. She never said her first word. She barely slept. She had seizures. And, when we were out in public, people stared. I would glare back, wanting to protect my little sister and my family, without really understanding why she was different, or why she wasn’t growing up like I was.

When Stephanie was two years old, she was diagnosed with Angelman syndrome, which is a rare, genetic, neurodevelopmental condition. For the first time, we had a name for what Stephanie, and we, had been living with.

People who haven’t encountered Angelman syndrome often find it difficult to picture what this looks like in everyday life. Stephanie is today what I sometimes describe as an adult-sized eighteen-month-old. She has never spoken. She isn’t toilet trained. She struggles to safely walk independently. And she needs lifelong, around-the-clock care. As a child, all I really understood was that Stephanie needed much more help than other children, and that this help would always come from our parents, and over time, from me and my youngest sister.

Finding meaning through genetics

For me, Angelman syndrome didn’t just explain Stephanie. It also gave me a framework for understanding the world. This became particularly clear to me when I was fifteen years old, sitting in science class.

I remember being handed a piece of paper with forty-six squiggly lines printed on it. Each line was a slightly different length, with a different pattern of dark and light bands. We were asked to cut them out and arrange them into height order. Slowly, it became clear that the squiggly lines weren’t all different, they belonged in pairs. Twenty-three pairs, to be exact.

Our teacher explained that these squiggly lines were chromosomes, and that they were made up of the genetic material (or DNA) that makes us who we are. Every person’s genetic material is different, and that’s why every person is different.

I looked at the pair of chromosomes labelled “15”, and suddenly something clicked. One tiny error, in one tiny section of just one of those chromosomes, answered the question I had been asking for years: why is my sister different?

Genetics gave me a way of understanding how Stephanie came to be, what her future might look like, and how I might be able to help her. It’s why I studied genetics in my undergraduate degree, and later why I moved into health economics: because scientific discoveries, like genomic medicine, can only change lives if they move from the laboratory, through clinical testing and evaluation, and into routine healthcare.

Genomics and gene therapies

I like to think of our DNA as the architectural plans for a house. Every cell in our body contains a complete copy of those plans. They are extraordinarily detailed, and they describe how the house should be built, how it should function, and how it should be maintained over time.

Genome sequencing is the process of carefully reading those plans, letter by letter. It allows us to identify when a single letter has been blurred or damaged, when an instruction is ambiguous or incomplete, or when an entire page is missing. For rare conditions in particular, genome sequencing has transformed the process of obtaining a diagnosis. It can bring clarity after years of uncertainty, and can provide a foundation for research into future treatment options.

However, simply reading the plans and identifying the problem doesn’t fix the house. This is where gene therapies come in.

Gene therapies are often spoken about as if they are one single thing, but in reality, they are a broad family of approaches. What they share is the aim of changing the genetic material within our cells, or how it is used, rather than simply treating symptoms.

Historically, when people first talked about gene therapy, they were usually referring to gene replacement therapies. These involve delivering a working copy of a gene into cells that, for whatever reason, are missing this gene, or their copy of the gene is non-functional. In house terms, this is like inserting a missing page into the plans. This approach works best when a gene is completely absent or non-functional, and when the replacement gene is small enough to be delivered.

These types of therapies have already transformed care for some rare conditions. One example in the United Kingdom (US) is Luxturna, which treats a form of retinitis pigmentosa, a rare inherited condition that causes childhood blindness. By delivering a working copy of the gene directly to retinal cells, Luxturna can restore functional vision in patients with just one injection per eye within their lifetime.

But gene replacement therapies are only one option, and they are not suitable for every condition.

A second type of gene therapy focuses on gene regulation. In these cases, the gene is present in the cells, but it isn’t active enough or it’s too active. So, rather than adding a new gene, these therapies aim to increase or decrease the activity of an existing gene. Returning briefly to the house analogy, this is less like adding a new page and more like reinforcing an existing structure.

A third type of gene therapy involves gene silencing. Sometimes the problem isn’t that the gene is missing, or is over- or under-active. Sometimes the problem is that the gene is producing something harmful to the cells. In these cases, the goal is to stop the gene from being used by these cells completely.

More recently, there has been growing interest in a fourth type of gene therapy, involving gene editing. These approaches use molecular tools to make very precise changes to the genes already within our cells. So, rather than adding, regulating, or down regulating genes, gene editing aims to correct the underlying error.

Angelman syndrome illustrates why having this range of approaches matters. The gene involved in this condition is relatively large, and the most commonly used delivery systems for gene therapy can only carry small amounts of genetic material. This means that gene replacement is more challenging. However, it is still thought to be possible, and the first person with Angelman syndrome was dosed with the first gene replacement therapy for this condition in an early-stage clinical trial late last year.

In addition to gene replacement therapies, researchers are also exploring gene regulation therapies for Angelman syndrome. These are thought to be promising because individuals with Angelman syndrome often have a functional copy of the gene present within their cells that is silenced, so these approaches are looking at methods for turning this gene back on.

An important consideration is how gene therapies are delivered. Some are given directly into the body, for example into the bloodstream or into the fluid around the brain and spinal cord. Others involve taking cells out of the body, modifying them in the lab, and then returning them to patients’ bodies. Some approaches are designed to be given once, with effects that may last many years or even a lifetime, while others may require repeated dosing. Each of these choices has implications for safety, feasibility and acceptability, and cost-effectiveness.

Some gene therapies are already being used in the UK for rare conditions. In addition to Luxturna, another example is Zolgensma, which is used to treat spinal muscular atrophy, or SMA. This therapy replaces a missing gene in very young children and can dramatically alter the course of this condition that was once almost universally fatal in early childhood.

Why evaluation matters

These advances are extraordinary, but they also raise difficult questions. Many gene therapies are extremely expensive. Some are given only once, with effects that are intended to last a lifetime. However, the benefits may take years to fully emerge, and the long-term risks are still being studied, raising important questions about safety, durability, and unintended consequences, particularly when changes are permanent.

This is where my work sits. My research focuses on how we evaluate genomic tests and gene therapies. How do we measure whether they improve lives? How do we capture outcomes that matter, not just changes seen on scans or in lab tests, but changes in communication, independence, and functioning? How do we account for the impact of these therapies on caregivers? And how do we decide whether these therapies represent value for money for the NHS, given resources are limited and needs are many?

For rare conditions, these questions are particularly important. Conditions like Angelman syndrome affect a relatively small proportion of the population, but their impact on the quality of life of patients and caregivers is profound. Parents often have to reduce or give up paid work. And, siblings may take on caregiving roles. These effects extend far beyond individual patients, and can shape family life for decades. Traditional economic evaluation methods do not always capture this full picture very well.

That is why my work focuses on patient- and caregiver-reported outcomes: listening carefully to patients and families, and ensuring that the questions we ask reflect what matters to them, and to their loved ones with a rare condition. It also means being honest about uncertainty. These therapies are promising, but they are not simple fixes. Timing matters. Effects vary between individuals. And, long-term follow-up is essential.

When I think about Stephanie, I often wonder how things might have been different if some of today’s tools had existed when she was born. I feel real hope when I look at the pace of progress. I also feel a strong sense of responsibility to ensure that the widespread excitement about gene therapies is matched by robust evidence, so that patients and families are not offered false promises, and so that a public health system like the NHS can use its limited resources wisely.

So, if there is one thing I hope readers take away, it is this: genomic medicine is creating genuinely exciting possibilities for people with rare conditions and their families. But those possibilities must be accompanied by rigorous research and evaluation, thoughtful decision-making, and a clear focus on outcomes that matter.

References

A. Schambach et al., “A new age of precision gene therapy,” The Lancet, vol. 403, no. 10426, pp. 568-582, 2024, doi: 10.1016/s0140-6736(23)01952-9.

E. James. Foundation for Angelman Syndrome Therapeutics (FAST). Introduction to Gene Therapy. (2025). Available: https://www.youtube.com/watch?v=Q4VcMmJCWU8.

Foundation for Angelman Syndrome Therapeutics (FAST). “The State of the Drug Development Pipeline.” Foundation for Angelman Syndrome Therapeutics (FAST). Available: https://cureangelman.org/current-pipeline.

N. Vokinger, C. E. G. Glaus, and A. S. Kesselheim, “Approval and therapeutic value of gene therapies in the US and Europe,” Gene Therapy, vol. 30, no. 10-11, pp. 756-760, 2023, doi: 10.1038/s41434-023-00402-4.

M. F. Drummond et al., “Analytic Considerations in Applying a General Economic Evaluation Reference Case to Gene Therapy,” (in eng), Value Health, vol. 22, no. 6, pp. 661-668, Jun 2019, doi: 10.1016/j.jval.2019.03.012.

Health Inequalities & Ethnicity in the NHS Genomic Medicine Service: Constructing Pathways to Greater Equity

On 9th January 2025, we celebrated the creation of a new partnership between the University of Oxford and two Genomic Medicine geographies, South East and Central & South to generate evidence and design the solutions needed to tackle some of the inequalities and barriers that prevent genomic medicine being equally accessible to all. Funded by the NHS Race & Health Observatory, we will undertake a research and engagement programme over the next 15 months to understand the complex socio-cultural dynamics that constitute ethnicity and their implications for capturing genomic diversity.

The launch meet of this partnership was hosted at the Centre for Personalised Medicine, St. Anne’s College, University of Oxford. At the event, Dr Veline L’Esperance, Senior Clinical Advisor at the NHS Race and Health Observatory, highlighted the importance of this project in foregrounding the concerns of minority ethnic communities. She further pointed out the need for addressing public mistrust in healthcare services. Prof Anneke Lucassen, Director of the Centre for Personalised Medicine at the University of Oxford, underlined how collaborative research, involving communities and professionals in co-designing recommendations, is a necessary pathway in ensuring equitable healthcare. Dr Frances Elmslie, Clinical Director for the South East Genomic Medicine Service Alliance reiterated our commitment to better understand where disparities exist in the delivery of genomic medicine services and explore measures to eliminate them. Dr Nishtha Bharti, postdoctoral research fellow with the Clinical Ethics, Law and Society group at the University of Oxford shared initial research findings from her study exploring healthcare professionals perspectives on the challenges that arise from the varied and intersectional aspects of conceptualising race, ethnicity, and ancestry in genomics.

Dr Shwetha Ramachandrappa, Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Foundation Trust, lead a roundtable discussion with a diverse group of patient representatives, healthcare professionals and researchers. Dr Ramachandrappa shared her experience of working with Bangladeshi and Pakistani communities and emphasised the need for treating community members’ voices sensitively, so that research findings reflect their authentic perspectives. Philandra Costello, Lead Nurse at NHS Central and South Genomic Service Alliance discussed how poor translation of healthcare material and absence of suitable interpreters could undermine a project’s success among ethnic minority groups.

Prof Eamonn Sheridan, Medical Advisor to the NHSE Genomics Unit stressed the importance of utilising appropriate language in equity initiatives and the need to avoid terms like ‘hard-to-reach communities’, opting instead for ‘communities that are not heard’. The round table discussion also benefitted greatly from the inputs of genetic counsellors, clinical scientists and pharmacists who shared the challenges they face in specialised medical environments and their efforts in navigating those challenges. Representatives of various charities such as Unique Community and Alstrom Syndrome UK further contributed to a rich conversation about encouraging cultural competency, securing transparency and building long-term trust in healthcare delivery and research.

We aim to reflect on these discussions and combine them with our experience in public engagement, collaborations with underserved communities and academic rigour to explore healthcare professional, patient and public perspectives on the challenges of improving equity in genomic care. We will use this information to devise a series of practical recommendations to disseminate through professional networks and into clinical and research practice. This work will pave the way for larger scale efforts to improve inclusivity within the genomic medicine service. The next event bringing together diverse interest-holders and the collaborators in this partnership will take place in January 2026.

Thinking Outside the Box: Navigating Ethnicity in Genomic Medicine

As part of CPM’s collaboration with the South East and Central & South Genomic Medicine Service Alliances, funded by the NHS Race and Health Observatory, we hosted an event in June 2025 that brought together:

We explored how identity descriptors, such as ‘ethnicity’, are used in healthcare, with a focus on genomic medicine. Genomic medicine has two reasons to be interested in  identity descriptors:

Our research with NHS consultants, scientists and nursing teams has suggested that identity descriptors can be challenging to use in practice. This is partly because it can be difficult to know how to ask the question; how to record the information given; and then to use it appropriately for variant interpretation. The latter in turn is difficult since ethnicity is a social construct that incorporates so much more than genetic ancestry. It can also mean different things to different people. When we ask someone about their ethnicity, they might think of their place of birth or their place of upbringing, their nationality, culture, race, or even religion. The same label can mean different things in different places and people’s identities are often more complex than any drop-down menu can capture (as we explain in more detail in our podcast).

Using a method called ‘public switching’, our aim for this event was to hear directly from public participants, particularly patients and support groups with a wide range of experiences, to understand how ethnicity classifications operate in practice. Public switching brings diverse public voices into the earliest stages of shaping solutions and challenges top-down ways of tackling complex social problems (Dunlop et al., 2023). We presented some perspectives from healthcare professionals’ from our research to prompt participants to reflect on their own experiences with ethnicity in clinical settings and to understand how such data collection might be improved. Ahead of the day, we provided an orientation pack to the participants, outlining some of the key challenges around how ethnicity is asked about and recorded.

In the first half of the day, participants explored inclusive ways of asking about and recording ethnicity and co-created questions that were then shared with a panel of scientists, healthcare professionals and policy experts later in the day.

Session 1: Buttons, boxes and real-world dilemmas

We began with a ‘button exercise’. Participants chose a button that represented an aspect of their identity and explained its significance. This opened early conversations around self-perception and diversity.

Next, groups explored personal and collective experiences using two activities:

1.  Using cardboard cubes, participants wrote down the various labels they had received in healthcare settings, how those labels made them feel and what might be missing from those descriptors. These cubes captured a wide range of lived experiences: being stereotyped, mislabelled, dismissed or boxed into inaccurate categories. Participants shared feelings of mistrust linked to historical legacies and frustration at inaccessible or assumption-driven systems. They also reflected on the double-edged nature of labels: they can sometimes validate and connect, but they can just as easily exclude or harm.

2.  Working in groups, participants then discussed a real-world healthcare scenario, raising questions about the ethics of categorisation, whether identities should be chosen from a list or written in freely, and how political sensitivities, confidentiality and consent can be properly addressed. Participants also considered the implications of categories whose meanings shift between geographical regions and the broader challenge of respecting identity narratives in healthcare and research.

Session 2: Turning lived experience into ‘what next?’ questions

In the second session, participants developed questions based on earlier discussions, considering different target audiences such as researchers, clinicians, or policymakers.

These questions asked, for example:

These ‘what next’ questions formed the bridge into the afternoon panel.

Throughout the morning, participants wrote their reflections on postcards. These showed evolving understandings of the meaning of identity, recognising how factors like location, skin colour, ancestry, culture, religion, gender and language shape self-definition. Many noted the harms caused by mislabelling, the complexity of intersecting identities and the need to make space for individual stories. Some reflected on their own biases and how identity can be both a source of pride and something one might wish to hide depending on social context.

Panel Discussion

In the afternoon, a panel of scientists, healthcare professionals and policy experts joined participants for an open conversation and a two-way dialogue, where panellists and participants reflected together.

Panellists noted the challenge of balancing standardised data with complex identities, and stressed that trust and context are key to accurate self-reporting (see Redman et al., 2024). They highlighted the importance of co-design with communities, cultural competence in practice, and transparency about why and how identity data is used, especially given political and ethical risks.

What we learned and what happens next

The workshop activities demonstrated just how much complexity sits behind seemingly simple categories. The event also showed that good policy depends on public insight and must be shaped by the communities it affects. We are grateful to everyone who took part.

Our next event linked to this project will focus on how feedback from patients and publics can be built into genomic services on an ongoing basis, rather than through one-off consultations. We will be sharing more details soon and hope to welcome many of the same voices – as well as new ones – into that conversation.

Nishtha Bharti, Susie Weller and Anneke Lucassen

Reflections from the Workshop: The Future of Low Carbon Health and Care

On Wednesday 24th September 2025, academics, clinicians, local policy leaders, and the public came together for an afternoon of discussion on the “Future of Low Carbon Health and Care”. The workshop, co-hosted by the Centre for Personalised Medicine, the Global Centre on Healthcare and Urbanisation and the National Institute of Health Research Applied Research Collaboration Oxford and Thames Valley, was held at The Hub, Kellogg College, which as the University’s first Passivhaus building was a fitting setting for the discussions of the day.

The afternoon was opened by Professor Sara Shaw who spoke of the urgent need for low-carbon, climate resilient, and equitable health and care systems. She presented key themes for the workshop ahead; the environmental impact of health and care systems, the health and social harms posed by climate change, the need to ensure continuity of care within climate-resilient health systems, the potential co-benefits of considered climate action, and the moral and ethical imperative to act.

Interdisciplinary Perspectives

The afternoon proceeded with an interdisciplinary panel, chaired by Dr Juliet Carpenter, exploring perspectives on the role and actions of different sectors in limiting environmental impact.

Dr Martha Crockatt introduced her research on the relationship between green infrastructure – the collection of natural spaces that allow people to interact with ecosystems – and population health. Her work demonstrates the co-benefits of green space initiatives: actions that are ecologically beneficial and improve public health outcomes. Yet, she warned of the potential unintended consequences of so-called ‘green gentrification’, characterised by the relocation of higher-income individuals who are attracted by greener neighbourhoods, which can potentially displace local communities.

Continuing this conversation around inclusion and accessibility, Dr Jennie Middleton, presented the work of the ‘Care on the Move’ project, which is examining barriers to everyday mobility and ‘active travel’ by focusing on the physical, emotional, and logistical labour associated with care on the move. She spoke of how assumptions are often made in relation to ‘active travel’, which do not consider lived experience or social inequalities, and provoked discussion around the romanticised ideals of walking in urban imaginaries which exclude many population groups.

Dr Laurence Wainwright brought the role of business to the discussion, calling for a fundamental re-examination of the purpose of business – including how business can work better to ensure environmental responsibility. He drew particular attention to the relationship between extreme heat and mental health to highlight the intersection between environmental stressors, wellbeing and economic resilience, which provided a bridge into the later discussions of the day on the climate-related barriers facing health and care systems.

Health, Care and Climate in Practice

The second panel of the afternoon, chaired by Dr Louisa Chenciner, engaged with the health and care system in relation to the climate crisis.

Speaking of the limitations of focussing solely on the ‘carbon footprint’ in healthcare, Dr Søren Kudsk-Iverson referenced the current policy landscape, with legally-binding NHS commitments to achieve net zero by 2040 for direct carbon emissions. Echoing earlier discussions, he emphasised the need to better address health and social inequalities in the healthcare system alongside efforts toward decarbonisation of core infrastructure.  

Subsequently, Dr Sara Khalid shared her work as head of the Planetary Health Informatics Lab. She provided perspectives on the ‘whole-exposome’ approach – which accounts for intersectionality, and how this can be applied to understand the effects of climate change on different population groups. She set out recent work to develop climate risk scores, amid more frequent and severe extreme weather events, and highlighted the need to integrate climate adaptation with mitigation.

Dr Amy Booth provided insights into the supply chains which enable the functioning of health and care systems. She referenced the wide scope of supply chains: from hospital food to medical devices and drugs. Her work encouraged attendees to broaden their perceptions of the environmental impacts of supply chains, beyond carbon footprinting, to consider waste byproducts and the ecological consequences of using natural products in manufacture.

Finally, Dr Pete Sudbury spoke of the need for radical, system-led change, in the face of threatened planetary boundaries. He explored the importance of narratives on climate change, and the potential for collaborative working in this area. Alongside fellow panellists, he advocated for the need to address wider social inequalities and for the NHS to move from sickness to prevention. 

The event concluded with reflections from Dr Sarah Briggs, with the display of engaging visual minutes which conveyed key themes of the afternoon’s discussions created by Zuhura Plummer. Sarah spoke of how necessary changes within the health and care system are nested within broader societal and systems change, concluding that environmentally sensitive health and care must go beyond carbon. The evening culminated in a networking reception – a great opportunity to reflect and make new connections. 

We are keen to continue work to support ongoing collaboration, research and teaching in this area – if you are working in this or allied areas in Oxfordshire and would like to keep in touch, or if you would like further information about the event, please contact cpm@well.ox.ac.uk.

Louisa Chenciner and Megan Wadsworth

Centre for Personalised Medicine Art Competition 2024-25

Earlier this year, the CPM ran an art competition asking UK students in Years 7 to 9 (approx. 11 to 14 years old) to send in art on a theme of ‘how personalised medicine affects our planet’ (click here to see a video introducing the competition).

We were delighted to receive a whole variety of amazing entries. The entries were judged by Dr Rachel Horton (CPM Junior Research Fellow), Dr Ali Kay (CPM Junior Research Fellow), Dr Gabrielle Samuel (Department of Global Health & Social Medicine, King’s College, London), Dr Kate Keohane (St Anne’s College/Ruskin School of Art), Dr Delia O’Rourke (Centre for Human Genetics), Geetika Kumar (Oxford University Personalised Medicine Society), and Raquel Parra (Paintings in Hospitals).

This blog post showcases our winners and finalists, we hope you enjoy these exceptional artworks as much as we did.

Winner: group category

By Charlotte, 12, and Tommy, 11, Mountbatten School, Hampshire

Charlotte and Tommy’s artwork, entitled ‘What we carry’ explores how personalised medicine impacts the environment by showing medical waste painted on a human body. It highlights the amount of single-use plastics, chemicals, and packaging that one person might create through personalised healthcare. By combining the human form with hand-drawn waste, the piece raises important questions about how we can enjoy the benefits of personalised medicine while reducing harm to the planet.

The judges thought that this was extremely original, striking and imaginative – it really brought home the environmental impact of our personal healthcare.

Winner: individual category

By Owen, 12, Heckmondwike Grammar School, West Yorkshire

Owen’s sculpture shows scales with a medicine bottle, tablets and ointment in one bowl being weighed against our planet and plants in the other bowl, inventively demonstrating tensions between producing medication with the aim of improving human health, and environmental sustainability considerations.

This ambitious and imaginative piece powerfully communicates that there is a balance to be struck between human medicine and the health of the planet. The judges felt that the entry was very creative and a thoughtful exploration of the topic.

Runner up

By Hannah, 13, St Helen and St Katherine, Abingdon

Hannah’s artwork ‘Harmful healthcare’ explores how personalised medicine has major consequences on the environment. Hannah explores six different reasons emissions are created when personalised medicine is used: mineral extraction; acid baths; electronic waste; manufacturing and packaging; data storage online; and sample storage. Each of these has a section in the piece which has a water colour representation of what it looks like when it occurs as well as a few concise words which explain what is happening. Hannah used recycled cereal boxes for the waterfall, diggers and desk. All of the letters come from magazine text and the water’s rocks and splash are made out of tin foil.

The judges thought that this considered environmental impacts very thoroughly and showed great use of recycled materials. It showed a diverse range of ways personalised medicine products and practices impact the planet and we loved the mixed media art style and clear message from the piece.

Highly commended

By Laranya, 14, Worksop College, Nottinghamshire

Laranya’s artwork, ‘The Pharmacy Fish’, represents the damage that can take place to our environment for example to our rivers, oceans and wildlife from personalised medicine waste. Laranya layered medicine packets, clinical waste bags, tablets and more in the shape of a fish to express the consequences of the mass production and waste of personalised medicine. She chose specific words such as disposable (encouraging waste), resistant (antibiotic resistance) and others to represent the impact of specific medical activities. The lips are made from disposable thermometers, the lower fins from dental care products. The main fins are from expired Covid tests, syringes and a face mask. The tail and orange parts are from a biohazard bag which is used to collect clinical waste from medical practices.

The judges enjoyed the fantastic use of health-related materials in this collage fish: the colours and textures created are really eye-catching. We thought the entry was extremely thoughtful and relevant regarding the environmental impact of clinical waste.

Highly commended

By Matilda, 11, Didcot Girls’ School, Oxfordshire

Matilda’s collage spells out ‘T1D’ – which stands for Type 1 Diabetes – and the drop of blood indicates the number of fingerpricks and injections that people with T1D have to do to keep blood glucose levels in a healthy range. The collage is made from some of the paper and plastic waste materials that are needed to manage health over a three-month period. These materials are the packaging for things like insulin vials, continuous glucose monitor sensors, infusion sets, cannulas and glucose tablets.

The judges thought this was an amazingly creative use of waste material from diabetes care, and a compelling example of how attempts to make medicine more sustainable are clearly really important but must not come at the expense of people’s health. We thought this was a very clever and original artwork.

Highly commended

By Giselle, 13, Harris Girls’ Academy, Bromley

Giselle wrote ‘The shattered pills, tubes and packaging represent pharmaceutical waste. When medicines are disposed of improperly, they enter the environment, contaminating soil and water systems, affecting wildlife and ecosystems. The silhouette of the human figure, combined with the heart and vibrant flower, symbolizes the personal and emotional toll of medicine on the individual. Personalised medicine focuses on tailoring treatments to specific people, but it can also have profound psychological and physical effects, as represented by the heart wound. In summary, my piece emphasises the duality of personalised medicine – its ability to help individuals heal, but also its unintended negative impact on the environment’.

The judges loved how this insightful entry portrayed how personalised medicine might have costs in some areas and benefits in others.

Highly commended

By Evangeline, 13, Worksop College, Nottinghamshire

Evangeline’s art focuses on the impact of personalised medicine waste on aquatic life. The judges enjoyed her skillful drawing and use of collage, and felt this entry was very relevant, direct and original.

Highly commended

By Kirat, 13, Guru Nanak Sikh Academy, London

Kirat’s engaging sculpture showcases positive and negative impacts of personalised medicine on our planet. The judges enjoyed the 3D model and how it portrayed both opportunities and challenges.

Highly commended

By Saanvi, 12, Wallington High School for Girls, Surrey

Saanvi explained ‘I created a painting on how personalised medicine on the planet is affected by the use of AI. In the middle of my artwork, I depicted a face, split in half, one side a robot, the other a doctor. This represents the state of the world right now as artificial intelligence has begun to take over the research in this field. Research to develop personalised medicine often involves lots of data and working with data uses computers which affects the carbon footprint of the planet. Surrounding the face are detailed DNA double helix structures which resembles the complexity and depth of AI influence in personalised medicine across the planet.’

The judges were struck by Saanvi’s focus on AI and data, and impressed by the level of artistry shown in this entry, which depicts the important connection between the data powering advances in personalised medicine and its impact on the planet.

Many congratulations to our winners and finalists, and thank you to everyone to entered or supported the Centre for Personalised Medicine 2024-25 Art Competition. As always it’s been wonderful to see the incredible talent and effort that young people have put into these thought-provoking pieces.

We’re planning to display these entries at an upcoming ‘Net Zero’ CPM event, and a selection of winning entries from this year, as well as 2022-23, and 2023-24 at the Churchill Hospital in Oxford this Spring. We hope to run the competition again next year, so please keep an eye on our website for the details!

Exploring Trustworthy AI in Personalised Medicine: Workshop Highlights

On November 12th, 2024, St. Anne’s College, Oxford, hosted the “Auditing Accountability in Trustworthy Artificial Intelligence with Applications in Personalised Medicine” workshop. This dynamic event united practitioners, stakeholders and research leaders across healthcare, computer science, policy, law, ethics, and social sciences. Organised by the Governance of Emerging Technologies Team and the Oxford Centre for Personalised Medicine, the workshop aimed to address the pressing challenges associated with evaluating and implementing trustworthy AI in personalised medicine.

The day opened with thought-provoking keynote presentations from Matthias Braun (University of Bonn) and Anja Thieme (Microsoft Research Cambridge) who explored the ethical and technical challenges of human-centered AI with applications in radiology. A lively panel discussion followed, featuring Chris Russell, Andrew Soltan, Anja Thieme, and Barbara Prainsack, who examined the technical hurdles of applying AI in real-world scenarios. The session, moderated by Kai Rawal, provided a platform for robust interdisciplinary dialogue. The subsequent sessions investigated the intersection of AI, ethics, and fairness. Angeliki Kerasidou (University of Oxford) offered an engaging exploration of trust and expertise in AI-assisted healthcare. You can watch the recording here. Barbara Prainsack (University of Vienna) contextualized personalised and precision medicine within the digital age, emphasizing the need for humanistic approaches, broader accountability, and stronger public value orientation of AI alongside technological advances. You can watch the recording here.

Following lunch, the technical challenges of implementing fairness in machine learning were considered with talks from Timothy Hospedales (Samsung Research and University of Edinburgh) and Eoin Delaney (University of Oxford), who introduced the OxonFair fairness toolkit. Next, a captivating panel discussion on AI ethics and law brought together Ignacio Cofone, Matthias Braun, and Mirjam Plantinga, and was expertly moderated by Sandra Wachter. The dialogue underscored the need for robust legal frameworks and ethical considerations in deploying AI systems. The workshop concluded with a keynote from Zachary Lipton (Abridge and CMU), who shared insights into the technical challenges tackled by Abridge in revolutionizing healthcare through AI. The day closed on a convivial note with a drinks reception, fostering further collaboration, and a delightful dinner hosted by St. Anne’s College for speakers and organizers.

This workshop served as a testament to the power of interdisciplinary collaboration in navigating the complexities of trustworthy AI in personalised medicine. The conversations and insights shared will undoubtedly shape the future of AI in healthcare, ensuring it remains both innovative and ethically grounded.

Songs of Genomics

On Saturday 2nd November 2024, in collaboration with HIVE Choir, a vocal ensemble based in Belfast, we hosted Songs of Genomics at Pegasus Theatre.

Together with HIVE Choir we transformed our research into songs that capture the complexities of genomics medicine. The choir performed these songs, featuring new pieces created during a workshop earlier in the day with individuals affected by genomic testing. The performance was followed by an engaging panel discussion.   

A video of the highlights from this event can be found here.

The Songbook can be found here.

Genetics and insurance: Complexities in the genomic era

This event took place on 15th May 2024, at the Wellcome Collection, London. Below is the programme and some background information; a summary paper can be found here.

10:30 – 11:30 Session 1 – Chair: Professor Anneke Lucassen
Introduction: Anneke Lucassen, CPM
2023 consultation and its findings: Ana Hallgarten la Casta, DHSC
A summary of patients’ and families’ experiences and concerns: Sophie Peet, Genetic Alliance
Emerging challenges: Dr Padraig Dixon, CPM
Insurance industry view: William Meredew, ABI

11:30 – 11:45 Coffee

11:45 – 12:45 Session 2 – Chair: Professor Michael Parker, University of Oxford
Q+A session for all speakers from first session

12:45 – 13:30 Lunch

13:30 – 15:00 Session 3 – Chair: Sophie Peet, Genetics Alliance
Focused conversations

15:00 – 15:20 Coffee

15:20 – 16:00 Session 4 – Chaired by Tara Clancy, BSGM

Summary, conclusion, and final reflections

BRIEFING NOTE

Background information

This event was jointly organised and supported by the Centre for Personalised Medicine at Oxford and the British Society for Genetic Medicine. The focus for the event was on existing and emerging issues that might challenge current arrangements in the UK about how genetic information can, and should, be used for insurance purposes.

There is a long-standing concern that people might be treated differently or in some sense unfairly because of their genetic background. This might involve being denied access to insurance or being offered lower coverage or higher costs. People may also avoid genetic testing, even where this might be beneficial (e.g. to access extra screening), because of how they perceive it might affect their insurance. On the other hand, if insurance companies can’t use any genetic information to price their policies, this could lead to price increases or unavailability of certain types of insurance plans. Insurers might exit from parts of the market.

Reports from the operation of the Code on Genetic testing and Insurance (see further reading) in the UK show that, for now, genetic information has not had wide-ranging impacts on insurance decisions in the UK, although there are many examples of individuals experiencing difficulties in accessing affordable insurance. Nevertheless, there is a strong case for considering if the current arrangements are fit for purpose because of recent expansions in the scale, speed and sophistication of genetic testing.

Genetic testing: some key information

Genetics involves studying genes and their impact on health. Genomics involves studying the whole genome (both genes and non-coding regions). In practice they are overlapping terms and often used interchangeably. We use the term ‘genetics’ in this document for reasons of continuity and consistency with the Code on Genetic Testing and Insurance.

Each of us has around 5 million genetic variants. Many of these variants contribute to human diversity and do not influence health. Others may subtly, or significantly, increase the chance of certain conditions or how someone responds to medication. Variants can be inherited from parents or can occur for the first time in an individual (i.e. are not inherited from parents).  

Genetic tests look for variants. The results of a genetic test can be

Different members of a family may have the same variant linked to a condition (for example a BRCA1 gene variant) but not everyone will develop the condition, or people might have more or less symptoms or complications of the condition. This is known as penetrance and expressivity: a genetic variant with less than 100% penetrance will not cause the disease in everyone who has it; a variant with variable expressivity can lead to mild symptoms in some people and severe symptoms in others. Reduced penetrance and variable expressivity are likely to be due to a combination of genetic, environmental and lifestyle factors; many of these other factors are not yet known and/or cannot be measured.

There are many different types of genetic tests, including diagnostic tests, predictive tests, pharmacogenomic tests and polygenic risk scores.

Common diseases, such as heart disease, cancer or diabetes, are influenced by genetic, environmental and other factors. About 20-30% of the risk of common diseases is explained by genetic variants. These variants are usually weak risk factors individually, but thousands of variants together may explain an important part of the genetic component to common disease.  Polygenic risk scores (PRS) measure the contribution of these multiple variants to risk. PRS may, when taken together with other risk factors such as age, enable more targeted screening or other interventions.

Life insurance, critical illness insurance and income protection insurance: some key information

Life insurance pays a lump sum on the insured person’s death. Critical illness insurance pays a sum assured on occurrence/diagnosis of a specified list of serious illnesses, e.g. cancer. Income protection insurance pays out a regular amount to replace a portion of income if a person is unable to work because of injury or illness.

These types of insurance serves as a safeguard for individuals against the harmful financial impact of unforeseen or unpredictable events. Prolonged serious illness and death are foreseeable to some extent, but their timing and impact are largely unpredictable. Insurance involves the pooling of risk by individuals at risk of particular events who contribute premiums to a risk pool. Individuals who suffer the event are compensated from the risk pool.

Within this risk pool, the collective contributions of the majority, who do not file claims, support the expenses incurred by the minority who do. For life insurance, the principles of risk pooling also apply, but the payouts are to the beneficiaries (such as spouses or dependents).

The premiums of risk-rated insurance contracts reflect the likelihood of a prospective policyholder experiencing an insurable event and the associated costs borne by the insurer. Greater assessed risk typically translates to higher premiums and/or more stringent contract terms. Lower assessed risk generally results in more favourable terms and lower premiums. Actuarially, a fair insurance contract accurately appraises and prices risk.

Persistent mispricing of insurance, by either overcharging or undercharging certain groups relative to their risk exposure and associated costs, places insurers at a competitive disadvantage and is ultimately unsustainable.

The Code on Genetic testing and Insurance (the “Code”): some key information  

In the 1990s, the increasing use of genetic tests and concern over their implications for access and costs of insurance led to the “Genetic Testing Code of Practice”, published in December 1997. This has been updated over time and is now known as the Code on Genetic testing and Insurance. It covers two main types of genetic tests, which are defined in the Code as follows:

The Code applies to life insurance, critical illness, and income protection. It has two main principles:

At present, the only condition for which insurers may ask for and take account of predictive test results is Huntington’s disease in applications for life insurance policies totalling over £500,000.

The Code doesn’t stop insurance companies from using family history (and other factors such as age) to assess disease risk.

Explanation of terms

DNA (deoxyribonucleic acid): the molecule that contains/encodes genetic information

Gene: a DNA sequence that usually codes for a protein or component of a protein

Genetic variants: changes in a gene that can lead to the protein it codes for not working properly or not being formed

Polygenic: multiple genes   

Proteins: large complex molecules that play critical roles in how the body functions

Some further reading

Code on Genetic Testing and Insurance, https://www.abi.org.uk/data-and-resources/tools-and-resources/genetics/code-on-genetic-testing-and-insurance/

Code on Genetic Testing and Insurance: the government’s annual report 2023: https://www.gov.uk/government/publications/code-on-genetic-testing-and-insurance-annual-report-2023/code-on-genetic-testing-and-insurance-the-governments-annual-report-2023

Code on Genetic Testing and Insurance: call for evidence: https://www.gov.uk/government/calls-for-evidence/code-on-genetic-testing-and-insurance-call-for-evidence/code-on-genetic-testing-and-insurance-call-for-evidence

Dixon P, Horton R, Newman W, McDermott J, Lucassen A, Genomics and Insurance in the United Kingdom: Increasing Complexity and Emerging Challenges, Health Economics, Policy, and Law, in press. https://dx.doi.org/10.1017/S1744133124000070

Results of the Code on Genetic Testing and Insurance call for evidence  https://www.gov.uk/government/calls-for-evidence/code-on-genetic-testing-and-insurance-call-for-evidence/outcome/results-of-the-code-on-genetic-testing-and-insurance-call-for-evidence

The full report from the event can be found below.

Familial Disclosure event

Outline

The PHG Foundation, Cambridge, and the Centre for Personalised Medicine at the University of Oxford, in association with the British Society for Genetic Medicine, held a half-day meeting on 23 November 2023 at St Anne’s College, Oxford, on the legal and ethical challenges raised by the discovery of familial genomic information in healthcare through the testing of an individual. This document was a starting point for discussion and agreement on focus and format for the meeting as well as planned outputs and background material.

Background

The question of how genetic and genomic test results that are relevant to more than one family member should be managed has been a topic of debate for several decades in healthcare. However, the difficulties of balancing duties of care where information revealed is both personal and at the same time familial, continues to place clinicians in uncertain situations.

Such issues arise in at least half of all cases discussed at the UK Genethics Forum – a multidisciplinary discussion forum for health professionals, which has held 70 meetings over more than two decades. Professional guidelines such as those from the General Medical Council have long recommended a balancing exercise between one patient’s confidentiality and the prevention of harm to another.  However, the governing legal framework (including common law and legislation relating to patient confidentiality, privacy, human rights, personal data and professional responsibilities) did not offer unambiguous support for this. The seminal 2020 judgment of the High Court in ABC v St George’s Healthcare NHS Trust sets an important precedent by establishing a legal duty to consider disclosure of confidential information without consent if another person is at risk of serious harm in certain circumstances.  But the nuances of this judgment and its precise implications are not necessarily clear to all working in healthcare, or hospital legal teams often called upon to advise. Challenges relating to other aspects of the legal framework (such as how to reconcile multiple individual interests in relation to the same ‘personal data’ under data protection law) also remain.

Approaches that frame the duty of confidentiality differently have been proposed but not yet widely adopted in clinical practice. For example, whether it is possible to alert relatives of their risks without breaching the confidences of another.[1]  Debate continues about the appropriate nature and scope of professional and ethical obligations[2] and relevant conceptual underpinnings, such as the extent to which relational aspects to autonomy should guide decision-making in this area.[3]  

Achieving greater understanding and consensus in relation to these topics could have significant value for professional guidance, professional practice and even the determination of future legal claims or legislative reform. 

The event

Revisiting the legal and ethical framework surrounding familial genomic information in healthcare and research

Who attended?

Format

[1] Alerting relatives about heritable risks: the limits of confidentiality | The BMJ

[2] Lucassen, A, and Clarke A . “In the family: access to, and communication of, familial information in clinical practice.” Human Genetics 141.5 (2022): 1053-1058.

[3] Dove, Edward S., et al. “Beyond individualism: Is there a place for relational autonomy in clinical practice and research?.” Clinical ethics 12.3 (2017): 150-165.

[4] Consent-and-confidentiality-in-genomic-medicine-July-2019.pdf (rcpath.org)

Centre for Personalised Medicine Art Competition 2023-24

In the second year of the competition, we looked at screening newborn babies for disease. All babies born in the UK are offered tests shortly after birth to check for health issues:

Currently, the Newborn Genomes Programme is exploring how looking at a baby’s genetic code might help with checking them for diseases. This sort of testing can look for a lot of diseases at once, but the results might be less clear as we are still learning how a person’s genetic code links to the illnesses they develop.

The video introducing the competition can be found here.

The artworks were judged on:

A huge thank you to the judges; Dr Rachel Horton (CPM Junior Research Fellow), Dr Ali Kay (CPM Junior Research Fellow), Dr Kate Keohane (St Anne’s College/Ruskin School of Art), Brian Mackenwells (Centre for Human Genetics), Melville Nyatondo (Oxford Personalised Medicine Society) and Taisiia Sazonova (Oxford Personalised Medicine Society).

We were so impressed with the quality of the entries we received. This blog post talks through the winners and finalists – we hope you enjoy these thought-provoking entries as much as we did.

Winner

Our winning entry is this fantastic piece by Laranya, aged 13 from Worksop College, Nottinghamshire. Laranya produced this artwork using the letters ATGC – the types of bases found in a DNA molecule. Laranya wrote, ‘When viewing the picture up close you only see the letters, but when you look from a distance you can see the face of the baby. This shows that when examining our DNA, you must look with a microscope, and these tiny proteins make up a whole person.’

The judges were captivated by this impressive piece of art, and thought it was great how it showed the challenge of detecting health relevant genetic variation.

Runner-up

Our runner-up is this thought-provoking entry from Scarlett, aged 12 from Worksop College, Nottinghamshire. Scarlett wrote. ‘I created a painting that explores the connection between a baby’s future and their genetic makeup. In the centre of the artwork, I depicted a cute baby positioned behind a prominent DNA double helix. The double helix appears like a protective cell, symbolizing the delicate nature of a newborn’s life. Surrounding the baby and the DNA structure are intricate double helix patterns, illustrating the complexity of genetic testing. The intertwining patterns convey the idea that our genes hold a blueprint for our future.’

The judges really liked this artwork, and how it covered the complexities of newborn screening in a captivating and evocative way.

Highly Commended

We were really lucky to receive so many great entries from incredibly talented students – all the following artworks were highly commended by the judges.

Parampreet, aged 11 from Higham Lane School, Warwickshire. The judges thought this was a very vibrant and eye-catching piece covering different elements of health monitoring for newborns.

Rayan, aged 13 from Oaklands Secondary School, London. The judges really liked how colourful and informative this entry was.

Alexa, aged 14 from Worksop College, Nottinghamshire. The judges were really impressed by this illustration, and how the use of colour conveys the heavy emotions that come with newborn screening.

Lewis, aged 13 from Biddick Academy, Tyne and Wear. Lewis wrote, ‘My artwork was inspired by the checks performed at birth to newborns. The colours were inspired by the typical colours of blankets and hats in hospital nurseries and neonatal intensive care units.’ The judges really liked the originality of this entry.

Gracie, aged 12 from Worksop College, Nottinghamshire. The judges thought this entry was very informative, and it was good to show the pros and cons surrounding the newborn screening topic.

Alexis, aged 11 from Glenthorne High School, Surrey. The judges thought this was a great painting.

Lucas, aged 12 from Worksop College, Nottinghamshire. The judges liked how this artwork showcased the double-edged nature of expanding newborn screening. They thought this entry showed a lot of skill, whilst being very informative.

Beckah, aged 12 from Worksop College, Nottinghamshire. The judges liked how this entry emphasised the public health aspect, with lots of babies undergoing the heelprick test.

Ahona, aged 13 from Francis Holland School, London. Ahona wrote, ‘I decided to represent the different diseases or viruses that are found in the blood during the blood test of screening babies, and illustrating what the shape of the blood cell or virus would be.’ The judges thought this was a great entry displaying the power of just how much a small bit of blood can uncover.

Florence, aged 12 from Worksop College, Nottinghamshire. The judges thought this was a lovely painting and nice composition.

Nadia, aged 11, from Cheney School, Oxfordshire. The judges liked how this drawing showed the potential impact of newborn screening, with significant emotional impact but also the hope that hearing difficult information now will keep the baby safe in the future.

Ariyan, aged 13 from Oaklands Secondary School, London. The judges thought this entry was very informative. Ariyan wrote about how their entry showed the screening of a baby from the heel prick test through to looking at DNA.

Izzy, aged 13 from Worksop College, Nottinghamshire. The judges liked how this picture highlighted various different issues that might come to light via newborn screening.

Highly commended: Daisy, aged 14 from Worksop College, Nottinghamshire. The judges really admired the artistry of this painting.

Congratulations to all of our winners and finalists, and thank you to everyone who entered this year’s competition.