Implementation of a companion diagnostic in the clinical laboratory: The BRAF example in melanoma

摘要: A companion diagnostic test provides information that is essential for the safe and effective use of a corresponding therapeutic product as indicated in drug instructions. The implementation follows rules molecular somatic mutations routine clinical laboratory environment needs guidance on practical aspects, including choice proper analytical method procedures internal external quality controls. Selection appropriate assay detection genetic alterations depends several factors: type mutation under study, sample to be assayed its preparation procedure. In addition, results require complex interpretation process data patient's genotype, translation identified variant into predicted phenotype knowledge restrictions used. relation these aspects herein we report an opinion paper Working Group Personalized Laboratory Medicine jointly constituted by European Federation (EFLM) Society Pharmacogenomics Theranostics (ESPT) using, example, BRAF genotype analysis tumor tissue samples identification melanoma patients can benefit treatment with inhibitors. manuscript focused following aspects: i) medical rationale, ii) methodologies analysis, iii) performance evaluation iv) specific clinicians. critical would useful laboratory.