“Would you want to know?” Questions of utility and responsibility in Italian laypersons’ preferences about genetic risk communication

We surveyed the preferences of Italian laypersons (n = 609) regarding the communication of genetic risk information to and within families, presenting scenarios about three genetic conditions (Cystic Fibrosis, CF; Hereditary Cancer, HC; and early-onset Alzheimer’s disease, AD). We found that almost all of the participants (565/609, 93%) were interested in receiving genetic risk information about at least one of the diseases, and 95% of these also stated they would have genetic testing. Interestingly, 78% of participants in this subset wanted to be informed of their genetic risk and have testing for all the genetic conditions presented in the survey. The main motivating factors were prevention for HC, reproductive responsibility for CF, and life-planning and emotional preparedness for AD, covering a range of elements of clinical, health-related and personal utility. In addition, over a third of our study participants (198/565, 35.0%) indicated that both family members and healthcare professionals are morally responsible for communicating genetic risk information; over a fourth (148/565 26.2%) felt that the responsibility lies with everyone involved: family members, healthcare professionals and also themselves. Findings indicate that bringing into focus individual needs that go beyond medical care may help improve communication about genetic risk and informed choices about genetic testing. Moreover, the Italian public opinion is open to the possibility of a proactive role for healthcare professionals in disseminating genetic risk information to family members, particularly within the frame of a collaborative effort.