Heart disease is a killer. A big one. According to the Heart Foundation, cardiovascular disease accounts for 17.1% of all deaths in Australia, or nearly 1 in 5. That’s a scary enough figure, but research suggests South Asians may be at an even higher risk of developing heart diseases. What exactly does the science say, and what can we do about it?

Thanks to researchers like Dr Sonia Shah, we may be closer than ever to finding some answers. Dr Shah is a scientist at the Institute for Molecular Bioscience at the University of Queensland who looks at genomic data in order to better understand and manage cardiovascular disease.

We were lucky enough to have Sonia deliver a guest lecture on her work at our most recent SAARI monthly gathering. Below is an edited version of a conversation we had earlier in the week.

What first drew you to genomics and health research?

Back in university in the UK, I did a degree in biochemistry, mostly because I was interested in the human body and how it worked. When I was finishing up my degree, I was working in a cancer research lab and I realised that actually working in a laboratory itself wasn't quite what I wanted to do. I was trying to figure out what to do next.

Around that time, the Human Genome Project was coming to an end. This was a 13 year long project which aimed to sequence the entire DNA of a single individual. It finished around 2003, and there was a lot of excitement about the potential for genetic information and how we could transform research and health. I ended up doing a master's degree in bioinformatics, which basically taught us how to read this data, how to analyse it, and extract useful information from the data.

After that, I started working as a research assistant at University College London with a group that was working on heart disease genetics, essentially trying to understand what the genetic risk factors for heart disease are, and how we could use that information to improve health.

That's really when I fell in love with research and genetics, and particularly heart disease as well. I have a lot of heart disease within my family as a lot of South Asian families do.

How does genomic research help us understand disease?

What we're interested in understanding is what the differences in our DNA that make some people more susceptible to disease are. Basically, we’re all 99.9% similar, so we're interested in that 0.1%.

Diseases, especially common diseases like heart disease or diabetes, are a combination of genetics and lifestyle factors. When we do genetic studies, what we do is try to identify the gene regions which are more common in people who have heart disease compared to people who don't have heart disease.

You take individuals with disease and individuals without disease, and you compare each position in their DNA to see if there are differences between these two groups. And once we know the location of these regions, we can identify the genes that are nearby and understand what the biology is and how it actually leads to disease. That's what we call a genome-wide association study, or GWAS.

Once we can identify the genes that are important, we can try and develop drugs to target those particular proteins. For example, we know genes that are involved in how we regulate cholesterol levels have been associated with heart disease, and we know that drugs that lower your cholesterol level will also lower your risk of heart disease. So what is genomic research doing? It's identifying the biology that's driving the disease.

What does genomic research tell us about the risks of cardiovascular disease within the South Asian community?

Heart disease is still one of the biggest killers around the world. And we have made lots of progress over the last decade – genetic research has really helped us understand what the risk factors are, and then use this information to try and identify those who are at highest risk. So we can intervene early on, and try and prevent disease from happening in the first place.

But the problem is that we use risk calculators to identify these high risk individuals, and most of these calculators have been developed based on research that has been done on people of European ancestry. Take the Framingham Heart Study, one of the seminal studies in heart disease research. Basically, they studied the population in a town called Framingham, Massachusetts, in the US. And this study helped us understand what risk factors are.

But when they developed risk calculators, all that information was based on our understanding of that single North American population. And we now know, when we translate that to other populations, these calculators don't work as well. In fact, in the South Asian population, they tend to underestimate the risk. So people who may be at higher risk are not being identified as high risk, especially if they’re of South Asian ancestry. So they're not getting that intervention in time to actually prevent disease.

A lack of diversity within data seems to be a big problem. Does this just affect heart disease research?

It's no different for all genetic studies. Genetic studies have really exploded since the Human Genome Project was completed. But again, if we actually look at what proportion of genetic studies are done on European ancestry, it’s a majority. So we now have genetic predictors for various diseases, and we can use genetic information to predict who is more likely to develop disease, but these don't work as well in non-European populations. So if we want to improve these predictors, we have to be developing them and testing them within these different populations.

What are the problems contributing to this lack of diversity?

Research has shown that individuals from minority ethnic groups tend to access health services less often. And that could be due to a whole bunch of things. Cultural barriers, language barriers. And so I think to overcome those, it’s about educating different communities and doing it in a culturally sensitive manner. It requires a lot of community engagement: going out into the communities, educating people on heart disease, educating people on genomics.

Genomics is going to be something that's going to be integrated into the healthcare system; that's where the future is going. And so we really need to be ready. If we don't want to exacerbate existing health inequities, we have to be doing something about it right now.

What might a culturally sensitive framework for doing research look like?

One aspect would be dealing with language barriers. Taking all the information that we have, which is in English, and translating that into other languages that are accessible to other communities. But even things like collecting blood samples for research, certain communities may not be as willing to do that as others. And so understanding these sorts of barriers, and how we can overcome them and facilitate recruitment for research studies, that’s going to be key.

There are some communities whose own history with healthcare services has been pretty traumatic. How can you combat a lack of trust in health research?

When you talk about genetics in DNA, even within the Australian population in general, people are very suspicious about genetic information and how it's used. For example, I know some investigators who work very closely with the Pacific Islander community, who, like the South Asian community, also have very high rates of type 2 diabetes. And we knew from experience, they were not very willing to give us blood samples through a finger prick. Understanding was key to overcoming that. We modified our protocol based on what was acceptable to different communities. In that instance, we used saliva samples instead. We’ve got to be aware of cultural differences.

Often men and women respond differently to these sorts of studies. We need to understand what the barriers are in certain communities, even within certain communities. The South Asian community itself is so diverse. We, as researchers, really need to be catering for these different populations.

Interested in participating in a genomics research study that aims to better understand heart disease risk in South Asians? Fill out this survey.

Maya Pilbrow is an Editor at SAARI Collective and the Media Manager for the quarterly literary journal The Suburban Review. You can connect with Maya on LinkedIn.