HTA of genetic testing for susceptibility to VTE in Italy: ethical consideration

In order for the discovery of such mutations not to engender stigmatization of, or discrimination against, the individuals carrying them, an ethical analysis founded on the value and centrality of the human being is essential, united with efforts directed at educating people. It is important not only to help people understand the differences between mutation and disease, risk assessment, susceptibility penetrance, polygenicity, the interaction between genes and environment, the possibility of false negatives and false positives in genetic testing, but also to help people make choices responsibly. For this reason, education should focus on scientific facts, but it should also encompass psychological, social and ethical aspects. The education of patients lies in the hands of family physicians, who should act as intermediaries between the patients and the genetic services.