Genetic Testing for Cancer: Who Should Consider Testing and How It Can Help Prevent Cancer

Cancer care has advanced dramatically in recent years, with new treatments and sophisticated screening tools helping detect many cancers earlier than ever before.

However, one of the most powerful tools in cancer prevention may be understanding your inherited risk before cancer ever develops.

For individuals with a personal or family history of cancer, genetic testing for hereditary cancer syndromes can identify inherited gene mutations that may increase the risk of developing certain cancers, including breast, ovarian, colorectal, pancreatic and prostate cancers.

The National Cancer Institute reports that inherited gene mutations are responsible for approximately 5 to 10% of all cancers, with BRCA1, BRCA2 and Lynch syndrome among the most well-known hereditary cancer risk factors.

“At Beaufort Memorial, we can now look beyond generalized risk factors and family history alone,” says board-certified, advanced oncology nurse practitioner Kathryn Jones, FNP-BC, AOCNP, who manages the Beaufort Memorial Cancer Genetics and High-Risk Program as part of Beaufort Memorial Oncology Specialists. “Genetic testing allows us to identify individuals at increased risk and create personalized screening and prevention plans that can make a meaningful difference in long-term health outcomes.”

What Is Genetic Testing for Cancer?

Genetic testing analyzes your DNA to identify inherited gene mutations, also called pathogenic variants, that can increase cancer risk. Unlike tests used to diagnose cancer, hereditary genetic testing helps determine whether you have inherited gene changes that may make cancer more likely to develop during your lifetime.

Some of the most common hereditary cancer syndromes include:

• Hereditary Breast and Ovarian Cancer Syndrome (HBOC), associated with BRCA1 and BRCA2 mutations
• Lynch syndrome, which increases the risk of colorectal, endometrial and several other cancers
• Inherited mutations in genes such as PALB2, CHEK2, ATM, TP53 and others linked to elevated cancer risk

Understanding your genetic risk can help healthcare providers recommend earlier screening, preventive therapies and lifestyle modifications that may reduce the livelihood of developing cancer or detect it at its earliest, most treatable stage.

Read More: Could My Genetics Be What Causes Colon Cancer? 

Who Should Consider Genetic Counseling and Testing?

While genetic testing could technically be performed on anyone, national guidelines recommend testing for individuals with specific personal or family history patterns that suggest an inherited cancer risk.

Beaufort Memorial follows National Comprehensive Cancer Network (NCCN) guidelines to determine whether testing is appropriate, and which interventions may be beneficial.

You may benefit from genetic counseling and testing if you have:

• Ashkenazi Jewish heritage
• A known genetic mutation in your family
• Multiple relatives with breast, ovarian, pancreatic, colorectal, prostate or related cancers
• A family member diagnosed with cancer at a young age
• Multiple primary cancers or recurrent cancers
• Personal family history suggestive of Lynch syndrome or another hereditary cancer syndrome

At Beaufort Memorial, patients first meet with a genetics specialist to review their personal and family medical history. This counseling session helps determine whether testing is appropriate and ensures that patients understand the benefits, limitations and potential outcomes before proceeding.

What Happens During Genetic Testing?

Most hereditary cancer genetic tests require only a blood or saliva sample from the patient. The sample is then analyzed for specific gene mutations associated with inherited cancer risk.

Before testing, genetic counseling helps patients understand:

• Which genes are being tested
• What the results may mean
• Potential implications for family members
• Recommended next steps based on possible outcomes

Understanding Your Genetic Test Results

Genetic tests generally fall into three categories: positive, negative, and “variant of uncertain significance.”

Positive Result

A positive result means a harmful inherited mutation was identified. This does not mean that you currently have cancer or that you definitely will develop cancer. It does, however, indicate an increased risk.

Your healthcare team may recommend:

• Earlier or more frequent cancer screenings
• Breast MRI in addition to mammography
• Earlier colonoscopy screening
• Risk-reducing medications
• Preventive surgery in select cases
• Ongoing monitoring through a high-risk program

Negative Result

A negative result means no known cancer-related mutation was identified. However, it does not eliminate the possibility of developing cancer. Standard preventive screenings such as mammograms, colonoscopies and routine wellness exams remain essential.

Variant of Uncertain Significance (VUS)

Sometimes testing can identify a genetic change that researchers do not yet fully understand.

Known as a Variant of Uncertain Significance, or VUS, these findings usually do not lead to changes in medical management until more evidence becomes available.

Read More: Lung Cancer Risk Factors and a Lifesaving Screening

Why Family Members Should Know Your Results

Hereditary cancer mutations are passed from parent to child. Many inherited mutations, including BRCA1 and BRCA2, carry a 50% chance of being passed on to each child. Sharing your results with your relatives allows family members to discuss whether genetic counseling and testing may be appropriate for them as well.

For families with identified hereditary cancer mutations, this information can be life-changing, helping loved ones take preventive action years before cancer develops.

Genetic Testing Is Only One Piece of Cancer Prevention

Even for individuals without an identified genetic mutation, cancer prevention remains critical. Maintaining a healthy weight, avoiding tobacco, limiting alcohol consumption, staying physically active and following recommended screening guidelines all play important roles in reducing cancer risk.

Beaufort Memorial also offers cancer prevention, early detection and risk assessment services to help patients stay proactive about their health.

“Genetic testing is an important tool, but routine screenings remain one of the most important elements of preventive care,” Jones says. “Our goal is to identify risk early, detect disease sooner and help patients take control of their health.”

Read More: Could It Be Cancer? Key Symptoms Women Shouldn't Ignore

Genetic Counseling and Testing at Beaufort Memorial

The Beaufort Memorial Cancer Genetics and High-Risk Program provides individualized risk assessment, genetic counseling and hereditary cancer testing for patients who may be at increased risk due to family history or other factors.

Testing results and personalized recommendations are shared with patients and their healthcare providers to support ongoing care and prevention planning. Appointments are available in both Beaufort and Okatie.

An Important Tool for Cancer Prevention

Genetic testing helps identify inherited cancer risks so individuals and their families can take proactive steps toward cancer prevention.

1. Genetic testing can identify mutations like BRCA and Lynch syndrome that may increase a person’s risk for certain cancers and help guide personalized prevention strategies.
2. People with a strong family history of cancer, a known genetic mutation in their family or certain personal cancer histories may benefit from genetic counseling and testing.
3. Results can lead to earlier screenings, preventive treatments and informed family health decisions, helping detect cancer sooner or reduce risk before cancer develops.

Genetic counseling and testing for cancer are available through the Beaufort Memorial Cancer Genetics and High-Risk Program. Speak with your primary care provider about a referral or call 843-522-7350 for more information.