Understanding Genetic Testing

What is genetic testing?

Genetic testing is the process of using medical tests to look for specific changes (variants/mutations) in a person’s genes when they have features of a hereditary condition. This is usually done by a blood or saliva sample. Most genetic testing is ordered through specialized health care providers and sent to specific genetic labs.

Why are hereditary risk assessment and genetic testing important?

By determining whether an individual is at an elevated risk for cancer based on a gene mutation or strong family history, we can offer personalized options for medical management, lifestyle choices, and family planning. This includes:

• Screening for cancers (at a younger age, more frequent intervals, and/or using different technology)
• Cancer prevention or risk reduction (through surgery or medications)
• Potential specialized cancer treatment
• Potential modification of cancer risk through diet and exercise
• Information regarding risks to children and other family members

What is involved in a cancer genetics appointment?

Hereditary cancer risk assessment is the process of learning how genetics play a role in cancer risk and how likely your family is to have inherited predispositions to certain cancers.

We know the decision to undergo genetic testing can be difficult; our knowledgeable and compassionate team is here to help you navigate the process.

Prior to having a cancer genetics appointment, you will receive paperwork to complete regarding your health, and an online link to enter your family history. It is important to provide any medical records including pathology reports or copies of genetic test results for you and/or other family members.

At the appointment, you will learn about the role of genetics in cancer risk as well as what type of testing (if any) is recommended for you. You will also learn the risks, benefits, and limitations of this testing. We will discuss the medical, social, emotional, and ethical impact of genetic testing on you and your family.

Once testing is complete, we review results with you and can personalize your screening and treatment plan. We will also discuss the potential impact on family members and identify appropriate resources.