A new book by Italian molecular biologist Sergio Pistoi explores at-home DNA testing and what it really means for big data and genealogy.
If you’ve ever taken an at-home DNA test, Serio Pistoi would label you a “spitter” – someone who swabbed their saliva and sent it off to a company like 23andMe to be analyzed for a fee. Even if you haven’t had your own DNA tested, you likely know someone who has. DNA testing surged in popularity when it became available (and affordable) to the masses. In his book, Pistoi investigates what this means for us and for future generations.
“If you could zoom in on one of your cells and make your way among the maze of microscopic wires, membranes and organelles that fill its interiors, you would see a bubble distinct from the rest: this is the nucleus, the cell’s genetic control room,” writes Pistoi, a science journalist who holds a PhD in molecular biology. “Zoom further in on the nucleus and you’ll see a microscopic noodle: this is the DNA (short for Deoxyribonucleic Acid), the compound that contains the genetic information for almost every organism on Earth.”
In the first chapter, Pistoi introduces readers to DNA, as well as chromosomes which make up genes, which compose proteins; the building blocks of cells. “While genes live quietly in the nucleus, the proteins they code do all the jobs required for life,” writes Pistoi. “The funny thing is that genes account for only 2-3 percent of our DNA. The bulk of our genetic material does not code for any protein, which has puzzles researchers for decades.”
This excess, dubbed “junk DNA”, actually turns out to be “the diffused brain of the genome, an elusive mastermind that can summon into action thousands of genes at once, directing their work as if they were extras in an action movie.”
Pistoi’s writing is lively and easy to follow along with as he guides readers through his own experience becoming a “spitter” and navigating the world of DNA testing. He describes the positive aspects of it, such as predicting risk for certain diseases: in one chapter, he tells the story of a woman named Monica, who survived ventricular fibrillation thanks to a defibrillator installed after a DNA test revealed she carried a rare hereditary heart disease. Her life was saved thanks to the preventative measure the DNA test allowed her to take.
Unfortunately, what DNA testing can tell consumers is still limited. Pistoi writes that “when it comes to predicting our health, things are rarely so straightforward, and knowledge can even turn against you.” He discusses the supermarket of DNA testing and why the FDA cracked down on consumer genomics companies for the risk of bad interpretations of results. He also considers the risks of knowing the inevitable – what would happen if the people around you knew you were susceptible to schizophrenia or dementia? He asks, what if those people were your banker or your employer?
DNA privacy is a real and serious concern. And yet companies are building social networking sites based on connecting people with similar DNA. Pistoi indulges readers in his personal experiences with these sites, which was generally a positive experience for him, as well as the more serious drawbacks of DNA testing.
“With the growth of DNA-tailored treatments also comes the risk of choosing therapies based on flawed tests,” Pistoi writes. “But the media reported stories of patients for whom this method has failed miserably, like John R. Brown…who switched his depression medication after taking a GeneSight test and wound up suicidal in a psychiatric hospital.” Even though researchers are optimistic, the limits of current technology and the potential catastrophic ramifications of mistakes are clear. For now, the future is difficult to determine.
The biggest concern readers may have is whether they can be a spitter safely. Pistoi says privacy is like a volume knob, not and on/off button: “Everyone has a level of privacy that suits their needs: the goal is to balance the utility of sharing with the risk of exposing information unnecessarily.” Pistoi also says reputable consumer genomics services will keep your identity separate from your DNA files, and that he used a pseudonym and prepaid credit card and different address when he bought his kit. You an even check the results by logging in through anonymous browser and hiding your IP address from the company.
His hints and tips are actually pretty beneficial. The only downside of the book is it appears to be self-published, and there are occasional obvious printing errors and editing mistakes. But aside from that, it is a great read and very professionally done.
At the end of the book, he includes a list of practical essentials to know before buying an at-home DNA testing kit, as well as a Q&A section with other useful information. Overall, DNA Nation is an informative and well-written book about DNA testing today for those who want to test, or may never do it themselves and are just curious to know more. This brief and entertaining guide to the internet of genes is perfect for anyone interested in the science of ourselves.