Explaining Cascade Testing for Genetic Conditions

At Genetics.ie, we regularly bring you blogs like this one to help our readers understand genetic testing and how it helps people obtain important information about their health. Today, we look at something known as Cascade Testing and who can benefit from it. 

Cascade testing refers to the process that occurs when a genetic condition is discovered within the family, whereby other family members are informed and tested for the same condition. Many are not aware of having a genetic condition until its symptoms begin to affect their lives. 

Finding Genetic Conditions Before Symptoms Appear

By the time symptoms appear, available treatments may be less likely to be effective. Cascade testing allows genetic conditions to be discovered before symptoms appear, allowing people to take the necessary steps to prevent or treat the disease early.

Should you be diagnosed with a genetic condition, there's an increased likelihood that your family members may also have it. By sharing your diagnosis with your family, they're able to learn more and get tested for the condition themselves.

The Cascade Process Checks the Most Likely First 

With cascade testing, family members with the highest likelihood of having the same genetic change are tested first. Genetic testing then 'cascades’ through the family, depending on who is found to have the genetic change and who isn't. 

For instance, if your mother has the change and your father doesn't, your mother's side of the family would be tested, whereas your father's would not. 

Sharing Your Diagnosis with Family Members 

The first part of cascade testing is the act of sharing your diagnosis and genetic test results with other family members. You can do so by doing the following:

  • Sharing your lab results or blood work (some genetic conditions, like familial hypercholesterolemia, don't require genetic testing)

  • Working out which family members need to be tested first (children, siblings & parents are most likely to have the same condition) 

  • Giving them a copy of your genetic test report

Ideally, you should talk to your family members directly. However, this might not always be possible. For example, they may not be available or not want to be tested. 

Finally, we emphasise that consent is a central part of sharing any genetic test results through Genetis.ie

Helping You Get the Health Answers You Need 

From our Blackrock Clinic, we offer a range of genetic testing services under the supervision of our founder, the experienced Dr. Willie Reardon. Whatever your reasons for visiting us, you can rest assured that we'll use our expertise to interpret your test results correctly and give you the important health answers you need to protect yourself and your family. 


To find out more about what we do, visit us today at www.genetics.ie, where you'll discover everything you need to know. Alternatively, to speak with our expert team about your testing requirements, call 087 4037149, and we'll gladly help.

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Inherited Cardiovascular Diseases & When Genetic Screening Makes Sense

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When Genetic Testing Might Help to Diagnose a Child's Condition