Welcome to Invitae

At Invitae, we make genetic information more accessible to patients and healthcare providers by offering high-quality, affordable genetic testing.

We believe in the importance of understanding what your genetic information means for you and for your family members. That’s why we offer expert genetic counseling to patients.

Getting started

This online learning tool is intended to provide information about DNA and genetics, as well as genetic testing and genetic counseling services. It will also focus on the genetics of hereditary breast cancer and the role that family history and genetics play in your health.

online results This tool can be especially helpful for individuals who have a genetic counseling appointment scheduled with Invitae. To make the most of that personalized conversation, please take a few minutes before your genetic counseling appointment to read through this online learning tool.

If you don’t have time to completely review this tool, you can get started now and come back to it later.

If you have any questions that this online learning tool didn’t answer, please contact us.

What is genetic testing?

The basics of genetics and DNA

Our topic for today is genetic testing. Let’s start with a short video clip (about 2 minutes) that explains some of the terminology—including genes, DNA, and chromosomes—that will help you understand genetic testing.

Hereditary breast cancer

Now that you have some familiarity with genes and DNA, let’s talk a little more specifically about genetic testing for breast cancer.

This video clip explains more about some of the features that can be seen in families with hereditary breast and ovarian cancer syndrome (HBOC).

Beyond BRCA1 and BRCA2

As we have discussed, BRCA1 and BRCA2 are the most common genes known to increase the risk of breast cancer. But there are other genes that can also increase an individual’s risk of developing breast cancer—and other forms of cancer as well.

In addition to testing for BRCA1 and BRCA2, Invitae offers tests for other genes, including:


Which test is right for me?

ask your doctor Invitae’s genetic testing services allow your healthcare provider to select the right genetic test for you. In some cases, that will include only BRCA1 and BRCA2. In other cases, it may include include a broader range of genes in addition to BRCA1 and BRCA2. The test that is selected may depend upon your personal medical history and family health history.

For more information on selecting a genetic test, cost, and insurance coverage, visit Invitae’s patient website.

Family history

Knowing your family medical history is important.

At Invitae, we believe that capturing a complete and accurate family history is critical to selecting the correct test and interpreting genetic results. Please take a few moments to watch this short clip, which offers some tips for gathering information for your own family medical history.

Invitae’s family history tool

The Invitae Family History Tool makes it easy to map your family medical history. After you fill out a quick questionnaire, the Family History Tool will automatically generate a diagram of your family history (also called a pedigree).

family pedigree As you’ve learned, a pedigree is an important tool used by genetic counselors to better understand your cancer risks. If you are scheduled for a genetic counseling appointment with Invitae, you should have received an email with a link to a questionnaire about your family medical history. After you answer the questions, a pedigree will be automatically generated and sent to your Invitae genetic counselor.

Even if you don’t have a genetic counseling appointment scheduled, you can still use our free Family History Tool.

Genetic counseling at Invitae

At Invitae, we believe that your genetic information should be personalized—to you. That’s why we offer genetic counseling services to patients who are tested through our lab for cancer risk.

genetic counselor Genetic counseling sessions at Invitae are performed by telephone or video. Sessions typically take 30 to 40 minutes, during which time your genetic counselor will review:

  • your personal medical history
  • your family medical history
  • the genetic testing that your doctor has requested for you
  • the possible results that may come from genetic testing
  • insurance, costs, and logistics of genetic testing
  • other questions that you might have about genetic testing

If your genetic counseling session has already been scheduled, you should have received an email confirmation regarding the date and time of your appointment. If you haven’t received this information, please contact us.

How it works

The genetic testing process usually follows four steps.

Hover over each step to learn more:

talk with your doctor
genetic counselor
blood sample
connect tools

Possible test results

There are three possible results that you may receive when you undergo genetic testing.
Positive Negative Variant of uncertain significance
Note: The greater the number of genes tested, the greater the number of variants that may be identified.
Disease-causing variant identified No disease-causing variant identified A DNA variant is identified but it is currently unknown whether or not this variant causes an increased risk of cancer.
Your risk of developing cancer is elevated. Your cancer risk must be based on your personal and family medical history. Your cancer risk must be based on your personal and family medical history.
Your doctor may recommend: earlier and/or additional cancer surveillance, medications to reduce cancer risk, risk-reducing surgery, preventive measures, and lifestyle changes. Follow the cancer surveillance recommendations of your doctor. Follow the cancer surveillance recommendations of your doctor. Genetic testing for the variant may be offered to your family members, if appropriate.

Medical management

The impact of your genetic test results on your healthcare

Our understanding of cancer genetics is evolving rapidly, with new information being discovered very quickly. Some breast cancer genes—including BRCA1, BRCA2, TP53, and PTEN—have well-known cancer risks, with specific medical management recommendations detailed by the National Comprehensive Cancer Network. Other cancer predisposition genes may have less-established risks, and may lack published recommendations for cancer surveillance. In such situations, your healthcare provider may need to recommend cancer prevention and surveillance measures based on your personal medical history and family health history.

If you have an elevated risk of developing cancer based on your genetic test result, it is important that you work with your doctor to create a medical management plan focused on cancer prevention or early detection. The specific cancer surveillance and prevention measures that your doctor recommends will depend upon your personal medical history, family health history, and specific genetic test results.

Knowledge is power

Why is it important to know about your cancer risk?

Genetic testing can help you and your healthcare provider develop an appropriate medical management plan that is focused on cancer prevention or early detection. Genetic testing can also help clarify the cancer risks for other members of your family.

Knowing about an increased cancer risk can help you and your clinician address it. You might consider:

  • increased cancer surveillance
  • medications to prevent cancer (chemoprevention)
  • risk-reducing surgery
  • preventive measures and lifestyle changes


Let’s review what we’ve covered
  • Genetic testing determines whether a person carries specific genetic variants that cause predisposition to certain cancers.
  • Hereditary breast and ovarian cancer syndrome (HBOC) is caused by variations in the genes BRCA1 and BRCA2 and is the most common cause of hereditary breast and ovarian cancer.
  • More than a dozen other genes, some of which have been more recently discovered, can also influence your breast cancer risk.
  • Your family medical history is an important part of assessing your cancer risk. Invitae has an online tool to help you record your family history and share it with your genetic counselor.
  • Genetic counselors are specially trained healthcare providers who can help you better understand the genetic testing process as well as your genetic test results.
  • Invitae offers genetic counseling services to patients who are tested through our lab for cancer risk.
  • Knowing about an increased cancer risk can help you and your doctor address it with increased cancer surveillance or preventive measures.

Next steps

Are you interested in finding out if your family is at risk? Get started with Invitae’s online Family History Tool to capture a summary of your family health history.

next steps If you have already scheduled a genetic counseling session with an Invitae genetic counselor:

  • Talk with your genetic counselor during your session to determine if genetic testing is right for you.
  • If it is, your genetic counselor will help you through the process of genetic testing.
  • When your results are ready, review them with your genetic counselor and doctor to understand what they mean for you and your family.

If you don’t yet have a genetic counseling session scheduled and would like to learn more about our services, contact Invitae’s genetic counseling team:

Email us at GCServices@invitae.com, call 800-436-3037 or learn more.