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!

International Women’s Day 2022

Today, the 8th March 2022, is International Women’s Day. This day is used across the world to celebrate the cultural, political, and socioeconomic achievements of women. To mark the occasion, JRF Nicky Whiffin spoke to some of the incredibly inspiring women that work with the CPM, from members of the core CPM team to our fantastic external advisory board.

I feel very fortunate to be surrounded by fantastic female role models in the CPM. I asked six of these women three questions probing who inspires them, what they see as the key issues facing women in science today, and what advice they would give to their teenage selves. Whilst these women come from a range of backgrounds there are some strong parallels in their experiences and their advice.

Meet the incredible women 

Left to right, top to bottom in image above

• Professor Anneke Lucassen: Our wonderful director, Professor of Genomic Medicine and head of the Clinical Ethics and Law in Society (CELS) group at the Wellcome Centre for Human Genetics.
• Dr Frances Rawle: Member of the external advisor board and previously Director of Policy, Ethics and Governance at the Medical Research Council (MRC).
• Dr Katherine Wood: CPM Junior Research Fellow and postdoctoral researcher at the Weatherall Institute for Molecular Medicine (WIMM).
• Helen King: Chair of the CPM steering group and Principal of St Anne’s College, Oxford.
• Professor Cecilia Lindgren: Member of the CPM steering group, Professor of Genomic Endocrinology and Metabolism, and Director of the Big Data Institute (BDI).
• Catherine Lidbetter: Our amazing program coordinator who is responsible for the operational running and day-to-day development of the CPM.

 

Question 1: Do you have any awesome women role models? If so, who and why?

Role models have been hugely important in my own journey in science. “You can’t be what you can’t see” is the phrase often used to describe how we are much more likely to see ourselves in positions when we can relate to the people who are already there. Our six CPM women take their inspiration from women in all walks of life.

Frances “Having grown up in the 60s and early 70s seeing women of my mother’s generation either having a career or a family but not both, my role models were my female friends (in whatever profession) and colleagues who were managing to successfully balance building their careers at the same time as having young children.“

Helen “When I was a fairly junior police officer, women senior officers tended to come from the ‘formidable and intimidating leader’ mould. A fantastic woman Chief Inspector called Anne Pyke wasn’t like that. She was friendly, compassionate and fun, as well as being highly respected and professional. It was such a relief to see that I didn’t have to change who I was in order to be successful in my career.“

Cecilia “Growing into being a scientist Leena Peltonen, Unnur Thorsteeinsdottir and Nancy Cox were women I admired and looked up to a lot and still do admire massively (except Leena who has sadly passed).“

Anneke “My mother. She studied chemistry in the 1950s and published seminal papers in her field of surface chemistry over nearly 50 years. Many had her home address as affiliation since she declined posts in the UK when the salary offered was half that of my father’s who had the same experience. My mother’s indignance at this sex discrimination was embarrassing as a teenager, but inspired me as an adult.“

Katherine “Professor Anne Goriely – Anne is an absolutely awesome supervisor who champions women in science and does everything she can to support the women in her life. Anne is extraordinarily caring, compassionate and kind, and while never celebrating her own outstanding achievements, she celebrates every success of those that she mentors. Anne’s own journey, from a degree in engineering (agronomy) to a PhD studying the development of the nervous system in Drosophila, to now a professor in human genetics, has been anything but linear; she is an outstanding researcher and mentor alike.“

Catherine “I found Jenny Douglas of the Open University inspiring when we worked on the CPM healthcare disparities conference. She wears her scholarship lightly and is so thoughtful in her interdisciplinary approach to race, ethnicity, gender and health.“

Question 2: What do you think is the greatest challenge for women in science today? How do we combat it?

Whilst in some ways we have made a lot of progress in equality between men and women in science, there are still some really key hurdles that we need to come together to tackle. Culture, juggling childcare, and unconscious bias were common themes across the answers to this question.

Anneke “That women still often have to acquire male attributes to succeed. We combat it by recognising that success in science can have many different forms. Appreciate teamwork: endorse we, not me, culture. Make science careers look attractive to early career researcher women and open to diverse personalities/attributes.“

Catherine “The greatest challenge I think (looking in) would still be the old chestnut of  juggling work with caring responsibilities, whether children or aged parents, or both, and life admin, etc.“

Frances “I think the greatest challenge for women, and indeed all early/mid career scientists, is to change the culture; to challenge discriminatory practices, to reduce the emphasis on the star players and increase the recognition of all those contributing to team science, to strive for and reward more effectively robust, reproducible science, to publish and value negative results. All this takes courage to risk the potential impact on your career of not playing by the established rules.“

Cecilia “I think (subconscious) bias against women manifesting itself in various ways is the biggest problem and we can combat this by raising awareness and discussing the issues often, offering external coaching mechanisms, and mentorship support (both peer mentorship and senior mentorship).“

Helen “I still think the greatest challenge for women is juggling, particularly if they have children or other caring responsibilities. Co-ordinating the instability, demands and opportunities of a research career, with the needs of others, perhaps including a partner’s career, whilst looking after your own mental and physical health, remains challenging and needs flexibility, creativity and compromise from all involved, including employers and group leaders.“

Katherine “I think one of the major issues we have is the problem of work-life balance and the difficulties of raising a family and being an academic. Taking a career break in the form of maternity leave to raise children inevitably leads to a “gap” in a woman’s CV without publications, where to the outside observer it appears that she was less productive. Once a woman has returned to work, managing the often long hours of research time, grant writing, paper writing, teaching etc can be extremely challenging and is often incompatible with raising small children. Coupled with the extremely high costs of childcare (even university-subsidised nursery places) compared to the average salary of a postdoc in the UK, it can make it very difficult for a woman to return to full-time research. We need to do more to support women who want an academic career and a family. The result of the leaky system also means there are simply fewer female role models in STEM subjects for the next generation to look up. If we want to encourage young girls to consider scientific careers, we need to ensure they have lots of awesome female scientists to be inspired by.“

Question 3: What advice would you give to your younger self?

Finally, I asked our six women what advice they would give to themselves as they were just finishing up school or starting university. The overwhelming theme running through these is to have more confidence in yourself and your abilities. So many women struggle with self-doubt. We can and should do more to build each other up and to tackle these insecurities in young women. 

Katherine “This one is simple! You CAN do it! There were so many times I doubted myself, or nearly didn’t apply for things because I thought my chances of success were very low. But unless you try, you will never know what your potential is! Better try and not succeed than don’t try at all!“

Helen “Probably to enjoy each current stage of your life a bit more, and worry about the future a little less!“

Cecilia “You are the best version of You there is and ever will be  – work on being authentically You and comfortable with that. I have struggled with imposter syndrome a lot (and still do at times), and coaching has helped me in finding my own voice and being calmly and kindly assertive, which feels amazing.“

Catherine “My advice to myself would be to trust my innate abilities, the ones I take for granted. Oh, and not to be too narrow in work focus.“

Anneke “Stop with the self doubt! Enjoy the career ride, see- rather than worry- where it takes you, meanderings and detours don’t matter, they enrich the end product.“

Frances “Have more confidence in your abilities. Find some good mentors.“

Thank you very much to all of the women across the CPM. You are all inspirational. And for anyone reading this, remember to believe in yourself. You have totally got this!

CPM – St Anne’s Doodle Competition

Blog post written (and doodles drawn) by Centre for Personalised Medicine Junior Research Fellow Rachel Horton

The Centre for Personalised Medicine is currently running a doodle competition for people at St Anne’s. (If you work or study at St Anne’s and you’re reading this before 28th February 2022, you’ve still got time to enter!)

The theme for the competition is ‘healthcare data’, and I’m really looking forward to seeing what people create, both because I’m sure it will help my own ideas around what healthcare data are and the interesting issues around them, but also because it’s a forerunner for a schools competition that I’m very excited about.

That said, ‘healthcare data’ in some ways feels like an inaccessible topic so I’m a bit nervous that people won’t see this as relevant to them. But the collection and use of healthcare data impact on everyone. We need data to understand and explore ways to improve healthcare, and we also need to consider what it means to be contributing data to such projects. What are the benefits and what are the risks?

For starters, what actually are healthcare data? We’d probably all agree on some aspects, like if you have your blood pressure measured by your GP, the measurement counts as ‘healthcare data’. But how about the information your phone might record about how many steps you’ve done today? Or the time you googled ‘what does croup cough sound like’? Or the information your local supermarket might have about how often they restocked the paracetamol this year?

When thinking about the healthcare data doodle competition, I had a go at a few doodles to try to draw out some thoughts around ‘healthcare data’ some a bit facetious and some more serious:

It’s interesting how many questions come up as soon as you start thinking about healthcare data, but somehow as a topic it perhaps looks a bit dry and distant from day-to-day life. How can we involve everyone in the decisions that we need to make as a society about how we collect and use healthcare data? The team at Understanding Patient Data is doing a lot of work on this, and it’s also an issue we’re really interested in at the Centre for Personalised Medicine (see animation here exploring using hospital data to improve healthcare).

If you work or study at St Anne’s, please join in and draw some doodles for our competition! But whether you’re based at St Anne’s or not, we’d love to hear more about what you think around these issues – how can we show everyone that they have experiences with and opinions about healthcare data, and that as a society we have choices to make as to how healthcare data is thought of, collected and used?

Introducing the CPM ‘vlog’ series

Last week, we launched a new flash interview “vlog” series. In this blog post, our Junior Research Fellow Dr Katherine Wood discusses the aims of these interviews and some of the key insights she took away from making the videos.

In this series, I have interviewed a range of different people involved in personalised medicine in one way or another, discussing their careers and their views on precision medicine now and in the future. These interviews will be released on a weekly basis so keep an eye on the CPM website and our Twitter feed (@CPMOxford) to ensure you don’t miss them! 

I have interviewed people from Professor Andrew Wilkie, a consultant in clinical genetics; to Dr Patrick Short, the CEO of Sano Genetics; and Professor Nina Hallowell, a professor of social and ethical aspects of genomics, to name but a few of our excellent speakers. The interviews covered many aspects of personalised medicine, from routine genetic testing in the clinic, the differences between academia and industry, the ethical implications of precision medicine, the role of bioinformaticians within the framework of large-scale genomics, and personalised therapies and pharmacogenetics.

One of the key themes which stood out to me was the difference in view between clinicians and academic researchers on the utility of genomic testing. Both Professor Andrew Wilkie and Dr Ed Blair raised the point that, from the perspective of a doctor, medicine has always been personalised and one would expect that whenever one sees a clinician, the care and treatment should be tailored towards the individual. While both highlighted the utility of targeted genetic testing for specific cases, there was scepticism about the role of widespread genomic screening in the clinic. On the other hand, both Dr Alex Geary and Dr Jamie Ellingford (bioinformaticians) hailed the exciting implications for research of being able to access and analyse vast quantities of DNA sequencing data. One key area many interviewees highlighted as a potential challenge going forward was the ability to process all the data we are collecting; is there really any point having so much information if we can’t analyse it all? Another interesting point raised by both Professor Andrew Wilkie and Professor Nina Hallowell was whether we should be investing so much into the genomics revolution at the expense of other factors which contribute to ill health (such as poor living conditions) or which we can test for simply and cheaply in the clinic (e.g. blood pressure). Overall, perhaps the take home message is that personalised medicine has many things to offer but it will not be the solution to everything!

On a different track, both Professor William Newman and Dr Andrew Douglas discussed the amazing potential of utilising “omic” data to tailor treatments to an individual. Professor Newman told us about the PALOH (Pharmacogenetics to Avoid Loss of Hearing) trial, a rapid point-of-care genetic test for newborn infants to prevent antibiotic-related hearing loss, while Dr Douglas’ discussion on antisense oligonucleotide therapies and the incredible successes there have been in the field so far left no doubt over the potential impact that tailored treatments can have on the patients’ lives. Finally, a particularly interesting chat with Dr Patrick Short from Sano Genetics highlighted the role that industry can and will play as we go forward with the personalised medicine revolution, and the fluidity between academia and industry these days. His careers advice for PhD students and postdocs is certainly worth a listen!

I really hope that you enjoy watching the videos and these snippets of insight into personalised medicine from many different perspectives! I certainly learned a lot making them.

Watch the Flash Interview Series here.

In conversation with Dame Mary Archer – CPM Podcast: Meet the Advisory Board Episode 2

The centre of personalised medicine podcast is hosted by Jiyoon Lee, president of the Oxford personalized medicine society and Dr Anika Knuppel, JRF at CPM.

In the second podcast episode as part of our meet the advisory board series, we had the honour to talk to Dame Mary Archer, who started her career as a chemist with a focus on sustainable energy production and solar energy conversion, and taught and researched at Oxford and Cambridge. When Dame Mary Archer left academia, she held a number of appointments, among them chairing Cambridge University Hospitals National Health Service (NHS) Foundation Trust and is currently chairing the Science Museum group. In 2012 she was appointed Dame Commander of the British Empire for her services to the NHS.

In our conversation with Dame Mary Archer we talked about her most notable career move and her views on the NHS and the future of the NHS. How having a grounding in science can be a perk in other industries, although “less usefully, it makes you obsess about details” making decision making hard at times. We discussed the role of science museums and why she now has considerable knowledge about railways. Furthermore, as a St Anne’s alumni, Dame Mary Archer could tell us about the changes in the university experience since leaving St Anne’s in 1966.

Finally, we spoke about personalised medicine and how the discovery of DNA has shaped our expectations of medical science and health. Dame Mary Archer’s career and personal health experience has given her a unique insight into the role of personalised medicine in patient decision making. She notes “Personalised medicine is here to stay, it is a force for good, increasingly powerful and should be a part of the clinicians and patients armoury in all appropriate cases to weigh that information and evidence and the balance what is the best way forward for that individual patient.”

Listen here for the full interview.

Dr Stanley Ho Memorial Lecture – Professor Jennifer Doudna

On the 2nd March 2021, the Centre for Personalised medicine was honoured to host Professor Jennifer Doudna to deliver the annual Dr Stanley Ho memorial lecture. Professor Doudna is an outstanding biochemical scientist who was the recipient of the 2020 Nobel Prize in Chemistry in conjunction with Professor Emmanuelle Charpentier, for their discovery and development of CRISPR-Cas9 gene editing technology.

CRISPR has revolutionised our ability to edit the sequence of DNA, which has important applications for understanding genetics and huge promise for treating human genetic disease. In this fascinating and engaging talk, Professor Doudna introduced how CRISPR-Cas9 was discovered and harnessed, from its origin within a bacterial immune system to its translation to human medical research (along with many, many other fields).

CRISPR stands for ‘clusters of regularly interspaced short palindromic repeats’. In simpler terms, this means a CRISPR sequence is made of repeating sequences of nucleotides (the building blocks of DNA). These repeats are separated by ‘spacers’. Unlike the repeated blocks, these spacers are variable. In bacteria, the original home of CRISPR, these variable regions are made up of DNA sequences taken from a virus the bacteria has encountered before.

If the bacterium is attacked again by this virus, this CRISPR DNA is transcribed, and RNA is transcribed from the CRISPR region. The produced crRNA (CRISPR RNA) then guides a ‘cutting enzyme’, Cas9, to the foreign virus’ DNA, damaging it, and preventing the virus from causing harm. It’s a basic immune system, and one which is very effective.

One of the overwhelming advantages of CRISPR-Cas9 editing compared to other technologies is how easily specificity of the system (i.e. which specific DNA base it is targeted to) can be changed; simply by changing the provided guide RNA in the CRISPR system, the Cas9 enzyme’s target site can be easily switched. This high level of site specificity combined with the efficacy of CRISPR-Cas9 gene editing gives CRISPR technology a clear advantage compared to previous gene editing technologies.

However, being a novel technology, CRISPR is not without current limitation. Currently, while cleavage can occur with high specificity, there is no known biological agent capable of carrying out specific DNA single nucleotide substitutions which would be desirable to treat human diseases driven by single DNA base changes. Professor Doudna discussed exciting on-going work to investigate adaptation of mechanisms known to exist to edit RNA in bacteria.

Despite limitations, some very promising clinical translation has already taken place. For example, the New England Journal of Medicine [1] reported the findings from two patients with ß-thalassemia and sickle cell anaemia who both have been successfully treated through a CRISPR-Cas9 edited bone marrow transplant. However, further clinical use is hampered by significant limitations on cell-specific targeting. Currently, all CRISPR-Cas9 editing for human use must take place outside of the body, which can be invasive and result in significant side-effects when the cells are returned to the patient. Professor Doudna discussed some of the innovative approaches being taken in pre-clinical research to potentially target specific tissue systems within the body, including the extra challenge of targeting the central nervous system for potential treatment of neurodegenerative disease.

There is also the issue of cost of treatment. CRISPR-Cas9 therapy is not cheap, and treatment in the NEJM published trials costs around a million dollars a patient. There is naturally then, a financial as well as a scientific barrier to more widespread clinical implementation, and Professor Doudna discussed how part of her current work at the Innovative Genomics Institute (ICG) at the University of California, Berkeley and the University of California, San Francisco, is to increase both accessibility and affordability of CRISPR-Cas9 therapy.

It is fitting in the ongoing pandemic that Professor Doudna also discussed how the high sequence specificity of CRISPR is being developed for use in COVID-19 diagnostic testing, allowing for a much more rapid testing than PCR alternatives. The fluorescence emitted by a ‘positive’ test could potentially even be detected using a smartphone camera, according to research published in Cell using a CRISPR-Cas13a system (one of many alternative Cas enzymes being studied) [2]. As the pandemic continues, this has huge potential for the future of commonplace and convenient SARS-CoV2 testing.

Professor Doudna rounded off the talk with a Q&A session, with audience questions including those on risk of immunogenicity of human harnessing of a bacterial system, Professor Doudna’s own opinions on the biggest barriers to therapeutic implementation, and discussion of some of the ethical concerns of human gene editing, to name a few.

We would like to extend a huge thank you to Professor Doudna for a fantastic and engaging talk and discussion. We hope everyone who was able to attend the webinar at this heavily subscribed event is excited (if you weren’t already!) about the potential CRISPR technology holds for the future. The talk is available on the CPM YouTube channel and is a fascinating watch which we highly recommend checking out!

Written by Holly Eggington, Secretary of the Oxford University Personalised Medicine Society (OUPM) and DPhil student at St Anne’s College

1.        Frangoul, H. et al. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. N. Engl. J. Med. (2021). doi:10.1056/nejmoa2031054

2.        Fozouni, P. et al. Amplification-free detection of SARS-CoV-2 with CRISPR-Cas13a and mobile phone microscopy. Cell (2021). doi:10.1016/j.cell.2020.12.001