Invitae, with its headquarters set in San Francisco, California, is a medical genetics company founded by Randal W. Scott and Sean E. George in 2010. Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory.
The company offers gene panels and single-gene testing for a broad range of clinical areas, including hereditary cancer, cardiology, neurology, pediatric genetics, metabolic disorders, immunology, and hematology.
Invitae has special tools for medical professionals that help them record family history and provide appropriate genetic testing recommendations.
Overview of Invitae Services
Invitae For Individuals
Image: Invitae Test Categories
Invitae offers 4 categories of tests for its users:
Provides information relevant to pre-pregnancy and pregnancy-related decision-making.
It includes the following tests:
- Carrier screening
- Preimplantation genetic testing
- Non-invasive prenatal screening
- Prenatal diagnostic testing
Provides information to develop a personalized health plan for cancer and heart disease.
It includes the following tests:
- Cancer screen
- Cardio screen
- Genetic health screen
You can order any or all of these tests.
Image: Tests in Staying Healthy package
Provides information to help your physician plan an effective treatment.
It includes the following tests:
- Ovarian, uterine, and endometrial
- Renal cell
Provides information that helps diagnose and understand the inheritance of various health conditions.
It includes a variety of health conditions grouped under:
- Heart disease
- Neurological issues
- Rare disease
- Pediatric conditions
Image: Genetic illness traits
Invitae For Professionals
Invitae offers a bunch of tests for medical professionals, grouped under the following categories:
Provides genetic information that can help professionals tailor chemotherapy and other treatment plans for their patients.
It covers multiple panels, including:
- Multi-Cancer Panel
- Common Hereditary Cancers Panel
- BRCA1 and BRCA2 STAT Panel
- Breast Cancer STAT Panel
- Breast and Gyn Cancers Panel
- Colorectal Cancer Panel
- Renal/Urinary Tract Cancers Panel
- Prostate Cancer Panel
- Nervous System/Brain Cancer Panel
You can view the entire list here.
Provides information that helps medical professionals give insights regarding pre-pregnancy, infertility, and other pregnancy issues.
The tests are grouped under 3 packages:
- Pre-pregnancy package
- Early pregnancy package
- Infertility or pregnancy loss package
Invitae also offers an RNA-testing feature, which incorporates testing into the variant classification process for variants of uncertain significance (VUS). A VUS is a genetic change in a sequence whose association with disease risk is unclear.
Invitae also offers exome testing options that provide more accurate and reliable results. Exons are a segment of a DNA or RNA molecule containing information coding for the protein. The exome is the part of the genome that consists of exons. It is estimated that the vast majority of disease-causing DNA changes are found in exons.
It includes the following testing options:
- Invitae exome, proband-only
- Invitae exome, duo
- Invitae exome, trio
Invitae: How To Order?
Users can choose any test from the options provided and place an order. Once you order, an independent physician will review your health history and approve the test, if appropriate.
Once your doctor approves the test, you can sign up with/sign in to your account.
Once your email is verified, you can register a kit using the confirmation code.
Invitae Kit Registration
You can learn about specimen collection and shipping here.
Overview of Invitae Reports
Invitae Genetic Illness Report
The diagnostic tests under this category may be covered by insurance.
The report begins with a section that has information on patient and sample collection details (same for all reports).
If it is a "positive result," the next section contains information about the pathogenic variant identified.
Image: Snippet from Invitae sample diagnostic report
The next section of the report helps users with the next steps after encountering a positive result.
The website also has a "Positive Result FAQ" guide.
Image: Invitae positive result FAQ
Invitae Pregnancy Report
Invitae Carrier Screening
A carrier is an individual that carries one copy of a gene with error(s) associated with a disease, which can be passed down to a child.
If it is a positive result, the report includes information about the variant and the mode of inheritance.
Image: Snippet from Invitae sample carrier screening report
The report also comes with information about the condition and the recommended next steps.
It gives insights into what you can do if your partner tests positive for the same condition.
Invitae Non-invasive prenatal testing
This test covers common genetic disorders, like Down Syndrome, that result from additional or missing pieces of genetic material in the genome.
The report identifies aneuploidies (if present) in chromosomes 13, 18, 21, and sex chromosomes.
Aneuploidy is the presence of an abnormal number of chromosomes.
It is followed by the "next steps" section.
Image: Snippet from Invitae NIPT report
The report ends with the "Limitations" and "Disclaimer" sections.
Invitae Preimplantation Genetic Testing
This test can help identify viable embryos for transfer during in vitro fertilization (IVF).
The report begins with a "Results Summary" section that flags the normal and the abnormal embryos.
The subsequent sections explain the results in detail, including information on biopsy date, error identified, and sex. Users can opt-out of knowing the gender of their baby.
This is followed by a glossary section with definitions of terms used in preimplantation genetic testing results.
Invitae Prenatal Diagnostic Test
Two types of tests are offered under this - one analyzes the whole genome, and the other analyzes specific genes of interest.
Image: Snippet from Invitae PIGD report
Invitae Pregnancy Loss and Infertility Test
The report helps to identify whether a pregnancy loss (miscarriage or intrauterine demise) is due to any chromosomal abnormality.
- Submicroscopic additions and deletions
- Size and gene content of copy number variations (CNVs)
- Regions of homozygosity, which may suggest shared ancestry and an increased risk for autosomal recessive disorders
- Uniparental isodisomy
- Triploidy and complete molar pregnancies
Invitae Proactive/Staying Healthy Test
Cancer Screen: The report includes information on 61 genes associated with common cancers like breast, ovarian, and prostate cancer.
Cardio Screen: This test looks at 75+ genes known to influence the risk of many inherited heart diseases like hereditary high cholesterol levels.
Genetic Health Screen: The report provides information on over 145 genes associated with many inherited conditions.
Image: Comparison of the tests in Invitae Proactive/Staying Healthy Pack
|Invitae Cancer Screen||$250|
|Invitae Cardio Screen||$250|
|Invitae Genetic Health Screen||$350|
|Invitae Comprehensive Carrier Screen||$250|
Many of the invitae diagnostic tests may be covered by insurance.
The company also offers Medicare and Medicaid beneficiaries for patients residing in the US if they meet the eligibility criteria.
Invitae offers testing at little or no expense for patients who qualify through their Patient Assistance Program.
Invitae also offers sponsored testing, partnering with biopharma companies like Alnylam to provide genetic testing for selective genetic diseases for patients who meet eligibility criteria.
About Invitae Privacy
The company claims that they do not sell or share users’ identifiable data with any third parties. However, they share information about genetic variants and anonymized genetic information with service providers, business partners, and third-party or public databases for research purposes. In addition, Invitae allows users to alter their privacy settings manually.
Invitae - News and Reviews
- According to people familiar with the matter, Exact Sciences Corp, a genetic testing company backed by Cathie Wood’s Ark Investment, has approached Invitae about a possible merger.
- Volpara collaborates with Invitae to expand access to Genetic Testing and Risk Assessment Capabilities.
- Invitae opens early access to liquid biopsy-based personalized cancer monitoring as a central laboratory service.
Summary: Pros and Cons of Invitae
- Established clinical genetic testing company
- Accessible to everyone.
- Cost-effective as services may have health insurance coverage
- Provides free counseling for patients
- Invitae does not provide insurance for proactive type tests
- Access to raw data is unavailable, so can’t cross-check the results with other DNA analysis services
- Does not accept data from other genetic testing providers
|DNA kit||Provided||Not provided|
|DNA raw data upload||Not allowed||Allowed|
|DNA data exploration tools||Not available||Available|
|Report price||$250 or $350||Individual reports: $30 - $50|
Bundle packs: $160 - $199
|Diagnostic||Yes||No, but the reports are a powerful tool that physicians can use for making health recommendations.|
|Report categories||Hereditary cancer, Cardiology, Neurology, Pediatric Genetics, Metabolic disorders, Immunology, and Hematology||Nutrition, Fitness, Skin, Allergy, Health, Personality, Breast Cancer, MTHFR, Personalized Medicine, Sleep, Genetic Reports|