Genetic Testing
Genetic testing for cancer risk involves analyzing a person’s DNA to identify inherited mutations that may increase the likelihood of developing certain types of cancer. This information can help individuals make proactive health care decisions, including more frequent screenings, lifestyle changes, preventive medications or even risk-reducing surgeries. Genetic testing is often recommended for people with a personal or family history of cancer, especially if the cancers occurred at a young age or follow a particular pattern within a family.
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Cancer Genetic Testing & Counseling
Is genetic testing right for me?
Genetic testing can help determine whether you were born with an inherited genetic change that increases your risk for certain cancers.
You may benefit from a cancer genetics evaluation if you:
- Have been diagnosed with cancer at a younger-than-expected age
- Have had more than one type of cancer
- Have multiple family members with the same or related cancers
- Have a family history of certain cancers, such as breast, ovarian, pancreatic, prostate, colorectal, or uterine cancer
- Have a relative with a known hereditary cancer-related genetic mutation
- Have been diagnosed with a cancer for which genetic testing may help guide treatment
- Have concerns about your personal or family history of cancer
You do not need to determine on your own whether you qualify for genetic testing. During your appointment, we will review your personal and family history and discuss whether genetic testing may be appropriate for you.
Q: What is genetic testing?
A: Genetic testing looks at your DNA to determine whether you were born with a genetic change that may increase your risk for certain cancers.
Results can help you and your healthcare team better understand your cancer risks and make informed decisions about cancer screening, prevention, and, in some cases, treatment.
Q: What happens during a cancer genetics appointment?
A: During your appointment, we will review your personal medical history and your family’s history of cancer. We will discuss whether the pattern of cancers in your family could be related to an inherited cancer predisposition and whether genetic testing may be helpful.
If you decide to have genetic testing, we will discuss which test is appropriate, possible results, insurance coverage and cost considerations, and what the results could mean for you and your family.
Q: Cancer runs on my father's side of the family. Does that still count?
A: Yes. Your mother’s and father’s family histories are equally important.
Hereditary cancer-related genetic changes can be inherited from either parent and can be passed on to both sons and daughters.
For example, BRCA1 and BRCA2 mutations can be inherited through either side of the family. Men who carry these mutations can also have increased cancer risks and can pass the mutation on to their children.
When reviewing your family history, be sure to tell us about cancers on both sides of your family.
Q: Will genetic testing tell me if I am going to get cancer?
A: No. Genetic testing cannot tell us with certainty whether someone will or will not develop cancer.
Some inherited genetic changes can significantly increase the risk for certain cancers, but an increased risk does not mean that cancer will definitely occur.
Genetic testing helps us better estimate your cancer risk so that we can recommend appropriate screening and prevention strategies.
Q: Is genetic testing helpful if I already have cancer?
A: Yes. Genetic testing can provide important information even after a cancer diagnosis.
Depending on the type of cancer and the genetic test result, this information may:
- Help guide certain treatment or surgical decisions
- Identify whether you have an increased risk for other cancers
- Help guide future cancer screening
- Provide important information for your children, siblings, and other relatives
For some cancers, genetic test results may also help determine whether certain targeted treatments are appropriate.
Q: What types of genetic test results could I receive?
A: There are three common types of results:
Positive: A disease-causing genetic change, called a pathogenic variant, was identified. Depending on the gene, this may mean that you have an increased risk for one or more cancers.
Negative: No disease-causing genetic changes were identified on the test. A negative result does not necessarily mean that your cancer risk is average. Your personal and family history still matter when determining appropriate cancer screening.
Variant of Uncertain Significance (VUS): A genetic change was identified, but there is not currently enough information to determine whether it affects cancer risk. A VUS is not considered a positive result and generally should not change your medical care.
Your genetics provider will explain your individual results and what they mean for you.
Q: If my genetic testing is negative, does that mean I will not get cancer?
A: No. A negative genetic test does not mean that you have no risk of developing cancer. A negative result means that testing did not identify an inherited genetic change known to explain an increased cancer risk. Most cancers are not caused by an inherited genetic mutation.
Your personal history and family history may still increase your cancer risk even when genetic testing is negative. We will discuss what cancer screening is appropriate for you based on your overall risk.
Q: If I test positive, what does that mean for my family?
A: Because hereditary genetic changes can be passed through families, a positive result may also provide important information for your relatives.
For many hereditary cancer conditions, each child of someone with a genetic mutation has a 50% chance of inheriting the same mutation. Depending on the condition, siblings and other relatives may also be at risk.
If a mutation is identified, we will discuss which relatives may benefit from genetic testing and provide information that you can share with your family.
Q: Should I have genetic testing if someone in my family already tested positive?
A: Often, yes.
If a relative has a known hereditary cancer-related genetic mutation, testing can determine whether you inherited the same mutation. This is sometimes called family testing or cascade testing.
If possible, please bring or send us a copy of your relative’s genetic test report. Having the actual report allows us to confirm the exact gene and genetic change and helps ensure that the appropriate testing is ordered.
Q: Who in my family should be tested first?
A: When possible, genetic testing usually provides the most information when it begins with a family member who has had cancer.
However, this is not always possible. If an affected relative is unavailable or unable to have testing, an unaffected family member may still benefit from genetic testing.
We can review your family history and help determine the most informative testing approach.
Q: If I test positive for a genetic mutation, will I lose my health insurance?
A: Federal law provides important protections against genetic discrimination.
The Genetic Information Nondiscrimination Act (GINA) generally prevents health insurance companies from using genetic information to determine health insurance eligibility or premiums. GINA also provides protections against genetic discrimination in many employment situations.
However, GINA does not provide the same protections for life insurance, disability insurance, or long-term care insurance. Other federal or state protections may apply.
If you are concerned about insurance or genetic discrimination, we encourage you to discuss these concerns with us before proceeding with testing.
Q: Is genetic testing covered by insurance?
A: Many insurance plans cover genetic testing when certain medical or family-history criteria are met. Coverage and out-of-pocket costs vary depending on your insurance plan and the laboratory performing the test.
For patients whose insurance does not cover testing—or who choose not to use insurance—some laboratories offer self-pay options.
We can discuss expected costs and available options before testing is ordered.
Q: Will my genetic information stay confidential?
A: Genetic test results obtained as part of your medical care become part of your protected health information and are subject to applicable medical privacy laws, including HIPAA.
Clinical genetic testing laboratories must also meet federal standards for laboratory quality.
If you have concerns about how your genetic information is stored, shared, or documented in your medical record, please ask us before proceeding with testing.
What to Expect at Your Appointment
Before your visit
Try to gather as much information as you can about cancer in your family. Helpful information includes:
- Who in the family had cancer
- What type of cancer they had
- Their age when they were diagnosed
- Whether the relative is on your mother’s or father’s side of the family
- Whether anyone in the family has already had genetic testing
If a family member has previously had genetic testing, please bring a copy of their genetic test report if possible.
Don’t worry if you cannot find all of this information. We can still review the information you have.
During your visit
We will review your personal and family history, discuss whether genetic testing may be helpful, and answer your questions.
If testing is appropriate and you choose to proceed, we will discuss the benefits and limitations of testing, possible results, potential costs, and what the results could mean for you and your family.
After genetic testing
When your results are available, we will explain what they mean and discuss any recommendations for you and your family.
Depending on your results and personal and family history, recommendations may include:
- Continuing routine cancer screening
- Starting cancer screening at a younger age
- Having certain screenings more frequently
- Considering additional types of cancer screening
- Discussing options to reduce cancer risk
- Sharing information with relatives who may also benefit from genetic testing
Genetic testing is only one part of understanding your cancer risk. Your personal medical history and family history remain important when determining the screening and prevention plan that is right for you.
Have Questions About Genetic Testing?
If you have questions about hereditary cancer risk or whether genetic testing may be appropriate for you, our Cancer Genetics and Prevention Clinic is here to help. Ask your healthcare provider about a referral to the Cancer Genetics and Prevention Clinic or call us at 605-755-2223.
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