FAQs: Genetic counseling

Genetic counselors are healthcare providers specifically trained in medical genetics. They are experts at explaining complex genetic concepts and analyzing family history to understand disease risk. They also help people understand what their genetic test results mean for themselves and family members.

Why is it important to understand my family health history?

A genetic counselor will likely ask you about your family health history. Download this flyer to learn more.

Yes. If you have undergone testing wtih Invitae, you may have the option to schedule a comprehensive post-test genetic counseling appointment. Genetic counseling appointments are available to patients located in the US, US territories, and Canada.

There is no additional charge for you to access these services.

Learn more here.

Invitae’s genetic counseling services are included in the cost of your test.

Yes. All patients undergoing testing with Invitae can call with on-demand questions.

Comprehensive genetic counseling sessions are currently available for patients located in the US, US territories and Canada who have undergone any Invitae genetic test except Invitae Personalized Cancer Monitoring^TM.

To learn more about the difference, please see the above FAQ "Does Invitae offer genetic counseling services?"

To reach a genetic counselor or schedule a session, please follow the instructions on this page.

Don't worry! Our friendly genetic counselors will explain all necessary terms when they talk with you. But if you'd like to read up ahead of your conversation, here are a few commonly used genetic terms:

DNA: deoxyribonucleic acid (DNA) is the material inside each of your cells that contains all the genetic information your body needs to function

Gene: a piece of DNA that instructs your body to make a certain product

Chromosome: a large piece of DNA that carries many genes

Variant: a change in the sequence of the DNA that may or may not affect the function of the gene(s) or product(s). Variants can be pathogenic, likely pathogenic, benign, or have unknown significance.

• Pathogenic: Pathogenic variants (sometimes called a mutation) are changes in your DNA that lead to a known health condition. If you have a pathogenic variant in your DNA, you will receive a positive test report.
• Likely pathogenic: Likely pathogenic variants (sometimes called a mutation) are changes in your DNA that are expected to lead to a known health condition. If you have a likely pathogenic variant in your DNA, you will receive a positive test report.
• Variant of unknown significance (VUS): A variant of unknown significance (VUS) is a change in your DNA that has an uncertain or unknown impact on your health. If you have a VUS, you do not necessarily have an increased risk of developing a certain health condition. Over time, the scientific and medical community will identify new evidence about each particular VUS and the classification of the variant may change from VUS to pathogenic, likely pathogenic, or benign. If a VUS in your sample is reclassified to pathogenic or likely pathogenic, Invitae will notify your clinician and issue an updated report.
• Benign: Benign variants are changes to the DNA that do not lead to known health conditions. DNA contains many, many variants and most are benign. Benign variants are not included in your test report and you will receive a negative test result if no other variants are identified.

Deletion or duplication: Deletions and duplications are large sections of DNA that are missing or extra. They can range in size from a small section within a gene to a large chunk containing multiple genes. Invitae’s tests include detection of deletions and duplications in most cases.

Genetic testing: the process of analyzing an individual’s DNA to look for variants in their genes that are associated with health conditions.

Genetic counseling: an appointment with a healthcare provider specifically trained in medical genetics to help individuals understand the process of genetic testing, what their genetic test results mean, and the implications for themselves and their family members.

Pedigree: a chart showing the family tree of an individual that can be used to analyze inheritance of a trait or health condition.

Proband: the first person in a family to receive genetic testing, usually the person in the family who has a health condition. A proband’s genetic test results often times has implications for their family members.

Inherited variant: a genetic variant that was passed down from a parent or ancestor.

De novo variant: a genetic variant that was not passed from a parent or ancestor, but arose new in an individual’s DNA.

Inheritance pattern: how a trait or a health condition is inherited through a family. This includes:

• Autosomal dominant: an individual with a single disease-causing (pathogenic or likely pathogenic) variant in a gene will be affected with or at risk for developing the disorder.
• Autosomal recessive: an individual with at least two disease-causing variants, one in each copy of a gene, will be affected by the disorder.
• X-linked: X-linked inheritance means that the gene associated with the disorder is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. Since males have only one X chromosome, pathogenic or likely pathogenic variants in genes on the X chromosome typically affect males more often than females.

Click here to view our full Glossary of terms.

If you choose to schedule a post-test genetic counseling session, your genetic counselor will briefly review your medical history, ask questions about your family members' medical history (that's important because genetics are inherited), and review information about your genetic test results and what those results may mean for you and your family.

Please set aside up to 30 minutes that will be free from interruptions. You may wish to ask your family members about your family medical history in advance (specifically, any diagnosed medical conditions, such as cancer or heart disease, and the age at which each medical condition was diagnosed). You may also wish to ask them about the cause of death/age of death for deceased family members. Please see this guide for additional tips about gathering your family history.

Yes. Invitae has access to interpreters who can provide services in over 200 languages.