SIGNALS
Genome BC News | Summer 2014
NO.47 Contents Feature Story | Message from the President & CEO | Profile | Special Feature | News & Announcements
CONSUMER GENOMICS: HOW MUCH DO WE REALLY WANT TO KNOW? The human genome project, completed in April of 2003, allowed us the first opportunity to read nature’s complete genetic blueprint for a human being. The knowledge uncovered by the research set the stage for a new era of genomics and insight into genomes of all living organisms. In November 2007, 23andMe – a California based private company challenged “Pandora’s Box” by allowing individuals to access their personal genetic information using genomics technology. By simply sending a saliva sample through the mail, people were able to trace their ancestry beyond the traditional family tree, learn about their history and even find ‘relatives across continents or across the street’. In 2014 the market for direct-to-consumer genetic testing is still growing as more individuals want to know about the potential of certain genetic diseases, take a more proactive role in their healthcare and learn about their ancestral origins.
Agnes Baross
Marcia MacDonald
Anikó Takács-Cox
These direct-to-consumer genetic tests, however, do have significant risks and limitations. Consumers are vulnerable to being misled by the results of unproven or invalid tests. Private company websites suggest www.genomebc.ca
that they offer consumers information — and that this information should not be used to make diagnoses. Without guidance from a licensed healthcare provider, individuals may make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information about their health. Consumers also raise questions around genetic privacy and how their genetic information could or will be used in the future.
As professionals in the genomics field, they wanted to understand more about the results delivered by direct-to-consumer genetic testing. In the last two years, four Genome BC staff members decided to pursue personal genome testing. Drs. Marcia MacDonald, Agnes Baross and Aniko Takacs-Cox chose 23andMe to genotype their approximately one million known single nucleotide variant positions. Chief Scientific Officer Dr. Brad Popovich took an even more fulsome approach and used Illumina to navigate his personal genomics path—you can read more about his journey in the Special Feature section in this issue of Signals. Marcia, Agnes and Aniko had similar reasons for wanting the information: as professionals in the genomics field, they wanted to understand more about the results delivered by direct-to-consumer genetic testing. They also understand that the more genetic data made accessible for research, the more meaningful individual results will become.