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.
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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