ESMO E-Learning: Genetic Testing and Counselling in Hereditary Cancer

In this E-Learning module, the author, who practises in a specialised centre for cancer genetics, provides essentials on the concept of hereditary cancer, as well as: phenotypes and age-related penetrance, limitations and pitfalls of genetic testing, indications for testing of symptomatic patients, pre-test and post-test, genetic counselling in symptomatic patients and pre-symptomatic genetic testing. He also elaborates the patients’ trajectories and future trends. 

Hereditary cancers, as compared to corresponding sporadic cancers, tend to be characterised by earlier onset, multiple primary tumours and family history of the same cancers in relatives. 

A small fraction of patients is born with a biological predisposition to some cancers. For example, a germline, heterozygous genetic change with (almost) dominant inheritance is found in 5% of colorectal cancers, 5-10% of breast cancers, and 20% of epithelial ovarian cancers. 

In clinical practice, hereditary cancer syndromes are frequently underestimated and it is expected that this E-Learning module will help oncologists to identify the indications for referral to cancer genetic services, become familiar with the evaluation of a risk of developing cancer, become familiar with the construction of a family tree, and encourage reporting about hereditary cancers when they present a case to the tumour board. 

Besides the careful and detailed elaboration of each segment planned in the outline of this module, a lot of emphasis is put on education about genetic counselling as a communication process, which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. 

This E-Learning module is specifically illustrated with examples in Hereditary Breast and Ovarian Cancer syndrome and Lynch syndrome.

This E-Learning module was published in 2018 and expired in 2020.