Once the lab receives your saliva sample, they will keep you informed on the testing process through email or text. They may also send emails reminding you to fill out your personal and family history. This helps the lab put your results in context. The actual genetic results usually come back within 3-4 weeks, and the lab will always reach out to you through phone call or email. Because of health privacy laws, Yodeah does not receive your identified results, but we are available and happy to help guide you through the process.
Your results will fall into one of three different categories:
- Negative: You do not carry a known pathogenic mutation/variant. This means that you do not carry a known hereditary cancer gene that can markedly increase your risk of some cancers. This is good news, but because most cancers are sporadic, meaning not associated with a hereditary cancer gene, you need to continue appropriate cancer screenings based on your age, family history and other factors. For example, if this genetic testing is negative and you have no family history of breast cancer, American College of Obstetrics and Gynecology currently recommends yearly mammograms beginning at age 40. However, if your genetic testing is negative but you have a strong family history of breast cancer, your doctor might recommend additional surveillance such as adding yearly breast MRIs to your yearly mammograms, or even medicines to prevent breast cancer. Or if you have a family history of breast cancer at a younger age, your doctor might recommend beginning screening earlier than age 40. Your doctor can always help put this into context for you.
- Positive: You carry a pathogenic genetic mutation/variant that is associated with an increased risk of cancer. This does not mean you have or will have cancer. However, this information allows you to establish a personalized medical plan with a physician or genetic counselor. You can discuss medicines and procedures to decrease your risk of cancer, or enhanced surveillance to diagnose cancer at its earliest, most treatable stage. We also recommend testing your family members to see if they have the same mutation. Finally, if you are planning a family, you can discuss options to prevent your children from inheriting the same mutation.
- Negative with a Variant of Unknown Significance (VUS): This is a result that is still negative for a pathogenic mutation, but you have some genetic variations that the lab does not have enough information to classify as benign (which we ignore) or associated with increased development of a cancer (pay attention to). Over time, as more information on these specific genetic variants are analyzed, the lab will have enough data to reclassify them and will contact you. Our experience has been that most of these variants get reclassified as benign (not bad, and therefore ignore). VUS are very common, and we treat this result just as we would a negative result, meaning we determine what cancer screening is appropriate based on your age, family history or other personal risk factors.
Caveats
- We are just at the beginning of understanding personalized genomic medicine and translating this information into risk of disease. We would expect over time there will be new genetic variants discovered that may affect your risk of cancer or other diseases, so over time additional testing (what your provider may call “update testing”) may be recommended. There also may be a change in family history or newer recommendations on how to prevent cancer or other diseases. We recommend you discuss any changes with your doctor on a regular basis to determine if additional screening or medical management would be indicated.
- The labs we use have post-test genetic counseling available by telephone, regardless of your result. However, we can also recommend a genetic counselor or a physician to help you assess your risk of cancer.
- Remember most cancers are not related to a known specific hereditary cancer mutation, so you never want to neglect age-appropriate screening, taking into account your individualized risk, including family history and personal history.
- This information is for guidance only. It is not meant to give specific medical advice. Always consult your health care provider for appropriate direction.