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The Festival of Genomics and Biodata: An Interview with Sowmiya Moorthie, PHG Foundation

At the Festival of Genomics and Biodata, we are lucky enough to be joined by some of the biggest names in the business. In January, we sat down with a few of our esteemed speakers to chat about their backgrounds, roles and the work of their organisations. In this interview, we speak with Sowmiya Moorthie, Senior Policy Analyst at the PHG Foundation, about the implementation of polygenic scores in the clinic, health policy and more.

Please note the transcript has been edited for brevity and clarity.

Interview originally conducted by Miyako Rogers.

FLG: Thank you so much for coming to speak at the Festival of Genomics and Biodata. To start, could you introduce yourself and tell us about what you do and your career so far?

My name is Sowmiya Moorthie. I’m a Senior Policy Analyst at the PHG Foundation, a health policy think tank based in Cambridge, UK. I am also a research associate at Cambridge Public Health, where I work broadly on the better use of data for improving health services.

My background is in science. I have a PhD in biological sciences, but then I did a Master’s in epidemiology. The focus of my work over the last few years at the PHG Foundation has involved the evaluation of polygenic scores, but I have worked across a wide range of areas such as next-generation sequencing and newborn screening, amongst others.

FLG: Could you tell us more about your work on polygenic risk scores and the potential for their clinical use?

A lot of our work at the PHG Foundation is really focused on how to use genetic technologies effectively within healthcare. And so there has been a lot of excitement about the use of common variants within clinical pathways to improve disease risk prediction for common diseases such as cardiovascular disease, diabetes and cancer. We’ve been looking at this from the very beginning – ‘polygenic scores’ is a relatively new term over the past few years, but this kind of genomic risk profiling has been discussed for many years. We have been watching the space for quite a while.

More recently, over the past three to four years, we have looked at some more specific questions. This includes assessing readiness for use in cardiovascular disease prevention pathways and cancer. I have also led work examining how we can evaluate technologies that provide a polygenic score, so we can understand benefits, harms and issues in implementation. This is about getting a better understanding of clinical utility and evaluation. So, thinking about how you conceptualize PGS applications, how you evaluate them. What are the pragmatic things that need to happen for implementation? And where are the places it needs to be implemented?

FLG: What are some of the key considerations you’ve identified in your work on polygenic scores and their incorporation into practice?

The main thing we’ve been focusing on, especially over the last couple of years, is thinking about how to conceptualise polygenic scores as a biomarker and evaluate their specific applications. And also how we can get the right evidence base to support implementation, because there are a lot of discussions about whether current studies provide sufficient evidence in support of specific applications.

However, it can be tricky to understand what the proposed applications are, and therefore what the evidence needs are. There are also differing views on clinical utility, and what constitutes clinical utility, for PGS applications. There is a need for better consensus, so that we can help healthcare decision-makers go forward and implement this.

FLG: How do you see the integration of genomics and the work that you’ve done? How do you see it impacting the future of health care and public health?

Genomics has significantly contributed to healthcare and public health over the years, and there are many examples. And it will probably continue in the future. As always, it’s a case of identifying the benefits.

FLG: Could you also tell us a little about your role as Senior Policy Analyst at the PHG Foundation and also explain the Foundation’s mission?

The Foundation’s mission is to make science work for health, by helping policy makers understand how new technologies can impact healthcare. This includes expert assessment of scientific basis, clinical relevance and legal, regulatory and social impacts of particular technologies. We bring together and work with a wide range of stakeholders to explore issues and build consensus. We also conduct quite a lot of horizon-scanning to see what might be up and coming.

I actually work there part-time now, so my role is a bit reduced. I do a variety of different things, like looking at new scientific innovations and asking ‘is the science right? Where’s it going?’ And also helping to bring it to a level than can be easily explained to a wider audience, to make it more understandable. And I also try and understand where some of the concerns might be from a research perspective versus a clinical perspective, or a healthcare policymaker perspective. I also work together with colleagues in the humanities team, who have expertise in law and ethics and wider networks to really understand and explore any issues that may arise. It is a very varied role, looking at different areas of genomics, but essentially bringing that critical appraisal and trying to understand different perspectives across the health ecosystem.

FLG: Can you discuss some of the challenges you’ve encountered trying to bridge the gap between scientific research and the latest advances and policy implementation, actually making it a reality for patients in health care system?

I think one of the main difficulties, especially in more recent times, is the fact that you’re trying to bridge different scientific disciplines. So, getting a shared understanding of those different disciplines, between the research community, but then taking that forward as well to a different, non-research audience. And vice-versa, researchers may not be completely aware of the way in which the health system functions, or of particular issues that may impact implementation. So, it’s bridging that gap and bringing all these different people who have different understandings of a particular technology all to the same level so you can get shared success.

FLG: Can you discuss a specific project or initiative that the PHG Foundation has undertaken that you believe has had a significant impact on improving health outcomes?

Since I’ve been there, there are two things I would say have had a big impact.

One is our work on next generation sequencing, when these technologies were becoming more widespread. This was quite a few years ago. It was a large project, but really helped improve people’s understanding about sequencing technologies and what a bioinformatician does. We have a policy brief about what a bioinformatician is and what they do, which is almost, maybe, something basic now. We do a lot of work making that basic understanding come across. And the other thing that’s had an impact is our contribution to work that informed the expansion of the UK newborn screening programme.

FLG: In your opinion, what are some of the most exciting advancements in genomics? And how do you think these advances, the latest cutting-edge technologies, are going to make a big impact?

That’s a hard question. Because I don’t look at the cutting-edge stuff – I tend to look at stuff that is going to have a clinical impact. I guess that’s a slight difference. There might be stuff that’s cutting-edge, but slightly different to what’s actually going to happen.

FLG: And how do you see big data and new data analysis methods impacting personalised healthcare, and how do you see big data informing how people make decisions around policy?

I think we’ve always used data to make decisions about policy. If you work in public health, it’s a fairly common practice to use data, and the best available data. Where we’re getting to now is that you have more of it. And it’s really trying to understand what the value in having all that data is, and how best to use it for patient or public health purposes. And I think the technology and everything is there, but maybe we should work a bit more towards asking the right questions of the data.

FLG: Brilliant. Finally, why did you decide to come to the Festival and why do you think people working in the field should attend?

I was invited as a speaker, and I also did this last year when it was an online event. And it’s nice, it’s very broad, and it covers quite a lot of things. Genomics is such a big field and so is biodata, so it is quite a nice opportunity to choose to listen to the things that are going on and to see what everyone’s into. It’s also a nice opportunity after two years of having lots of hybrid or virtual events to meet people in real life, who you’ve met only met virtually.