Genetic testing results

What is genetic testing?

Genetic testing is a series of tests that may detect changes in chromosomes, genes or proteins. Usually, they are performed by medical professionals, including doctors, nurse practitioners and clinical geneticists. However, there are also direct-to-consumer genetic tests which are marketed directly to consumers at home, via the internet, television, magazines or in shops. They generally work by customers sending off a small sample of their DNA, with the results sent to them electronically. These tests may offer information about their ancestry or make predictions about their health.

 

What are the downsides to direct-to-consumer genetic tests?

Unfortunately, there is little regulation for such companies, and consumers are not given all the information that relates to their genetic test results. Therefore, if you've used a direct-to-consumer genetic testing company and the results are not clear or they are suggestive about your health, it's best to speak with a medical professional or clinical geneticist to get as clear a picture as possible and a professional interpretation of the results.

 

What can they detect? 

Genetic testing can detect a range of diseases, including single gene disorders like cystic fibrosis and Huntington's disease, chromosomal disorders like Down syndrome, hereditary cancer syndromes like BRCA mutations, cardiovascular disorders such as long QT syndrome, neurological disorders like ALS, metabolic disorders like PKU, and more. It also identifies susceptibility to conditions like Alzheimer's and provides information for proactive health measures. The field is dynamic, with ongoing developments in testing capabilities.