Understanding Information Practices of Interactive Personal Users

Orit Shaer Anne West Abstract Computer Science Department Wellesley College The dramatic growth in the availability of personal Wellesley College Wellesley, MA, 02481 USA genomic data to non-experts, and the use of digital Wellesley, MA, 02481 USA [email protected] media for delivering personal genomic information, [email protected] raise important HCI questions. We seek to advance the Diana Eastman theory and practice of HCI by investigating fundamental Oded Nov Computer Science Department issues concerning non-expert interaction with complex Polytechnic School of Engineering Wellesley College scientific information. Specifically, we explore how New York University Wellesley, MA, 02481 USA people use interactive tools to engage with their 5 Metrotech Center, Brooklyn, NY personal genomic information. 11201 USA [email protected] We present findings from a study of 63 early adopters of , which highlight users’

motivations, information practices, and needs.

Author Keywords Personal genomics; information practices;

ACM Classification Keywords H.5.m. Information interfaces and presentation (e.g., Permission to make digital or hard copies of part or all of this work for personal or classroom use is granted without fee provided that HCI): Miscellaneous. copies are not made or distributed for profit or commercial advantage and that copies bear this notice and the full citation on Introduction the first page. Copyrights for third-party components of this work Recent years are seeing a dramatic growth in the must be honored. For all other uses, contact the Owner/Author. availability of personal genomic data to non-experts, Copyright is held by the owner/author(s). CHI 2014, April 26 - May 1, 2014, Toronto, ON, Canada. often online and in interactive forms [8]. As a result, ACM 978-1-4503-2474-8/14/04. individuals are confronted with an unprecedented http://dx.doi.org/10.1145/2559206.2581145 amount of sensitive information about themselves,

which influences their decisions, emotional state, and genomic information, and what additional information well-being [10, 13]. Consequently, questions about needs are not served by existing interactive tools for The Personal how people make sense of, and engage with their exploring personal genomics. Here, we present results Project personal genomic data, are not only of paramount from this study, focusing on current information importance for society and policy makers, but also a practices and needs of early adopters. The Personal pressing issue for HCI research. (PGP) [6] is a global network We begin by providing background information on users’ engagement with personal genomics. of research studies spanning Advances in genetic research and technologies are

4 countries, which seeks to likely to further increase the availability of detailed and improve the scientific Background interactive genomic information to non-experts. This understanding of the genetic The Project (HGP) was completed a trend raises numerous technological, ethical, and and environmental decade ago, publishing the full reference sequence of contributions to human traits regulatory concerns. A recent example is the FDA the human genome in April 2003. This collaborative through the creation of a 23andMe case [4], in which the FDA ordered that the research program whose goal was the complete genetic public database of company stops providing risk assessment reports, 100,000 volunteers. mapping and understanding of all the human genes, claiming that: “serious concerns are raised if test lasted 13 years and cost $2.7 billion. Since then, the Participants must be willing results are not adequately understood by patients or if cost of a single human genome today has to share their genomic incorrect test results are reported.” [4]. sequences as well as health dropped to about $5,000 in 2013, a cost drop far faster and medical data with the than the rate of Moore's law [8]. scientific community and the The vast amounts of highly personal and dynamic general public. nature of personal genomic information (which is Decreasing sequencing costs and technological constantly updated based on new research results) also More than 3000 U.S. citizens advances offer the promise of , raise important HCI questions. For example, what are are now enrolled there and with genomic information integrated into medical care participants, including whole the functional requirements for supporting meaningful to provide individualized risk assessment, tailored genome datasets generated engagement of non-experts’ with personal genomic lifestyle change recommendations, and medications to as part of the research study, information? How can we design effective interaction as well as genetic datasets reduce risk [8]. with personal genomic information? How can potential obtained from other information overload resulting from the plethora of data companies and uploaded to Online Interaction with Personal Genomics the site. be mitigated? The rapid decline in the costs of DNA sequencing over the past decade has led to widespread access to We begin to explore these emerging HCI questions personal genomics data. Several companies now offer related to users’ engagement with their personal personal genomic services directly to consumers. For genomic information by conducting a qualitative study example, Illumina’s Understand Your Genome with 63 (PGP) [6] conference provides consumers with an opportunity to participants, which are early adopters of personal sequence their genome and learn about their personal genomic technologies. We seek to understand how genomic information as part of a two-day educational users are currently engaging with their personal

event. Test results are returned digitally on an Apple used DTCGT. In these studies, curiosity was mentioned Personal Genomic data Users iPad and are reviewed using Illumina MyGenome as participants’ primary motivation for undergoing 23andMe 38 application [5]. genomic testing [10, 13]. Participants also stated that they would use information gained from the test to take Complete genomics 11 Direct-to-consumer (DTCGT) is a personal responsibility for their future health [9]. Other Family Tree DNA 11 relatively new and developing online service, which themes include fascination with , contribution Ancestry DNA 5 enables individuals to acquire genetic information to research, and recreation [10, 13]. Studies also without the mandatory involvement of a healthcare identified several concerns among DTCGT users, NG Genographic 2 provider by sending a saliva sample to a DTCGT including privacy [8], the nature of the results and their 2 company—at the cost of a few hundred dollars. future impact [9, 10, 13]. Because only a small number Several popular DTCGT services offer interactive online of users around the world have had their entire genome Sorenson 1 reports of non-health related information including sequenced and returned to them [8], to our knowledge Medical tests 1 traits and ancestry information (e.g. AncestryDNA [2] no studies have investigated the perspectives of such 1 and FamilyTreeDNA [3]). 23andMe [1] also provided users. While these studies shed some light on the risk assessment results for about 250 conditions. motivations and concerns of early DTCGT users, they Table 1. Number of users per However, the reporting of health-related information do not provide insight regarding the information personal genomic data source.. directly to consumers has been stopped while it is practices and needs of personal genomic users. undergoing FDA review, which examines whether tests results are accurate and are adequately communicated To date, little HCI research has focused on users’ to and understood by consumers [4]. engagement with personal genomic information. Lachance et al. [12] examined the features of websites The highly personal and complex nature of personal in which consumers could directly purchase and receive genomic information raises important HCI questions. genetic testing. They found that the quality of Our goal is to contribute towards developing interactive informational content, literacy demands, and usability systems, which help people engage with their personal across health-related DTC websites varied widely. Their genomic information and act upon it, while at the same findings indicate that most users would struggle to find time we advance the theory and practice of HCI by and understand the important information on the investigating fundamental issues such as information majority of sites. Other researchers have considered presentation and non-expert user interaction with user engagement with genomic and biological complex scientific information. information more broadly, focusing mainly on novel interaction techniques for large biological data sets for learning [7, 14, 15, 16] rather than understanding Related Work personal genomic users’ specific needs. Little empirical data exists about the attitudes and motivations of personal genomic users [10]. Few studies have recruited participants who had actually

Qualitative Study: Understanding Users 82% of the participants hold undergraduate or Methodology graduate degrees, 32% of the participants hold doctoral To better understand information practices and needs degrees, and 30% of the participants work in life of personal genomic information users, we conducted sciences related fields. an exploratory qualitative study. 63 study participants Tools and information tasks for personal genomics were recruited from the Personal Genome Project We asked participants which websites and volunteer community. Participants filled in an online computational tools they used for engaging with their questionnaire consisting of 10 open-ended questions Reviewing annotated report personal genomic information, and how they used about their experiences engaging with personal “Get an overview of genetic these tools to learn from their data. makeup” genomics. We asked participants about their motivations for exploring personal genomic information, Only 11% of participants have used tools beyond those what tools they use to explore and make sense of their offered by their personal genomics provider (e.g. Searching the literature information, and what information needs could not be 23andMe, PGP, AncestryDNA, fTree). Additional 10% of “Learn about specific SNPs” fulfilled by existing tools. We also asked about the the participants have mentioned that they tried to impact their discoveries had on their life in terms of explore their using the tools provided by their behavior change, and about concerns regarding service provider or using other tools but found the tools Sharing information personal genomics. to be too complicated, overwhelming, or “not user “Share with genetic cousins” friendly”. Table 2 presents a summary of tools and Data was analyzed using content analysis methods. websites mentioned by more than 2 participants. For Comparing genomes First level codes were developed from preliminary each of these tools we summarize its main features. review of the data by two independent coders and were “Understand connections within Overall, we found that although our study participants then collapsed into advanced categories based on families” were motivated by a diverse set of questions, ranging frequency. Categories were analyzed for the from understanding traits, to identifying health risks, identification of themes. In what follows we report Curating information and to learning about their ancestry, they used existing results regarding the information practices and needs of “Compile a list of shared tools to perform five common information tasks: users. chromosomes segments” Reviewing an annotated report; Searching the literature; Sharing information; Comparing Results genomes; and Curating information. Figure 1 63 participants filled out the online questionnaire (29 Figure 1. Common information depicts these information tasks, and provides an tasks in the exploration of personal women), aged between 21 and 71, with an average age example quote motivating each task. genomic information. of 47. All participants had prior access to their personal genomic data. Some participants had personal genomic Information needs information from more than one service provider. Table We also asked users what could help them learn more 1 shows the number of users for each type of personal from their personal genomic data information. The genomic data. following needs have emerged from user responses:

1) Integrated resources – multiple users highlighted a need for seamless integration of data Tool Users Main features resources including annotated genomes, publications, various public databases, and health 23andMe 22 -Health report on over 240 related data. In the words on one participant: (Testing service, conditions with external links “Integrated databases of published research that interpretative - Visualized ancestry info allow the end user, through a seamless interface, tool) -Download of raw data file to connect personal data with any possibly relevant literature and public data.” Promethease 8 - Annotated report with latest 2) Visualization and information presentation – information from SNPedia (Interpretative -Comparison of two genomes users also commented on the need to visualize tool) -Family report their genomes. In the words of one user: “I'd be interested in seeing a graphic illustration of my SNPedia 5 - Medical, genealogical, and chromosome sets.” Another user wrote: “It would phenotypic variant associations be great to show the SNPs by chromosomal (Database) - SNP articles with links to location and in relation to other genes.” Other publications and summary users commented on the difficulty to interpret -Facility for sharing data tabular and dense reports. -Access to shared data 3) Data triangulation – several users asked for the ability to triangulate data from several individuals PGP- 7 - Annotated report of variants in order to understand connections within families. (Testing service, sorted by clinical importance database) and impact. 4) Content – multiple users asked for adapting the - Article for each variants content of personal genomic reports towards lay includes summary and links to people. Users also asked to integrate educational relevant publications materials within the reports: “every time I try to -Facility for sharing data understand something, I have to educate myself -Access to shared data via Google, instead of the interface that gives me my genetic data educating me. The research it Gedmatch 7 -Comparison of user’s data takes holds me back from using my info more.” (Database, with public results Finally, users asked for highlighting actionable Interpretive tool) -Visualized information about information: “Features that show more clearly what selected matches - Genetic distance calculator reasonable actionable options there might be for -Relationship calculator dealing with or preventing various illnesses.” 5) Sharing – users also highlighted the need for tools AncestryDNA 7 -Information on ancestry that facilitate and encourage information sharing. (Testing service, -Updates of new matches In the words of one user: “The thing that would interpretive tool) -Access to family tree help the most would be for people to be willing to -Download of raw data file share more information.” Another user asked for: “easy to use, at home programs, will be needed to Table 2. Interactive tools for PubMed 6 - Access to books and journals compare one's data with those of friends.” exploring personal genomics. about all aspects medicine and (Database) life sciences.

Conclusions and Future Work Informal Learning. IEEE Visualization and We contribute findings from a study of 63 users, which Computer Graphics, 18(12). [8] Davies, K. (2010). The $1,000 genome: the are early adopters of personal genomics. Our findings revolution in DNA sequencing and the new era of identify common information tasks, and highlight personalized medicine. New York, NY: Free Press. information needs to be addressed by interactive tools [9] Goldsmith, L., Jackson, L., O'Connor, A. and for personal genomics. To our knowledge this is the Skirton, H. (2012). Direct-to-consumer Genomic first HCI study that focuses on information practices Testing. European Journal of Human Genetics, 20. and needs for non-expert engagement with personal [10] Gollust, S.E., Gordon, E.S., Zayac, C., Griffin, G., Christman, M.F., Pyeritz, R.E. et al. (2012). genomics. We draw on these findings in our current Motivations and Perceptions of Early Adopters of effort towards the design of new interaction techniques Personalized Genomics: Perspectives from and tools for personal genomics. Thus, our future work Research Participants. Public Health will involve more in-depth interviews with users and Genomics, 15(1), 22-30. designers of personal genomic tools, as well as [11] Kuznetsov, S., Taylor, A. S., Regan, T., Villar, N. quantitative studies of the relationships between users’ and Paulos, E. (2012). At the Seams: DIYbio and Opportunities for HCI. In Proc of ACM DIS. motivations and their information behavior. [12] Lachance, C.R., Erby, L.A., Ford, B.M., Allen, V.C. and Kaphingst, K.A. (2010). Informational Acknowledgments Content, Literacy Demands, and Usability of We thank Jason Bobe and the PGP volunteers. This Websites Offering Health-related Genetic Tests work is partially funded by NSF grant no. IIS-1017693 Directly to Consumers. Genetics in Medicine, 12(5), 304-312. References [13] McGowan, M.L., Fishman, J.R. and Lambrix, M.A. [1] (n.d.). Retrieved from 23andMe: (2010). Personal Genomics and Individual https://www.23andme.com/. Identities: Motivations and Moral Imperatives of [2] (n.d.). Retrieved from AncestryDNA: Early Users. New Genetics and Society, 29(3). http://dna.ancestry.com/. [14] Schneider, B., Strait, M., Muller, L., Elfenbein, S., [3] (n.d.). Retrieved from Family Tree DNA: Shaer, O., Shen, C. (2012). Phylo-Genie: http://www.familytreedna.com/. engaging students in collaborative ‘tree-thinking’ [4] (n.d.). Retrieved from FDA: through tabletop techniques. In Proc. ACM CHI . http://www.fda.gov/iceci/enforcementactions/war [15] Shaer, O., Mazalek, A., Ullmer, B. and Konkell, M. (2013) From Big Data to Insights: Opportunities and ningletters/2013/ucm376296.htm Challenges for TEI in Genomics. In Proc. ACM TEI. [5] (n.d.). Retrieved from Illumina: [16] Shaer, O., Strait, M., Valdes, C., Feng, T., Lintz, http://www.illumina.com/company/events/ M. and Wang, H. (2011). Enhancing Genomic [6] (n.d.). Retrieved from Personal Genome Project: Learning through Tabletop Interaction. In Proc. http://www.personalgenomes.org/. ACM CHI. [7] Block, F., Horn, M. S., Phillips, B. C., Diamond, J., Evans, E. M. and Shen, C. (2012). The DeepTree Exhibit: Visualizing the Tree of Life to Facilitate