Table 1.
Studies included in the systematic literature review and their main characteristics.
| References | Country | Initiative funder/promoter/supporter | Aims and methods | Target population | Age |
|---|---|---|---|---|---|
| Fomous et al. (2006) | USA | University | Improvement of understanding about genomics and implications of the Human Genome Project on public health through an institutional portal called “Genetics Home Reference” (GHR) (http://ghr.nlm.nih.gov/) | General population | – |
| Henneman et al. (2006) | Netherlands | University | Assessment of attitudes toward availability and use of genetic tests through a questionnaire | General population (N = 817) | Males: mean: 57.6 years, range: 27–90 years Females: mean: 50.9 years, range: 25-93 years |
| Skirton et al. (2006) | UK | University | Assessment of the understanding of genetics and of attitudes toward genetic tests for clinical and research purposes, through 2 focus groups lasting 1.5–2 h each | Older adults (N = 7 e 10 in 2 focus groups) | ≥65 years (68–90 years in group 1; 68–82 years in group 2) |
| Calsbeek et al. (2007) | Netherlands | Panel of Patients with Chronic Diseases is supported by ministerial funding | Assessment of genetic knowledge, attitudes toward genetic tests, and their relations and changes over time, through postal questionnaires administered in 2002 and 2004 | Patients with asthma, diabetes mellitus and cardiovascular disease (1st survey−2002 N = 577; 2nd survey−2004 N = 398) | ≥15 years |
| Goddard et al. (2007) | USA | Partially supported by Centers Disease Control and Prevention and by American Society of Human Genetics in Public Health Genomics Research and Practice | Assessment of awareness regarding nutrigenomics DTC tests through questionnaire | General population (N = 5250) | ≥18 years |
| Morren et al. (2007) | Netherlands | University | Assessment of knowledge and attitudes regarding genetics and genetic tests through a postal questionnaire | Individuals with chronic diseases (N = 1496) | ≥15 years |
| Ishiyama et al. (2008) | Japan | Supported by KAKENHI (research grant) by the Ministry of Education, Culture, Sports, Science, and Technology of Japan | Assessment of attitudes toward the promotion of genomics studies and relation between attitudes and the level of genomics literacy through a postal questionnaire | General population (N = 2171) | 20–69 years |
| Goddard et al. (2009) | USA | State health departments, Behavioral Risk Factor Surveillance Systems (BRFSS) | Assessment of knowledge and use of nutrigenomics DTC tests through questionnaire | General population (Oregon N = 1867; Michigan N = 5499; Utah N = 2441; national N = 5250) |
– |
| Makeeva et al. (2009) | Russia | Partly supported by Russian Foundation for Basic Research and SB RAMS Medical Genetics Research Institute | Assessment of attitudes and beliefs toward genetic tests and genetic research through questionnaire | General population (N = 2000) | <24 years: 27.4% 25–39 years: 43.2% 40–64 years: 27.9% ≥65 years: 1.5% |
| Molster et al. (2009) | Australia | Office of Population Health Genomics, Health Policy and Clinical Reform Division, Department of Health | Assessment of knowledge regarding human genetics and health by telephone survey | General population (N = 1009) | ≥18 years |
| Morin (2009) | Canada | University | Assessment of knowledge and attitudes regarding nutrigenomics and nutrigenetic tests, through 12 focus groups lasting 2 h each preceded by a short questionnaire | General population (N = more than 90) | – |
| Stewart-Knox et al. (2009) | France, Italy, UK, Portugal, Poland, Germany | University | Assessment of attitudes toward genetic and nutrigenomics tests and personalized nutrition through a survey | General population (N = 5967) | ≥14 years |
| Gleason et al. (2010) | USA | Course funded by Grant by U.S. Department of Education and GCSU Science Education Center | Improvement of genetic knowledge and awareness about ethical, legal, and social implications (ELSI) of Human Genome Project through an interdisciplinary course | Teachers (biology teachers N = 8; English teachers N = 8) | – |
| Hahn et al. (2010) | USA | University | Assessment of awareness and perceptions regarding genomics medicine and preferences related to educational strategies and contents through 13 focus groups lasting 1 h each | General population (N = 121) | – |
| Lemke et al. (2010) | USA | Funded by National Human Genome Research Institute | Assessment of attitudes and perceptions regarding collection and sharing of genetic research data, through 6 focus groups lasting 1–2 h each | General population (N = 28) and NUgene (biobank) participants (N = 21) | ≥18 years |
| Sturgis et al. (2010) | UK | – | Assessment of the effect of information provided by a short film (extended version of 9 min and short version of 5 min and 40 s) on opinions regarding genomics through a survey | General population (1st phase N = 3270; 2nd phase N = 867; 3rd phase N = 458) | – |
| Mai et al. (2011) | Greece | Partially funded by Golden Helix Institute of Biomedical Research and research budget of the University of Patras | Assessment of awareness and perceptions regarding issues related to genetics, genetic tests, and their impact on society through a survey | General population (N = 1717) | ≥18 years |
| Smerecnik et al. (2011) | Netherlands | University | Assessment of knowledge about genetic risk factors of multifactorial diseases through online questionnaire | General population (N = 1624) | ≥20 years |
| Dijkstra et al. (2012) | Netherlands | Financially supported by the Dutch Research Organization, in particular by the Societal and Ethical Aspects of Genomics program | Assessment of participation and attitudes toward genomics research and related problems through online survey | General population (N = 986), members of the public with experience in genomics research as patients (N = 41), patients with celiac disease (N = 68), experts (N = 45). | 18–65 years |
| East et al. (2012) | USA | HudsonAlpha faculty | Improvement of genomics literacy through a short course (three editions), with assessment of learning through pre- and post-course tests | General population (1st course N = 110; 2nd course N = 86; 3rd course N = 196; Total N = 392) |
<20 years: 1.8% 21–30 years: 2.5% 31–40 years: 4.6% 41–50 years: 12.9% 51–60 years: 18.6% >60 years: 59.6% |
| Kaphingst et al. (2012) | USA | Supported by Intramural Research Program del National Human Genome Research Institute, National Institutes of Health | Assessment of knowledge about genome sequencing and of the influence of informed consent process on them (discussion with a geneticist lasting 60–90 min) through pre- and post-discussion questionnaires | ClinSeq™ participants (sequencing study) (N = 311) | – |
| Kolor et al. (2012) | USA | Lifestyle surveillance system | Assessment of awareness and use of DTC genetic tests through telephone survey | General population (Connecticut N = 6019; Michigan N = 5883; Oregon N = 1931; Utah N = 2606; national N = 5399) | ≥18 years |
| Nielsen and El-Sohemy (2012) | Canada | University | Assessment of awareness, perceptions, and understanding of nutrigenomics and genetic tests through a questionnaire, and of the influence of personalized dietary advice based on the genotype on participants' opinions through a randomized trial | Toronto Nutrigenomics and Health Study (N = 149) | 20–35 years |
| Bombard et al. (2013) | Canada | University-government research collaboration | Assessment of perspectives about ethical and social issues raised by personalized medicine and genetic tests through meetings preceded by an expert explanation | Citizens panel (N = 14) | 18–71 years |
| Haga et al. (2013) | USA | University | Assessment of knowledge, attitudes, and expectations on health, genetics, and genetic tests, and of understanding and perceptions of genomic risk for Type 2 Diabetes Mellitus through 3 questionnaires | General population (N = 300) | ≥18 years |
| Henneman et al. (2013) | Netherlands | Financially supported by Netherlands Genomics Initiative | Assessment of experiences, beliefs, and expectations regarding genetic tests over the years through surveys administered in 2002 and 2010 | Consumers panel (2002 survey N = 817; 2010 survey N = 978) | 25–90 years in 2002; 21–91 years in 2010 |
| Nicholls et al. (2013) | Canada | University | Assessment of the usefulness perception of genomics applied to cancer and neonatal screening, through 8 workshops/seminars | General population (N = 170) | 27–88 years |
| Almeling (2014) | USA | University | Assessment of opinions regarding policy issues in genetics and genomics through online survey, in which each participant was asked to respond imagining that he had an increased genetic risk for a specific disease | General population (N = 2100) | – |
| Borzekowski et al. (2014) | USA | University | Assessment of public reaction to the history of Angelina Jolie's preventive mastectomy and of the knowledge about breast cancer risk in carriers of mutations of the BRCA gene through online survey | General population (N = 2572) | ≥18 years |
| Vermeulen et al. (2014) | Netherlands | University | Assessment of attitudes and interests toward genetic tests, in particular for prevention of chronic diseases, through a questionnaire | General population (N = 978) | ≥18 years Mean: 59.1 years Range: 18–91 years |
| Waters et al. (2014) | USA | University | Assessment, through questionnaire, of: -attitudes in searching for information about chronic diseases and cancer -level of knowledge about their multifactorial etiopathogenesis and the role of genetic factors -relations between attitudes and knowledge | General population (N = 3630) | ≥18 years |
| Abrams et al. (2015) | USA | Funded by Intramural Research Program of National Human Genome Research Institute | Assessment of literacy on genetics, genomics, and genetic tests through electronic questionnaires | Consumers panel representative of the adult population (N = 1016) | ≥18 years |
| Dodson et al. (2015) | USA | University | Assessment of interest in whole-genome sequencing (WGS) through online survey, with specific questions for parents regarding their children | General population (parents and not) (N = 2144) | 18–94 years |
| Etchegary et al. (2015) | Canada | University | Assessment of attitudes and expectations regarding genomics research through meetings (5 meetings lasting 1.5 h each) in which slides were shown to stimulate discussion | General population (N = 33) | ≥18 years |
| Graves et al. (2015) | USA | Funded by Mayo Clinic Center for Individualized Medicine | Assessment, through online survey, of perceptions and attitudes regarding disease actionability and severity, and of experience and interest in knowing results of genetic tests | General population (N = 900) | 18–70 years |
| Kaphingst et al. (2015) | USA | University | Assessment, through questionnaire, of effects of the type of risk assessment carried out (family history assessment or genetic test results), the type of disease (cardiovascular disease or diabetes), and ethnicity on the attitudes regarding the genetic risk for complex diseases and genetic testing | Medically underserved population (N = 1,057 females) | – |
| Mavroidopoulou et al. (2015) | Greece | University | Assessment of awareness, interest, motivation, and understanding of DTC genetic tests through questionnaire | University students, postgraduates and doctoral students (N = 725) | – |
| Kaphingst et al. (2016) | USA | University | Assessment, through survey, of the association between health literacy and knowledge, perceived importance, and attitudes on the communication of genetics, family history and genome sequencing | Medically underserved population (N = 624) | ≥18 years |
| Mählmann et al. (2016) | Switzerland | University | Assessment, through a questionnaire, of attitudes toward personal genomics and genetic tests, after the view of a movie on the topic | Older adults attending university for the elderly (N = 151) | 60–89 years |
| McCormack et al. (2016) | Europe | Supported by Medical Research Council UK and European Union Seventh Framework Programme | Assessment of attitudes regarding participation in genomics research, large-scale international databases, and sharing of biological samples, through 5 focus groups lasting 1–1.5 h each | Patients with rare diseases (N = 52) | – |
| Miyamoto et al. (2016) | Japan | University | Assessment of experiences and attitudes toward genomics and an ongoing genomic cohort study, through a postal questionnaire | General population (N = 1477) | 30–69 years |
| Schmidlen et al. (2016) | USA | University | Assessment of knowledge on the association between genetic risk and complex diseases and between drug response and genetic susceptibility, through online questionnaire | General population (N = 2839), patients with prostate or breast cancer (N = 82), patients with hypertension or congestive heart failure (N = 201), medical and administrative staff (N = 940). | >18 years |
| Simonstein and Mashiach-Eizenberg (2016) | Israel | University | Assessment, through questionnaire, of attitudes toward genetic technologies, and their correlation with the understanding of genetics, reproduction and reproductive risk | Israeli Arabs and Jews (N = 203) | ≥19 years |
| Waters et al. (2016) | USA | University | Assessment, through questionnaire, of attitudes in searching for information about cancer, of knowledge on its multifactorial etiopathogenesis and on the role of genetic factors, and of relation between attitudes and knowledge | General population (N = 2529) | ≥18 years |
| Ahmed et al. (2017) | USA | – | Improvement of scientific and genetic literacy through Science Cafés held by experts | General population (Total N = 457; Health Science Cafés N = 248; Genomics Science Cafés N = 209) | 19–39 years: 20.2% 40–59 years: 32% ≥60 years: 47.9% |
| Krakow et al. (2017) | USA | Government | Assessment, through survey, of knowledge and awareness of genetics, and of use of genetic tests | General population (N = 3285) | ≥19 years |
| Waters et al. (2017) | USA | University | Identification of gaps in understanding and acceptance of research and genomics information through 13 focus groups, lasting 1–1.5 h each, during which a video with genetic information was shown and then participants were asked to discuss it | African American and white smokers (N = 84) | ≥18 years |
| Fournier and Poulain (2018) | France | University | Assessment of knowledge and reactions toward nutritional genomics and epigenomics, food practices, food-health relation through 3 focus groups, lasting 2.5 h each | General population (N = 22) | Mean: 43 years 20–29 years: 9.1%; 30–39 years: 31.8%; 40–49 years: 31.8%; 50–59 years: 18.2%; ≥60 years: 9.1% |
| Metcalfe et al. (2018) | Australia | University | Assessment, through focus groups, of awareness, knowledge, attitudes and opinions regarding personal genetic tests | General population (N = 56) | ≥18 years |
| Horrow et al. (2019) | USA | Supported by a grant of the National Human Genome Research Institute and the Mayo Clinic Center for Individualized Medicine | Development of a scale to evaluate attitudes about the future of genomics medicine (questionnaire) | Participants in a genomic sequencing study (N = 2895) | 26–71 years |
| Jones et al. (2019) | UK | Funded by the UK Medical Research Council | Assessment, through a series of 8 public workshops and a questionnaire, of public views on access models for reusing genomics data collected for research in conjunction with health data | College students, university staff and students, business professionals, general public consumer panel, science festival attendees, health professionals, and University of Third Age members (N = 116) | 16–25 years: 18.9%; 26–35 years: 31.8%; 36–45 years: 15.5%; 46–55 years: 9.4%; 56–65 years: 6.8%; >65 years: 17.2% |
| Pereira et al. (2019) | Korea, Canada, USA | Funded by National Institutes of Health (NIH)/National Heart, Lung, and Blood Institute (NHLBI) grant | Assessment of perceptions toward pharmacogenetic testing of patients undergoing percutaneous coronary intervention through a questionnaire (pre and post coronary intervention) | Patients undergoing percutaneous coronary intervention (Baseline survey: N = 1,327 Follow-up survey: N = 860) | Mean: 62.8 years ≤ 55 years: 27%; 56–65 years: 32%; 66–75 years: 27%; >75 years: 14% |
| Rebitschek et al. (2019) | Germany | Funded by the European Commission and supported by The Eve Appeal | Assessment, through 4 focus groups, of what women want to know about epigenetic cancer risk assessment, how they evaluate its usefulness, and how they would like to be informed about their risk | General population, women only (N = 25) | 30–65 years |
| Middleton et al. (2020) | USA, UK, Canada, Australia | Supported by Well-come grant to the Society and Ethics Research Group, Connecting Science, Well-come Genome Campus, Cambridge, UK. Also supported by Global Alliance for Genomics and Health | Assessment, though a survey, of public perceptions of genomics data sharing | General population (N = 8,967) | ≤ 30 years: 23.3%; 31–40 years: 22.8%; 41–50 years: 17.5%; 51–60 years: 17.7%; >60 years: 18.6% |