users have regarding the sharing ofpersonal genomic information or meta-information? When people understandthe information better, are they willingto share more or less?
Further work is needed to betterunderstand the ways in which HCItechniques can contribute to engagingwith, learning from, and sharingpersonal genomic information moreeffectively.
Overall, bringing HCI knowledgeto the growing field of personalgenomics can help make twoimportant contributions: improvegenetic literacy among non-expertsand improve the facilitation of sharingpersonal genomic information. Bothare important for a more informed andhealthy society.
1. Gollust, S.E., Gordon, E. S., Zayac, C.,Griffin, G., Christman, M.F., Pyeritz,R.E. et al. Motivations and perceptions ofearly adopters of personalized genomics:Perspectives from research participants.Public Health Genomics 15, 1 (2012),
2. McGowan, M. L., Fishman, J.R., andLambrix, M. A. Personal genomics andindividual identities: Motivations andmoral imperatives of early users. Ne wGenetics and Society 29, 3 (2010).
3. FDA: http://www.fda.gov/iceci/enforcementactions/warningletters/2013/ ucm376296.htmtesting firm to stop selling DNA analysisservice; http://www.nytimes.com/2013/11/26/business/fda-demands-a-halt-to-a-
5. 23andMe: https://www.23andme.com/
6. Personal Genome Project: http://www.
7. Goldsmith, L., Jackson, L., O’Connor,A., and Skirton, H. Direct-to-consumergenomic testing. European Journal ofHuman Genetics 20, (2012).
Orit Shaer is the Clare Boothe LuceAssistant Professor of Computer Science andMedia Arts and Sciences at Wellesley College.
She directs the Wellesley College HCI Lab. Herresearch in HCI focuses on 3D, tangible, andtabletop interaction, as well as on computer-supported collaborative learning.
Oded Nov is an associate professor atNew York University’s Polytechnic Schoolof Engineering. He received his Ph.D. fromCambridge University. His research focuseson behavioral, motivational, and dispositionalaspects of social computing.
various public databases, and health-
related data. In the words of one user,
“Integrated databases of published
research that allow the end user,
through a seamless interface, to connect
personal data with any possibly relevant
literature and public data.”
• Visualization and information
presentation. Users also commented on
the need to visualize their genomes.
One user stated, “I’d be interestedin seeing a graphic illustration ofmy chromosome sets.” Other userscommented on the difficulty ofinterpreting tabular and dense reports.
• Data triangulation. Several usersasked for the ability to triangulatedata from several individuals in orderto understand connections withinfamilies.
• Content. Multiple users asked
for the content of personal genomic
reports to be more easy to use by
laypeople. Users also asked for
educational materials to be integrated
within the reports: “Every time I try
to understand something, I have to
educate myself via Google, instead of
the interface that gives me my genetic
data educating me. The research it
takes holds me back from using my
info more.” Finally, users asked for
highlighting actionable information:
“Features that show more clearly
what reasonable actionable options
there might be for dealing with or
preventing various illnesses.”
• Sharing. Users also highlighted
the need for tools that facilitate and
encourage information sharing. For
example, one user suggested that
“easy-to-use at-home programs will
be needed to compare one’s data with
those of friends.”
These findings identify common
information tasks and highlight
information needs to be addressed
by interactive tools for personal
From an HCI perspective, thesefindings can serve as a basis toward thedesign of new interaction techniquesand tools for personal genomics.
However, many open questions remainregarding non-expert engagementwith personal genomic information.
For example, what makes the genomicinformation difficult to understand?
How do users find and decide which
bioinformatics tools to use? How do
users document and organize their
findings? How do they validate their
findings? Future HCI research can gain
further insights on user engagement
with personal genomics and play an
important role in the design of new
interactive tools that help non-experts
to engage and learn from their personal
From a societal perspective, anotherimportant aspect of users’ engagementwith their personal genomicinformation is information sharing.
All of our study participantsshared their genomic data with thePGP research. Such sharing increasesthe value of genomic research, as itenables researchers to study the linksbetween genetics and health in finerdetail. From an HCI perspective, it isimportant to understand the factorsthat are related to information sharing.Understanding user concerns aboutgenomic information, and about howthese can be alleviated, can contributeby ( 1) creating new sharing mechanismsthat alleviate user concerns, for exampleby allowing users to control what kindof information will be shared andwho it can be shared with (i.e., whichresearch projects); ( 2) designing morerelevant and appropriate consent forms;( 3) encouraging users to share theirinformation with researchers, given thattheir privacy needs are met.
THE ROAD AHEAD
Given the different ways usersengage with their personal genomicinformation, reports could be morepersonalized and interactive and caterto different users’ needs. Personalgenomics data already containsinformation that can be used toinform the presentation to the user;for example, most genetic-testingcompanies collect other demographicinformation such as age and educationlevel. Future work may explore theutility of the automatic adaptation ofinteractive genetic reports based on thepersonal attributes of the user. Downthe line, HCI research may also considerfactors affecting users’ willingness toshare information. For example, whatkind of information do users shareand with whom? What concerns do