Genomics in healthcare and research

The ABPI is committed to supporting the sector in bringing the latest advances in genomic medicine to patients, and to supporting genomic research to develop new drugs to treat disease.

What is genomics?

Genomics is the study of genomes – the complete set of genetic information contained within each individual. In humans, our genome is made of DNA. DNA contains coding regions, made up of units called genes, with each gene providing the information needed to make a protein – the component parts that create the body’s structures like lungs or skin and perform the processes needed for them to function. DNA also contains non-coding regions, which help to regulate how genes function.

The remaining differences result in the variation between people in anything from eye colour to blood type. This variation also includes the presence or absence of disease.

Genetic variations cause disease by providing information for making proteins which do not function properly. A person with these types of variations in their DNA is born with the associated disease, or may develop the disease during their life.

Genes can also be changed as a result of things in the environment over the course of a person’s life, leading to disease development.

What can genomics deliver for patients?

There is huge potential for genomics benefit patient care from rare disease to cancer. By studying genomics, we can learn more about how disease is caused. This can be harnessed in research to identify new targets for drugs, providing the basis for the discovery new medicines. Understanding more about how a disease develops can also help predict who is at most risk, so that preventative approaches can be put in place as early as possible. Looking at a patient’s genome can also tell us more detail about the makeup of their disease, so that the right treatment can be prescribed. Genetic variation also affects the way each person responds to a treatment – how effective it will be, or whether it might cause adverse effects. Knowing this can help select the best medicine or the correct dose, and avoid potential side effects.


Some useful resources for more information on genomics are available from the NHS Genomics Education Programme.