Categories were analyzed for theidentification of themes.
Next, we discuss findings relatedto two aspects of personal genomicswhere we see opportunities foreffective HCI interventions: engagingand learning from personal genomicdata and sharing personal genomicinformation.
ENGAGING AND LEARNING
FROM PERSONAL GENOMICS
To get insight into the informationneeds of personal genomics users, weasked participants about the websitesand computational tools they used forengaging with their personal genomicinformation and how they used thesetools to learn from their data.
We found that online tools for
personal genomics used by our
participants could be classified into
three general categories:
• interpretive tools, which apply
computational algorithms for finding
biological meaning and for annotating
• testing services, which enable users
to order DNA test kits, provide raw
genetic data for download, and include
some interpretative tools; and
• databases, which document SNPs
(variations) that have been reported as
medically or genealogically significant,
and cite related scientific publications.
Although our study participants
were motivated by a diverse set of
goals, ranging from understanding
traits to identifying health risks to
learning about their ancestry, they
used interactive tools to perform five
common information tasks (Figure 1):
• Review an annotated report—“get
an overview of my genetic makeup”
• Search the literature—“learn
about specific SNPs”
• Share information—“share with
• Compare genomes—“understand
connections within families”
• Curate information—“compile a
list of shared chromosome segments.”
We also asked participants what
could help them learn more from their
personal genomic data information.
The following needs have emerged
from user responses (also summarized
in Figure 2):
• Integrated resources. Multiple users
highlighted a need for the seamless
integration of data resources, including
annotated genomes, publications,
Searching the literature
“Learn about specific SNPs”
“Share with genetic cousins”
“Understand connectionswithin families”
“Compile a list of sharedchromosome segments”
Reviewing annotated report
“Get an overview of genetic makeup”
Figure 1. Common information tasks in theexploration of personal genomic information.
Integrated Resourcesseamless integrationof various resources
private and public
adapting to laypeople,
Figure 2. Information needs ofPersonal Genome Project participants.