Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data.

作者: Sarah Berwouts , Emmanuelle Girodon , Martin Schwarz , Manfred Stuhrmann , Michael A Morris

DOI: 10.1038/EJHG.2012.131

关键词:

摘要: Participation in external quality assessment (EQA) is a key element of assurance medical laboratories. In genetics EQA, both genotyping and interpretation are assessed. We aimed to analyse changes the completeness clinical laboratory reports European cystic fibrosis EQA scheme investigate effect number previous participations, accreditation/certification status, setting test volume. distributed similar versions mock cases eliminate influence difficulty question on performance: patient (case 1) carrier 2). then performed retrospective longitudinal study over 6-year period from 298 participants for case 1 (2004, 2008, 2009) 263 2 (2006, 2009). The participations had positive score (P<0.0001), whereas volume no effect. Completeness improved time. presence ‘requirement studying parents qualify genotype' increased most (from 49% 2004 93% still observed room improvement elements that concerned offering testing familial mutations relatives prenatal/preimplantation diagnosis (16% 24% omission, respectively, Overall, regular participation contributes reports, with potential value care patients families by healthcare professionals involved genetic testing.

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