Genomic Test Inaccuracies: CGI Speaks with the American Society of Hematology

Mar 10, 2021 | Uncategorized

CGI’s co-founder, Dr. Julie Eggington, and CGI’s ELEVATEGENETICS Standards Committee member, Dr. John Pfeifer, were interviewed by the American Society of Hematology for their article “Demystifying DNA Variant Reporting”, published on December 1, 2020. Dr. Pfeifer points out that “payers will need to start demanding quality and accuracy to drive down cost.

The article explores the benefits and challenges of using next-generation sequencing in diagnosis, prognosis, and treatment of patients with cancer. The quantity of data can give physicians unprecedented insight into the disease causes and development, however, parsing through enormous volumes of data also creates barriers to clinical incorporation.

Genetic testing laboratories providing variant interpretation do so largely without any oversight. While “any lab performing NGS must be Clinical Laboratory Improvement Amendments (CLIA)– accredited, [Dr. Eggington points out that] ‘a CLIA accreditation is basically pointless for NGS tests.’ The U.S. government legislated CLIA accreditation in 1988, long before NGS was even imagined.” Another body, the College of American Pathologist or CAP, also gives accreditation for proper documentation of testing protocols and reproducibility, but Dr. Eggington again points out that “it still doesn’t mean that the test is worthwhile. I can generate protocols and put them in binders and pass [CAP] inspection to ensure that I can reproduce the results, but it doesn’t mean that my results or interpretations are accurate.” The lack of accuracy validation can lead to a range of results depending on which laboratory performs the testing. Dr. Pfeifer adds “the problem is the databases will have a different annotation for the clinical relevance of the same variant.
In the end, while next-generation sequencing does seem to promise massive advances in quality of healthcare, we still need huge investments and commitment to realize that potential. Read the full article on the American Society of Hematology Clinical News site here.

The post Genomic Test Inaccuracies: CGI Speaks with the American Society of Hematology appeared first on Center for Genomic Interpretation.