Genetic Testing

Genetic testing, sometimes called molecular testing, identifies changes in genes or chromosomes.  It can screen, casting a wide net to detect as yet unidentified genetic mutations (whole genome testing), or be used specifically to target a particular gene and a diagnose a health disorder.  Genetics refers to the study of individual genes, whilst genomics describes the study of all a person's genes (the genome).

Genetic and genomic testing are transforming healthcare and new tests are being developed all the time as research discovers more genetic alterations and learns how they link to particular health conditions. Expect to see more genetic testing in the years to come.

When are you likely to encounter genetic testing?

• If you are planning a pregnancy, a reproductive carrier screening (RCS) test can tell if you and your partner carry genetic alterations that could put a baby at risk of being born with any one of hundreds of rare sometimes severe childhood conditions.
• During pregnancy, a NIPT – non-invasive prenatal test – can check to make sure the baby you are carrying isn’t at high risk of chromosomal conditions such as Down syndrome. This test analyses small fragments of the baby’s DNA circulating in the mother’s blood. The same technique is now being developed to detect DNA that is being released from cancer cells as an early diagnosis of cancer.
• If you have cancer, a biopsy of a tumour can be tested for genetic alterations that show what type and sub type your cancer is and what treatments will work best for that particular type. This is known as personalised medicine.
• Genetic testing can show if you carry genes for specific inherited conditions such as high cholesterol or hemochromatosis.
• Genetic testing can even show how well you will respond to a particular medication and the best dosage to treat your condition effectively without being too much to cause you harm (pharmacogenomics).
• Genetic testing is used to detect viruses such as Covid. It can also detect bacteria and in some cases identify if the bacteria carry mutations that will prevent an antibiotic killing them.

You’ll find many genetic tests in the Pathology Tests Explained library.