Some tumor biomarker tests completed through molecular profiling of cancer DNA from tumours looks for gene mutations in cancer cells. The gene mutations form the basis for highly targeted personalized therapy for cancer.

These tests are different from genetic tests for inherited cancer risk. The genetic tests for inherited cancer risk are known as germline profiling of the whole person.

As cells become cancerous, they develop many gene mutations that cause abnormal growth.

These gene changes, which occur after you are born and throughout your life—are known as acquired or “somatic” mutations. 

Acquired or somatic mutations are different than inherited mutations, which are passed on from parent to child and are present at birth in every cell. 

The findings of a study published in Jama Online suggested that germline analysis (inherited genes producing cancer risk) following tumor sequencing will produce findings that may impact patient care by influencing systemic therapy choices, surgical decisions, additional cancer screening, and genetic counseling in families.

A recent case which we managed at RCM Health Consultancy involved a review of the client’s genes to understand how this client would metabolize chemotherapy agents. By looking at the genes, the consultant was able to inform the client about dosing of appropriate chemotherapy agents. This was very valuable for this client and his/her oncologists. This field of expertise is called oncogenomics.

Current guidelines and tumor testing approaches appear to provide evidence of many of these germline findings, reinforcing the use of both expanded germline follow-up testing as well as germline analysis independent of tumor sequencing in appropriate patients.

The combination of germline testing ( for inherited cancer risk) and the analysis of cancer DNA ( through molecular profiling) is a powerful set of tools for the cancer patient.

Raymond Rupert patient advocate and healthcare consultant.