The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome.

摘要

Heterogeneous attitudes in genetic testing practice exist among countries in terms of access, acceptance, use, and rules. The European Molecular Genetics Quality Network (EMQN) is trying to harmonize genetic testing services across Europe by developing External Quality Assessment (EQA) schemes for different inherited disorders. One that EMQN focussed on early is Lynch syndrome (HNPCC) associated with inherited mutations in mismatch repair (MMR) genes. In addition to early-onset colorectal cancer, such mutations confer an increased risk of gynaecological, urinary tract, and gastrointestinal adenocarcinomas. Genetic testing results guide screening programs for patients and families as specific clinical guidelines have been proven to reduce morbidity and mortality [Grover and Syngal, 2010].