Genomics is revolutionising modern medicine. From improving cancer treatments to predicting diseases using genetic information, here are four ways our health is benefitting from genomics.
Genomics has fundamentally changed how we understand health and disease. It has made incredible advances in medicine possible, allowing us to treat diseases at a genetic level and offering more personalised treatments.
This progress has not come without challenges. For example, many questions and concerns have emerged around the ethical, legal and societal contexts of genomics research. These must be openly discussed and researched so that, ultimately, everyone can feel the positive impacts of genomics research on their health.
As genomics research improves to meaningfully include everyone everywhere, we are likely to see more breakthroughs that will have implications for health. But what impact has genomics made on health so far?
Genomics is the study of the structure and function of genomes, which is the entire set of DNA in an organism. It looks at how genes interact with each other and the environment.
Genomics helps us understand which genes are linked to physical traits, but this is not always easy. Many parts of our DNA don't seem to do anything obvious, and characteristics can be influenced by many different genes. To better understand how our DNA works, scientists need data from a lot of people. This data can come from reading parts or the whole genome of a person.
The Human Genome Project, completed between 1990 and 2003, was a major step in mapping the human genome. Since then, technology has greatly improved, allowing us to sequence DNA much faster and more efficiently, creating vast amounts of genetic data.
Cancer treatment has traditionally been based on where the cancer is found in the body – such as breast cancer or lung cancer. Genomics changes that approach by focusing on the genetic changes that cause cancer in the first place.
Looking at the whole genome of a cancer cell allows doctors to better understand the mutations driving the cancer and choose the most effective treatment.
Understanding the genetic code of cancer cells can lead to the development of drugs that can impede the cancer cells but not normal cells. It can also inhibit the enzymes that trigger cancer cell growth and halt the molecular signalling pathways that are in overdrive in cancer cells.
Currently, patients with certain mutations in lung cancer can be treated with targeted therapies that focus on the genetic changes within the cancer.
Genomics has a huge potential to predict disease. Polygenic risk scores are developed using large-scale genomics studies. They use genetic information to estimate a person’s risk of developing common diseases like heart disease, diabetes and even some cancers.
Polygenic risk scores are already being trialled as an approach. These scores incorporate many small genetic changes, each contributing a little bit to the risk of a disease.
Someone with a high-risk score for heart disease may be advised to take steps to lower their risk, like adopting a healthier lifestyle or getting regular checkups. This type of personalised medicine could save lives by catching diseases early.
One of the most exciting advances in medicine is gene therapy, a treatment that changes a person’s DNA to cure or treat diseases caused by genetic mutations.
For example, gene therapy has shown promise in treating sickle cell disease, a serious inherited blood disorder. It’s caused by a mutation in the gene that helps make haemoglobin, the protein in red blood cells that carries oxygen. This mutation causes haemoglobin to stick together, forming sickle-shaped cells that can block blood flow and cause pain.
Around 100 million people worldwide carry the sickle cell trait, but the disease only occurs if both parents pass it on. In parts of Africa where the disease is common, up to 20% of people may be affected.
Gene therapy can fix the faulty gene in a patient’s cells, leading to huge improvements in health. In some cases, patients have even been completely cured. This same approach could also be used to treat other genetic disorders, like cystic fibrosis or Duchenne muscular dystrophy, offering hope for new treatments.
Our improved understanding of the genome and its role in health and disease makes treatments like gene therapy possible. This is one of the many potential applications of genomics beyond prevention and diagnosis of disease.
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Narrator: Around nine or so miles outside Cambridge, in the east of England, is a quaint village called Hinxton.
And here, back in the 90s, a group of researchers took part in one of modern science's greatest projects... sequencing the human genome, the 3 billion base pairs of our DNA. Specifically, at the Wellcome Sanger Institute.
Michael Dunn, Wellcome’s Director of Discovery Research: A lot of scientists would say, 'Why would you sequence the whole genome, we're only interested in the interesting bits...'
Narrator: And that, there, is Michael Dunn. Wellcome’s Director of Discovery Research.
Michael Dunn: But of course you don't know what the interesting bits are unless you know what the whole thing looks like. So it's. a bit like taking apart a car and saying, 'well this bit doesn't look that interesting'. But actually it turns out it's the ignition and you can't figure out how to kind of work a car without an ignition.
Narrator: Jump to 2003... the Human Genome Project came to an end. All data made public.
The world could see, for the first time, a set of instructions to build a human being.
Michael Dunn: Just a pure knowledge of the fundamental underpinnings of disease from a genomics standpoint gives you early diagnoses, it gives you early ways of maybe being able to prevent disease.
Narrator: The Human Genome Project revolutionised how we think about health. Though, more than anything it confirmed just how complex and unique each human is.
Our DNA might be 99.9% identical... but... that 0.1% really matters. So... what does that mean for our health?
Mediocre science, terrible science policy. Most of the genome doesn't encode proteins and is junk.
The Human Genome Project faced criticism from its earliest days.
Michael Dunn: You spent all this money. $3 billion that's gone into this project. Where are the tangible benefits to human health that we were promised? That was quite a difficult one to counter because actually they weren't, you know, a whole suite of therapies and cures that were kind of, like, coming out straight after.
But, fundamentally, what did happen was it completely changed biological research and then now, ten, twenty years later, you can hardly look at a newspaper without seeing a new therapy that would not have been developed without knowledge of the human genome.
Narrator: If you're working in the field today, the technology and processes from back in the 90s would be pretty much unrecognisable. Full genomes can now be sequenced in just a few hours, rather than years.
There are teams out there hoping to map all the different cells in our body, and sequenced the genomes of every known animal, plant and fungi on Earth.
We can even edit individual genes using tools such as CRISPR, opening up new ways of treating genetic diseases like sickle cell disease and beta thalassaemia.
But despite all the growth and discovery in the field, there's a problem.
This data should explain...
It's a diagram showing groups of people who've had their DNA sequenced in large-scale genomic studies.
Straight away you’ll notice that the most studied population is broadly labelled as ‘European’. Only around 10% of the data
is labelled as Asian, 2% African... 1% Hispanic.
Dr Segun Fatumo: If we continue to study one population, we're gonna be missing out genetic discovery.
Narrator: That's Dr Segun Fatumo. He’s Professor and Chair of Genomic Diversity at Queen Mary University of London.
Dr Segun Fatumo: Africa is the most genetically diverse population in the whole world. We are doing ourself harm if our focus is just primarily on just one population. We need to get to a point where we study a population, we capture all genetic variants that could be potential for treatments, for predictive medicine and also for prevention.
Narrator: Take polygenic risk scores, a way of predicting someone’s disease risk using their genes and other data.
A few years ago, one study found that they are more than four times more accurate for people of European ancestry than those of African ancestry, and two times more accurate than those of East Asian ancestry.
One big reason?
Well, between 2008 and 2017, the first decade of polygenic scoring research, over two thirds of studies used people of European ancestry exclusively. Only 3.8% were amongst African, Hispanic or Indigenous peoples.
If we want genomic healthcare and medicine to really help everyone and be accurate for everyone, then we must diversify genomic data.
Dr Segun Fatumo: So currently we have a medication that is called PCSK9 inhibitor. So this medication came into existence because some African ancestry individuals were included in the study. So in that study they found that those individuals, they literally have a genetic variant that is helping them to lower cholesterol. And the medication that we have to day, that is a miracle, to lower cholesterol, is not only used for African ancestry individuals but useful for everyone from all over the world.
Narrator: Studying more populations brings
us closer to breakthroughs like this.
Researchers are realising that genomic data can reveal key pieces of information about infection, metabolism, even mental health... or how climate change impacts our bodies.
It's also worth pointing out that sequencing a full human genome is nowhere near as expensive as it used to be.
Really nowhere near. Around $95 million less.
Dr Segun Fatumo: There might be some example that we have not found yet in Latin American population, in Indigenous population in Canada or in Australia. So there's need for us to gather genomic data from all backgrounds. So, the issue of data privacy and protection is very, very important. Previously, there have been an issue about exploitation where scientists from high-income country would just fly to low-income country. And they take a sample, and they extra DNA, and they fly back to their country. So that issue has been there. The issue of colonisation has been there. So now we need to get to a stage where we can build trust, where everybody is seen as making a significant contribution.
Narrator: Genomics has grown up fast. Ever since the Human Genome Project began, the field has been radically transforming technology and healthcare. However, despite
all the rapid progress, it’s not helping everyone equally.
There's a risk that health inequalities will continue to grow unless we diversify the current global research landscape to better understand as many people and populations as possible.
It's going to take time... but this next moment is crucial if we want to build trust and knowledge within genomic healthcare.
And make sure we're all a part of its future.
Genomics isn’t just changing medicine – it’s also helping to address global challenges such as food security, which can have a negative impact on our health. As the world’s population grows, we need to find ways to produce more food in a sustainable way. Genomics is helping to improve crops, making them more resistant to disease, pests and climate change.
As a staple crop for billions of people, scientists have sequenced the wheat genome. By understanding the wheat genome, researchers can identify traits like disease resistance or drought tolerance, helping farmers grow more resilient crops that are also better for our nutrition and health. This research can help ensure a stable food supply as climate change threatens global agriculture.
There are many more possibilities for genomics. But for the field to reach its full potential, it must address different barriers to progress.
Some of these challenges include:
This landscaping report outlines the state of diversity in global genomics. It examines the representativeness of human genomic datasets, and identifies opportunities for funders to make a positive impact.
As a global funder with a long history of supporting genomics research, we have a major role to play in advancing the field. We’re doing this by investing in key areas of genomics that need support through our Discovery Research programme.
The future of genomics looks bright. It must be built on the foundation of inclusivity and collaboration. With continued investment and support, we can unlock the full potential of genomics to improve health for all.
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