Why I Sequenced My Genome

It’s a fresh April morning in 2012 when I head to Connecticut to see a man about a genome. Not just any genome, but my own.

I want to learn my own biological secrets. I want to get a look at the unique DNA sequence that defines my physical quirks, characteristics, and traits, including my nearsighted blue eyes, my freckles, my type O-positive blood, and possibly some lurking predisposition to disease that will kill me in the end. So I’m not going to see just any man, but the mad scientist of genomics himself, the arrogant upstart of biotechnology, an inventor and entrepreneur who has upended the business of genetic sequencing once before — and now appears to be doing it again.

Jonathan Rothberg, founder and CEO of the company Ion Torrent, believes his cheap and fast sequencing machines will revolutionize medical practice within the decade. Indeed, he says, the revolution has already begun. In some hospitals, cancer patients can already have part of their genomes checked before their physicians decide on treatment. Newborns with life-threatening problems can have their genomes scanned to give doctors insight into what’s wrong — hopefully, before it’s too late.

Soon, Rothberg says, everybody will be sequenced — probably as infants — and will be able to make diet, lifestyle, and medical choices based on specific information, rather than on hunches about vulnerabilities. Knowledge of a person’s genome will allow specialists to customize medical treatments and drugs for that patient, to maximize effectiveness while minimizing side effects. A routine checkup could start with the doctor checking for “updates” to a patient’s genomic file; if medical research has turned up new data about the patient’s particular set of genes, the doctor would get an alert. “Our goal,” Rothberg declares, “is to really transform medicine.”

This is an excerpt from the article The Gene Machine And Me by Eliza Strickland in IEEE Spectrum. Read the whole article here >