Why do we want to know about genomes?

Before we start looking in more detail at the genome and what it means for our health, Dr Michelle Bishop, one of our course educators, introduces us to a range of reasons why different people and professions want to know about genomes.

Michelle discusses:

• why scientists have been driven to find out more about genomes;
• why healthcare professionals might make increasing use of information about a person’s genome in healthcare; and
• why individuals are choosing to learn more about their genetic make-up.

Michelle explains that:

• there are around 3.2 billion chemical letters in the human genome and around 99.9% of our genome is identical to other people’s;
• in healthcare we are focused on the relatively small number (approximately 3 million) of changes or variants present in an individual genome. We will explore what we mean by DNA changes/variants later this week;
• not all variation is bad. Variation in the genome is responsible for the natural variation we see between us – for example eye colour and hair colour – but sometimes this variation can be ‘pathogentic’ (disease-causing). This is the focus of genomic analysis in healthcare.

Michelle introduces a few words and terms in this film, such as ‘bases’ and ‘reference genome’, which you may not be familiar with; please don’t worry, these will be clarified as you move through the course and begin to learn more about how genomics – and whole genome sequencing specifically – is used to help patients.

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