The Age of the Genome: Commercial DNA Sequencing, Familial Searching and What We Are Learning

Crowd of people at the street, city center

All of these people are 99% the same at the genomic level. The individuals of the human species are far more alike than different.

There are 3 billion (3,000,000,000) bases in my genome—in each of the cells of my body. Likewise, Johanna, the writer who sits next to me at work also has 3 billion bases in her genome. Furthermore, our genomes are 99% the same. Still, that’s a lot of places where my genome can differ from hers, certainly enough to distinguish her DNA from mine if we were both suspected of stealing cookies from the cookie jar. The power of discrimination is what makes genetic identity using DNA markers such a powerful crime solving tool.

The completion of the human genome project in 2003 ushered in a tremendously fast-paced era of genomics research and technology. Just like computers shrank from expensive, building-filling mainframes to powerful hand-held devices we now call mobile phones, genome sequencing has progressed from floor-to-ceiling capillary electrophoresis units filling an entire building to bench top sequencers sitting in a corner of a lab. The $99 genome is a reality, and it’s in the hands of every consumer willing to spit into a tube.

Commercial DNA sequencing services are promising everything from revealing your true ancestry to determining your likelihood to develop dementia or various cancers. Is this progress and promise or is it something more sinister?

As it turns out, that isn’t an easy question to answer. What is probably true is that whole genome sequencing technologies are being put into the hands of the consumer faster than society understands the ethical implications of making all of this genomic information so readily available. Continue reading

Learning About the $1,000 Genome

Personalized MedicineAt the recent International Symposium on Human Identification, Kevin Davies, the keynote speaker and author of The $1,000 Genome, entertained attendees with a history of human genome sequencing efforts and discussed ways in which the resulting information has infiltrated our everyday lives. Obviously, there is enough material on the subject to fill a book, but I will describe just a few of the high points of his talk here.

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Genome: Unlocking Life’s Code

BannerA new exhibit opened at the Smithsonian National Museum of Natural History on Friday, June 14: “Genome: Unlocking Life’s Code” to recognize the 60th anniversary of Watson’s and Crick’s discovery of the DNA double helix and the tenth anniversary of the completion of the Human Genome Project (HGP) in 2003. The goal of this temporary exhibit is to educate visitors about DNA in general, the technological and scientific accomplishments of the HGP and implications of new knowledge gleaned from the complete human genome sequence, including many ethical, legal and societal issues such as potential genetic discrimination by employers and insurance companies, the use of DNA for human identification, prenatal genetic screening and privacy concerns.

A few of us here at Promega were fortunate enough to view the exhibit the night before it opened to the public. There was a lot to see and do, with plenty of interactive displays to keep even career scientists interested and amused. What were some of the highlights?

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