Testing: Put Your Genes Under the Microscope

What do you think of when someone says ‘Mutation’? The X-men? A zombie apocalypse? In reality, a mutation is simply a naturally occurring, random change in a gene. These mutations often have no effect, but occasionally, they can be harmful; for example, they could increase a person’s risk of developing cancer, a genetic disorder, and other rare diseases. However, scientists can detect these gene changes through genetic testing.

There are several types of genetic testing, and they can be used to test individuals at different life stages: pre-natal testing detects harmful mutations in a foetus before birth; childhood testing is usually used to confirm a medical diagnosis or predict whether a disorder may develop and therefore requires observation. Any mutations detected during pre-natal and childhood testing are usually due to an inherited genetic mutation; conversely, adult genetic testing is used to predict late-onset genetic disorders, usually caused by mutations that occur in that person’s lifetime. Another type of genetic testing is carrier testing, used to see whether a person is likely to pass a disease onto their children, even though they themselves may be unaffected. This knowledge enables would-be parents to make informed choices about having children and to prepare to give their child the highest quality of life, if they do decide to have children.  

There is no single genetic test that can detect all genetic conditions, but there are several types of genetic tests which have different methods. Some genetic conditions can be caused by a change in a single gene, such as cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anaemia, and can be detected with single gene testing. Other genetic conditions can be caused by mutations in several genes (polygenic), all contributing to the development of a disorder, these can be detected using panel testing. Examples of polygenic conditions are schizophrenia, ischaemic heart disease and spina bifida. Large-scale genetic testing looks at all a person’s DNA, not just at their genes and are often offered to those with complex medical histories. This type of testing can also be used to research genetic causes of conditions.

Ultimately, genetic testing may be offered to individuals who think they are at risk of either developing a genetic disorder or passing on a genetic disorder to their children. Genetic Counsellors are specialists in place to help those involved understand the implications of a genetic test, and what it might mean for that person and their family. They help individuals understand the medical facts, explain to individuals what options are available to them, ultimately supporting and giving them what they need to choose the course of action with which they feel most comfortable.

Overall, genetic testing is mainly used in a medical context. These tests can detect changes in a person’s DNA which may be harmful. Pre-natal, childhood, adult and carrier testing are all used to determine if someone is at risk of developing a disorder or whether they are likely to pass on a genetic disorder to their children. This is important, as it allows doctors to predict future development of disorders, which can enable them to monitor conditions, prescribe preventative medicine and arrange early treatment.

References

https://www.cdc.gov/genomics/gtesting/genetic_testing.htm

https://www.nhs.uk/conditions/genetic-and-genomic-testing/

https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet

https://www.nhs.uk/conditions/genetic-and-genomic-testing/

https://www.ncbi.nlm.nih.gov/books/NBK132154/

https://www.wordhippo.com/what-is/another-word-for/prescribe.html

Disclaimer

The information in this blog is for information and entertainment purposes only. I am not a medical professional, so I have never and will never give medical advice in this blog. You should always speak to a healthcare professional about your unique health needs. My opinions are entirely my own and do not reflect the organisations or people I work for. I only discuss published literature in this blog which are referenced with links.

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