Invitae Review: Genetic testing for everyone?

Overview

1. Products: Specialized reports which use genetic data to aid medical professionals in patient diagnosis, help individuals understand their medical future, or help them through pregnancy.
2. Cost: $250-350 for proactive tests depending on the extent of assessment. Diagnostic and reproductive test costs are intended to be covered by health insurance providers.
3. Reports: Information included in Invitae’s reports varies based on the type and specificity of the test. Invitae provides post-test, genetic counseling to help users understand the implications of their genetic analysis.
4. Raw Data Access: Invitae does not provide its clients with access to their raw genetic data information. Rather, the user’s data is interpreted and exclusively used to generate the results of the specific test which has been ordered.
5. Privacy: Invitae makes clear that they do not sell nor share users’ identifiable data with any third parties. They do share anonymized genetic information with public databases for research purposes and allow their users to manually alter their privacy settings.
6. Alternatives: SelfDecode analyzes up to 83 million genetic variants and gives personalized diet, lifestyle, and supplement recommendations based on DNA and labs.

Pros

• Invitae works directly with insurance providers to overcome financial barriers that their clients may have.
• Their programs are set-up for use by healthcare professionals as well as individuals, which allows for hybridity.
• Invitae genetic tests have the potential to be very specific which means they can provide an extensive level of detail concerning a particular gene. Invitae’s ‘boosted exome’ testing also provides a highly exhaustive genetic examination.

Cons

• Invitae users without reliable health insurance or a dependable long term doctor might have trouble accessing all of Invitae’s services or interpreting the results of their test(s).
• Without the raw genetic data produced by their tests, users are not able to cross-reference the results of their tests with another DNA analysis service.
• Invitae does not accept DNA files obtained from other genetics testing services. This means users who have already had their DNA tested will have to pay for a separate kit.
• The company does not support insurance billing for what they call, ‘proactive’ type tests. Accordingly, users looking to understand their genetic predispositions and their general medical status will end up paying the full price.
• Invitae invites users to create a proactive plan based on their results, either with their healthcare professional or with a genetic counselor. However, they do not provide any actionable nor specific recommendations along with their reports. Users must voluntarily reach out to a counselor if they wish to address potential health risks.

About Invitae Genetics

Invitae was started as a subsidiary of Genomic Health, a genetics research company focused on cancer prevention, in 2010. Genomic Health was founded in 2000 by Randy Scott, former CEO of pharmaceutical giant Incyte. Invitae itself was co-founded by current CEO Sean George.

Invitae’s landmark goal is to make genetic testing and analysis more accessible to everyone, which is evident in how closely they integrate their processes with the day-to-day practices of medical professionals. As part of this mission, they also partner with advocacy groups and not-for-profit organizations to offer additional resources to clients at minimal cost.

Earlier in 2020, Invitae combined with Archer DX, a genomics analysis company that specializes in oncology, furthering their specialization in cancer research.

Overview of Invitae Genetic Testing

Invitae provides testing within three main categories of specificity for both individuals and healthcare providers:

• Diagnostic Tests, which seek to diagnose hereditary diseases in patients.
• Reproductive Tests, geared towards individuals who are making critical decisions about pregnancy.
• Proactive Tests, which provide more general genetic information that can help users understand their risk for potential conditions.

Within the realm of Diagnostic tests that can be ordered by healthcare providers, Invitae also offers something called ‘boosted exome’ testing. This is a type of testing that takes the genetic information of the patient along with, optionally, the data from one or both of the patient’s biological parents, and then analyzes the patient’s entire exome.

This test can provide further genetic information that is hyper-specific to the patient and is meant to identify genetic variations that are of medical significance but diagnostically evasive.

Review of Invitae Reports

As a general rule, Invitae genetic reports are fairly succinct because the tests are particular to a condition, set of mutations, or even an isolated gene.

For example, below is the single-page report provided for a female chromosomal analysis which is one of Invitae’s reproductive type tests. The report shows the identification of merely one genetic variation, and the interpretation offered is relatively complicated to understand without the help of a medical professional. The report also doesn’t provide any actionable conclusions.

To help with the interpretation of the results, Invitae offer assistance to their users in the form of genetic counseling following the results of any given genetic test. They also give clients multiple avenues to connect and communicate with counselors as shown below.

Following the independent, post-test counseling session, however,  Invitae refrains from offering continued actionable information to users. Further, counseling sessions beyond the initial advising appointment may require users to pay additional fees.

In addition to offering support by way of genetic counseling, Invitae has a variety of versatile guides meant to help its users understand and interpret the consequences of a particular mutation whether it be the positive or negative expression of a gene.

The guides are automatically attached to the relevant portions of a users’ report and cite peer-reviewed medical research to support their conclusions. Here is an example of a guide for understanding the positive expression of the BRCA1 gene.

On top of the results guides, users can access a larger database of information on the Invitae website that explores the consequences of the positive expression of any given gene. Below is a portion of the genes for which Invitae provides guides.

While this does represent a range of genetic analysis within Invitae’s testing, the health topics which Invitae provides reports on are mainly limited to cancer and cardiology. Outside these areas, Invitae does provide testing for neurological, pediatric, and rare diseases but the amount of information they offer is comparatively sparse.

Finally, the most extensive reports which Invitae provides are those for the ‘boosted-exome’ tests. These tests are intended for individuals suffering from a suspected hereditary disease that has yet to be identified by less comprehensive testing methods, such as those included within the broader range of Invitae’s diagnostic tests.

The boosted exome reports include a clinical summary of the information gleaned from the test, followed by an extensive analysis of the suspected gene variants which have medical implications for the patient. Exome tests can only be ordered by health-care providers and not by private clients through an independent physician, therefore it is assumed that the report will be digested and understood in direct correspondence with one’s general practitioner.

Cost of Invitae

Evidently one of Invitae’s advantages is the opportunity to offset the expenditure of genetic testing by suppressing costs through an insurance provider. To the extent that this has increased the accessibility of DNA testing in the realm of diagnostic and reproductive tests, Invitae has been unarguably successful.

By partnering with healthcare and insurance providers, Invitae attests that the majority of its users pay less than $100 out of pocket for any test of a diagnostic or reproductive nature. In addition, Invitae offers a number of additional benefits and services at no further cost to the user. These include scheduling post-test genetic counseling sessions (for those within the U.S. and Canada), as well as the option to test a family member’s DNA for the expression of a hereditary genetic variant found in one’s own test results. However, many customers report being charged more than it was advertized to them.

Invitae’s cost-benefit alters when it comes to what they call their ‘proactive testing.’ These tests are self-described as being for adults who are generally healthy and hoping to understand their own genetic predispositions and associated health risks. This description would seem to include a large majority of individuals who are seeking genetic testing for reasons other than medical necessity.

This type of testing can not be covered by insurance providers, so clients who order them will find themselves paying anywhere from $250, for cancer or cardiology specific tests, to $350 for a more extensive health screening. Each test must be purchase separately, so if users wish to inspect different areas of their health, they will need acquire the different tests and send in multiple DNA samples.

Is Invitae’s ‘boosted-exome’ testing worth it?

The ‘boosted exome’ test which the Invitae laboratory carries out isn’t quite as extensive as whole-genome sequencing—but it’s not that far off.

The first thing to know is that Invitae only recommends this test be used to pinpoint the diagnosis of patients who’ve already engaged in previous rounds of fruitless testing, and who are nonetheless suspected by their clinician to be suffering from a hereditary disease.

These tests take far longer to produce significant results (a period of 6-8 weeks), but their specificity and detail can help medical professionals to directly inform treatment.

In addition, it is important to bear in mind that this grade of clinical testing can only be requested by a healthcare provider for their patient, not by individuals merely seeking to glean more detailed information about their own genetic exome.

So in short, ‘boosted-exome’ testing can be worth it under very specific and urgent circumstances for patients who continue to struggle with the unidentifiable symptoms of a pervasive genetic disease. However, in these rare scenarios, it will be up to one’s healthcare provider to decide whether whole exome sequencing is a viable option for aiding a patient.

Health Recommendations: The Invitae Lab brought into perspective

Guiding their users through the information offered by a genetic report is a critical part of Invitae’s process, and one of the ways they do this is by providing clinically supported information to their clients about how to move forward.

However, their method of delivery is unique as Invitae does not provide consistent health recommendations. Rather, they claim that the genetic counseling they provide offers users relevant advice about how to accordingly alter their behaviors, practices, or consumption patterns.

While Invitae makes these genetic counseling sessions widely available and emphasizes their accessibility to all clients who have received the results of a genetic screening, it is unclear what recommendations Invitae may provide to its clients following this initial, post-test session.

In addition, while Invitae specifies that all of its genetic counselors are medical experts trained to interpret and explain the results of their tests, a certain amount of variance is to be expected within individual client experiences.

It is clear that steering its users towards effective health decisions based on genetic testing is high on Invitae’s priority list. While post-test counseling sessions can help accomplish this, it does not offer much individual agency to users to explore cemented recommendations without having to consult an outside advisor on each topic.

Invitae Corporation Privacy: Data and Security

Invitae claims to make fairly significant commitments to protect its users’ data and private information; they do not sell nor exchange identifying data of clients with any third party companies.

They do, however, share what is called ‘de-identified data’ with a number of public research cohorts and databases to aid genetics research. You can read more about what Invitae categorizes as ‘de-identified data’ here.

Invitae attests that sharing de-identified genetic data is hugely beneficial to understanding virulent genetic diseases, and by extension, aiding those suffering from such afflictions. Even so, Invitae offers the option to its users to opt-out of sharing their de-identified genetic data by changing restrictions within their account settings.

Partnerships

As noted above, Invitae was originally a subsidiary of Genomic Health. Genomic Health was founded by Randy Scott who had previously served as CEO of Incyte, a biopharmaceutical company that headed the development of a promising rheumatoid arthritis drug in 2014. To date, there have been no public incidents that indicate a conflict of interest in Invitae’s corporate structure or upper management.

SelfDecode vs Invitae

1. SelfDecode offers vast health, wellness, and lifestyle suggestions that you can implement with immediacy, all based on the most current clinically valuable research. Invitae also offers its clients clinical guidance in the form of genetic counseling, but only within the more narrow diagnostic, reproductive, or proactive areas of testing.
2. SelfDecode explains why each recommendation is being made so that you can grasp the underlying rationale. Invitae also makes clients’ understanding a clear aim, however, there is a significant amount of expected variation in recommendations provided by genetic counselors. In addition, the reasoning behind such suggestions might not always be clear since Invitae does not provide actionable advice within their test reports.
3. SelfDecode prioritizes recommendations based on an extensive, comprehensive analysis of all relevant genes rather than just one at a time. Invitae also emphasizes genes and mutations which are of medical significance to the user, as long they are within the realm of the specific test which they have requested.
4. SelfDecode takes a holistic approach to genetic analysis, giving recommendations that are specific to your genes and superior for the health issue in question. Invitae also seeks to improve their clients’ overall health through genetic testing by helping practitioners to aid their patients.
5. SelfDecode engages in extremely thorough testing, looking at up to 83 million variants to provide an exhaustive examination of genetic risks. While Invitae’s whole exome sequencing is in the same realm of inclusivity, their other testing categories vary in terms of the number of genes investigated.
6. SelfDecode supports all of its testing, recommendations, and processes with peer-reviewed scientific research to ensure the efficacy and legitimacy of its clients’ experience. Invitae, while integrating clinical studies into the conclusions of its reports, requires users to download a digital copy of their report to access the science.
7. SelfDecode never, ever sells or gives away your data to third parties. Invitae makes a similar commitment to security and privacy, although they do share anonymized data for research purposes.

Comparisons

Invitae News and Reviews

BirdEye – 4.2 of 5 Stars

Although the overall review scores for Invitae on BirdEye reflect a satisfied user score, there are some patterns in complaints of frustrated clients who aired concerns with failures to pay through insurance, customer service, and poor communication.

The conversation about Invitae on Yelp

Yelp users seem to be disillusioned with Invitae’s insurance payment system, citing final costs which were thousands of dollars higher than advertised.

The conversation about Invitae on Facebook

Several Facebook users claim to have been left with thousands of dollars in costs after Invitae charged their insurance companies rates far higher than what their price selection outlines. In addition, many Facebook users voiced that they were unhappy with Invitae’s customer service.

Alternatives to Invitae

SelfDecode – The singular resource for individuals who are looking to gain a comprehensive body of genetic information about themselves that will be delivered in accordance with a variety of health, wellness, and lifestyle recommendations. SelfDecode also offers an extensive professional plan for practitioners which provides the ability to assess the genetic information of multiple patients for a flat-cost.

Invitae Review Summary

Invitae is taking great strides by making genetic testing accessible to more people in a medical capacity. Their ability to partner with healthcare providers to provide support systems to clients without the monetary means to access them individually is commendable. In doing so, Invitae is contextualizing genetic testing in a new manner, normalizing it as an achievable avenue towards treatment.

Because of the strictly medical focus Invitae takes, their single-gene tests, though plentiful, are narrow in terms of the health areas they study. Further, it’s critical to have the assistance and guidance of a doctor to properly utilize their system. These resources are beneficial for those hoping to use genetic testing in an exclusively diagnostic capacity, but for individuals who are hoping to get something else out of investigating their DNA, it leaves something to be desired.

Invitae’s ‘proactive tests’ are their answer for a more casual user experience—intended for generally healthy adults who are seeking to understand their existing genetic predispositions and what they might mean for their future health.

However, these tests remain solely focused on cancer-causing mutations or those related to cardiovascular disease. In addition, in this category of Invitae’s testing the cost advantage of paying through an insurance provider becomes inoperable, and users must pay the full price out of pocket for both tests.

In general, these factors reveal Invitae as a useful medical resource for both healthcare providers and their patients to use, implementing genetic testing in diagnostic and treatment guiding practices. However, for the majority of individuals who are seeking to use genetic testing for more private or progressive purposes, there are better services available.

SelfDecode delivers an analysis of up to 83 million genetic variants, to which Invitae’s ‘proactive’ testing programs are incomparable. Their personalized health reports will continue to guide you, inform you, and improve your ability to make effective decisions about your lifestyle long after you receive your initial test results.

Finally, SelfDecode offers an additional professional plan, tailor-made for clinicians that equips doctors with the tools and information to offer their patients the best treatment possible.

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