Personal Genomics Zone

This talk was given at the University of Westminster on 25/07/2024 as part of the London Bioinformatics Meetup: https://www.meetup.com/bioinformatics-london/events/299514948/

The underrepresentation of non-European populations in genomics datasets limits our understanding of genetic associations to diseases and the translation of promising cures to under-represented populations. For example, gender bias in pharmacogenomics results in higher rates of adverse drug reactions in women, who are underrepresented in clinical trials and genetic studies, while diversity biases results in a broad range of neglected diseases in less represented populations.

Ensuring equitable access to the benefits of genomic research is not only a matter of justice but also a fundamental human right. Efforts to address biases and promote diversity in genomics are essential for upholding these ethical principles and advancing global health outcomes.

Addressing the bias in reference datasets for healthcare is essential for ensuring equitable healthcare outcomes across diverse populations. My research group has been working on the problem of trying to understand what current biases exist across different data reference resources that are routinely used to make health inferences. This research is in the process of being published and I have been quite vocal wherever I could in terms of what this means for undeserving populations. It is about time that action is taken in order to address the lack of underrepresentation for many global populations. That said, the solutions are not easy to attain. There needs to be a hige effort for these disparities to be reduced. A lot of the time I wonder what would be needed for these gaps to be closed. Below I provide some very high level solutions, but most importantly, there needs to be greater awareness of what this means for all humanity. Here are some suggestions for actions and solutions to consider in order to address these biases:

In conclusion, incorporating these solutions and actions into global policy could provide a a comprehensive roadmap for addressing the ethical challenges posed by biased reference datasets in healthcare. Highlighting specific case studies or “use cases” where disparities in data representation have directly impacted communities can also make a compelling argument for the need for urgent and concerted action. Such development of “use cases” affecting underrepresented populations is something in which we are in the process of publishing. Our hope is that literature like that will shed light on how unequal data representation are affecting the lives of some global communities who are unable of benefit from current precision medicine advancements.

If you cannot wait for the paper, I suggest you watch or listed the presentation below, where I give a current overview of my research around how reference datasets for healthcare are all incredibly biased. Here I chart datasets such as genome wide association diseases, pharmacogenomics, clinical trials and direct to consumer genetic testing and measure their degree of data missingness of diverse populations.

The London Bioinformatics Meetup on Feb 29th 2024 was a profoundly impactful event, weaving together critical issues across bioinformatics, health data, democracy, AI, and the personal experiences of the speakers. Here’s a brief overview of the key themes and speakers:

Prof. Nitasha Kaul’s Presentation: Addressed the severe consequences of cyberbullying that she faced after being denied entry into her own country, India. Prof. Kaul’s experience highlights the risks involved in expressing personal opinions on sensitive topics like democracy and the challenges posed by AI. Her courage in speaking out after such a distressing experience adds a significant personal and emotional dimension to the discussions on the intersection of technology, politics, and individual rights.

Prof. Louise Thomas’s Presentation: Focused on the role of fat in health, utilising imaging data from the UK Biobank. Prof. Thomas pointed out the limitations of this dataset, notably its skew towards ‘white British’ participants, while also acknowledging it as the most comprehensive compendium of imaging data currently available. This presentation underscores the importance of inclusivity and diversity in scientific research datasets to ensure findings are representative and applicable to broader populations.

Introduction by Prof. Miriam Dwek: As the Director of Research at the College of Liberal Arts and Sciences at the University of Westminster, Prof. Dwek’s introduction set the stage for an event that promised to engage deeply with the complexities of our modern world, through the lens of bioinformatics and beyond.

This meetup offered a multifaceted exploration of how bioinformatics intersects with broader societal issues, such as cyberbullying, democracy, health, and data inclusivity. The speakers’ insights would indeed inspire attendees to think critically about our “New Brave World,” encouraging a reflective and forward-thinking approach to the challenges and opportunities that lie ahead in the realm of genomics, health, and technology.

Last Wednesday 21st of February I gave for the University of Canterbury Christ Church I present ‘the Missing Ancestry Problem’. You can watch the video in YouTube or listen to it as a podcast below.

In the ever-evolving field of genomics, the data we collect and study has a profound impact on the future of healthcare. But there’s an issue at the heart of this scientific advancement: not everyone is equally represented in genomic datasets. Why does this matter? Because without a comprehensive genetic blueprint of all human populations, we risk creating a healthcare system that only works for a few.

Imagine walking into a store knowing it only caters to 10% of the population — you’d feel left out, wouldn’t you? That’s what happens when genomic research overlooks vast swathes of the global population. Patients from underrepresented groups are less likely to benefit from the advancements in healthcare that genomics promises. This is the inequity we’re currently facing, and it’s one we must address to avoid perpetuating existing biases.

Our team has taken a deep dive into the representation of global data in genetic studies. We’ve looked at genome-wide association studies (GWAS), pharmacogenomics (how genes affect a person’s response to drugs), clinical trials, and even the tests that consumers take at home to learn about their ancestry or health risks. The findings are a wake-up call: the genetic data we’re currently collecting does not reflect global genetic diversity.

To put it simply, some populations are not being studied considering their numbers in the global census. This gap means we’re missing out on the full picture of human genetic variation. And as we move towards an era where genomics informs everyday medical decisions, we can’t afford to have blind spots if we are to fulfil the promise of precision medicine.

It’s time for a strategic shift. We need to deliberately include diverse populations in genomic research. It’s not just about adding numbers; it’s about enriching our datasets with the variety of genetic data that humanity has to tell. This isn’t a problem for future generations to solve — it’s a challenge for us, here and now.

Ensuring that everyone is represented isn’t just good science; it’s a step towards a more equitable healthcare system where everyone benefits from the genomic revolution.

Join me in an enlightening presentation on “Genetic Diseases in the Era of Precision Medicine.” This comprehensive lecture, recorded on February 2, 2024, delves into the transformative role of genomics in modern healthcare.

Here I offer a comprehensive overview of how genomics and precision medicine are revolutionising our approach to understanding, diagnosing, and treating genetic diseases. I delve into the significance of the Human Genome Project and its implications for personalised medicine, highlighting the importance of genetic variations and their role in health and disease.

The lecture explores the advancements in sequencing technologies, including the differences and applications of whole genome versus exome sequencing. I also address the challenges and future prospects of genomic medicine, emphasising the potential for tailored treatments and preventive strategies in improving patient care.

This insightful presentation bridges the gap between raw genomic data and actionable clinical insights, showcasing the pivotal role of bioinformatics in the medical field.

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Welcome to the Personal Genomics Zone Podcast, from Cambridge, UK. In this podcast, we talk to scientist Albert Vilella, who has been closely following what has been happening in the twittersphere last week and in particular the renown #AGBT19 event at Marco Island, Florida.

This is a podcast series on Precision Medicine whose objectives are as follows:

1) To help you learn the critical developments shaping the future of diagnostics, drug development and personalised treatments.

2) To allow you to discover in one single podcast series the challenges affecting clinical and industry key opinion leaders while delving into the ethical, social and legal implications of personal genomes.

3) To advance your knowledge of Artificial Intelligence, Big Data and High throughput technologies applied to Precision Medicine.

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