“Inaccurate genetic/genomic test results often lead to inappropriate downstream medical care that can harm patients and are wasteful to the healthcare system,” notes Julie Eggington, MS, PhD, CGI’s CEO and co-founder.
ANNAPOLIS, Md. (PRWEB) May 27, 2021
The Center for Genomic Interpretation (CGI) recently launched the ELEVATEGENETICS BRILLIANT™ Program. The innovative technical competency assessment is a game changer in evaluating the accuracy of genetic and genomic lab findings. The new program fills existing regulatory and accreditation gaps by assessing how well laboratory DNA sequencing tests can detect and rigorously classify important mutations and therapeutic biomarkers, especially in genetic sequences that are technically challenging. The dynamic CGI solution supports a wide range of stakeholders by helping ensure more accurate genetic/genomic testing and reporting, which improves the fidelity of patient treatment plans and promotes better clinical outcomes.
“Inaccurate genetic/genomic test results often lead to inappropriate downstream medical care that can harm patients and are wasteful to the healthcare system,” notes Julie Eggington, MS, PhD, CGI’s CEO and co-founder. “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 solutions that improve the accuracy of genetic/genomic testing by addressing these deficiencies to promote better clinical and financial outcomes.”
The ELEVATEGENETICS BRILLIANT Program uses advanced in silico proficiency testing to assess widely used next generation sequencing (NGS) technologies. The Program can be used to evaluate the competency of hereditary or germline disease tests, as well as solid or liquid tumor profiling tests.
“I am excited to be part of CGI’s ELEVATEGENETICS BRILLIANT program,” adds John Pfeifer, MD, PhD. “Many 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.” Dr. Pfeifer is a member of CGI’s Standards Committee and a thought leader in molecular genetic testing protocols.
CGI is offering several unique ELEVATEGENETICS programs that 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 test findings.
For more information about CGI, see http://www.genomicinterpretation.org.
The Center for Genomic Interpretation – http://www.genomicinterpretation.org
The Center for Genomic Interpretation (CGI) is an independent 501(c)(3) nonprofit organization with the mission to save and improve lives through encouraging careful stewardship of clinical genetics, genomics and precision medicine. Too frequently the precision medicine goals of patients and their providers are unknowingly thwarted by inaccurate or ineffective genetic or genomic testing. We facilitate the realization of value from among the confusing scramble of the new precision medicine era. The CGI team consists of clinical genetics and genomics scientific leaders, healthcare policy veterans, experienced business professionals, and others dedicated to helping stakeholders achieve the vision and promise of precision medicine. CGI offers a range of programs and services targeted to all stakeholders including patients, providers, payers, pharmaceutical developers, policy makers and laboratories.