Genetic testing for certain health conditions, such as hereditary cancers, can be an empowering experience, enabling people to take control of their own health if they are at increased risk. A positive test result means you might choose to make different lifestyle choices that may reduce your risk of becoming ill.
You might also choose to undergo regular screening to monitor for early signs of disease, take preventative medication or encourage close family members to get tested too.
It is important to remember though that most tests eventually turn out negative, meaning that you are not the carrier of a faulty gene.
However, while anything that empowers individuals in relation to their health and wellbeing is a positive step, the impact of a positive test result should never be underestimated.
This is the reason that Myogenes insists that test results are always delivered by a registered clinician because, for some people, receiving their results can be a life-changing experience.
This is the case for both positive and negative results, as either way you will likely have questions that need to be answered by a medical professional.
Growing interest in DNA analysis has seen people choosing to undergo genetic testing to provide clues to their ancestry, but some people may unwittingly opt to have screening for certain genetic mutations without realising the full implications if the results come back as positive.
“I had just gotten home from the gym when I opened the email, saying a report was ready for me to read. That click changed my life forever. To my utter shock, the results showed that I have a mutation in a gene called BRCA1, which puts me at a huge risk of developing breast and ovarian cancer. I broke into tears.”
From a customer using an online-only genetic test with another provider*
In the case of testing for the BRCA1 and BRCA2 mutation, for example, a positive result means the individual is at a significantly higher risk of developing breast, ovarian, uterine and colorectal cancer – up to 40 times higher in some cases. To put this into context, while a person’s lifetime risk of breast cancer risk is around 5%, if they have an inherited genetic mutation, their lifetime risk can be as high as 87%. In the case of colorectal cancer, the figures are 5% compared to 82%.
Genetic testing is easy and quick to do – a simple saliva test is all that is needed – but this should not belie the potential seriousness of receiving results and knowing how to apply them to your unique situation.
How genetic testing works
The test is quick and painless, involving a simple cheek swab which is then sent off to the laboratory for testing. Scientists look for mutations in 98 genes associated with 25 hereditary cancers, including breast, ovarian, prostate, colon, stomach, head and neck. Within a few weeks, your doctor will receive an in-depth report containing your results and including a personalised health risk management plan.
If you want to just assess the risk of breast cancer, we also have a specific test that covers 15 genes associated with breast cancer, which includes BRCA1 and BRCA2.
Using this information you will be able to make informed decisions about your future health and wellbeing. Early detection of cancer is shown to dramatically improve survival rates so, if the test shows you are at increased risk you can discuss with your doctor taking proactive steps to protect yourself, including undergoing regular screening or possibly taking preventative medication, such as tamoxifen.
Who should have it?
You may wish to consider genetic screening if you fall into one of the following at-risk categories:
- You have a family member who developed breast, colorectal or endometrial cancer before the age of 50.
- You have a family member who developed a rare form of cancer (at any age).
- There is a family history of cancer, including combinations of cancers on the same side of the family.
- You are in an ethnic group (such as Ashkenazi Jewish) that is at increased risk of certain types of cancer.
You may also wish to have the test if you are healthy but concerned to know if you are at increased risk of cancer.