diagnostic-dna-test

Invitae review – Bringing genetics into mainstream medicine?

Rating based on our Invitae review

7 facts from our Invitae review

  1. Location: San Francisco, CA, USA
  2. Products: sequencing of gene panels and whole exomes (ordered by patients or providers)
  3. Reports: diagnostics, proactive health, and reproductive health
  4. Data access: no
  5. Privacy: shares anonymized, aggregated data
  6. Cost: $0-$250; some tests covered by insurance
  7. Alternatives: Nebula Genomics (Whole Genome Sequencing that can be used in consultation with your healthcare provider)

Introduction 

Invitae is a leading medical genetics company based in San Francisco-based. Dr. Sean George is the current Chief Executive Officer of Invitae. The company’s goal is to bring “genetic information into mainstream medicine.” The company offers a wide array of diagnostic tests for cancer, heart disease, reproductive health, and rare disorders. These tests can be ordered by a patient or by a clinician on a patient’s behalf. Invitae also offers medical professionals access to special tools, such as the Invitae family history tool, in which clinicians can digitally record patient family history to help recommend genetic testing. To date, the company has provided its Invitae genetic testing services to more than half a million individuals. Invitae corporation has the NYSE NVTA ticker. Learn more in our Invitae review!

Are you interested in a test that decodes 100% of your DNA instead of testing only a few genes? Nebula Genomics offers the most affordable Whole Genome Sequencing! This is the most complete DNA test that decodes all 20,000 genes and all regulatory genomic regions. In comparison, Invitae sequences just a few genes at a much higher price. Click here to learn more!

The Science Behind Invitae’s Products

Invitae testing offers assays for sequencing single genes, panels of genes, and exomes. 

Full-gene sequencing: This is a targeted next-generation sequencing-based test in which clinically important regions of a gene are sequenced at 350X coverage. These important regions include the parts of the gene that code for a protein, called exons. In addition, Invitae typically sequences 10 to 20 base pairs flanking the exons (i.e. within introns). 

Exome analysis: Invitae “Boosted Exome” test that allows one to capture all coding variants within ~20,000 coding genes across the entire genome. This test is available for affected individuals and their biological parents. 

Comparison of gene panel, whole-exome, and whole-genome sequencing.
Comparison of gene panel, whole-exome, and whole-genome sequencing. Credit: LabRoots

The major limitation of these assays is that they do not capture genetic variants within the non-coding regions of the genome (that are captured by whole-genome sequencing), which are known to play regulatory roles and may be associated with the risk of developing particular health conditions. Read more about different DNA tests.

Review of Invitae Genetic Testing Products

Invitae has three types of tests that can be ordered by individuals online. Customers receive a saliva collection kit in the mail. Diagnostic tests are performed in CLIA- and CAP-accredited labs. Test results will be reviewed by a team of scientists, lab directors, and genetic counselors to ensure high quality. Moreover, healthcare providers can also order most of these tests for their patients through a HIPAA-compliant online portal, allowing genetic information to help guide how they care for their patients. All of the Invitae forms for requisition and consent are publicly available on the company website. Healthcare providers can also add additional genes to existing gene panels when ordering for patients. Patients use their Invitae login to access their accounts and their test results.

Turnaround time begins once the lab receives the sample. The turnaround time for most tests is around 10 – 21 days. Certain breast cancer panels only take an average of 7 days while the Boosted Exome test results take about 6-8 weeks to be returned to the customer.

Review of Invitae Diagnostic Tests

Invitae offers diagnostic genetic testing for a number of different hereditary conditions, including Invitae common hereditary cancers and Invitae epilepsy panels. These tests are appropriate for individuals that have a personal or family history of cancer, heart disease, neurological conditions, rare diseases, and pediatric conditions. These tests may be covered by insurance. Patients who order themselves can use a cost estimator when ordering to estimate how much they are expected to pay out of pocket. Final costs may vary based upon certain health plan design, deductible, co-insurance, and out-of-pocket limits. The company supports its mission to help make quality genetic testing affordable and accessible with its financial assistance program available to patients who meet certain criteria. They also offer patient pre-pay option of $250. According to the company, individuals typically pay between $0 and $100 out of pocket. 

Hereditary condition diagnostic tests offered by Invitae to individuals.
Hereditary condition diagnostic tests offered by Invitae to individuals. 

Providers can order from an even larger array of diagnostic tests. These tests include the Invitae Breast Cancer STAT panel, the Invitae Comprehensive Carrier Screen, Invitae Aortopathy Comprehensive panel, Invitae Epilepsy panel, and Invitae Common Hereditary Cancers Panel, Invitae Breast Cancer.

Hereditary condition diagnostic test panels offered to healthcare providers.
Hereditary condition diagnostic test panels offered to healthcare providers. 
Sample Invitae cancer panel report.
Sample Invitae cancer panel report.

Review of Proactive Tests

Invitae offers proactive genetic testing to healthy individuals that do not have a known family history of genetic conditions. This allows individuals to identify their risk of developing a particular disease in the long term. The company thinks this is important because its research has suggested that ~15% of healthy adults carry a potentially serious health-related genetic risk. 

Invitae offers three such proactive screening tests. These tests are not covered by health insurance.

Invitae Cancer Screen ($250). This screen analyzes 61 genes associated with the risk of developing an inherited form of cancer. 

Invitae Cardio Screen ($250). This screen analyzes 77 genes associated with the risk of developing an inherited form of cardiovascular disease.

Invitae Genetic Health Screen ($350). This screen analyzes 147 genes associated with the risk of developing an inherited form of cancer, cardiovascular disease, and a number of other diseases. This test is available to both Americans and Canadians.

Comparison of proactive genetic tests offered by Invitae.
Comparison of proactive genetic tests offered by Invitae. 

Review of Reproductive Tests

Invitae launched reproductive genetic testing for patients before, during, and after pregnancy. These tests include:

Invitae Carrier Screening ($250). Before or during pregnancy, couples in the United States and Canada can obtain information about if their child is at risk of inheriting a genetic disease. 

A carrier is an individual that has a variant in one copy of a gene that is associated with a disease, which can be passed down to a child. Invitae offers testing for up to 288 carrier disorders. For example, this test can detect muscular dystrophy among other conditions. Most testing is done for disorders that are autosomal recessive, which are disorders that require both parents to be carriers for the same disorder. Some testing is done for X-linked disorders, meaning that the gene associated with the disorder is located on the X chromosome. 

*Non-Invasive Prenatal Screening (NIPS). This test analyzes small fragments of DNA, otherwise known as cell-free DNA, that are circulating in the blood to screen for common genetic disorders, such as Down Syndrome, Edwards Syndrome, and Patau Syndrome, that result from additional or missing pieces of genetic material in a child’s genome, called chromosomes. NIPs can be performed as early as 10 weeks into a pregnancy. 

*Prenatal Diagnostic Testing. Invitae offers two microarray-based tests, one that identifies genetic variants across the whole genome and one that is targeting genetic variants in selected genes with known clinical significance. This service is useful to confirm a positive or negative NIPS result. It can only be performed during pregnancy. 

*Preimplantation Genetic Testing (PGT). This test can help identify viable embryos for transfer during in vitro fertilization (IVF). 

*Pregnancy Loss. Invitae offers a chromosomal microarray analysis (CMA) for pregnancy loss, in which very small deletions or duplications of DNA sequences can be detected. This can allow individuals to potentially uncover the cause of recurrent miscarriage or stillbirth. 

*These tests can only be ordered by a healthcare provider and may be covered by insurance. 

Genetic Counseling Services

Genetic testing can be stressful and confusing. In general, tested individuals do not have direct access to healthcare professionals trained in genetics and counseling that can help explain what their test results mean for themselves and their family members. Invitae has an extensive list of genetic counseling resources on its website. Customers can speak with a board-certified genetic counselor by phone after they have received their testing results at no additional cost. 

Reimbursements

Invitae accepts insurance from most health plans. The process is intended to be simple as the company works directly with the insurance companies to coordinate payment, otherwise known as filing a claim to insurers, and this usually results in patients paying $0 to $100 out of pocket. Most insurance companies will cover tests ordered by a physician for diagnostic purposes. For example, tests to determine if a hereditary condition could be passed to future children, understand the genetic cause of unexplained symptoms, or to better understand an inherited disease. 

Some Invitae customers, as well as customers of other clinical genetic testing services, have discussed getting “hit with surprising bills.” This happens because different insurance companies choose to reimburse different genetic tests and sometimes may only cover part of a test. Other insurance companies may not reimburse a test at all if they don’t deem it “medically necessary.”

Invitae also launched a sponsored testing program for patients that are affected by select genetic conditions.

Review of Invitae Privacy Policy

Invitae strips personal identifiers, such as name and date of birth, from customers’ data. With this, the company reserves the right to share anonymized or aggregated data with third parties. The company also shares personal information, not genetic data, with service providers, business partners, and third parties. However, every 6 months, the company does share information about genetic variants discovered from collected data with a third party database of genetic variants, ClinVar, which is managed by the National Center for Biotechnology Information and National Institutes of Health. This policy was put in place because the American College of Medical Genetics (ACMG) highlighted the importance of sharing clinical genomic data to improve health care. 

Invitae in the News

Invitae news has been both supportive and critical. In 2019, Invitae presented a study at the American College of Medical Genetics and Genomics annual meeting highlighting a problem with consumer genetic tests called the “clinical false-negative result.” Specifically, the study outlined that the many individuals who had undergone BRCA1 and BRCA2 genetic testing for breast and ovarian cancer risk by 23andMe were wrongly given negative results. This is because of 23andMe genotypes only three genetic variants, known as founder mutations, within BRCA1 and BRCA2, whereas Invitae uses sequences the entire BRCA genes. Therefore, after testing 100,000 individuals, Invitae determined that 5% of these individuals had BRCA mutations known to increase the risk of developing breast or ovarian cancer. Among these individuals who tested positive, Invitae determined 94% of non-Ashkenazi Jewish individuals and 19% of Ashkenazi Jewish individuals harbored mutations that would have been missed by the 23andMe test. 

Invitae has also been scrutinized. A genetic counselor discovered that the Invitae test missed a case of Lynch syndrome, which increases the risk of developing several types of cancers. When the patient was re-tested 11 months later, he or she tested positive. This led the company having to retest over 50,000 samples and implement additional quality measures to ensure fewer testing errors.

Recently Invitae acquired three companies: YouScript, Genelex, and Diploid.

In a conference call at the fourth quarter of 2019, Invitae announced that it has processed 482,000 samples in 2019.

Invitae regularly participates in the Annual J.P. Morgan Healthcare Conference where it presents news.

Invitae Reviews

Invitae Pros/Cons

Pros

  • One of the first clinical genetic testing companies.
  • A large collection of single-gene tests.
  • Access to genetic counselors, supporting an informed customer experience.
  • Health insurance can cover the costs of some tests.

Cons

  • More expensive than other genetic tests on the market.  
  • No differentiated scientific qualities. 

Nebula Genomics

In this final part of our Invitae review, we will compare it to Nebula Genomics.

Nebula Genomics offers a 30x Whole-Genome Sequencing service that decodes 100% of your DNA. In contrast, Invitae and other clinical laboratory-based genetic tests cost hundreds of dollars to test a single gene. Although Nebula Genomics is not a diagnostic test, our 30x whole-genome sequencing data is produced in CLIA/CAP-accredited laboratories and thus can be used by healthcare providers and genetic counselors. Ultimately, if an individual has a known family history of a genetic disorder, we recommend consulting a healthcare provider first.

Here is how Nebula Genomics compares with Invitae’s genetic tests.

 InvitaeNebula Genomics
DNA testing methodFull-gene sequencing (covers clinically important regions of a single gene) Whole-Genome Sequencing (all genes in the genome as well as non-coding regions in between genes)
Average Coverage350X (single-gene)30X (whole genome)
Weekly updates based on the latest discoveriesNoYes (learn more)
Tools to explore dataNoYes (learn more)
Ancestry reportingNoDeep ancestry reporting with full Y chromosome and mtDNA sequencing in collaboration with FTDNA
Data accessNoYes (FASTQ, BAM and VCF files)
Cost$250 or $350 (patient purchase per test)$0 – $299
Diagnostic 
YesNo, but the data is generated in CLIA-certified labs.

Invitae vs Nebula Genomics

If you’re interested in learning about how your genetics may influence hereditary conditions, you may also be interested in these alternative clinical genetic testing companies:

Other DNA tests that use exome sequencing include:

Did you like our Invitae review? Read more reviews on our blog and check out our complete guide to the best DNA test kit and other home tests.

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