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

• positive: variant(s) known to cause the condition are found
• negative: variant(s) known to cause the condition are not found
• uncertain: variant(s) are found that are of unknown or uncertain significance; this means there isn’t enough information about the variant to establish if it does or does not influence the condition

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.

• Diagnostic genetic tests are usually offered when an individual has symptoms that suggest they have a particular condition. These tests usually give a positive or negative result.

• Predictive (sometimes called presymptomatic) tests are often offered when an individual has a family history of a genetic condition and a variant known to cause that condition has been identified in a relative. However, direct to consumer genetic tests, for example, may provide predictive results outside this setting.

• Pharmacogenomic tests are offered to provide information about how an individual will respond to medication. This includes information about whether a particular drug will be effective or how likely it is to cause significant side-effects.  Just like other genetic tests, the results of these may be strongly or weakly predictive.

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:

• Diagnostic tests: “confirm or rule out a diagnosis based on existing symptoms, signs or abnormal non-genetic test results which indicate that the condition in question may be present.”
• Predictive tests: “predict a future risk of disease in individuals without symptoms of a genetic disorder.”

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

• Insurance companies can’t require or pressure people to take diagnostic or predictive genetic tests to obtain insurance.
• For predictive tests, insurers can only consider the results if the test is listed in the Code and if the amount of insurance requested is over a certain limit.

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

• The event considered the ethical aspects and legal framework governing familial genomic information in research and care, as well as professional responses to, and implications of, the ruling in ABC v St George’s Healthcare NHS Trust.
• It involved discussion of competing conceptions of autonomy, confidentiality and privacy in the genomic context and implications for practice as well as the existing legal framework.
• The aim of the meeting was to generate recommendations for areas of further research into patient/public thinking about these ethical and legal aspects, as well as highlighting policy considerations for professional bodies and those involved in law reform.

Who attended?

• The event assembled a mix of legal and clinical professionals, academic experts and representatives of professional bodies responsible for relevant guidance
• This included academics active in this area, legal experts in relation to relevant areas of law (Data, Privacy/confidentiality), genomics professionals and representatives of relevant initiatives (e.g. GEL) and bodies (e.g. law commission, Information Commissioner’s Office).
• Whilst we had hoped to incorporate international perspectives  from other countries/jurisdictions/health systems to provide insight from alternative and related  perspectives in the long term, this meeting was focused on the UK landscape and the analysis of how the ABC versus St George’s case has been interpreted thus far

Format

• An afternoon workshop of ~ 45 people in Oxford with Sessions around ethico-legal aspects (e.g. confidentiality, data protection) and examples of how the issue arises in clinical examples practice.
• A briefing to outline relevant ethical and legal issues and framework, acknowledging the context of genomic information being generated and stored at ever increasing scale in research and healthcare (e.g. Newborn sequencing initiatives).
• A meeting Report providing a high-level summary of presentations/discussions and key conclusions/recommendations, including priorities for further research/deliberation.
• It is hoped the outputs of this meeting will help inform revision of the Joint Committee of Genomics in Medicine report on consent and confidentiality in genetic medicine (2019)[4]

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[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:

• They have a baby check after birth, then again when they are six weeks old where a clinician checks them over looking for issues like heart murmurs, eye problems or clicky hips
• They have a bloodspot test at around five days old where some drops of blood are collected from their heel. This blood is tested for nine rare conditions where treatment before the baby begins to seem poorly is important to help the baby stay as healthy as they can.

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.

• A small number of babies will be found to have a disease that can be treated better the earlier you know about it
• For some babies, screening might raise worries that they will become unwell at some point in the future, but it might take years until we can be sure whether they actually will get ill or not
• For most babies, screening won’t raise any health worries, but their genetic code will become part of the project database.

The video introducing the competition can be found here.

The artworks were judged on:

• Relevance – does the image communicate something important about screening newborn babies for disease?

• Originality – does the image make you think about newborn screening in new or challenging ways?

• Artistry – does the image capture your attention and make you want to find out more?

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.

Christmas wishes from the CPM

All of us at the CPM would like to wish you a very Merry Christmas and best wishes for the New Year.

To get you into the spirit, with a bit of a CPM twist, here is a poem written by Junior Research Fellow Rachel Horton.

The Christmas Genome

Twas the night before Christmas, and all through the lab
The equipment was quiet, the décor was drab
I was packing some samples into the fridge
Though actually it was a bit of a squidge

When from the machines there arose such a clatter
I sprang from my chair to see what was the matter
The sequencer churned and it rumbled and whirred
It made so much data my eyes felt all blurred

It tried to print out near five million changes
Looking through the whole lot would have taken me ages
I grabbed for a filter and shoved it on quick
But not fast enough for the data to stick

I nervously checked on the sample ID
It was for Father Christmas – what sad news for me
I stared at the variants worried and stressed
What should I do? And what would be best?

He’d asked for a test for his tinsellitis
But the genome had answered a lot more besides this
Should I tell him a cancer gene looked a bit risky?
He might want some screening; cut down on the whisky?

And poor Mrs Claus: would she get neurosis
If she knew her husband carried cystic fibrosis?
It was a disaster – it all looked so bad
How was he alive with the variants he had?

I rang up a colleague: they said ‘that sounds rough!
Lets ask more opinions – this decision is tough’
So all of us met on a cold winter’s night
And talked it all through as to what would be right

Could we just ask him? Would he freak out?
Would we ruin his Christmas with this sorry handout?
And what would it mean for his job and his wife?
What might these findings do to his life?

It’s the night after Christmas and we still can’t decide
But we’re anxious and stressed and we really have tried
We’ve thought long and hard and we’ve tried to consult
But we still just don’t know – what is his result?

Rachel first shared this poem on her personal website here.

Centre for Personalised Medicine Art Competition 2022-23

Earlier this year, the CPM ran an art competition, asking students in Years 7 to 9 in UK schools to send in art around a theme of ‘measurements in health and disease’ (follow this link to see a video introducing the competition). We were so delighted and 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 pictures as much as we did.

Winner

Our winning entry is this stunning artwork created by Aneesa, aged 12, from Oxford High School in Oxfordshire:

Aneesa wrote ‘My artwork, “A Lifetime of Measures” represents everything I learnt about personalised medicine and the fascinating ways changes in health are monitored and conditions identified. I realised traditional measures such as scales or thermometers are not obsolete but complementary to modern measures to develop and provide the right treatment for each person. The “digital twin” is a focus as it is a way to capture all the measurements and use these to assess health risks over time. My art shows how important DNA analysis is and how age, sex and ethnicity though simple are important when deciding the best treatment. It shows measures are important at different stages of life and may mean different things at different stages. I noticed that many chemicals used as medicines have hexagonal rings, so I decided to choose a hexagon pattern for my background to represent known and future personalised medicines.‘

The judges were so impressed with Aneesa’s entry and how it conveyed the use of measurements throughout a lifetime, and the idea of the digital twin. We really enjoyed how it invites the viewer to reflect on so many different aspects of measurements in health and disease.

Runner-up

Our runner-up is this beautiful entry from the KS3 Art Club at Bartholomew School in West Oxfordshire:

The Art Club explained that ‘The unique identity of every student who has been involved in this piece of art is represented by a single petri dish. The characteristic we have chosen to represent the measurement of health and disease is our genome. Our petri dish cell art contains many facets of our individuality, from our fingerprints to our genetic code. Each strand of our DNA contains mutations which are unique, communicating our individuality with precision. This information will allow physicians to predict and prevent future disease, personalising and targeting intervention.‘

The judges thought this entry was really attractive and thought-provoking, and we loved the way that the students had clearly worked together to create something very striking that beautifully illustrates the uniqueness of each person’s medical measurements but also the benefits of looking at these measurements across groups of people.

Highly Commended

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

Maanashi, aged 13, from Durham High School in County Durham, sent in this particularly moving entry. Maanashi explained that ‘My artwork shows a patient at the hospital during the COVID-19 pandemic, where a hospital monitor is measuring their heart rate/ temperature/ blood pressure etc. This hospital monitor and its machines are what doctors and nurses are depending on, for the right readings and to save a life that is on the line. But my artwork also shows the people at home who are anticipating every next minute, those who are hoping to be reunited with their loved ones again.‘ The judges loved how Maanashi illustrated the role of medical measurements in guiding care for a person who is really ill, but also how the importance of the person goes so far beyond just measurements.

Esmee, aged 12, from King Edward VI High School for Girls in the West Midlands, drew this beautiful picture. She wrote that ‘My artwork shows a person who feels well and enjoying life who gets sepsis. The measurements show the changes in measurements that happen between being well and having a bacterial infection.‘ The judges were really impressed by how Esmee’s entry contrasted measurements in health and disease.

Nelly, aged 12, from Nicholas Breakspear Catholic School in Hertfordshire, contributed this striking illustration. Nelly wrote ‘My artwork shows a variety of different measurements used as health care procedures for a baby. For my drawing I used coloured pencils and pens. I have incorporated realism and a bit of scribbling too. My drawing also displays shadows, highlights and mid-tones.‘ The judges really liked how Nelly’s picture shows that medical measurements are part of our life long before we become aware of them and start to understand them.

Anaya, aged 14, from Cardiff High School, sent in this very informative entry. The judges were struck by the way this piece showed various measuring devices all contributing to an overall balance between health and disease, and also how Anaya highlighted various challenging aspects relating to measurements, for example showing a person overwhelmed by undergoing lots of unnecessary measurements, and raising the difficulty of measuring emotions.

Jack, aged 11, from Garth Hill College in Berkshire, sent in this powerful entry. Jack explained ‘This piece of art is about the importance of keeping your heart healthy and how some people refuse to have certain measurements taken and how that can affect their health. It could also prevent doctors from seeing important details which could help catch illness and diseases before they get more serious.‘ Jack’s image really grabbed the judges’ attention and we loved how it showcased the importance of medical measurements.

Trisha, aged 12, from Tiffin Girls School, created this very evocative artwork. The judges really liked how it showed a girl experiencing a medical measurement but also made us think about what it was like for her feeling ill.

Congratulations to our winners and finalists, and thank you to everyone who entered or supported this year’s Centre for Personalised Medicine schools art competition. We so enjoyed looking at these wonderful entries and they really made us think about measurements in health and disease in new and interesting ways.

We are making plans for exhibiting the best competition entries in Oxford over the course of the year – please follow us on Twitter for updates regarding this. We hope to run the competition again in future years.

A Genomics England & Centre for Personalised Medicine Collaboration: Ethical, Legal and Social Issues in Diversifying Data

Despite the huge advances in technologies that have enabled cheaper, more routine and widespread use of genomics in healthcare, the datasets that underpin the majority of genomic insights, remain built on those  dominated by individuals from Western countries, of European ancestry. The research and clinical impacts of this vary and include: misclassification of variant pathogenicity, more Variants of Unknown Significance (VUSs) in non-Europeans or potential inequalities driven by polygenic score-informed screening, developed on non-representative populations. The need to diversify genomic data and improve the evidence-base for genomics-enabled personalised medicine goes beyond merely collecting more data, but draws in a range of ethical, legal and social issues including but not limited to: consent, societal implications, implications regarding health inequity and personal responsibility, language and concepts, potential beneficiaries, public-private partnerships and data governance. 

This context underpins the rationale behind the creation of Diverse Data,  a new initiative led by Genomics England that aims to reduce inequalities in genomic medicine, and improve genomic outcomes for underserved communities. It also drives home the centrality of embedding ethics into all aspects of initiatives that aim to improve equity and diversity in genomics, to ensure that any efforts are as robust as possible in their aims, governance, design, and delivery. 

There are of course, huge benefits of setting up initiatives from scratch; you benefit from advances in technology in a space where a few years makes all the difference, you can make new and fresh collaborations and connections as “the new kid on the block”, and you can stand on the shoulders of global efforts by learning from the insights and hard work of others from previous years and decades. “The road to hell is paved with good intentions”, or more more recently said and specifically related to genomics, Adam Rutherford in his latest book Control: The Dark History and Troubling Present of Eugenics wrote:  “We must always expect science to be misrepresented, overstated and misunderstood, because it is complex, because the data is unending, and because people are strange”. Whilst the ambitions of the Diverse Data initiative are well-intentioned, there are many many ways in which such a programme could not do good, or even worse, cause harm. 

Some examples of important ethical questions that were raised early for us include:

• The true or the perceived risk of creating a link between race and genomics, including the potential for this work to be misconstrued as giving scientific backing to such a link. 
• The risk of misunderstanding health inequalities by focusing on genomic diversity in the absence of wider socio-economic factors such as deprivation
• The potential negative impacts of new, additional burden from personalised medicine, in the face of poor health outcomes better addressed through other means, largely affecting social determinants of health. 
• The potential unforeseen or unintended consequence of using a consent model that is not adapted or designed to be culturally tailored for participants

In order to have the broadest and most systematic understanding of potential risks, the Diverse Data initiative commissioned a review into the potential unintended consequences of efforts to diversify genomic data, and we were thrilled that Clinical Ethics, Law and Society at the University of Southampton (CELS) and the Centre for Personalised Medicine at the University of Oxford (CPM), from a hugely rich and high-quality number of submissions, undertook the project. 

The CELS/CPM team worked at full speed, reviewing the literature, running workshops, conducting interviews and supporting a deliberative conversation between researchers and participants.

Here are the key takeaways:

1. Research practices are often  exclusionary

Many research practices are exclusionary and need to change.  Examples include approaches to recruitment or data collection that do not consider the cultural setting in which potential participants are situated. Research also often lacks reflexivity about diversity on the part of researchers and research institutions.

2. Co-design is key

Co-design is key to identifying and avoiding potential problems around data diversification. This requires an understanding of the concerns of underserved individuals and communities regarding exploitation and stigmatisation, as well as issues of data ownership and sovereignty. Without attention to group as well as individual concerns, participant engagement may become tokenistic which in turn risks exacerbating existing, as well as creating new, inequalities.

3. It is crucial to contextualise these efforts within wider structural issues 

There are wider structural issues that influence researchers’ and participants’ attempts to generate diverse data. For example, (a) some researchers view data as neutral, but this ignores the social construction of data and technologies, and their tendencies to reflect societal inequalities. (b). Efforts to diversify data should be contextualised within the historical trajectory of structural racism and legacies of colonialism. (c) Classification and categorisation of populations have political consequences and need to be closely interrogated.

4. Conclusion

The review concluded that it is important to move actions beyond the recruitment of individuals from under-represented groups as the endpoint. Having more diverse datasets is not inherently more ethical. This is because if the broader historical, political, legal or social factors that shape the environments of potential participants are ignored, the risk of existing inequities being exacerbated remains high. These were extensively detailed as well as key recommendations for the Diverse Data initiative as it embarked on an ambitious, but ethically complex path. 

These recommendations included:

• Positioning ethics at the forefront of research and through, but in doing so, ensuring that it is seen more than just gaining research or institutional review board approval;
• Co-design should be at the heart of these initiatives, with participants as active researchers and knowledge makers;
• Shifting the focus from diversifying data towards enabling diverse ways of knowledge making, which must be largely driven by enabling a research culture that incentivises diversity through all aspects of the research process
• And of course, a re-iteration that data diversification needs to consider  the broader socio-political context.

We will be working on publishing numerous outputs spawned from this work over the coming year, including research papers that deep-dive into specific themes, as well as the publication of a roadmap for the practical implementation of ethics in data diversity activities so that initiatives, just like Diverse Data at Genomics England, can have a blue-print of what good practice might look like for us all to aim for. In addition this work has already helped the Diverse Data develop an ethics agenda and roadmap for the initiative, guide the design of future ethics work, and shape design elements of the programme.

Full report here.

If you’re interested in collaborating, or want to see early drafts of this emerging work, don’t hesitate to get in touch at diversedata@genomicsengland.co.uk and cpm@well.ox.ac.uk.

Announcing the winner of the CPM – St Anne’s Doodle competition

The Centre for Personalised Medicine recently ran a competition asking people who work or study at St Anne’s to send in sketches and paintings around a theme of ‘healthcare data’. We wrote about it in a previous blog post.

We’re delighted to announce the winning entry – these stunning paintings by Psychology and Philosophy undergraduate student Jake Mainwaring.

Jake writes: These paintings raise the debate: in the case of personal data, should the subject have the right to cover up something beautiful/useful (the painting underneath) if that would have bad consequences (e.g. data collected for research/statistical purposes being erased)?

Jake’s paintings vividly convey key challenges with collecting and using healthcare data responsibly: how can the beauty, complexity and nuance inherent in original data be retained while respecting the wishes and preserving the confidentiality of the person to whom those data relate?

We hope you enjoy these thought-provoking paintings as much as we did. Look out for future entries from our schools art competition, opening later this year!