What is genomic medicine?

Genomic medicine involves using a patient or individual's genes (DNA) in order to influence their care. Genomic medicine offers a tailored perspective, investigating the individual through their own complex biological details, allowing for a more effective diagnosis and treatment plan specifically for the individual.

Our genes can affect how we respond to certain diseases and conditions, such as heart disease, and cancer. Genomic medicine is increasingly helping us to understand the links between disease and biology, which in turn affect diagnosis, treatments, and the individual healthcare path of the patient.

Why is genomic medicine used?

The idea behind genomic medicine is that by using the genomic information of patients, we can better understand their condition and hence better tailor their treatment. The more accurate a diagnosis we can make, the more likely we are able to provide the right treatment. Genomic medicine has proved helpful in particular in the fields of oncology and rare and infectious diseases. Hence, genomic medicine has also been described as ‘precision medicine’.

It is also thought that genomic medicine will be able to indicate where simple lifestyle changes will be more effective in improving health than medical treatments. Additionally, genomic medicine could indicate your likelihood of developing a certain disease and suggesting the best preventive measures to adopt.

What does genomic medicine involve?

We are able to use precision medicine because of the completion of the Human Genome Project (HGP) in 2001. The HGP was an international research program that fully mapped all of the genes of human beings. All of our genes are collectively termed as our ‘genome’.

Hence, genomic medicine makes use of the following to make diagnoses and treatment plans:

• Genome sequencing and analysis
• Understanding the underlying mechanisms of diseases
• Understanding how someone’s environment interacts with their biology
• Using evidence-based interventions

What does genomic medicine look like in practice?

Here are some examples of how genomic medicine has been used in practice:

• Certain cases of colorectal cancer have a specific gene mutation in gene PIK3CA that can benefit from taking aspirin after diagnosis, having shown increased survival in patients with this gene mutation diagnosed with colorectal cancer.
• Research undertaken at Stanford University, California has developed a test that can detect when a transplanted heart will be rejected by a patient. This test only requires a blood sample, with previous tests required invasive tissue biopsies. This blood test tests for the levels of cell-free DNA circulating from the donor organ in the recipient’s bloodstream. Elevated levels correlate with the severity of the rejection.
• Whilst cystic fibrosis is one of the most common genetic diseases (due to a mutation in the CTFR gene), genomic medicine has found that those with a mutation known as G551D can be very effectively treated with a new drug called ivacaftor.