Medical uses of genetic testing

Transcript (97.6 KB)

Have you ever wondered what genetic testing can tell us about our health? In this video, we look at some types of genetic testing used specifically for medical purposes. Diagnostic genetic tests can be used to confirm whether someone has a particular genetic condition, which might be suspected if they have specific symptoms or features of a genetic disorder. In contrast, predictive genetic testing can tell us a person’s risk of developing a certain condition in future, even if they don’t have any symptoms yet. For example, having particular changes in the BRCA genes increases a person’s risk of certain cancers. Here, we look at the choices that Angelina Jolie made in response to the diagnosis that she carried such a gene change.

Our genetics can also influence how we respond to a particular drug treatment. This is called pharmacogenomic testing, and can help to make sure a person receives the most effective treatment with minimal side effects.

Carrier testing can be useful to detect the likelihood of prospective parents passing a genetic condition on to their offspring. We also look at three other genetic tests: preimplantation, prenatal, and newborn testing, all of which can give an indication of a baby’s health in the early stages of life. This information can be useful for families at high risk of certain genetic diseases, helping them make informed decisions about their child’s future healthcare.

As well as providing information for individuals, the genetic data of many people can also be analysed simultaneously on a large scale. This allows scientists to learn more about how our genetics affects our health, and paves the way for groundbreaking discoveries in healthcare which change the way we diagnose and treat diseases.

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