What will my results tell me and how can I better understand them?
Your results will come in the form of a multi-page report and will indicate which genetic variants, if any, you were identified to carry. The report will detail information regarding any conditions or symptoms associated with the genetic variant(s) identified, will give specific information regarding the location of the variant(s) and any literature available pertaining to the variant(s), and if the variant(s) identified could impact medical management.
Regardless of the result of your genetic testing, discussing your results with a clinician and/or a genetic counselor is recommended so that you may get the most out of your genetic testing and any questions you may have regarding the impact of your results on your medical management may be addressed.
It is important to remember that we share our genes and genetic variations with our family members, so any variant(s) identified through your genetic testing may also have been inherited by a family member and may impact their health care.
What if I receive a result of a variant of uncertain significance?
A variant is classified as one of uncertain significance, also known as VUS, if there is little or conflicting evidence regarding the impact of the variant on the gene’s protein product or little or conflicting information associating the variant to a disease or condition. VUS are relatively common and should not be used to alter medical management. As time goes on and more is known about the gene or variant, the variant may be reclassified; if it has been two years or more since you received your genetic test results and you would like to know if the variant has been reclassified, please email email@example.com to request more information.
Should I tell my family about my results?
Considering we share 50% of our genetic make-up with our first degree relatives (our parents, siblings, and children), any pathogenic or likely pathogenic result you receive may also have implications for the health and medical management of your relatives.
The decision to tell family members about genetic test results is very personal. Some individuals find it helpful to discuss that they plan to pursue genetic testing and that the results may impact other family members before they pursue testing, others feel comfortable sharing their health history and genetic test results freely with family members, while still others prefer to keep their health history private. If you are unsure if you should discuss your genetic test results with your family, consider discussing your concerns with a genetic counselor or your healthcare provider so they may help you reach the best decision for you and for your family.