Genetic testing in hereditary colorectal cancer

Abstract

Genetic testing for hereditary disorders has suffered a dramatic change in the last decade with the incorporation of next-generation sequencing (NGS) technologies in the clinical diagnostics routine. Consequently, mutation detection yield in hereditary cancer in general, and in colorectal cancer in particular, has increased due to the fact that more genes are screened at the same time with a similar cost and turnaround time. This chapter summarizes previous methodologies used to address genetic causes of hereditary colorectal cancer and tackles important issues regarding NGS implementation for clinical testing. Analytical validity and clinical validity and utility together with ELSI aspects are briefly addressed. Somatic versus germline testing is also discussed due to its relevance in new clinical scenarios where novel target therapies are introduced for particular genetic conditions. Altogether, we highlight the importance of creating multidisciplinary committees to interpret genetic and genomic results and translate them into good laboratory practice and clinical guidelines.