What is genomics?

What do we mean by genomics and why is it important?

When you hear the term genomics, what comes to mind? This is a question that I always like to ask students when I start a session. It is a really great way to get an idea of what they think and know about the topic.

Genomics is a term that has only recently entered the public domain, when a couple of decades ago it was something largely discussed in the scientific community. So what is genomics and why should we be talking about it more with our students?

Genomics in its broadest sense is the study of the structure and function of genomes. A genome is an organism’s complete set of genetic instructions. Each genome contains all of the DNA information needed to build that organism and allow it to grow and develop.

The technology that enables us to sequence and ‘read’ a genome has developed rapidly over the last few years and it is now possible to generate a human genome sequence in a matter of hours. Looking back 25 years, the first human genome took 13 years and billions of dollars to sequence. That is pretty fast advancement in technology. Not only has the speed of sequencing increased but the portability of the technology has advanced and you can now sequence DNA using a device no bigger than a stapler. This has opened the possibility of sequencing in really remote areas from tropical rainforests, the Antarctic and even the International Space Station!

So what does this rapid advance in technology actually mean for us? Well, as scientists it means you can get a lot of data, a lot cheaper and quicker than before. You can also have much bigger data sets, which means you can answer questions that were not possible a few years ago.

But what about everyone else? Genomics and its applications are weaving their ways into our everyday lives. From a health care perspective, genomics is enabling the development of new drugs and vaccines, and precision medicines particularly in the field of cancer. It has also enabled more accurate genetic tests, and whole genome sequencing is now a clinical option for some patients with rare diseases through the UK’s National Health Service (NHS). Genomics research also helps us to identify and track the emergence of drug resistance in pathogenic organisms, and as has been shown through the COVID-19 pandemic helps us to track the transmission of pathogens such as viruses and understand how they are evolving, giving us insight into whether they could evade vaccines.

Genomic consumerism is also on the increase with commercial organisations offering online kits that with the donation of a tube of spit will enable you to trace your family ancestry, and get an insight into your personal health. Have you taken an online genetic test? Or if you haven’t would you?

Later in this course we will look at some of these applications and how to discuss them in the classroom. In Week 3 of the course you will have an opportunity to select a resource and design an activity or lesson plan using it.

If you would like some basic introductory reading for students on genomics concepts we recommend fact pages from Yourgenome.org. The Yourgenome pages could also be a useful starting point if you’d like a refresher on certain genomics concepts or to learn about new advances in genomics for yourself.