Should Healthy People Get Their Genomes Sequenced?

By Crux Guest Blogger | March 8, 2013 2:06 pm

By Eliza Strickland

What can you learn from getting your genome sequenced? If youre a relatively healthy person like me, the answer is, not much at least not yet.

I embarked on a mission to get myself sequenced for my recent article The Gene Machine and Me. The article focused on the sequencing technology that will soon enable a full scan of a human genome for $1000, and to make the story come alive, I decided to go through the process myself. I got my DNA run through the hottest new sequencing machine, the Ion Proton, and had it analyzed by some of the top experts on genome sequencing, a team at Houstons Baylor College of Medicine.

The Baylor team has been intimately involved in many of the most important advances of genome sequencing over the last decade. And their accomplishments reveal both the astoundingly rapid progress of the technology, and how far we have yet to go. Heres a synopsis: the story of five genomes.

In April of 2003, the federally funded Human Genome Project finished the first complete human genome. It had taken an army of researchers about 13 years and $3 billion to accomplish the task, but finally the researchers had the sequence of about 3 billion nucleotides, the complete genetic code for a human being.

The genome constructed by the Human Genome Project was a consensus genome made by combining the genetic material of a handful of people. By averaging the variations between these genomes, the researchers came up with their best approximation of what it means to be a healthy, functional person. It was a monumental achievement. Three years earlier, in 2000, President Bill Clinton had announced the completion of the human genomes rough draft, and called it the most important, most wondrous map ever produced by humankind.

Once the Human Genome Project was completed, researchers were eager to start sequencing individual human beings, and to examine the genetic variations that define each individuals traits and quirks. If the cost of sequencing a genome had continued at $3 billion a pop, there would be no way to conduct such experiments. But in 2007, the company 454 Life Sciences invited James Watson, the genetics pioneer who helped discover the double helix structure of DNA back in 1953, to be the first individual to be sequenced on the companys new machine. The machine would bring the cost down to about $1.5 million per genome. Baylors team would do the analysis.

When the sequencing was complete, Watson flew down to Houston. (Another genetics pioneer, Craig Venter, was also sequencing his personal genome at the same time, but the Baylor team says Watsons was completed first.) Watson received his results from Baylor researcher and physician James Lupski, a preeminent geneticist. I had to be the one to say, Well, Jim, we dont know what the hell your DNA means, because youre the first one to be sequenced, Lupski recalled with a laugh. Lupski was exaggerating a bit for comic effect, but the truth was, medical research didnt have much to tell Watson.

The next step in genomic medicine, the Baylor researchers decided, was to sequence someone who wasnt entirely healthy. They chose as their subject their own James Lupski, who has an inherited neurological disease called Chacot-Marie Tooth Disease. A variety of mutations can cause this disorder, and Lupski wondered if a whole-genome scan could identify the particular mutation that caused his familys problems. There still was the question, could we find things that were important for medical management? Lupski told me. Was the signal above the noise? The noise, he explains, is the thousands of genetic variants found in each individual, because everybody truly is unique.

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Should Healthy People Get Their Genomes Sequenced?