Genomics

Genomics is the study of the complete human genome (DNA), its structure and how it functions.

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Understanding how our DNA relates to our health can result in the better diagnosis of disease and targeted therapies. Genomics also helps to find the cause of rare genetic conditions, why cancers develop and what is the best way to treat them.

Healthcare science staff in this field examine samples of patients’ DNA to identify genetic abnormalities that may be responsible for inherited diseases or conditions, such as cystic fibrosis. They not only identify abnormal genes but can also predict the likelihood of them being passed onto the next generation. They use chemical examination of cellular DNA to define any genetic abnormalities. They rarely have direct patient contact themselves, but must be aware of the impact of their research and examinations on patients lives.

Their work is split into three main categories:

  • prenatal diagnosis – examining cells for possible abnormalities in the foetus, usually in families where single gene disorders have been identified by DNA analysis
  • carrier testing and risk assessment – for identifying pre-symptomatic individuals at risk from single gene disorders
  • confirmation of diagnosis

Last updated on 20th August 2021