Public Views on Models for Accessing Genomic and Health Data for Research: Mixed Methods Study

Abstract

Background The literature abounds with increasing numbers of research studies using genomic data in combination with health data (eg, health records and phenotypic and lifestyle data), with great potential for large-scale research and precision medicine. However, concerns have been raised about social acceptability and risks posed for individuals and their kin. Although there has been public engagement on various aspects of this topic, there is a lack of information about public views on data access models. Objective This study aimed to address the lack of information on the social acceptability of access models for reusing genomic data collected for research in conjunction with health data. Models considered were open web-based access, released externally to researchers, and access within a data safe haven. Methods Views were ascertained using a series of 8 public workshops (N=116). The workshops included an explanation of benefits and risks in using genomic data with health data, a facilitated discussion, and an exit questionnaire. The resulting quantitative data were analyzed using descriptive and inferential statistics, and the qualitative data were analyzed for emerging themes. Results Respondents placed a high value on the reuse of genomic data but raised concerns including data misuse, information governance, and discrimination. They showed a preference for giving consent and use of data within a safe haven over external release or open access. Perceived risks with open access included data being used by unscrupulous parties, with external release included data security, and with safe havens included the need for robust safeguards. Conclusions This is the first known study exploring public views of access models for reusing anonymized genomic and health data in research. It indicated that people are generally amenable but prefer data safe havens because of perceived sensitivities. We recommend that public views be incorporated into guidance on models for the reuse of genomic and health data.

Citizens' Attitudes, Knowledge, and Educational Needs in the Field of Omics Sciences: A Systematic Literature Review

“…Regarding the target population, most of studies (76%) addressed samples representative of the general population (Fomous et al, 2006;Henneman et al, 2006Henneman et al, , 2013Goddard et al, 2007Goddard et al, , 2009Ishiyama et al, 2008;Makeeva et al, 2009;Molster et al, 2009;Morin, 2009;Stewart-Knox et al, 2009;Hahn et al, 2010;Lemke et al, 2010;Sturgis et al, 2010;Mai et al, 2011;Smerecnik et al, 2011;Dijkstra et al, 2012;East et al, 2012;Kolor et al, 2012;Nielsen and El-Sohemy, 2012;Bombard et al, 2013;Haga et al, 2013;Nicholls et al, 2013;Almeling, 2014;Borzekowski et al, 2014;Vermeulen et al, 2014;Waters et al, 2014Waters et al, , 2016Abrams et al, 2015;Dodson et al, 2015;Etchegary et al, 2015;Graves et al, 2015;Miyamoto et al, 2016;Schmidlen et al, 2016;Simonstein and Mashiach-Eizenberg, 2016;Ahmed et al, 2017;Krakow et al, 2017;Fournier and Poulain, 2018;Metcalfe et al, 2018;Jones et al, 2019;Rebitschek et al, 2019;…”

“…Among studies investigating citizens' knowledge, 31% (n = 12) aimed to evaluate knowledge on basic concepts in genetics among the general population (Fomous et al, 2006;Skirton et al, 2006;Calsbeek et al, 2007;Ishiyama et al, 2008;Molster et al, 2009;Sturgis et al, 2010;Mai et al, 2011;East et al, 2012;Abrams et al, 2015;Miyamoto et al, 2016;Simonstein and Mashiach-Eizenberg, 2016;Jones et al, 2019) (Table 2). More than half of the identified studies (72%, n = 28), instead, investigated knowledge of the population on genetic and/or genomics tests (Henneman et al, 2006(Henneman et al, , 2013Skirton et al, 2006;…”

“…Study participants had, in most cases (64%, n = 25), a limited knowledge level regarding the abovementioned topics (Skirton et al, 2006;Calsbeek et al, 2007;Goddard et al, 2007Goddard et al, , 2009Morren et al, 2007;Ishiyama et al, 2008;Molster et al, 2009;Morin, 2009;Gleason et al, 2010;Hahn et al, 2010;Lemke et al, 2010;Smerecnik et al, 2011;Dijkstra et al, 2012;East et al, 2012;Nielsen and El-Sohemy, 2012;Almeling, 2014;Borzekowski et al, 2014;Abrams et al, 2015;Etchegary et al, 2015;Mavroidopoulou et al, 2015;Mählmann et al, 2016;Simonstein and Mashiach-Eizenberg, 2016;Ahmed et al, 2017;Waters et al, 2017;Metcalfe et al, 2018;Jones et al, 2019) (Table 2). Instead, few studies (26%, n = 10) showed a medium or moderate knowledge level (Henneman et al, 2006;Molster et al, 2009;Haga et al, 2013;Waters et al, 2014Waters et al, , 2016Abrams et al, 2015;Dodson et al, 2015;Kaphingst et al, 2016;Miyamoto et al, 2016;Krakow et al, 2017).…”

“…The topic of citizens' perceptions about benefits and risks related to the use of genomics or omics sciences in medicine was investigated by 56% (n = 30) of the studies included (Henneman et al, 2006(Henneman et al, , 2013Skirton et al, 2006;Calsbeek et al, 2007;Morren et al, 2007;Ishiyama et al, 2008;Makeeva et al, 2009;Morin, 2009;Stewart-Knox et al, 2009;Hahn et al, 2010;Lemke et al, 2010;Nielsen and El-Sohemy, 2012;Bombard et al, 2013;Haga et al, 2013;Nicholls et al, 2013;Almeling, 2014;Vermeulen et al, 2014;Etchegary et al, 2015;Kaphingst et al, 2015Kaphingst et al, , 2016Mavroidopoulou et al, 2015;Mählmann et al, 2016;McCormack et al, 2016;Miyamoto et al, 2016;Simonstein and Mashiach-Eizenberg, 2016;Fournier and Poulain, 2018;Metcalfe et al, 2018;Horrow et al, 2019;Jones et al, 2019;Middleton et al, 2020; Table 3). Most of them (59%, n = 16) showed that participants perceived benefits and usefulness from the use of genomics and omics science in medicine (Skirton et al, 2006;Morren et al, 2007;Makeeva et al, 2009;Morin, 2009;Stewart-Knox et al, 2009;Hahn et al, 2010;…”

“…The vast majority of study participants report concern on the privacy and use, sharing and access to data (Stewart-Knox et al, 2009;Lemke et al, 2010;Nicholls et al, 2013;Etchegary et al, 2015;Mavroidopoulou et al, 2015;Mählmann et al, 2016;Miyamoto et al, 2016;Metcalfe et al, 2018;Jones et al, 2019;Middleton et al, 2020), and job discriminations (Henneman et al, 2006;Makeeva et al, 2009;Lemke et al, 2010;Almeling, 2014;Metcalfe et al, 2018) or insurance issues (Calsbeek et al, 2007;Morren et al, 2007;Lemke et al, 2010;Haga et al, 2013;Henneman et al, 2013;Miyamoto et al, 2016;Middleton et al, 2020). Three studies (Morren et al, 2007;Haga et al, 2013;Miyamoto et al, 2016) reported public's concern regarding potential consequences of genetic testing results, or in general personal genomics information, on working and professional life.…”