fbpx

ELEVATEGENETICS

Initiative

Maximizing the Value in Precision Medicine

Promoting More Accurate Genetic/Genomic Testing, Analysis and Reporting

“Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller…There is no federal oversight of the clinical validity of most genetic tests.”

– The National Institutes of Health (NIH), “Regulation of Genetic Tests” webpage

The  Problem 

Inaccurate genetic/genomic test results often lead to inappropriate downstream medical care that can harm patients and are wasteful to the healthcare system. Seemingly equivalent genetic/genomic testing laboratories that have all the same accreditations and regulatory approvals can vary greatly in their results. While no diagnostic test is perfect in every scenario, efforts must be made to protect patients from diagnostic tests with flaws that can be discovered through independent evaluation. We need a solution that improves the accuracy of genetic/genomic testing by addressing these deficiencies to promote better clinical and financial outcomes.  

The  Solution 

The independent and nonprofit Center for Genomic Interpretation (CGI) is now offering four unique programs that fill in these assessment gaps and create a pathway for more accurate genetic/genomic testing and reporting protocols.  CGI’s ELEVATEGENETICS® offers meaningful ways to:

  • Promote population health
  • Improve laboratory performance
  • Increase transparency
  • Educate providers and consumers
  • Enhance payer accountability 
  • Establish evidence-based treatment pathways 
  • Eliminate wasteful spending

The ELEVATEGENETICS programs are a game changer because they establish meaningful and actionable pathways to improve genetic/genomic testing, analysis and reporting.  For payers, ELEVATEGENETICS metrics offer unique evaluations when selecting and contracting with laboratories.  For laboratories, these programs offer a unique third-party review focusing on key aspects of the genetic/genomic testing process which can dramatically improve the accuracy of the findings.

The suite of ELEVATEGENETICS services include the following:

The Need
ELEVATEGENETICS Program Name
Brief Description
Determines the billing accuracy of a genetic/genomic test administered by a laboratory based on the technical landscape of that test.
The Need
ELEVATEGENETICS Program Name
Brief Description
Assesses if laboratory DNA sequencing tests can detect clinically important yet technically challenging genetic variants, and if the laboratory can rigorously classify important mutations and therapeutic biomarkers.
The Need
ELEVATEGENETICS Program Name
Brief Description
Evaluates key workflows and performance capabilities of a modern laboratory genetic/genomic testing program through a global assessment of processes, strategies, methodologies, quality assurance activities, and risk management exposure points.
The Need
ELEVATEGENETICS Program Name
Brief Description
Supports pre-authorization and care coordination when certain precision therapies are recommended based on a positive genetic/genomic test result. The classification of variants(s) identified on the patient’s genetic/genomic test report is fact checked by experts through a comparative effectiveness assessment of existing scientific findings.

“Some CLIA and CAP accredited labs routinely bill for things that their technologies cannot do. They know that few payers have the scientific technical expertise to catch these over-billing practices. The Center for Genomic Interpretation provides this needed scientific expertise to payers.”

– Dr. Julie M. Eggington, CGI’s Co-founder and CEO

REQUEST A SAMPLE REPORT

ELEVATEGENETICS LANDSCAPE™ determines  the billing accuracy of a genetic/genomic test administered by a laboratory based on the technical landscape of that test. Sometimes billing codes used by laboratories are misaligned with the technical capability or scope of the tests. For example, a common misalignment is when a CLIA/CAP accredited laboratory bills the payer for the sequencing of expressed regions of genes, yet the laboratory’s application of technology consistently fails to adequately sequence all of the expressed regions. From a quality perspective, this represents a potential source of false negatives. From a billing perspective, the laboratory is billing for tests it has failed to deliver in full.

“Some CLIA and CAP accredited labs routinely bill for things that their technologies cannot do. They know that few payers have the scientific technical expertise to catch these over-billing practices. The Center for Genomic Interpretation provides this needed scientific expertise to payers.”

– Dr. Julie M. Eggington, CGI’s Co-founder and CEO

REQUEST A SAMPLE REPORT

ELEVATEGENETICS LANDSCAPE is more foundational than a billing code specificity analysis. In a specificity analysis, the payer will determine if the most specific billing code(s) were used by the laboratory for the test they describe. In contrast, LANDSCAPE checks to make sure that the test the laboratory describes to the payer is even possible based upon the application of the laboratory’s technologies.

ELEVATEGENETICS LANDSCAPE can be used as a standalone quality check or as a precursor to a billing code specificity check. In addition, LANDSCAPE also pairs well with ELEVATEGENETICS BRILLIANT to evaluate sequencing tests’ validity and usefulness.

CLIA/CAP proficiency testing for DNA sequencing tests are insufficient because they allow laboratories to pick only easy cases, and do not evaluate variant classification.

“There is no economic incentive for trying to look at more challenging cases. In fact, there is an economic disincentive as well as the fear of failing a Proficiency Test.”

“A problem for the industry is that…[the same] variant is classified as a “variant of unknown significance”, “likely benign”, and “pathogenic” by different laboratories due to variations in interpretation.”

– Quotes from the CLIA Committee Next Generation Sequencing (NGS) Workgroup. CLIAC NGS Workgroup Report, April 2019

REQUEST A SAMPLE REPORT

ELEVATEGENETICS BRILLIANT™ assesses if laboratory DNA sequencing tests can both detect and rigorously classify important mutations and therapeutic biomarkers, especially in genetic sequences that are technically challenging.

BRILLIANT uses advanced in silco proficiency testing for commonly used next generation sequencing (NGS) technology to help identify more complex variants.  The program can be used to evaluate hereditary or germline disease testing, as well as solid or liquid tumor profiling.

Minimal proficiency sample testing is a requirement of CLIA/CAP accreditation standards, yet these requirements are set very low and most laboratories avoid advanced proficiency testing opportunities. Therefore, most genetics/genomics tests have not been sufficiently evaluated for their ability to detect important and common types of disease variants. This lack of validation results in diagnostic, prognostic and theragnostic tests with higher than necessary false negative rates. BRILLIANT fills the need for more sophisticated variant detection validation.

ELEVATEGENETICS BRILLIANT also characterizes laboratories’ variant classification approaches. BRILLIANT is the only proficiency testing process that does this.  Through variant classification, laboratories determine if detected variants (aka mutations) have clinical implications or not. Usually variants do not have any clinical impact.  While there are general guidelines for variant classification, laboratories tend to adopt their own unique philosophies and approaches to variant classification. These varying approaches can differ between different tests in the same laboratory as well as between similar tests from different laboratories. These differences in approach originate primarily from the mixture of clinical and research grade evidence a laboratory is willing to use in assigning variant classifications. Differences also arise from the amount and types of evidence a laboratory has available to them.

    ELEVATEGENETICS BRILLIANT fills critical knowledge gaps to help payers and other stakeholders understand key factors that impact test accuracy and patient safety. BRILLIANT also integrates well with ELEVATEGENETICS LANDSCAPE to optimize billing and reimbursement. 

    CLIA/CAP accreditation does not evaluate the test claims of laboratories:

    “There is a need for a better understanding of clinical utility.”

    “Test validation should include from sample collection through to reporting, including not just “easy-to-reach” samples, those previously validated, but also the edge cases and the more difficult samples, this would help understanding of the true test limitations.”

    – CLIA Committee Next Generation Sequencing (NGS) Workgroup Agreement. CLIAC NGS Workgroup Report, April 2019

    REQUEST A SAMPLE REPORT

    ELEVATEGENETICS ELITE™ evaluates key workflows and performance capabilities of a modern laboratory genetic/genomic testing program through a global assessment of processes, strategies, methodologies, quality assurance activities, and risk management exposure points.

    ELITE is the most comprehensive third-party evaluation of modern genetic/genomic testing that is available in the market today. The comprehensive program is designed to reveal important test limitations which are not addressed by traditional regulatory or accreditation requirements.  As part of the detailed evaluation, CGI experts conduct a multi-point protocol inspection at both the operational and testing levels that reveal laboratory performance capabilities. 

    ELEVATEGENETICS ELITE process, structure and outcome measures were developed and approved by CGI’s Standards Committee, made up of national healthcare thought leaders.  This program empowers payers to compare and contrast seemingly equivalent genetic/genomic tests from different laboratories through the carefully elected and vetted advanced standardized metrics.

    CLIA/CAP accreditation does not evaluate the test claims of laboratories:

    “There is a need for a better understanding of clinical utility.”

    “Test validation should include from sample collection through to reporting, including not just “easy-to-reach” samples, those previously validated, but also the edge cases and the more difficult samples, this would help understanding of the true test limitations.”

    – CLIA Committee Next Generation Sequencing (NGS) Workgroup Agreement. CLIAC NGS Workgroup Report, April 2019

    REQUEST A SAMPLE REPORT

    The Program covers the following categories of evaluation:

    • Clinical utility
    • Turnaround time
    • Policy review and documentation
    • Test accuracy and validation
      • In silco proficiency testing
      • Variant classification analysis
    • Quality controls
    • Risk management
    • Billing accuracy
    • Reporting protocols
    • Outcomes

      ELITE incorporates documentation review, and the LANDSCAPE and BRILLIANT assessments, when evaluating next generation sequencing (NGS) tests.

      Laboratory Self-Assessment Option

      In addition to CGI’s third-party assessment using ELEVATEGENETICS ELITE, payers may opt to have laboratories complete a self-assessment of their own protocols and test validations using the ELITE Standards. While self-assessment cannot provide externally validated metrics, laboratory self-assessment can act as a starting point for payers seeking to minimize costs while starting a new quality assurance program for genetic/genomic laboratory contracting. CGI will work with payers to tailor the ELITE self-assessment criteria to optimize the target areas associated with the evaluation.

      ELEVATEGENETICS ELITE combines the best of various audit and testing methodologies to provide a soup to nuts evaluation of a Laboratory’s genetic/genomic testing and reporting capabilities. 

      “A problem for the industry is that…[the same] variant is classified as a “variant of unknown significance”, “likely benign”, and “pathogenic” by different laboratories due to variations in interpretation.”

      – Quote from the CLIA Committee Next Generation Sequencing (NGS) Workgroup. CLIAC NGS Workgroup Report, April 2019

      “There is no federal oversight of the clinical validity of most genetic tests.” “Clinical Validity: Refers to how well the genetic variant(s) being analyzed is related to the presence, absence, or risk of a specific disease.”

      – The National Institutes of Health (NIH), Regulation of Genetic Tests webpage.

      REQUEST A SAMPLE REPORT

      ELEVATEGENETICS CLARITY™ supports pre-authorization and care coordination when certain precision therapies are recommended based on a positive genetic/genomic test result. 

      CLARITY can be used by payers to help determine whether a recommended procedure is medically necessary or establish an evidenced-based care pathway based on the unique aspects of the patient’s conditions.  The classification of variants(s) identified on the patient’s genetic/genomic test report is fact checked by experts through a comparative effectiveness assessment of existing scientific findings, which helps provide a clearer picture of next steps.

      Appropriate prior authorization or case management applications for CLARITY include authorization of gene therapies, oncology precision therapeutics, and risk reducing surgical interventions associated with inherited disorders.

      Many “positive” variants are over-classified by laboratories. These misclassifications have been reported in the academic literature and within variant databases (including ClinVar). These publicly available reports have led to repeated use of these misclassifications by multiple labs.

      Through the use of ELEVATEGENETICS CLARITY, payers and others are made aware of instances when a laboratory may have used insufficient evidence to classify a variant as positive. The payer may then request additional evidence for the positive classification from the laboratory before approval of the subsequent precision therapy.

      ELEVATEGENETICS CLARITY protects both payers and patients from the time, expense, and side effects of precision therapies that are unlikely to work effectively. CLARITY empowers the identification of more robust treatment plans for patients and improves clinical and financial outcomes.