Q&A with Julia Wilkinson, M.S., CGC, Invitae

How does Invitae work?

Because our testing gives you important health information, we require that a clinician reviews all orders to ensure that everyone is getting an appropriate test. Carrier screening can be ordered from Invitae in two ways: your healthcare provider can place an order or, if you live in the US, you can initiate a test for yourself online. If you initiate your own test, you will purchase your test online and complete a health history questionnaire. This information will be reviewed by an independent clinician to approve your test order.

Even if you initiate a carrier screen online, we believe it’s important to integrate this information back into your medical care. When you receive your results, you will be able to share them directly with your healthcare provider through our online portal. You can also speak with one of our genetic counselors about your results and next steps.

How can Invitae help me if I’m thinking about getting pregnant?

Invitae’s carrier screening gives you valuable information that allows you to make the most informed decisions during family planning, pregnancy, and beyond. Carrier screening is a type of genetic test that looks at changes in both your and your partner’s DNA that are linked to certain genetic conditions that you could pass down to your future child. Keep in mind, most parents wouldn’t know that they have these changes in their DNA. In fact, 80% of babies born with a genetic condition are born to parents who have no personal or family history of the condition. Invitae carrier screening can be done during the family planning process, like taking a prenatal vitamin or ovulation test, or during the first trimester of pregnancy.

What does Invitae look for? What will it show? Ancestry information? Diseases? Likelihood of diseases?

Invitae carrier screening is a type of genetic test that looks at changes (called variants) in your and your partner’s DNA that you could pass down to your future child. This test looks at changes in your DNA that are linked to over 200 genetic conditions like Tay-Sachs disease, cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. In most cases, both you and your partner must be carriers of the same disorder for your child to have an increased risk of being affected. If you are carriers of the same disorder, there is a 1 in 4 (or 25%) chance that the child will be affected by a condition. Carriers usually don’t have any signs or symptoms of the genetic condition; the child will typically only be affected if both partners pass on the variant to the child. Undergoing carrier screening allows you to make the most informed choices throughout your family planning and pregnancy journey.

Can Invitae work for children too? Or only test on adults?

Invitae offers a different type of testing — pediatric diagnostic testing — for children who are showing signs or symptoms of a condition that could be genetic. It’s important to note that carrier screening is a different type of test meant to help parents understand their child’s risk of inheriting a genetic condition. Carrier screening should be used for adults (over 18 years old) who are planning to start or grow their family or in their first trimester of pregnancy.

How is Invitae different from 23andme?

There are a wide variety of genetic testing services used by both consumers and clinicians, for both recreational and health purposes. Many recreational, direct-to-consumer tests include services providing information on ancestry or lifestyle questions, and may also offer limited health reports using a technology called genotyping to look at known “hotspots” in your DNA. Medical genetic tests — or tests used by doctors and clinicians that can be used to make health decisions — take a much more comprehensive look at your genes using a technology called next generation sequencing.  For example, Invitae looks at more than 10 genes linked to inherited risk of breast cancer—not just BRCA1 and BRCA2. And because Invitae’s test is medical-quality, you can make health decisions based on your results.

How do you test my genes? Is it painful?

The process is extremely simple! If you’re interested in clinical genetic testing, you can speak with your healthcare provider about ordering a test or go online to order a test from home at Invitae.com, and a clinician will review your order. You can either use a saliva sample from home or given at your doctor’s office, or a blood sample, which can be done at a doctor’s office.

If I have a family history of certain birth defects, can Invitae catch that?

Carrier screening looks at changes in your and your partner’s DNA that you could pass down to your future child. Some of these conditions include Tay-Sachs, cystic fibrosis, spinal muscular atrophy, or fragile X syndrome. In most cases, if both you and your partner are carriers of the same disorder, there is a 1 in 4 (or 25%) chance that the child will be affected by a condition. Undergoing carrier screening allows you to make the most informed choices throughout your family planning and pregnancy journey. That said, all pregnancies have a risk of birth defects, regardless of screening results.

If you have a family history of certain birth defects that are known to have a specific genetic cause, then carrier screening may potentially be available for that particular gene. More information about the genes that are tested for is available on Invitae’s website (www.invitae.com).

How accurate is your testing?

Our carrier screen looks at genetic variants (or changes) for the entire gene, using a technique called full gene sequencing with deletion and duplication analysis. This leads to a 99% detection rate for most genes. We only report variants that are scientifically linked to an increased risk of a genetic disorder.

It’s important to know that no test can detect all possible carriers, so even after a negative carrier screening report, there is still a small chance that you are a carrier. This is called “residual risk”. Your test report will list your residual risks for each of the disorders tested.

How long does it take to get answers back from Invitae?

Results are ready in about 10-21 days on average. Invitae will send you an email and a text message when your results are ready to review on Invitae’s secure online portal.

Will I speak to a genetic counselor to help me make sense of my results?

Yes! You can share your report with your doctor directly from your Invitae portal so you can  develop an actionable health plan based on your genetic test results. If you have any questions about your results, you can also speak with one of Invitae’s genetic counselors by phone at no additional charge to answer any questions you may have.