Personal Genetic Testing: Can DNA Discovery Go Mainstream?

Posted: Published on August 3rd, 2012

This post was added by Dr Simmons

Winning government approval would be the first step in increasing public confidence in personalized genetic testing

Maciej Frolow / Photodisc / Getty Images

Earlier this week, the personal gene-testing company 23andMe announcedthat its seeking the blessing of the Food and Drug Administration (FDA) for its DNA tests that allow people to peer into their genetic makeup.

If the FDA grants approval, it would be a major step forward for the growing industry springing up around genetic testing. Every day, it seems, scientists are reporting new gene-based discoveries that allow them to better pinpoint the causes of disease. As technology becomes increasingly sophisticated, single-gene tests are being joined by the sort of genotyping technology used by 23andMe, which scans about 1 million points on the genome that are known to vary among humans. An even more complex technique, genomic sequencing, looks at about 3 billion points that cover a persons entire genetic code. 23andMe the name is a reference to the 23 pairs of chromosomes that comprise a persons genome intends to eventually offer sequencing, but the cost starts at around $4,000, which is considerably more expensive than the $299 the company charges for its testing.

Not only is sequencing more costly, but it also uncovers a trove of data that researchers have yet to fully understand. Even among the more targeted areas of the genome that 23andMe examines, there is much information that remains murky if not elusive. Of the 1 million points we look at, theres only a fraction of those that science can tell us anything about, says Ashley Gould, 23andMes vice president for corporate development and its chief legal officer.

Since 23andMe began offering testing in late 2007, more than 150,000 people have become clients. The vast majority have been adults, although parents can give consent for their children to participate. Our goal is to get 1 million in our database, says Gould. Having more people will increase our power to conduct research. There is immense power in coming together to progress research.

(MORE: 23andMe Seeks FDA Approval for Personal DNA Test)

The company was co-founded by Anne Wojcicki, who is married to Google co-founder Sergey Brin. Her bio on the company website explains why shes interested in personal genetics, expressing her hope that the company will create a common, standardized resource that has the potential to accelerate drug discovery and bring personalized medicine to the public. (Plus, getting access to her own genetic information and understanding it has always been one of Annes ambitions.)

The $299 fee includes processing of a saliva sample via a collection kit the company sends out. The data gleaned from the sample is shared with users via a secure website. Customers also have access to the companys ancestry features, which have helped people track down relatives. There are 242 health reports available for different conditions, enabling users to learn more about traits like freckling or eye color as well as carrier status for cystic fibrosis, for example, and risk for diseases such as Alzheimers. As new literature is published, we add new reports, says Gould.

When data reveals increased risk for certain diseases, 23andMe offers up videos that share more detailed information about that specific condition. The company also has a relationship with a nationwide genetic counseling service that users can call for an appointment.

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Personal Genetic Testing: Can DNA Discovery Go Mainstream?

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