Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys

Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists

“…In addition, preanalytic sample switching could have possibly accounted for a significant proportion of errors (~50%) observed in these PT surveys, based on a comparison of the expected genotype for each of the three samples concurrently tested in a given survey. An analogous observation has been documented for other CAP PT surveys, 14,15 suggesting that analytical genotyping accuracy for real-world clinical samples may be higher than that measured by the PT surveys. Although there is no objective way of determining whether preanalytic errors are higher for the PT survey samples than for clinical samples, it is worth noting that due to the nature of the PT survey samples, they are typically not barcoded or labeled in the same manner that clinical samples are and therefore must be processed and handled differently (manually), which may lead to an increased rate of preanalytic labeling errors.…”

“…Previous publications have analyzed CAP/ACMG PT data for a variety of molecular genetic tests, including microsatellite instability, Tay-Sachs disease, Canavan disease, familial dysautonomia, BRCA1/2, pharmacogenetic analytes, Huntington disease, cystic fibrosis, fragile X syndrome, and other rare inherited disorders. 14,15,[22][23][24][25][26][27] Other publications have examined cystic fibrosis molecular testing in both the United States and Italy. 28,29 All of these publications indicate that molecular genetic tests have excellent analytic performance, with an overall sensitivity greater than 95% and specificity greater than 99%.…”

Cystic Fibrosis

“…The PT data from the most recent 11 years of this program have been published. 42 CAP PT also includes methods-based external PT for Sanger sequencing, which is suitable for CFTR PT when applied in combination with the analyte-specific PT. 43 Methods-based next-generation sequencing PT will be offered as of 2015.…”

A panoramic view of the accuracy of molecular genetic testing

“…The paper by Richards et al, "Results From an External Proficiency Testing Program: Eleven Years of Molecular Genetics Testing for Myotonic Dystrophy Type 1, " 1 is the latest in a series of articles in this journal summarizing the performance of laboratories engaged in the College of American Pathologists (CAP) proficiency testing (PT) surveys. [1][2][3][4][5][6][7][8] In each of these articles, approximately 10 years of PT data were analyzed for overall performance by molecular genetics laboratories and for global performance over time; these data were not provided to individual participating laboratories and are not available outside of these publications. It is not feasible to publish all PT survey data at once because there are so many data points to analyze and there are different aspects that are important to address for each clinical disease/test.…”

“…9 The joint CAP/ACMG Biochemical and Molecular Genetics (BMG) committee oversees the CAP PT surveys for molecular genetic testing and has worked to summarize the longitudinal data from the PT surveys for seven of the most commonly tested genetic diseases and for methodsbased PT for Sanger sequencing. [1][2][3][4][5][6][7][8] The data from individual rounds of PT, which are offered two times per year, are not made publicly available by CAP, except to laboratories enrolled in their PT programs.…”