FOR PAYORS, LBMs, EMPLOYERS, & CLINICIANS
Do you want to know if a common type of Next Generation Sequencing (NGS) test from a given laboratory is reliably accurate?
ELEVATEGENETICS BRILLIANT TM is a best-in-class proficiency evaluation of the most commonly used Next Generation Sequencing (NGS) test types. This is necessary to ensure quality of care because the CDC's Clinical Laboratory Improvement Advisory Committee (CLIAC) has found that CLIA-mandated proficiency testing challenges are too easy, and do not include proficiency checks for laboratories' adherence to professional standards in variant classification and reporting: "While they may be meeting the checkbox of proficiency testing, they may not be meeting the challenge or the spirit of proficiency testing."
Using ELEVATEGENETICS BRILLIANT, stakeholders can confidently discover and choose the NGS tests that are most closely following critical professional standards that are designed to improve test accuracy.
ELEVATEGENETICS BRILLIANT is the only NGS proficiency test to include the scoring of NGS tests for not only variant detection and annotation, but also variant classification and clinical report clarity.
Clinicians that order tests with higher ELEVATEGENETICS BRILLIANT scores will likely reduce clinical false positive and false negative rates for their patients.
ELEVATEGENETICS BRILLIANT evaluations are best suited for the more common types of NGS tests, such as:
Hereditary Cancer Panels
Comprehensive Genomic Profiling for Oncology (CGP)
Carrier Screening Panels
Cardiac Syndrome Panels
Rare Disease Panels
Whole Exome Sequencing (WES)
Whole Genome Sequencing (WGS)
Pharmacogenomic Testing (PGx)
ELEVATEGENETICS BRILLIANTTM
Single Test Evaluation
Sample Report
Single Test Evaluation reports first provide summary scoring, then details about the performance of the test in the ELEVATEGENETICS BRILLIANT advance in silico proficiency test.
ELEVATEGENETICS BRILLIANTTM
Multi-Test Comparison
Sample Report
Multi-test side-by-side comparisons are available from CGI when the customer has access to the ELEVATEGENETICS BRILLIANT Single Test Evaluation reports for the tests to be compared.
ELEVATEGENETICS® assessments are informed by professionaly recognized standards and benchmarks from these organizations, when appropriate:
FAQs for ELEVATEGENETICS BRILLIANT
What do laboratories do in an ELEVATEGENETICS BRILLIANT proficiency test?
Participating laboratories are required to sequence a specified sample provided by CGI using their regular clinical NGS workflow. The laboratory then uploads the FASTQ sequencing files to CGI. CGI then conducts in silico mutagenesis on the FASTQ sequencing files and returns the mutagenized FASTQ files back to the laboratory for a total of 10 different mock 'patients'. For tests that regularly include RNA sequencing, RNA seq FASTQ files are also in silico mutagenized by CGI. Each mutagenized mock 'patient' digital sample represents a specific clinical scenario which is shared with the laboratory. The laboratory then uses the mutagenized FASTQ files and clinical scenario information to continue their normal clinical work flow all the way through clinical report generation. Ten 'clinical' reports are sent by the laboratory to CGI for scoring. Laboratory results are scored for adherence to professionally recognized standards for health care. The ELEVATEGENETICS BRILLIANT proficiency test result is returned to the sponsor of the evaluation, under the terms that were contractually agreed prior to the start of the proficiency test.
How are ELEVATEGENETICS BRILLIANT proficiency challenges chosen?
For a given test type, variants and clinical scenarios informed by literature review for mock 'patients' are prepared by CGI staff for discussion and possible selection by the ELEVATEGENETICS Acceptable Thresholds Committee. The variants are chosen to reflect a spectrum of variant types which are purported to be detectable and reportable by FDA approved tests, and/or widely used laboratory developed tests. CGI staff respond to committee discussion and requests to add, remove, or change variants and clinical scenarios until a majority vote approves each challenge. The challenges are specifically chosen to check to see if laboratories are using professionally recognized standards for health care, with an emphasis on variants that are potentially most meaningful in the clinical context. Careful consideration is given when devising the proficiency challenges to allow for the inherent differences in variant classification that can occur between laboratories even when laboratories are carefully following the most appropriate professionally recognized standards for variant classification.
Can a laboratory re-take an ELEVATEGENETICS BRILLIANT proficiency test?
Yes, in a sense. When laboratories "re-take" ELEVATEGENETICS BRILLIANT proficiency tests within the same evaluation period for a given version of CGI's ELEVATEGENETICS BRILLIANT proficiency test, they will receive challenges that explore the same types of issues as the first time they took the test. They will not get the same 10 mock 'patient' challenges. CGI evaluation periods for proficiency test versions typically last between 1-3 years, depending upon a number of factors.
What is the ELEVATEGENETICS Acceptable Thresholds Committee?
The ELEVATEGENETICS Acceptable Thresholds Committee helps guide key aspects of CGI's ELEVATEGENETICS initiative. The ELEVATEGENETICS Acceptable Thresholds Committee members represent patient advocates, clinical laboratory experts, clinicians, and regulators from a variety of organizations. The committee was initially formed through an open call and press release made in February 2023. Committee procedures and a conflict-of-interest policy is adhered to in accordance with protocols typical of nationally recognized accrediting and standards organizations. CGI does not reimburse any committee members.