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dc.contributor.authorChai, SY
dc.contributor.authorPeng, R
dc.contributor.authorZhang, R
dc.contributor.authorZhou, L
dc.contributor.authorPillay, N
dc.contributor.authorTay, KH
dc.contributor.authorBadrick, T
dc.contributor.authorLi, J
dc.contributor.authorHoran, MP
dc.description.abstractLiquid biopsy testing is rapidly emerging as a diagnostic means of identifying circulating free DNA (cfDNA) disease-associated variants. However, the reporting of cfDNA variants remains inconsistent due in part to the application of multiple testing pipelines which raise uncertainty about current cfDNA detection efficiency. External quality assurance (EQA) programs are required to monitor, evaluate and help improve laboratory performance for cfDNA variant detection and in clinical interpretation. This study therefore evaluated the performance of diagnostic laboratories currently performing cfDNA testing in China, Australia and New Zealand. A total of 89 laboratories participated in this EQA program. Reference testing material comprised of cfDNA manufactured to contain six different genotypes in four different genes (EGFR, KRAS, BRAF, NRAS). The predicted genotypic variant allelic frequencies ranged between 0.5% - 2.5%. Proficiency testing used a z-score on the laboratory consensus allelic frequency data to compare laboratory performance for the detection of the different genotypes. Allelic frequency genotyping data were received from 88 of the 89 laboratories. Next generation sequencing and digital PCR testing platforms were primarily used by participants in this pilot EQA. The average consensus data for each cfDNA genotype identified allelic frequencies ranging between 0.39% - 4.4%. Z-score proficiency testing found that >92% of clinical laboratories were concordant for detecting the cfDNA variants. The data from this pilot study suggest that current cfDNA testing platforms can detect cfDNA allelic frequency variants from 0.39% and above with high levels of confidence. In addition, these data highlight the importance of laboratories enrolling on EQA programs so that proficiency in cfDNA diagnostic testing can be determined and potential sources of error identified and addressed.
dc.publisherSpringer Netherlands
dc.relation.ispartofjournalPathology and Oncology Research
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchOncology and Carcinogenesis
dc.subject.keywordsCirculating free DNA (cfDNA)
dc.subject.keywordsDigital PCR
dc.subject.keywordsExternal quality assurance
dc.subject.keywordsLiquid biopsy
dc.subject.keywordsNext-generation sequencing
dc.titleExternal Quality Assurance of Current Technology for the Testing of Cancer-Associated Circulating Free DNA Variants
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationChai, SY; Peng, R; Zhang, R; Zhou, L; Pillay, N; Tay, KH; Badrick, T; Li, J; Horan, MP, External Quality Assurance of Current Technology for the Testing of Cancer-Associated Circulating Free DNA Variants, Pathology and Oncology Research, 2019
gro.description.notepublicThis publication has been entered into Griffith Research Online as an Advanced Online Version
gro.hasfulltextNo Full Text
gro.griffith.authorBadrick, Tony C.

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