personal genomes to 100,000 Britishcitizens by 2017. In the U. S., theVeterans Administration is pursuingan effort to enroll one million veteransin a research study that incorporatesgenetic profiling. A prominentnonprofit example is PersonalGenomes.org [ 6] and their Global Network ofPersonal Genome Projects, a programspanning four countries that seeks toimprove the scientific understandingof the genetic and environmentalcontributions to human traits throughthe creation of a genetic publicdatabase of 100,000 volunteers.
Participants must be willing to sharetheir genomic sequences as well ashealth and medical data with thescientific community and the generalpublic. The longest running PGP siteis based out of George Church’s Lab atHarvard Medical School. The HarvardPGP was established in 2005, whenthe cost of sequencing a single humangenome was in excess of $1 million.
It began with a pilot study of 10 fully
identified individuals, known as the
PGP- 10, and slowly scaled up. Today,
key challenges that lie ahead for the
Here, we provide a brief overviewof personal genomics and explorethe roles HCI can play in helpingpersonal genomic information usersto understand, engage with, and sharetheir information. This is also a callto action for those of us interested inthe intersection of personal genomicsand HCI, and, more broadly, theinteraction of non-experts withscientific data.
ONLINE INTERACTION WITH
In April 2003, the Human GenomeProject (HGP) published the fullreference sequence of the humangenome. This collaborative researchprogram, whose goal was the completemapping and understanding of all thehuman genes, lasted 13 years and cost
$2.7 billion. Since then, the cost ofsequencing a single human genome hasdropped significantly.
The decline in the costs of DNAsequencing offers the promise ofpersonalized medicine, with genomicinformation integrated into medicalcare to provide individualized riskassessment, tailored lifestyle-changerecommendations, and medicationsto reduce risk. In addition, it ledto widespread access to personalgenomics data. Several companiesnow offer personal genomics servicesdirectly to consumers.
Direct-to-consumer genetictesting (DTCGT) is a relatively newand developing online service thatenables individuals to acquire geneticinformation without the mandatoryinvolvement of a healthcare providerby sending a saliva sample to a DTCGTcompany—at the cost of a few hundreddollars. Several popular DTCGTservices offer interactive online reportsof non-health-related informationincluding traits and ancestryinformation (e.g., AncestryDNA and
Family TreeDNA). 23andMe [ 5] alsoprovided risk-assessment resultsfor about 250 medical conditions.
However, the reporting of health-related information directly toconsumers has been stopped whileit is undergoing review by the FDA,which is examining whether testsresults are accurate and are adequatelycommunicated to and understood byconsumers [ 3].
At the other end of the spectrumfrom the commercial offering of geneticservices are large-scale governmentand nonprofit efforts. For example, theU.K. government recently announcedits plan to sequence and return whole
As genomic information available to
users is likely to become ever more
detailed and complex, HCI tools and
practices can help make it more
accessible and understandable. I M A G E