Overview

Genetic testing can help identify inherited risks for certain gastrointestinal cancers, including colorectal cancer. It does not diagnose cancer, but it can guide screening, prevention, and personalized care for individuals with specific personal or family history patterns.

What Is Genetic Testing?

Genetic testing looks for inherited changes in genes that may increase the risk of certain cancers or gastrointestinal conditions. It helps identify risk, not whether a disease is currently present.

When Is Genetic Testing Recommended?

Genetic testing may be appropriate if you have:

• Colorectal cancer diagnosed before age 50
• A strong family history of colorectal, gastric, pancreatic, or related cancers
• Multiple family members with the same or related cancers
• Numerous or unusual colon polyps
• A known genetic mutation in a close relative

These patterns may suggest an inherited cancer syndrome.

What Genetic Testing Does (and Does Not Do)

Genetic testing does not diagnose cancer. Instead, it helps determine whether a person has an inherited risk that may warrant earlier or more frequent screening.

How Is Genetic Testing Performed?

Testing is typically done using a blood or saliva sample. Results are interpreted in the context of personal and family history, often with the support of genetic counseling.

Understanding the Results

Results may include:

• Pathogenic mutation: A gene change associated with increased cancer risk
• Negative result: No known mutation identified
• Variant of uncertain significance (VUS): A finding that usually does not change care but may be reclassified over time

Your physician will explain how results may affect screening and follow-up recommendations.

How Genetic Testing Can Affect Care

When indicated, genetic testing may lead to:

• Earlier or more frequent colonoscopy or other screening
• Personalized cancer surveillance strategies
• Recommendations for family members to consider testing

When Genetic Testing Is Unlikely to Be Helpful

Genetic testing is not routinely recommended for individuals who:

• Have no personal or family history of gastrointestinal cancers
• Have average, age-appropriate colorectal cancer risk
• Are seeking testing without a medical indication
• Have common symptoms (such as constipation or abdominal discomfort) without features of a hereditary syndrome

In these situations, testing is unlikely to change management and may lead to unnecessary anxiety.

Should Genetic Testing Be Repeated?

In some cases, yes. Genetic testing panels continue to evolve as new genes are identified. Repeat or updated testing may be considered if:

• Prior testing was limited or performed several years ago
• Personal or family history has changed
• New testing options are available

Insurance and Genetic Testing

For most individuals, genetic testing does not affect health insurance or employment. In the United States, the Genetic Information Nondiscrimination Act (GINA) provides protections:

• Health insurers cannot use genetic information to deny coverage or adjust premiums
• Employers cannot use genetic information in hiring or employment decisions

However, GINA does not apply to:

• Life insurance
• Disability insurance
• Long-term care insurance

For this reason, some individuals choose to secure these policies before undergoing testing.

When Should I Discuss Genetic Testing?

You should consider discussing genetic testing if you have:

• A personal or family history of gastrointestinal cancers
• Early-onset cancer
• Multiple affected relatives

Your physician can help determine whether testing is appropriate and guide next steps.