A doctor promotes genetic testing for cancer.

What to know about genetic testing for cancer

If you have a family history of cancer, you may wonder what is genetic testing and whether you should undergo testing.

Genetic testing or genetic screening is used to detect if there is a mutation in your genes that may indicate a higher risk for cancer. The testing involves examining your DNA, the chemical database that carries instructions for your body’s functions.

Who should consider genetic testing for cancer?

“People should consider genetic testing if they have a high-risk family history with multiple family members having breast, ovarian, pancreatic, male breast cancer or colorectal cancer and who have not had previous genetic testing,” said Crystal Sweeney, an advanced practice registered nurse specializing in cancer genetics at OSF HealthCare. “Also, people with a family member who has had cancer diagnosed under the age of 50 should consider genetic testing.”

What is a genetic risk assessment?

As part of your care, you may be asked to complete a genetic cancer risk assessment.

Preparing for a genetic risk assessment

> Download this checklist to prepare

This screening tool asks individuals questions about their personal history as well as their family history to help identify those at increased risk of developing cancer, Crystal explained.

Based on the results of the assessment, your provider may recommend undergoing genetic testing, which would involve providing a blood or saliva sample.

What cancers can be identified by genetic testing?

“We are not identifying cancers using genetic testing but looking for specific gene mutations that can increase the risk of someone developing a certain type of cancer,” Crystal said.

Even if a mutated gene is not found, that doesn’t necessarily mean you’ll never get cancer. For example, the majority of people who develop breast cancer don’t have the breast cancer BRCA gene. Also, while genetic testing is reliable, it may not be able to detect all genetic defects.

 Why is genetic screening and counseling important?

“If a genetic mutation is identified placing someone at an increased risk for a specific type of cancer, we can adjust the recommendations on what type of future screening they need and how frequently they need it,” Crystal said.

“It can also lead to genetic counseling about risk reduction measures. The goal of counseling is to identify those at increased risk of developing cancer to help reduce their risk or identify their cancer in the early stages when it is much more treatable and curable.”

Is genetic testing covered by insurance?

If a person qualifies for testing, then oftentimes the genetic testing cost is covered by insurance. A genetic cancer risk assessment, however, is free.

“If it is not covered by insurance, then the lab we use for testing has an affordable out-of- pocket cash pay option for testing,” she said.

Like any health care test or procedure, you should check with your insurance company about coverage before having any testing done.

Why would a doctor order genetic testing?

“A doctor may order a risk assessment or genetic testing when they identify that someone has multiple family members with cancer placing them at high risk,” Crystal said.

What to expect and how to prepare for a risk assessment

The risk assessment is a brief survey that asks patients about personal reproductive and medical history. It also specifically asks someone about family members who have had cancer.

“It helps if a person knows their family history related to cancers; for example, who has had what type of cancer and the approximate age of diagnosis,” Crystal said.

 What to expect if you find out you have a cancer gene

The likelihood of developing various cancers depends on the gene where the mutation is found.

If someone has a genetic mutation in a gene associated with an increased risk of developing cancer, Crystal said there will be a discussion to:

  • Detail what that gene is responsible for doing
  • Explain what type or types of cancer they may be at increased risk for
  • Determine the recommendations for moving forward to help reduce the risk of cancer or to be able to catch it early

Undergoing genetic testing is a personal decision. OSF HealthCare has genetic counselors, in addition to your health care provider, who can help you decide if testing is right for you.

Last Updated: May 8, 2023

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About Author: Lisa Coon

Lisa Coon is a Writing Coordinator for OSF HealthCare, where she has worked since August 2016.  A Peoria native, she is a graduate of Bradley University with a degree in journalism. Previously, she worked as a reporter and editor at several newspapers in Iowa and Illinois.

She lives in Groveland with her husband and son. In her free time she likes to cook, bake and read. She freely admits that reality TV is a weakness, and she lives by the quote, “The beach is good for the soul.”

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Categories: Cancer, General