Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.

ABSTRACT: Participation of clinical genetic laboratories in External Quality Assessment schemes (EQAs) is a powerful method to ascertain if any improvement or additional training is required in the diagnostic service. Here, we provide evidence from recent EQAs that the competence in recognizing and interpreting cytogenetic aberrations is variable and could impact patient management. We identify several trends that could affect cytogenomic competence. Firstly, as a result of the age distribution among clinical laboratory geneticists (CLGs) registered at the European Board of Medical Genetics, about 25-30% of those with experience in cytogenetics will retire during the next decade. At the same time, there are about twice as many molecular geneticists to cytogeneticists among the younger CLGs. Secondly

SUBMITTER: Hochstenbach R 

PROVIDER: S-EPMC8115145 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature