Genetic counseling and testing

During a genetic counseling visit, you will meet one-on-one with a genetic counselor who will review your medical history and your detailed family history and perform a cancer risk assessment based on the information you provide. The genetic counselor will discuss the benefits, risks and limitations of genetic testing, and whether it is an option you or your family should consider, based on your personal risk factors. If you decide to proceed with genetic testing, the genetic counselor will coordinate the testing, interpret the testing, and walk you through next steps for you and your family members.

Most important is for you to try to gather detailed information about your family history of cancer. Your genetic counselor will want to know which family members have had cancer, what type of cancer they had, and approximately what age they had it. If you have been referred, it is important that you fill out our online genetic risk assessment questionnaire before your appointment, which will be emailed to you. If you or any of your family members have had genetic testing in the past, it would be helpful to obtain a copy of the report and bring it to your appointment.

Genetic testing is performed on a saliva sample or a blood sample. Results usually take 2-3 weeks to get back. During your genetic counseling visit, your genetic counselor will help decide what test is most appropriate for you.

Genetic testing is usually covered by insurance if you meet their specific criteria based on your medical and/or family history. If your doctor referred you for genetic counseling, it is likely you are a good candidate for genetic testing. At your appointment, your genetic counselor will help determine whether you meet your insurance company’s specific criteria for coverage and will explain the billing policies of the genetic testing lab. If testing is not expected to be covered, or you aren’t comfortable with your out-of-pocket cost, then you can decide not to pursue testing. Financial assistance programs and grant funding are also available. If not using insurance, the self-pay price is typically around $250.

No. Genetic counseling and genetic testing are optional. If you aren’t sure about whether you would want to pursue genetic testing, you should still consider going to the genetic counseling visit for a risk assessment and to get educated about genetic testing to help you with this decision. After your genetic counseling visit, there is no obligation to pursue testing. Even if genetic testing does not feel like the right choice now, that does not mean you cannot change your mind in the future.

The purpose of genetic testing is to help you and/or family members be proactive if you have a high risk for cancer. There are many options for cancer risk-reduction and early-detection if you are found to have a high risk. Recommendations vary depending on the specific gene and associated risks, ranging from starting cancer screenings at a younger age, having additional or more frequent cancer screenings, establishing care with a specialist for close monitoring, implementing lifestyle modifications, or considering risk-reducing medications or surgery. For individuals who have a cancer diagnosis, genetic testing may impact their treatment decisions.

The Genetic Information Nondiscrimination Act prohibits health insurance companies and employers from discriminating based on results of genetic testing in unaffected individuals. There are a few exceptions, which your genetic counselor can discuss with you. This law does not prohibit genetic discrimination when it comes to life, disability, and long-term care insurances.

Ideally, the family member(s) who have had cancer would be the first people to get genetic testing in the family, and if those family members test positive, then testing in the rest of the family should be considered. However, those family members may not always be available for testing or willing to be tested, so testing in family members who have not had cancer is very often still appropriate. Your genetic counselor will help discuss testing strategies to help get the most information for you and your family.

Genetic testing technology and knowledge have changed significantly in a relatively short amount of time, so even if you or a family member had testing several years ago, more comprehensive testing is now available and should be considered for most families who had testing in the past. Newer testing usually involves testing of additional (more newly discovered) genes and analysis of formerly tested genes using better technology.