Cancer Risk and Genetic Testing

Risk for cancer

The risk to develop cancer is influenced by a combination of genetic, lifestyle, and environmental factors.  Understanding your risk factors is important.  The majority of cancers are caused by a combination of factors, but family history and inherited genetic mutations, such as BRCA1/2, and Lynch syndrome, can significantly raise the risk of cancer. 

Risk assessment

There are risk models, such as the Tyrer-Cuzick model, that can help estimate the risk for a woman to develop breast cancer based on family history and personal factors.  When the lifetime risk to develop breast cancer is estimated to be higher than average, increased screening may be warranted. 

Genetic Testing

While many people have a history of cancer in their family, only 5% to 10% of cancer is hereditary.  A family history of certain types of cancers, multiple relatives diagnosed with cancer, or cancer diagnosed at an early age may warrant genetic testing to evaluate for a hereditary risk for cancer.  Genetic test results may help your healthcare provider fine-tune your cancer screening plan, including what you’re your start screening, as well as the type and frequency of screening.  Genetic test results may also lead to preventive options to lower your risks of specific type of cancer.  Your doctor or genetic counselor may identify and discuss other personalized medical management options based on a genetic test result.

Possible test results from genetic testing: (may not need to be included – but pulled from patient education)

POSITIVE:

A mutation was found in at least one of your genes tested. Detection of a mutation in a hereditary cancer-related gene indicates that you are at an increased risk for cancer compared to others.Based on your results, genetic testing for certain family members may be recommended.

NEGATIVE:

No genetic mutations were found in any of the genes analyzed. While your genetic test results were negative, personal and family history may still impact your risk for cancer.  Family history-based risk models, such as the Tyrer-Cuzick risk model, may still lead to a recommendation for increased breast screening. 

VARIANT OF UNCERTAIN SIGNIFICANCE (VUS):

At least one genetic variation or difference was found, but it is unclear if this variant impacts risk to develop cancer. Most VUSs are ultimately reclassified as benign. 

Genetic Counseling

Genetic counselors are licensed healthcare providers who have advanced training in medical genetics and counseling to guide and support patients seeking more information about how inherited risk for disease may affect them or their families. Genetic counselors can order and interpret genetic test results based on personal and family histories.  Using risk information gained from genetic testing or risk assessment, a genetic counselor can discuss options for increased screening and risk reduction. Link genetic counseling page

High-Risk Screening and Prevention Program

There are interventions and increased screening options available for individuals who have an increased risk to develop cancer in their lifetime. A high-risk clinic provides care, education, and access to preventative services for individuals at increased risk for certain types of cancer.

High-Risk Clinic visits typically include:

  • Review of completed risk assessments/genetic testing
  • A physical exam
  • Education and counseling regarding risk-reducing interventions
  • Coordination of increased screening
  • Referrals to other specialists as needed

Link high risk page

CARE program

Patients scheduled for a mammogram at a Baptist Health may receive an email or text before their appointment with a link to a questionnaire.  This questionnaire will ask a series of family history and health history questions in order to generate a risk assessment.  If the results from your risk assessment suggest genetic testing or increased breast screening may be warranted, a Baptist Health navigator will contact you. 

Link to informational video