Deep Dive
Why is it important to test the person in the family who has had a cancer diagnosis for genetic mutations?
Testing the person who has had a cancer diagnosis helps identify if there is a hereditary cancer mutation in the family. This is important because it can provide more accurate information about the genetic risk for other family members. If a mutation is found, it can guide more specific and targeted screening and prevention strategies.
What are the three possible outcomes of genetic testing for cancer risk, and what do they mean?
The three possible outcomes of genetic testing for cancer risk are: 1) Negative, meaning no known mutations were found; 2) Positive, meaning a mutation that increases cancer risk was found; 3) Variant of Uncertain Significance (VUS), meaning a genetic change was found but its impact on cancer risk is unknown. Negative and VUS results typically mean continuing to follow personal and family history for screening, while a positive result often leads to more frequent and specific screening guidelines.
Why is it important to consider genetic testing even if the results come back negative?
Even if genetic testing results are negative, it is important to consider the family history for cancer risk. A negative result does not rule out the possibility of a hereditary cancer syndrome, and individuals may still benefit from more frequent or earlier screening based on their personal and family history.
What is the Genetic Information Non-Discrimination Act (GINA), and what does it protect against?
The Genetic Information Non-Discrimination Act (GINA) is a federal law that protects individuals from discrimination based on their genetic information in employment and health insurance. It ensures that genetic information cannot be used to deny employment or health insurance coverage. However, GINA does not cover life insurance, long-term care, or disability insurance.
What are the different sizes of genetic testing panels, and what do they include?
The different sizes of genetic testing panels include: 1) Small, focusing on about 13 breast cancer genes; 2) Medium, covering common hereditary cancers such as breast, ovarian, prostate, pancreatic, and colon (about 48 genes); 3) Large, including rarer cancer syndromes and more genes (about 70 genes). The larger the panel, the more comprehensive the testing, but also the higher the chance of finding a variant of uncertain significance.
What is the typical turnaround time for genetic testing results, and how are they provided?
The typical turnaround time for genetic testing results is two to three weeks. Results are usually provided by a phone call from the genetic counselor, who will discuss the findings. If a longer conversation is needed, an in-person appointment can be scheduled. Results can also be emailed to the patient.
What are the insurance and cost considerations for genetic testing?
Genetic testing is often covered by insurance, especially if the patient meets National Comprehensive Cancer Network (NCCN) criteria. The lab will text the patient if there is an expected out-of-pocket cost. If insurance does not cover the test, a self-pay option of $249 is available.
- Mock genetic counseling session to demystify the process
- Involves a genetic counselor and a student
- Provides insights for students and the public
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