Communicating genomics in the Aosta Valley

Alessia Aillon*

The 5000genomi@VdA Project, challenges and opportunities

The process of incorporating genomics and AI into healthcare processes – a concept already applied in some countries – is gradually starting to become a reality in Italy with Progetto 5000genomi@VdA, the 5000genomi@VdA Project, and the sequencing of 5,000 genomes of patients and citizens of the Aosta Valley, focusing on the study of neurodegenerative, neurodevelopmental and oncological diseases. Today, this scientific programme has led to the creation of a Centre for Personalised, Preventive, Predictive Medicine – CMP3VdA – in this small region in the mountains: but how much do the population of the Aosta Valley actually know about these subjects? Which are the best means of communication capable of transferring a complex scientific concept to the public?

In order to answer these questions, an initial exploration of the target population’s knowledge of the scientific themes developed by5000genomi@VdA was performed by means of a qualitative, anonymous questionnaire conducted in face-to-face mode. The results deriving from the answers from the 100 respondents will be presented in a ‘video abstract’ at the National Conference in Science Communication (from 17 to 20 November 2021), organised by the Scuola Internazionale Superiore di Studi Avanzati (SISSA, Higher International School for Advanced Studies) in Trieste.

The participants in the study were identified during public events that were all very different, but that shared the characteristic of being addressed to people who were interested in, or intrigued by, science: the event giocAosta (Aosta, 6-9 August 2020) and the evenings and events of scientific popularisation in the area of astronomy organised by the Astronomical Observatory of the Autonomous Region of the Aosta Valley (Saint-Barthélemy, 26-27 August 2020 and 19 September 2020). The people most willing to answer the questions were generally women (57%), aged between 20 and 50 in 79% of the cases. About 40% of the total answers came from people living in the Aosta Valley, while 45% comprised tourists mainly from neighbouring regions, in north-western Italy (26%) and central-northern Italy (19%). As regards their level of education, 54% had a non-scientific (humanistic/economic studies) background, 37% had studied scientific subjects, and the remaining 9% of respondents were highly qualified (PhD) or had minimal specialist education (lower secondary school diploma).

The media considered most suitable for transferring complex scientific information were then identified, allowing some initial important considerations to be made. First of all, there was an indication of a clear preference for the use of audio-visual materials when finding out about these topics: in an initial survey, 41% said they used TV, while 72% later confirmed that they liked short informative videos (mainly via YouTube). Another fact that emerged was the need to implement knowledge on specific topics such as, for example, ‘personalised medicine’, a subject that only 33% of respondents correctly understood, in situations in which discussions amongst several individuals are possible. In fact, the organisation of events or structured conferences designed to provide information to the general public was appreciated, giving the audience the chance for active participation and enabling people to learn more about topical health issues of notable public interest (35%). In general, it was also found that, in the pre-pandemic situation, people were unaccustomed to approaching communication on scientific subjects: 42% of respondents stated that they rarely heard about health-related scientific topics (25% ‘once a week’ and 17% ‘almost never’).

Considering the disruptive effect of digital communications today, a strong scepticism and lack of confidence in the use of social networks as a means of information emerged. Compared to 74% of people who preferred the web (websites and blogs) as a source of in-depth information, only 30% of users said that they used social networks to search for news related to the scientific-health field, confirming that they have little confidence in these tools, defined and perceived as ‘unreliable’ and with little possibility of verifying the sources (‘fake news).

People’s degree of familiarity with the study of DNA and genomics was then examined: the topic seemed to be considered ‘very contemporary’ in 40% of responses and was perceived as having ‘a great impact on everyday life’ in 64% of cases, although, when going into greater detail with the respondents, 49% of the people said they had minimal or confused knowledge on the subject.

To the final question ‘Would you be willing to have your DNA analysed for the early detection of disease?’ those who answered negatively (12%) were generally little inclined to interaction and were less receptive than those who answered positively. The study in fact revealed a strong emotional and personal component in this specific aspect of decisions regarding individual health. The attitude thus determined is of great importance in terms of designing the activities for communication and information destined for the public and targeted at the acquisition of suitable tools making it possible to take informed decisions on complex scientific-health issues.

These results made it possible to create a real-time overview of the knowledge, perceptions and information habits of the potential target audience for the 5000genomi@VdA Project and to make a preliminary estimate of the principal requirements, in terms of communications on the themes of genomics, the study of DNA and personalised medicine, for the Aosta Valley population.

*FSE research scholar, Communications for the 5000genomi@VdA Project