Objectives and design: In order to provide all participants of the Sixth International Workshop on Multiple Endocrine Neoplasia and von Hippel-Lindau Disease with the opportunity to express their opinion on medical, ethical and social issues on clinical management of these hereditary cancer syndromes, a meeting employing an interactive voting system was organized.
Results: In many aspects, the majority of the participants shared the same opinion. The following percentages of participants felt that, if a specific germline mutation is present in a definitely affected family member, DNA diagnosis should be performed in the offspring of this patient before the age of 10: 78% for MEN-1, 93% for MEN-2, and 71% for VHL. About 71% felt the clinical specialist should provide information about the consequences of DNA analysis and be responsible for disclosing the DNA test results and performing genetic counselling. If possible, selective surgery is preferred to maintain organ function. To make a complete diagnosis in a patient with an apparently sporadic tumour, 89% believed that mutation analysis of germline DNA is mandatory in order to investigate the possibility of inherited disease. In several areas, controversial opinions exist, depending on diversity in discipline, specific research area, experience in the field, and cultural and religious backgrounds. In particular, in vitro fertilization combined with pre-implantation genetic diagnosis is an area which attracts considerable emotion.
Conclusions: In order to avoid confusion in the families, explicit and common guidelines are needed for the identification, treatment and follow-up of individuals who have predisposing MEN or VHL mutations. Close collaboration between endocrinologists, oncologists, surgeons, pathologists, psychologists and geneticists is required in order to establish and verify such guidelines.