Genetic Testing – Understanding the Role of Germline versus Tumor Testing

19 May 2020 by Pink Hope Team
Genetic Testing – Understanding the Role of Germline versus Tumor Testing

Hereditary cancers are caused by gene mutations that people are born with and these genes can be passed down to an individual from either their mother or their father. Inherited genetic mutations play a significant role in about 5 to 10 percent of all cancers.  

With the personalisation of treatment through advances in precision medicine and, more specifically, genetic testing, we are seeing exciting changes to the care of many individuals diagnosed with hereditary cancers.   

With this in mind, we have pulled together the below outline of exactly what tumor and germline testing is, to keep you educated, informed and empowered when it comes to your own healthcare journey.  

Genetic testing is used in both germline and tumour testing, with each providing specific data which is used to guide treatment plans and to identify potential future risks for a patient and their family members. 

Tumor testing can predict how aggressively a cancer may behave and whether it’s likely to recur, whilst also providing information that can inform cancer treatment options and the opportunity for participation in clinical trialsTumor testing looks only for abnormalities in cancer cells and is carried out on tumor tissue. 

Germline testing provides a precise risk evaluation to support preventative screeningmedical and surgical options that reduce risk Germline testing is carried out on cells that do not have cancer and is usually performed on bloodsaliva or skin cells. 

It’s important to note that information that is gained from germline and tumour testing may overlap. For example, a woman with breast cancer who has an inherited BRCA mutation will also have the same mutation in her tumor. At times, depending on the specific cancer, both tumor and germline testing may be used to help determine treatment options. 

Genetic Counsellors play an important role in helping individuals and families learn how gene mutations are inherited and who in the family may be at risk. They also provide emotional support and counselling throughout the genetic testing process. 

You can access the Ask Our Genetic Counsellor service here, this service provided by Pink Hope allows you to submit questions relating to your risk of breast and ovarian cancer to our qualified Genetic Counsellor. 


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