Genetics is the study of the changes underlying genetic diseases, for example, in cystic fibrosis.

Genomic medicine uses genomic information for diagnosis of disease and to identify the best treatment. Examples include:

  • Women with BRCA1 gene mutations have a 70% risk of breast cancer but surgery can reduce the risk
  • The lung disease cystic fibrosis is caused by CFTR mutations inherited from both parents. Average life expectancy is just 40 years, but a new drug for patients with a specific type of CFTR mutation enables them to live longer and healthier lives
  • Genomic testing for babies with diabetes distinguishes those needing lifelong insulin from the ones whose diabetes can be controlled by tablets
  • Testing DNA from lung tumours identifies those patients who can benefit from a drug that counteracts overactive EGFR protein.

What type of work?

Clinical scientists use the latest technology and bioinformatics tools to analyse DNA variants that cause genetic disorders. Testing of relatives predicts their risk of the disease and this can even be done for unborn babies by taking a blood sample from their mother.

Clinical scientists often collaborate with researchers to make new scientific discoveries. For example, the UK 100,000 Genomes Project is sequencing the genomes of NHS patients to better understand rare diseases and cancer.

What skills are needed?

Clinical scientists require an expert scientific understanding of genomics plus leadership, organisational and excellent communication skills. High quality, accurate results are essential as a genetic diagnosis is for life. And finally, they must be empathetic towards patients and their families to ensure patient-focussed services.

Did you know?

That although human DNA sequences are 99.9% identical, we all have 3-4 million variants in our genome. These variants explain why everyone looks different, but sometimes they affect the function of important proteins and cause genetic disorders.