FAQs: Results

Once Invitae receives your sample, on average your healthcare provider will receive the results in:

• Diagnostic panel testing: 10-21 calendar days
• STAT panel testing: 5-12 calendar days (7 days on average)
• Proactive testing (including the cancer and cardio screen): 10-21 calendar days
• Exome testing: 6-8 weeks on average

Our online portal makes it easy for you to know exactly where your sample is in the testing process. You can also see your results online once your doctor has reviewed and released them. Access the Invitae online portal here.

Healthcare professionals are fundamental to interpreting genetic information. We encourage you to discuss your results with your healthcare provider. In many cases, our testing also includes consultation with a genetics expert. Learn more here.

For information on the potential results from Invitae testing, please see the descriptions below.

Diagnostic tests

Hereditary cancer

Positive

A positive result means your test found a variant that has been known to cause cancer in the genes tested.

If you do not have cancer, a positive result does not mean you have cancer; however,it does mean that you are at increased risk for developing cancer in the future.

Work with your healthcare provider to:

• understand your results and what they mean for you and your family
• learn about options for treatment, or ways to reduce your risk
• identify at risk family members who may also benefit from genetic testing

Negative

A negative result means you do not carry a variant (change) for the genes tested, and your test does not show that you are at increased risk for developing a hereditary cancer associated with those genes.

If you have been diagnosed with cancer, your diagnosis is not known to be caused by the genes tested.

Your overall risk of cancer may still be influenced by your medical history, family history, and the environment, so it’s important to talk to your healthcare provider to learn more about your results and what they mean for you.

VUS (variant of uncertain significance)

A VUS result occurs when a genetic variant (or change) was identified, but there is not enough medical research available to know whether that change increases your risk of developing hereditary cancer.

In some cases, your healthcare provider may recommend additional testing. Your doctor will be updated as new clinically relevant information about this VUS becomes available through future research.

VUS results are relatively common and should not be used to make health decisions.

Hereditary heart disease

Positive

A positive result means your test found a variant that has been known to cause heart disease in the genes tested. Work with your healthcare provider to:

• understand your results and what they mean for you and your family
• learn about treatment options and ways to reduce your risk
• identify at risk family members who may also benefit from genetic testing

Negative

A negative result means you do not carry a variant (change) in the genes tested, and your test does not show that you are at increased risk for developing a hereditary heart condition associated with those genes.

If you have been diagnosed with a heart condition, your diagnosis is not known to be caused by the genes tested.

While your genes are an important piece of your overall health, environmental factors, other medical conditions, and lifestyle also contribute to heart disease. Work with your healthcare provider to create an appropriate healthcare plan for you.

VUS (variant of uncertain significance)

A VUS result is found when a genetic variant (or change) was identified, but there is not enough medical research available to know whether that change increases your risk of developing heart disease.

Your healthcare provider may recommend additional testing for you or your family members. Your doctor will be updated as new clinically-relevant information about this VUS becomes available through future research.

VUS results are relatively common and should not be used to make health decisions.

Proactive tests

Cancer, cardio, or genetic health screenings

Positive

A positive result means that your test found a genetic variant (or change) that increases your risk for developing an associated disease. This is not a diagnosis and does not mean that you will definitely develop that disease.

Talk to your doctor to:

• understand your results and what they mean for you and your family
• learn about options to reduce your risk
• identify at-risk family members who may also benefit from genetic testing

Negative

A negative result means your test did not find potentially harmful genetic variants (or changes). You are not at increased risk for developing a disease associated with the genes tested.

Your genes are an important piece of your overall health, but other factors, like lifestyle, also play a part. Just because you get a negative test result does not mean that you could never get a disease. Use the information from your test to inform your overall health and wellness plan with the help of your doctor.

Don’t see your test listed here?

Please talk to your healthcare provider to better understand the possible results. Genetic test results for certain clinical areas including rare diseases, neurological conditions, pediatrics, and preimplantation genetic testing vary widely due to the broad range of genes and disorders tested.

Genetic test results can have implications not only for an individual, but for an entire family. If you receive a positive result, your blood relatives may also benefit from testing. We've designed a few templates to help you inform your family members about your test results and help them take the next steps. Click a link to download a template.

Cancer

Family letter: General hereditary cancer

Family letter: BRCA1/BRCA2

Family letter: Lynch syndrome

Cardiology

Family letter: General inherited cardiovascular condition

Family letter: Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Family letter: Familial thoracic aortic aneurysm and/or dissection (TAAD)

Family letter: Long QT syndrome (LQTS)

Family letter: Hypertrophic cardiomyopathy (HCM)

Family letter: Familial hypercholesterolemia (FH)

Family letter: Dilated cardiomyopathy (DCM)

Learn more about Invitae's family testing options here.

In order to help resolve variants of uncertain significance (VUS) in our panel test results, Invitae offers follow-up testing to selected family members of patients previously tested at Invitae, at no additional charge. This service is available when testing additional family members may clarify the disease-variant relationship. The goal is to better understand the clinical impact of the variant and, when possible, to decrease the uncertainty of the original test result. Ask your healthcare provider to contact Invitae if VUS resolution was recommended on your test report. For additional information about Invitae's VUS resolution program, please see our VUS resolution page.

You can download your personal data to keep or repurpose it as you choose. Genetic testing data can be downloaded as a .BAM file, a format designed specifically for genetic data, which can only be read using special software typically used by genetic researchers. Please note: .BAM files are not readable in Microsoft Excel, .PDF or other non-specialty software.

To request a download of your Invitae genetic testing data, email clientservices@invitae.com or call 800-436-3037.

You can set or change your preferences around data sharing through your Invitae patient portal. Sign in to your account by clicking here or from our website. Once you’re in your portal, go to the “My Account” link on the top right corner of the page. That will display a drop-down menu. Click “Preferences.” That takes you to the page where you can set or change your preferences for data sharing.

Invitae takes measures to help keep patient data safe and secure. These include:

1. Limiting the use of data to only permitted purposes
2. Using technical, administrative and physical safeguards to secure patient data and protect it against misuse, loss or alteration
3. Ensuring patient data used has been de-identified or anonymized under applicable laws

Invitae has a well-defined process for evaluating all internal and external requests for access to patient data.

Education
We train all team members who may interact with patient data about our patient data-focused principles, internal policies and protocols.

Application—Internal Use
Team members who need to use data for secondary purposes, such as a new research project, submit a form to request the use of data. The form requires a detailed description of the data that will be used and analyzed and for what purpose. The document also outlines privacy protections and de-identification procedures.

Application—External Use
Invitae’s Medical Affairs team evaluates all data requests by external researchers to assess the scientific merits of the request. For those requests deemed scientifically valid, a Medical Affairs team member submits a request form, which includes details about the data to be used, analytical methods, privacy, security and data integrity protections.

Additional Review—Data Use Committee
After the data use request form is submitted, the team member who applied for data use presents their intended use case to the Invitae Data Use Committee (DUC). The DUC is a multidisciplinary group of Invitae team members, which includes privacy experts, patient data advocates, product managers, legal counsel and a member of the corporate executive team. The committee can review the request, ask questions, raise issues or voice perspectives that need consideration. If the committee requests additional steps or information, the requestor will re-submit the application and bring it back to the committee for review. If the application is accepted, the requestor is granted the use of the data for the project.