SEP TEMBER–OCTOBER 2014 INTERACTIONS 35 INTERAC TIONS. ACM.ORGmore than 3,000 U.S. citizens areenrolled through a process of openconsent in the project and share theirgenomic information.
In summary, given recent advancesin the field of personal genomics andrapidly declining sequencing costs,it seems unavoidable that people willcontinue to seek learning about theirown genetic makeup and its healthimplications. Our goal is to contributeto developing interactive systems inorder to help people engage with andlearn from their personal genomicinformation.
IMPLICATIONS FOR HCI
The highly personal and complex
nature of personal genomic
information raises important HCI
questions about how people make
sense of and engage with it, and how
comfortable they feel about sharing
it in order to advance scientific
and biomedical research. More
specifically, the dynamic nature of
personal genomic information, which
constantly gets updated thanks to new
research findings, raises the following
important HCI questions:
• What are the functional
requirements for supporting
meaningful engagement of non-
experts with personal genomic
• How can we design effectiveinteraction for personal genomicinformation?
• How can we evaluate theeffectiveness of techniques forinteraction with personal genomicinformation?
• Can user interface designinterventions motivate users’willingness to adapt healthierbehaviors?
• Can user interface designinterventions impact users’willingness to share their personalgenomic data?
In the following discussion, webegin to address these questions byconsidering user perspectives onpersonal genomics. We then highlightareas for future HCI work.
USER PERSPECTIVES ON
Little empirical data exists about the
attitudes and motivations of personal
genomics users [ 1]. Few studies
have recruited participants who had
actually used genetic testing. In thesestudies, curiosity was mentioned asparticipants’ primary motivationfor undergoing genetic testing [ 1, 2].Participants also stated that theywould use information gained from thetest to take personal responsibility fortheir future health [ 7]. Other themesinclude fascination with genealogy,contribution to research, andrecreation [ 1, 2]. Studies also identifiedseveral concerns among personalgenomics users, including privacy, thenature of the results, and their futureimpact [ 1, 2, 7]. Only a small numberof users had their entire genomessequenced, and to our knowledgeno studies have investigated theperspectives of such users.
While the studies we describedshed some light on the motivations andconcerns of early personal genomicsusers, they do not provide insight intothe information practices and needs ofsuch users.
We began to study users’information practices and needs byconducting a qualitative study withPersonal Genome Project (PGP)participants, who are early adopters ofpersonal genomics technologies.
Sixty-three participants ( 29 women)filled out an online questionnaire thatconsists of 10 open questions (seeTable 1), in addition to demographicquestions. Participants were betweenthe ages of 21 and 71, with an averageage of 47. All participants had prioraccess to their personal genomicdata. Some participants had personalgenomics information from morethan one service provider. Elevenparticipants had their entire genomessequenced.
Fifty-two participants heldundergraduate or graduate degrees;
20 participants held doctoral degrees;and 19 participants worked in lifesciences-related fields. These findingsindicate that our study participantsfit the description of early adopters:They tend to have advanced educationand possess favorable attitudes towardscience.
We analyzed participants’responses using content-analysismethods. We developed first-levelcodes on the basis of existing literatureand a preliminary review of the databy two independent coders, andthen collapsed them into advancedcategories based on frequency.
1. What are the main reasons for yourinterest in exploring your personalgenomic information?
2. What impact did your discoveries haveon your life and attitude toward yourhealth? Was there anything that you did,started doing, or stopped doing as aresult of getting your personal genomicinformation?
3. What new or unexpected things did youlearn as a result of genetic testing?
4. Did your discoveries lead you to socialor formal interactions with otherpeople and if so who? For example,did you discuss your results withhealth professionals, family members,scientists, or support groups?
5. What websites and computational toolsdid you use for engaging with yourpersonal (or your family’s) genomicinformation? How did you use these toolsto learn from your data?
6. What features or applications couldhelp you manage and learn even morefrom your (or your family’s) personalgenomic data?
7. What are the main reasons for yourdecision to share your personal genomicinformation on PGP?
8. What were valuable aspects of yourexperience exploring and sharing yourpersonal genomic information?
9. What concerns do you have regardingexploring and sharing your personalgenomic information?
10. Is there anything else you think weshould ask about your experience ofengaging with your genomic data?
→ Table 1. Open questions from the onlinesurvey for Personal Genome Projectparticipants.