Everyone from the genetic, genomic, lab, and pharmaindustry should at this point understand that there are “gaps” currently when assuring quality of NGS (Next Generation Sequencing) based testing in CLINICAL laboratory settings.
This working group CLIAC (Clinical Laboratory Improvement Advisory Committee) was tasked on providing input in developing recommendations to Centers for Disease Control and Prevention, Centers for Medicare & Medicaid Services, and FDA.
With little to no regulation or oversight in the Laboratory Developed Testing (LDT) space, problems exist that ultimately impact patient care and drive up the cost of healthcare.
One of the many problems with hereditary cancer genetic testing is variant classification. Variant classification has been described as ‘practing medicine’….Dirty data in (ClinVar) then dirty data out…
“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.”
How does this impact patients? Inaccurate results have huge impact! Unneccessary surgeries, therapies, costs, etc.
Want to learn more on how you can assist in being a solution to the known problem? Contact the Center for Genomic Interpretation today!
Contact us at CGI to learn more. firstname.lastname@example.org or ph +1 (801) 810-4097.