DNA Testing for Genetic Conditions

While uncomfortable for many, DNA testing can give individuals priceless insight into their genetic code

Blood tests are carried out for a variety of reasons. For a clearer insight into genetics and overall health, people are choosing to undergo DNA testing to diagnose a specific condition, work out the chances of developing a particular disease or determine whether they are carriers of a genetic mutation that could be inherited by offspring. Depending on the condition being tested for, these DNA samples will be examined in a laboratory. So, what are the pros and cons?   


When dealing with health, preventing illness is always better than finding a cure—DNA tests are making prevention efforts easier. Genetic testing allows the identification of potentially harmful genes, allowing for forward planning and a sense of relief from medical uncertainty. In one of the most high-profile cases of this, actress and humanitarian Angelina Jolie opted to have a mastectomy and hysterectomy after discovering that she had a mutation in cancer-suppressing genes BRCA1 and BRCA2. The mutation effectively caused a hereditary breast-ovarian cancer syndrome. It is undeniable that DNA testing can provide unparalleled knowledge on our health and how to preserve it for as long as possible, though it’s up to us to decide what to do with this information. Support groups and sessions are available to help with this.


One of the greatest limitations of this type of DNA testing is that, in some cases, it may induce a false sense of security in patients. It is important to keep in mind that just because—for example—you receive a positive result for a ‘harmful’ gene, this will not necessarily mean you will develop the disease. More crucially, a negative result for a ‘harmful’ gene does not guarantee you won’t be affected by that disorder in your lifetime. In either scenario, talking with your doctor or specialist about your results is an important step in the process of safeguarding your health.


For individuals at risk of having a child with a serious genetic condition, pre-implantation genetic diagnosis (PGD) is a viable option. This involves using IVF. The resulting embryos are tested for mutation and two unaffected embryos are then transferred into the uterus.

Genetic counselling services are available for individuals who wish to receive support, information and advice about genetic conditions. Sessions may involve learning about a health condition that runs in your family, a closer look at your medical history and understanding your DNA test.

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