Abstract
Advancements in genomics have significant implications for public health, making citizens’ education vital for informed decision-making. Based on two literature reviews’ findings and a survey conducted with experts from the Italian Network of Genomics in Public Health, we conducted a pilot survey on Italian citizens’ attitudes, knowledge and educational needs toward genetic testing and omics sciences. Our results demonstrate a widespread interest in genetic testing and uncertainties regarding associated risks, with 99% of participants acknowledging insufficient knowledge of genetic testing. There is an urgent need for educational tools to improve citizens’ literacy and engagement in this rapidly evolving field.
Introduction
The omics revolution encompassed diverse scientific disciplines, making omics sciences such as genomics, transcriptomics, proteomics, metabolomics, microbiomics and nutribiomics, increasingly relevant and resulting in a surge in knowledge and availability of accessible technologies like next-generation sequencing. These were pivotal in developing novel diagnostic tests, discovering new biomarkers and drugs, and advancing personalized medicine.1
Public health genomics’ implementation in European healthcare systems is limited despite some countries adopting targeted health policies.2 Italy is a frontrunner, incorporating precision health as a dedicated pillar in National Prevention Plans since 2010, publishing the first-ever Guidelines on Genomics in Public Health in 2013,3 and being among the first 13 countries to sign the Declaration of Cooperation ‘Towards access to at least 1 million sequenced genomes in the European Union by 2022’.4 In 2017, the Italian National Innovation Plan of the Healthcare System5 recognized the need for educational initiatives targeting professionals, citizens, and decision-makers to integrate omics sciences into healthcare. The Italian Ministry of Health funded several projects, including a collaborative survey with a civic organization. This pilot survey is the first in Italy evaluating citizens’ attitudes, knowledge and educational requirements in the omics sciences field; the findings are presented in this paper.
Methods
Based on the findings from two literature reviews1,6 and a survey conducted with experts from the Italian Network of Genomics in Public Health (GENISAP),7 we designed a questionnaire evaluating existing knowledge and awareness among Italian citizens regarding genetic testing and omics sciences.
The survey consisted of 57 questions divided into three sections: ‘Personal knowledge of omics sciences’, ‘Attitudes’ and ‘Educational needs’. The questionnaire and a brief description of the project were disseminated on the channels of CittadinanzAttiva, a citizen activism organization, from 29 October 2020 to 15 April 2021. A total of 359 participants were recruited, and all completed the survey.
Determinants of personal knowledge and attitudes were assessed using two multivariable logistic regression models. The variables ‘knowledge’ and ‘attitudes’ were categorized into two levels, with respondents classified as having knowledge or attitudes if they provided appropriate responses to at least 50% of the questions (e.g. ‘reporting knowledge of personalized medicine’, ‘being informed about genetic testing’). Those who could not provide an answer or judgment were classified as having ‘no knowledge’ or ‘no positive attitude’. The covariates included age, gender, personal or family history of a genetic disease, education level and genetics education at school and/or university. Multivariable logistic regression models were built using the strategy suggested by Hosmer and Lemeshow.8 The univariable analysis examined each variable and included it in the multivariable logistic model when P values < 0.15. Independent variables’ influence on each investigated binary outcome was expressed as adjusted odds ratios (OR) and 95% confidence interval (CI).
Statistical significance was set at P values < 0.05. The statistical analysis was performed using the STATA 16.0 software. The Ethics Committee of Fondazione Policlinico Gemelli approved this survey under ID 3504.
Results
Demographic and general information
All 359 citizens completed the survey. Results are reported in Table 1. The participants’ mean age was 46 (SD = 16), and 65.2% were female. Most held a university degree (42.9%) or higher education level (22.3%). Regarding personal or family history, most respondents reported no genetic disorders (97.5%, 75.5%). Around 34% of participants studied genetics in school, while 17% studied genetics in university.
Table 1.
Survey questions and public responses on knowledge, awareness and educational needs on genetic testing and omics sciences
| Demographic and general information (N = 359) | ||
|---|---|---|
| n | % | |
| Gender | ||
| Female | 234 | 65.2 |
| Male | 125 | 34.8 |
| Age (years) | Mean = 46 | SD = 16 |
| Educational degree | ||
| Compulsory school or lower level | 125 | 34.8 |
| University degree | 154 | 42.9 |
| Postgraduate training | 80 | 22.3 |
| Have you ever formally studied genetics at school?a | 123 | 34.3 |
| Have you ever formally studied genetics at university?a | 61 | 17.0 |
| Do you have relatives (or friends) who are carriers of a genetic disease?a | 88 | 24.5 |
| Are you a carrier of a genetic disease?a | 9 | 2.5 |
| Are you suffering from a chronic disease?a | 51 | 14.2 |
|
Knowledge (N = 359)
| ||
|---|---|---|
| n | % | |
| Do you know what chronic diseases, also called multifactorial ones, are?a | 244 | 68.0 |
| Are you informed about the possibilities of using genetic testing to prevent disease?a | 234 | 65.2 |
| Are you informed about the possibilities of using genetic testing to treat a disease?a | 253 | 70.5 |
| Are you informed about the possibility of being diagnosed with a DNA test?a | 262 | 73.0 |
| Indicate which of the following genetic testing applications you have heard ofa | ||
| Determination of the risk or likelihood of contracting a particular disease | 262 | 73.0 |
| Determination of the treatment of the disease after diagnosis | 191 | 53.2 |
| Determination of the efficacy of drugs in an individual | 198 | 55.2 |
| Determination of the probability of transmitting on a hereditary disease to children | 306 | 85.2 |
| Have you ever heard of gene therapy?a | 221 | 61.6 |
| Have you ever heard of personalized medicine and/or precision medicine?a | 200 | 55.7 |
| Have you ever heard of omics sciences?a | 95 | 26.5 |
| Have you ever heard of direct-to-consumer genetic testing (DTC-GT)?a | 120 | 33.4 |
|
Attitudes (N = 359)
| ||
|---|---|---|
| n | % | |
| Where there are effective tools to prevent certain diseases in a targeted way, would you like to know your risk of contracting them? | ||
| Yes | 286 | 79.7 |
| No | 17 | 4.7 |
| I don’t know | 56 | 15.6 |
| Would you undergo a DTC genetic test? | ||
| No | 37 | 10.3 |
| I don’t know what they are | 144 | 40.1 |
| Yes | 147 | 41.0 |
| Yes but only if free | 31 | 8.6 |
| How much do you agree with the statement ‘doctors should be involved in prescribing tests and explaining the results of genetic tests’? | ||
| Agree | 302 | 84.1 |
| Disagree | 3 | 0.8 |
| Neither agree nor disagree | 54 | 15.1 |
| Would your lifestyle change according to the results of a genetic test?a | 318 | 88.6 |
| In which cases would you like to know the results of a genetic/omic test you have undergone? | ||
| Never | 4 | 1.1 |
| Always | 273 | 76.0 |
| Only in case of treatable illnesses | 22 | 6.1 |
| Only in case of serious illnesses | 21 | 5.9 |
| Only in case of serious illnesses but treatable at the same time | 39 | 10.9 |
| If you are undergoing a genetic/omic test, would you like to know the risk of disease for your family members and the risk of having passed on the predisposition for a disease to your children?a | 342 | 95.3 |
| Would you share genetic test results for research purposes? | ||
| Yes | 308 | 85.8 |
| No | 10 | 2.8 |
| I don’t know | 41 | 11.4 |
| Would you participate in genomic research studies?a | 267 | 74.4 |
| Do you think the privacy of individuals participating in genomic studies is adequately protected? | ||
| Yes | 102 | 28.4 |
| No | 25 | 7.0 |
| I don’t know | 232 | 64.6 |
| Do you agree with the statement ‘all women planning a pregnancy must be tested for genetic risk’? | ||
| Agree | 188 | 52.4 |
| Disagree | 43 | 12.0 |
| Neither agree nor disagree | 128 | 35.6 |
|
Educational needs (N = 359)
| ||
|---|---|---|
| n | % | |
| Do you think citizens are adequately informed about the omics sciences?a | 5 | 1.4 |
| Do you think there is a need for more training/information initiatives on omics sciences aimed at citizens?a | 343 | 95.5 |
| Do you think citizens are adequately informed about DTC-GTs?a | 13 | 3.6 |
| Do you think there is a need for more training/information initiatives on genetic tests and DTC-GT aimed at citizens?a | 341 | 95.0 |
|
Predictors of knowledge of the omics sciences
| ||
|---|---|---|
| Explanatory variable | OR (95% CI) | P-value |
| Age (years) | 0.99 (0.98–1.01) | 0.48 |
| Gender, Female | 1.00 (0.61–1.65) | 0.99 |
| Education degree (ref. Compulsory school or lower level) | ||
| University degree | 4.31 (2.46–7.53) | <0.0001 |
| Postgraduate training | 1.99 (1.04–3.80) | 0.037 |
| Italy: region of origin (ref. South) | ||
| Central | 1.63 (0.88–3.03) | 0.12 |
| North | 1.06 (0.55–2.03) | 0.87 |
| Genetics training at school and/or university | 1.95 (1.19–3.18) | 0.008 |
| Carrier of a genetic disease and/or with relatives (or friends) who are carriers of a genetic disease | 3.67 (2.09–6.46) | <0.0001 |
| Carrier of a chronic disease | 1.14 (0.58–2.25) | 0.71 |
|
Predictors of positive attitudes toward the omics sciences
| ||
|---|---|---|
| Explanatory variable | OR (95% CI) | P-value |
| Age (years) | 1.02 (1.01–1.04) | 0.003 |
| Gender, Female | 1.76 (1.08–2.85) | 0.023 |
| Education degree (ref. Compulsory school or lower level) | ||
| University degree | 2.51 (1.49–4.21) | 0.001 |
| Postgraduate training | 4.21 (2.19–8.09) | <0.0001 |
| Italy: region of origin (ref. South) | ||
| Central | 0.57 (0.31–1.05) | 0.071 |
| North | 0.78 (0.41–1.47) | 0.44 |
| Genetics training at school and/or university | 1.58 (0.96–2.60) | 0.069 |
| Carrier of a genetic disease and/or with relatives (or friends) who are carriers of a genetic disease | 0.98 (0.58–1.67) | 0.94 |
| Carrier of a chronic disease | 1.11 (0.57–2.15) | 0.75 |
total number of respondents who answered “Yes”.
Knowledge, attitudes and educational needs
More than half of the respondents had heard about personalized medicine (55.7%); most were unaware of omics sciences (73.5%), while 33.4% had heard about direct-to-consumer-genetic-testing (DTC-GT) (see Table 1). Respondents were informed about the use of genetic knowledge to prevent diseases (65.2%), treat diseases (70.5%), and be diagnosed with DNA testing (73.0%). Additionally, 61.6% of respondents had heard about gene therapy.
If effective prevention tools were available, 79.7% of participants expressed interest in knowing their disease risk, and 49.6% would consider undergoing DTC-GT. That physicians should be involved in prescribing genetic tests and explaining the results were agreed by 84.1%.
After undergoing genetic testing, most respondents would always like to be informed of the results (76.0%) or only if pathologic findings are present (22.9%). Also, 95.3% would like to know their family members’ disease risk and the risk of passing on disease predisposition to their children. Additionally, 88.6% reported being willing to make lifestyle changes based on the results of a genetic test. Fewer respondents (52.4%) agreed that all women planning a pregnancy should be tested for genetic risk, with many undecided (35.6%). On privacy, 85.8% would share their genetic test results for research purposes, but 64.6% were unsure whether the privacy of individuals participating in genomics studies is adequately protected.
Almost all (98.6%) agreed that citizens are not adequately informed about omics sciences and DTC-GT, emphasizing the need for more training and information initiatives.
Multivariable analysis
Factors associated with knowledge of genetic testing and omics sciences included education level higher than compulsory schooling [university degree—OR 4.31 (2.46–7.53), P < 0.0001; postgraduate training—1.99 (1.04–3.80), P < 0.037], genetics training in school and/or university [OR 1.95 (1.19–3.18), P = 0.008] and being a carrier of a genetic disease and/or having relatives (or friends) who are carriers [OR 3.67 (2.09–6.46), P < 0.0001].
A positive attitude toward omics sciences was associated with age [OR 1.02 (1.01–1.04) P = 0.003], female gender [OR 1.76 (1.08–2.85), P = 0.023] and an education degree higher than compulsory school [university degree—OR 2.51 (1.49–4.21), P = 0.001; postgraduate training—OR 4.21 (2.19–8.09), <0.0001]. There was also a positive, borderline non-significant association with receiving genetics training in school and/or university [OR 1.58 (0.96–2.60), P = 0.069].
Discussion
Our survey explored the Italian public’s knowledge, attitudes and educational needs with regards to genetic testing and omics sciences. Participants have low perceived knowledge, suggesting more educational efforts; they recognize the potential benefits of genetics in disease prevention, diagnosis and treatment.
Participants demonstrated favorable attitudes toward genetic testing and omics sciences. Most wanted to understand their disease risk if effective preventive measures were accessible; slightly less than half indicated a willingness to undergo DTC-GT. Most participants agreed that healthcare professionals should be involved in genetic test recommendation and results interpretation. Nearly all wanted to learn about their family members’ disease risks and potential transmission of predispositions to their children. Most were willing to make lifestyle changes following genetic testing results.
Privacy and data protection emerged as significant concerns. Most respondents were willing to share their genetic test results for research purposes, and over half expressed uncertainty about the adequacy of privacy protections for individuals participating in genomics studies.
Almost all respondents concurred that more public awareness regarding omics sciences and DTC-GT is needed, emphasizing training and information initiatives to educate the public.
Respondents strongly agreed on the need for accessible and reliable information. In addition, the highly educated showed more positive attitudes toward omics sciences.
Our survey’s results show citizens have a positive attitude toward omics sciences and genetic testing, reporting the need for more educational initiatives; these are in line with the findings of our prior systematic review1 and international literature.9,10 However, sample size could impair the possibility of drawing generalized conclusions, and high representation of highly educated participants may impact responses, e.g. on knowledge and awareness. We are conducting a second survey in eight European countries (Italy, the Netherlands, France, Germany, Spain, Hungary, Romania and Poland) for more complete data.
Omics sciences’ advancements have far-reaching implications for public health, highlighting the need for a strategic approach to promote and govern this disruptive innovation. Educating citizens becomes essential in enabling them to make informed decisions regarding their health.
Acknowledgements
We thank the Italian Ministry of Health for supporting the activities of the National Center for Disease Prevention and Control (CCM) projects related to genomics and omics sciences.
Contributor Information
Giovanna Elisa Calabrò, Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
Francesco Andrea Causio, Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
Denise Pires Marafon, Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
Michele Sassano, Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Francesca Moccia, CittadinanzAttiva, Rome, Italy.
Roberta Pastorino, Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Stefania Boccia, Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Funding
This study was funded by the National Center for Disease Prevention and Control (CCM), Italian Ministry of Health (CCM2021, CUP B85F21004970001).
Conflicts of interest: None declared.
Data availability
The data underlying this article will be shared on reasonable request to the corresponding author.
Key points.
This survey addressed to Italian citizens demonstrated a widespread interest in genetic testing and its potential to improve health outcomes, with over half of the respondents being aware of possible uses of genetic testing. However, uncertainties regarding its risks prevail, with over 80% of respondents indicating that doctors should be involved in prescribing tests and explaining the results of genetic tests.
Respondents (98.4%) indicated they were not adequately informed about omics sciences and 95.5% expressed the need for more training initiatives for citizens. These results are informative because the appropriate and conscious utilization of new omics technologies and services by citizens requires correct information of users, regarding not only genetic testing, but also omics sciences and their possibilities and limitations.
Based on our findings, we argue that citizens will be more receptive to adopting new behaviors and practices and contribute to the realization of precision health only if educational, socioeconomic and cultural hurdles are correctly addressed.
References
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Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
The data underlying this article will be shared on reasonable request to the corresponding author.
Key points.
This survey addressed to Italian citizens demonstrated a widespread interest in genetic testing and its potential to improve health outcomes, with over half of the respondents being aware of possible uses of genetic testing. However, uncertainties regarding its risks prevail, with over 80% of respondents indicating that doctors should be involved in prescribing tests and explaining the results of genetic tests.
Respondents (98.4%) indicated they were not adequately informed about omics sciences and 95.5% expressed the need for more training initiatives for citizens. These results are informative because the appropriate and conscious utilization of new omics technologies and services by citizens requires correct information of users, regarding not only genetic testing, but also omics sciences and their possibilities and limitations.
Based on our findings, we argue that citizens will be more receptive to adopting new behaviors and practices and contribute to the realization of precision health only if educational, socioeconomic and cultural hurdles are correctly addressed.