Why Genetic Testing is Useful in Detecting Cancer

The National Cancer Institute (NCI) is the federal government’s primary cancer research and training agency. NCI leads the nation’s research efforts to improve cancer prevention, detection, diagnosis, and survivorship. It supports 72 NCI-Designated Cancer Centers and more than 5,000 grantees. The organization also coordinates and supports all phases of clinical trials across 2,500 clinical trial sites nationwide, seeking to develop new and improved cancer treatments.

According to the NCI, cancer is a genetic disease that is caused by changes in genes that control the way cells grow and multiply. As the building blocks of your body, each cell has a copy of your genes, which act like an instruction manual.

Genes are sections of DNA that carry instructions to make a protein or several proteins. Scientists have found hundreds of DNA and genetic changes (also called variants, mutations, or alterations) that help cancer form, grow, and spread.

The NCI says cancer-related genetic changes can occur because:

  • Random mistakes in our DNA happen as our cells multiply 
  • Our DNA is altered by carcinogens in our environment, such as chemicals in tobacco smoke, UV rays from the sun, and the human papillomavirus (HPV) 
  • They were inherited from one of our parents 

Is cancer hereditary? 

The NCI states that “cancer itself can’t be passed down from parents to children. And genetic changes in tumor cells can’t be passed down. But a genetic change that increases the risk of cancer can be passed down (inherited) if it is present in a parent’s egg or sperm cells.”

What it means is that if a parent passes a mutated BRCA1 or BRCA2 gene to their child, the child will have a much higher risk of developing breast and other cancers. This is why cancer sometimes appears to run in families. Inherited genetic changes may cause up to 10% of all cancers. 

However, inheriting a cancer-related genetic change doesn’t mean you will definitely get cancer. It just means that your risk of getting cancer is increased. 

Genetic testing – critical in assessing cancer risk

Certain genetic tests can identify inherited genetic changes that increase cancer risk. The testing is typically done with a small sample of blood but can also be conducted with saliva, cells from inside the cheek, or skin cells.

Not everyone needs genetic testing for cancer risk. Your doctor or healthcare provider can help you decide if you should get tested for genetic changes that increase cancer risk. They will ask if you have certain patterns in your personal or family medical history, such as cancer at an unusually young age or several relatives with the same kind of cancer. 

If genetic testing is recommended by your doctor, the NCI advises talking with a genetic counselor who can help you consider the potential risks, benefits, and drawbacks of genetic testing in your particular situation. After testing, a genetic counselor, doctor, or health care professional trained in genetics can help you understand what the test results mean for you and your family.

Genetic tests can help families with a history of breast and ovarian cancer make screening and treatment decisions. 

For more information on the available tests and who may want to consider them, see Genetic Testing for Inherited Cancer Susceptibility Syndromes

Biomarker testing for cancer treatment

For those with cancer, a different type of genetic test called a biomarker test can identify genetic changes that may be driving the growth of your cancer. This information can help doctors decide which therapy might work best for you or if you may be able to enroll in a particular clinical trial. For more information, see Biomarker Testing for Cancer Treatment. Biomarker testing may also be called tumor profiling or molecular profiling. 

Benefits of genetic testing for cancer

The primary benefits of genetic testing are:

  • Help you better understand your risk of cancer.
  • Relieve your anxiety or uncertainty about cancer risk.
  • Help you make decisions about your health and learn ways to help lower your risk of cancer.

According to the National Library of Medicine, “Breast cancer (BC) genetics has become a fundamental aspect of BC management. It influences screening, follow-up, prophylactic and therapeutic recommendations in women harboring a germinal BC susceptibility gene. In addition, it helps to identify patient subgroups with either a different prognosis or different response to treatment.”

Incorporated into Ikonopedia’s comprehensive workflow

Early screenings and genetic tests are crucial. Ikonopedia simplifies the process for breast cancer imaging centers:

  • Patients are flagged if they meet The National Comprehensive Cancer Network (NCCN) criteria during the intake process.
  • Tests can be added, including a seamless integration for a patient’s genetics test.
  • Workflow is optimized for patient screening, lessening staff workload while offering more comprehensive cancer risk insights.
  • The result: Patients can start mammograms earlier if there is a genetic mutation in the family.

Sources for this blog post include:

National Cancer Institute – The Genetics of Cancer

National Library of Medicine – Breast Cancer Genetics: Diagnostics and Treatment