Genetic Testing

Staying One Step Ahead of Cancer

If you could stay one step ahead of cancer, would you? UofL Health – Brown Cancer Center offers genetic counseling and testing to help assess for and identify risk for hereditary cancer syndromes.

What is Genetic Testing?

There are many different types of genetic testing. Germline testing, also known as hereditary genetic testing, can help to identify genetic changes that can increase risk for developing certain types of cancers or disease. The conditions or risks found with hereditary genetic testing are capable of being passed on within a family.

One of the goals of genetic testing is to identify patients that are at high risk for cancer. Having this knowledge allows for prevention of a diagnosis of certain types of cancer through prophylactic (preventative) surgeries or allows for early detection through screening. When cancer is detected at an early stage, it is often curable or much more manageable.

Genetics is a rapidly changing field and testing that is done today is very different from the testing that was done even five to 10 years ago. For example, the BRCA1 and BRCA2 genes that are associated with increased risk for breast cancer, ovarian cancer, pancreatic cancer, prostate cancer and melanoma were discovered in the mid-1990s.

Today, there are more than 21 genes that may be included on a panel for increased risk for breast and ovarian cancer. A person with an extensive family history of multiple types of cancers may have more than 80 genes tested.

Who Should Pursue Genetic Testing?

While anyone can make an appointment for genetic counseling and testing, there are certain red flags that may be concerning for a hereditary cancer syndrome. If one or more of the following describes your health history, you should discuss the possibility of genetic testing with your health care provider:

  • Multiple family members with a cancer diagnosis or with more than one type of cancer
  • Multiple family members with breast or ovarian cancer
  • Multiple family members with colon cancer or colon polyps
  • Family members with cancer diagnosed at or under the age of 50
  • Having 10 or more polyps identified at one time on a colonoscopy
  • Ashkenazi Jewish ancestry
  • Unknown family history (adopted, estranged from family, limited family structure)

Genetic testing is often used in the care of patients with cancer to help determine appropriate surgical and/or treatment options and to help identify if other family members may be at risk.

What is Discussed at a Genetic Counseling Visit?

During a genetic counseling visit, you and your provider may discuss:

  • Personal and family history
  • Risk for hereditary syndromes
  • Basic concepts of genetics and inheritance
  • Benefits and limitations of testing
  • Management recommendations and guidelines for screening
  • Reproductive implications and how to discuss potential results with family
  • Social, financial and legal implications, including the Genetic Information Nondiscrimination Act
  • Potential referrals to other medical specialties or clinics, such as the High Risk Breast Clinic at UofL Health – Brown Cancer Center

What Happens if I Have a Positive Test Result?

If genetic testing reveals a mutation, also known as a pathogenic variant, a patient will be scheduled for a post-test genetic counseling visit. At this visit a patient can expect the following to occur:

  • Interpret and discuss genetic testing results
  • Discuss disease or cancer risk associated with findings
  • Discuss management and screening recommendations
  • Formulate a plan for disclosing results to family members
  • Arrange testing for family members who would like to pursue testing
  • Receive referrals to other health care providers who may be needed, such as a breast surgeon, gastroenterologist or fertility specialist

Will Health Insurance Pay for Genetic Testing?

In many instances, insurance companies will pay for all or a portion of the cost of genetic testing. A common misconception is that genetic testing is very costly and not accessible for many patients.

While it is true that genetic testing used to be very expensive, it has become much more affordable when it is not fully covered by insurance. Most genetic testing companies used by health care facilities cap cost at or around $250. The Genetic Information Nondiscrimination Act prohibits health insurance companies from denying coverage or increasing premiums based on genetic testing results.

UofL Health – Brown Cancer Center is committed to identifying patients at increased risk and establishing a personalized plan of care based on your needs. To schedule an appointment for genetic counseling and testing or to learn more, call 502-562-HOPE (4673).

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Article by: Meredith Haedtler, APRN

Meredith Haedtler, APRN, started her career as a nurse at UofL Health – UofL Hospital on the inpatient oncology unit (6 South) where she worked for five years. While working inpatient, she completed the family nurse practitioner program at Bellarmine University and obtained her master of science in nursing. At UofL Health, Meredith is a medical oncology nurse practitioner who has a certificate in genetic cancer risk assessment. She sees patients at UofL Health – Brown Cancer Center in its downtown and UofL Health – Medical Center Northeast locations.

All posts by Meredith Haedtler, APRN
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