The human genome

The genome of an organism is the entire genetic material of that organism. The whole human genome has been studied, and this is of great importance to medicine.

In order to exploit its secrets, it is vital that the human genome is fully understood.

It enables us to:

  • search for genes linked to different types of disease
  • understand inherited disorders and their treatment
  • trace human migration patterns from the past

Scientists are searching for disease-associated genes. For example the BRCA1 and BRCA2 genes that can contribute to breast cancer. Mutations in these genes account for approximately 10% of all inherited breast cancer cases detected.

Scientists detected BRCA1 and BRCA2 genes by studying families where breast cancer was known to have been inherited. They were able to create a pedigree analysis, which is similar to a family tree diagram that showed the close relationship of those affected and unaffected within the family.

A visual to show a pedigree analysis chart that can help people find out about inherited disorders and diseases.

The pedigree analysis illustrates the inheritance pattern of the disease to be determined. This enabled scientists to test DNA of the affected and unaffected individuals to identify differences. It is now possible to detect the presence of the genes by having a simple blood test.

Personalised medicine is when doctors use information about our genomes to ensure we get the right treatment:

  • matching medicines which work in a particular way to the people they can help best
  • predicting who is most likely to develop certain disease such as cardiovascular disease so that treatment can be started early

Genetic screening is when genome sequencing is carried out on large numbers of people in order to use the information to predict the likelihood of gene-related issues.

How information is used

Genetic testing is an example of what is technically possible - what can be done. But the decisions we take on how to use this information are an example of values, and cannot be 'answered' by science.