1. 05.12.2015
Development of an interactive online clinical whole genome sequencing educational and engagement
tool
Victoria M. Raymond, Sunee Waleetorncheepsawat, Randy Maile, Ken Sherman, Le Nguyen, Kevin
Rhodes, Sophie Coon, and Erica Ramos
The promise of clinical whole genome sequencing (cWGS) is overshadowed by the vast amounts of
complex data, difficulty in translating data into actionable information, and the need to communicate
information in lay language. Existing websites allow genomic exploration but are neither consumer
friendly nor routinely include educational or interactive components.
We developed a free, web-based “community” where individuals who have undergone cWGS can
explore their genome using the MyGenome® application and Understand Your Genome® Community.
Those who have not had cWGS can join and explore a demonstration genome. The goal is to create an
interactive, engaging workspace to increase individual genomic literacy and expand the personal utility
of cWGS data. Individuals learn about medical conditions, including clinically significant variants and
pharmacogenetic indications identified through their screening and can link to educational web
resources. Individuals can access variant information (allele frequency, gene callability, inheritance
patterns, amino acid changes). As individuals learn of variants through academic or lay literature, they
can use the chromosome browser feature to navigate to these areas within their genome.
Participant feedback has been positive. Website statistics demonstrate frequent and return visits.
Participants overwhelmingly request the ability to follow genomic discoveries, research their variants,
share genomic information with family, friends and health care providers, and donate their genome to
research. Participants are also interested in networking and identifying individuals within the community
with similar genomic findings.
The development of an online educational community has been positively received by individuals
engaged in cWGS. As we continue to explore the utilization of genomic information and struggle with
the definition of “value”, understanding the motivations for sharing genomic information and the
opinions on the key components and features of the application will be important in building an actively
engaged community.