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Invitae Genetic Testing

by Invitae · Based in United States → — Bringing the future of genetic testing within reach

Maternal-Fetal Medicine Oncology Pediatrics

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Overview

Invitae, now part of Labcorp, offers comprehensive genetic testing services designed to integrate genetic data into routine healthcare. The company aims to uncover personal health insights and facilitate personalized care for patients. Their broad test offerings cover various stages of life and medical specialties, providing a single, reliable source for genetic testing.

Invitae emphasizes meaningful insights, expanded access through most health plans and Labcorp’s nationwide network of conveniently located patient service centers, and trusted expertise in advancing genetic testing and treatments. The company leverages advanced technologies, including robotics, artificial intelligence, machine learning, and software engineering, alongside world-class genetic expertise for variant interpretation and diagnosis.

They support clinicians with dedicated services and tools, including genetic counselors who assist in interpreting results and determining next steps. Genetic counseling sessions are available at no additional cost for patients in the US, US territories, and Canada who have ordered a currently offered Invitae genetic test.

Reviewed by Pouyan Golshani, MD — Interventional Radiologist

Key Features

Comprehensive genetic testing services across many medical specialties
AI-powered interpretation and diagnosis engine for variant classification
Genetic counseling services included at no additional cost (US, US territories, Canada)
Broad test offerings informing every stage of life
Flexible billing options and coverage by most health plans
Access to Labcorp's nationwide patient service centers
Online portal for ordering, tracking, and viewing patient reports
Family History Tool for drawing and managing patient pedigrees
Routine exome reanalysis for updated genetic findings
Support for multiple languages for genetic counseling (via interpreters) and patient guides (Spanish, French)

Use Cases

Diagnosing hereditary conditions
Managing hereditary conditions
Guiding personalized patient care and treatment decisions
Assessing genetic risk for various diseases, including cancer and cardiovascular conditions
Carrier screening for reproductive health
Resolving variants of uncertain significance (VUS)

What Physicians Need to Know

Evidence Base

Invitae adheres to American College of Medical Genetics and Genomics (ACMG) guidelines for report structuring and variant classification. They utilize their proprietary Sherloc framework, an industry leader, which builds upon ACMG/AMP guidelines. Clinical practice resources are based on standard medical management guidelines and published data, including NCCN Guidelines for cancer. Invitae actively contributes to literature with over 200 research articles and submits over 1.7 million variants to ClinVar.

Clinical Validation Studies

Validation studies demonstrate high accuracy: >99.9% sensitivity and specificity for detecting deletions and duplications across various clinical areas. A comparison of Invitae's hereditary cancer panel to traditional BRCA1/BRCA2 tests showed >99.9% analytic sensitivity and specificity. The FDA granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, validated with u226599.0% accuracy across over 9,000 clinical samples.

Alert Fatigue Management

While not a traditional alert system, Invitae's focus on reducing Variants of Uncertain Significance (VUS) directly addresses a form of clinical uncertainty that can lead to 'fatigue' from inconclusive results. They employ multiplex assays of variant effects (MAVEs), RNA analysis, machine learning, and big data approaches to provide definitive variant classifications, with over 99% remaining stable.

Drug Interaction Checking

Invitae offers pharmacogenetic panels, which provide insights into how a patient's genetic makeup may influence their response to medications, aiding in personalized treatment selection and potential prevention of adverse drug reactions.

Differential Diagnosis Support

Invitae's multi-gene panels and exome sequencing are designed for diagnostic purposes, providing genetic insights to aid in the diagnosis of genetic disorders. Broad panel testing facilitates efficient evaluation of multiple genes for conditions with clinical overlap. Clinical support services, including on-demand consultations with genetic experts, are available to help physicians review cases and interpret results.

Guideline Update Frequency

Invitae strives to keep its result guides current with the latest medical information. They routinely re-evaluate and reclassify variants, issuing addended reports if classifications change. Their variant classification framework is continuously updated, and they present data on variant reclassification at scientific meetings.

Clinical Workflow Integration

Invitae offers robust EHR integration capabilities, with over 400 customer integrations and a dedicated Epic-certified team. This streamlines workflows by enabling direct ordering and automatic population of patient records with genetic test results, interpretations, and clinical implications, reducing manual data entry. They also support Epic Aura for enhanced connectivity with Epic EHR users.

Decision Audit Trail

The Invitae Family History Tool includes a revision history audit trail, allowing users to track changes made to pedigrees and revert to older versions if needed.

Physician Tip

To maximize the utility of Invitae Genetic Testing:n1. **Leverage EHR Integration:** Utilize the seamless EHR integration for efficient test ordering, result access, and reduced administrative burden, especially with Epic Aura connectivity.n2. **Utilize Clinical Support:** Take advantage of Invitae's on-demand clinical consultations with genetic experts to discuss complex cases, select appropriate tests, and aid in result interpretation.n3. **Provide Detailed Clinical History:** Supplying comprehensive clinical information with test requests is crucial for accurate variant classification and resolution of Variants of Uncertain Significance (VUS).n4. **Inform Patients about Counseling:** Advise patients about the availability of complimentary post-test genetic counseling services to help them understand their results and implications for their family.n5. **Stay Updated on VUS Reclassification:** Be aware that Invitae actively reclassifies VUS and will issue addended reports, ensuring you have the most current information for patient management.

Invitae provides extensive integration capabilities with Electronic Health Record (EHR) systems, boasting over 400 completed customer integrations and a specialized Epic-certified team. This includes direct support for Epic Aura, facilitating streamlined ordering and automated transfer of genetic test results, interpretations, and clinical implications into patient records. The Family History Tool supports import/export of pedigree data in various formats (GEDCOM, HL7, XML) for broader compatibility, though direct EMR integration for the tool itself is not currently available.

At a glance

Pricing 1

Deployment Cloud Based

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Details

Category	Clinical Decision Support & Reference, Lab & Diagnostics, Pathology AI
Pricing	1 Most Invitae tests are covered by health plans; patient out-of-pocket typically $0-$100; patient pre-pay option of $250 per clinical area; maximum bill to insurance/institution is $1500 per clinical area; sponsored no-charge testing available for eligible patients
Deployment	Cloud-based
Compliance
BAA Available	Unknown AI-estimated
HIPAA Compliant	Unknown AI-estimated
FDA Status	1 AI-estimated Invitae received FDA de novo marketing authorization for its Common Hereditary Cancers Panel in September 2023. This in vitro diagnostic test detects hundreds of genetic variants associated with an elevated risk of developing certain cancers and is the first of its kind to be granted such authorization.
Integrations
EHR	Not specified
Specialties	Maternal-Fetal Medicine, Oncology, Pediatrics

What the Web Says

Invitae Genetic Testing offers a wide array of diagnostic and proactive genetic tests for various conditions, including hereditary cancers, heart disease, and reproductive health. The company aims to integrate genetic information into mainstream medicine and provides genetic counseling services. While generally considered a reputable laboratory, Invitae filed for bankruptcy in early 2024 and was acquired by Labcorp, leading to some operational issues and concerns among users.

Overall: Mixed

Strengths

Extensive collection of single-gene and panel tests, including exome sequencing.
Offers genetic counseling services to help interpret results.
Many diagnostic tests may be covered by health insurance, and financial assistance programs are available.
Provides tools for medical professionals to record family history and recommend testing.
HIPAA-compliant and labs are CLIA and CAP-certified, ensuring data privacy and testing integrity.
Considered high quality and has contributed to making clinical-grade genetic testing more accessible.

Limitations

Proactive screening tests are generally not covered by health insurance.
Customers frequently report confusing and damaging billing processes, even when initially quoted low or zero out-of-pocket costs.
Does not provide raw genetic data access, limiting cross-referencing with other services.
Some users report processing errors, delays, and issues with customer support.
May not test for all specific genes, as noted in cases like certain Ehlers-Danlos Syndrome variants.
Operational issues and limited testing options have been noted since the company's financial troubles and acquisition.

Based on reviews from: Nebula Genomics, Medium, Nucleus, Indeed.com, Xcode Life, Reddit, Better Business Bureau, Invitae (official website)

Last updated: 2026-07-22

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Press & Coverage

MedTech Dive

Invitae test for hereditary cancers gains FDA de novo nod

Invitae received de novo authorization from the FDA for an in vitro diagnostic test that detects hundreds of genetic variants linked to an increased risk of developing various cancers. This test analyzes DNA from a blood sample to identify variants in 47 genes associated with hereditary breast, ovarian, uterine, colorectal, gastric, prostate, melanoma, and pancreatic cancers.

2023-10

OncLive

FDA Grants Marketing Authorization to First DNA Test to Assess Genetic Predisposition to Select Cancers

The FDA granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, an in vitro diagnostic test that identifies genetic variants associated with an elevated risk of developing certain cancers. This marks the first device of its kind to receive such authorization from the FDA.

2023-10

FDA News Release

FDA Grants First Marketing Authorization for a DNA Test to Assess Predisposition for Dozens of Cancer Types

The FDA authorized the Invitae Common Hereditary Cancers Panel, a DNA test that detects hundreds of genetic variants linked to an increased risk of developing various cancers. The test was reviewed under the FDA's De Novo premarket review pathway and demonstrated over 99% accuracy in more than 9,000 clinical samples.

2023-09

Labcorp

Labcorp Finalizes Acquisition of Select Assets of Invitae

Labcorp announced the completion of its acquisition of select assets from Invitae, aiming to enhance its genetic testing technology and improve personalized care in oncology and rare diseases. This acquisition expands Labcorp's specialty testing capabilities by integrating Invitae's advanced technology.

2024-08

Cole Schotz

Invitae Files for Chapter 11 Bankruptcy Protection

Invitae Corp. filed for Chapter 11 bankruptcy protection in New Jersey, citing nearly $1.5 billion in debt. The company attributed its financial difficulties to high operating costs, leverage from recent acquisitions, inflation, and rising interest rates.

2024-02

PR Newswire

Invitae Announces Partnership with Epic to Streamline Genetic Testing

Invitae partnered with Epic, a healthcare software company, to streamline interactions with provider organizations in the Epic community. This collaboration aims to make genetic test results more accessible within providers' workflows, facilitating the use of genetic insights for treatment decisions.

2023-03

PR Newswire

Landmark Study Reveals Magnitude of Uncertain Results in Clinical Genetic Testing for Hereditary Disease, Points to Evidence-Based Solutions to Reach Definitive Results

Invitae announced findings from the largest study to date on uncertain results from hereditary disease genetic testing, published in JAMA Network Open. The study analyzed data from over 1.6 million individuals and found that 41% had at least one Variant of Uncertain Significance (VUS).

2023-10

Health decoded (Invitae Blog)

Integrating genetic testing into EHR systems | Invitae - Health decoded

Invitae explores the potential of integrating genetic testing into Electronic Health Record (EHR) systems to address challenges in healthcare workflows. This integration aims to provide real-time access to genetic information, enhancing personalized care and informed decision-making.

2024-04

Videos

Product demos, reviews, and walkthroughs for Invitae Genetic Testing.

Invitae CEO on the importance of genetic testing for preventative care

CNBC Television

Invitae - Genetic Testing

WMAR-2 News

Submitting my genetics sample to invitae!

Giuliana

Invitae Genetic Testing

Invitae

Invitae Real Patient Story: Debbi Crowder, Genetic Testing Advocate

Invitae

How to Perform an Invitae Genetic Test: Step-by-Step Guide

Her Helping Habit - HHH

View all on YouTube

Frequently Asked Questions

How does Invitae leverage AI in its genetic testing workflow, from sample analysis to result interpretation?

Invitae utilizes AI and machine learning algorithms to enhance various stages of its genetic testing, including variant prioritization, classification, and interpretation support. These AI tools help streamline the analysis of vast genomic data, identify potential pathogenic variants more efficiently, and assist geneticists in generating comprehensive reports.

What data privacy and security protocols does Invitae have in place, particularly concerning the AI processing of sensitive patient genetic information?

Invitae adheres to stringent data privacy regulations like HIPAA and GDPR, employing robust encryption, access controls, and de-identification techniques for patient data. AI processing occurs within these secure frameworks, ensuring that patient genetic information remains protected and is only used for its intended diagnostic purpose.

What are the inherent limitations or potential biases of AI in interpreting Invitae's genetic test results, and how are these addressed?

While powerful, AI in genetic interpretation can have limitations, such as potential biases from training data or challenges with novel or rare variants. Invitae addresses this by having all AI-generated interpretations reviewed and validated by expert human geneticists and lab directors, ensuring clinical accuracy and mitigating AI-specific risks.

How does Invitae's AI-enhanced genetic testing compare in accuracy and comprehensiveness to other labs that may use less AI in their interpretive processes?

Invitae's AI-enhanced approach aims to increase efficiency and consistency in variant interpretation, complementing the expertise of human reviewers. While other labs may rely more heavily on manual review, Invitae's integration of AI is designed to provide a highly accurate and comprehensive analysis, often allowing for broader gene panels and faster turnaround times.

Does the integration of AI into Invitae's testing process affect the cost to patients or the reimbursement structure for physicians?

Invitae's goal is to make genetic testing more accessible and affordable, and AI integration contributes to this by increasing efficiency and scalability. While specific pricing varies by test and insurance coverage, the use of AI is generally intended to optimize costs rather than increase them, often leading to competitive pricing and broader insurance acceptance.

To what extent should physicians rely solely on AI-generated interpretations from Invitae, and what is the role of clinical correlation?

Physicians should view AI-generated interpretations from Invitae as a powerful tool to aid diagnosis, not a standalone definitive answer. Clinical correlation with the patient's phenotype, family history, and other diagnostic findings remains crucial, and Invitae's reports are designed to support, not replace, the physician's clinical judgment.

How frequently are Invitae's AI algorithms updated, and what is the validation process for these updates to ensure continued accuracy and clinical relevance?

Invitae continuously updates and refines its AI algorithms based on new scientific discoveries, clinical data, and performance monitoring. These updates undergo rigorous internal validation processes, including retrospective analysis and comparison with expert interpretations, to ensure they maintain or improve accuracy and clinical utility before deployment.

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