The Genome Book

Most things in life are ultimately personal. Certain unnamed authors, for example, can launch a new blog with grand ambitions, only to have personal holiday and family matters divert their attention for a few weeks (ahem…sorry about that!). “Personal” often trumps public, beats out ambitious, and generally jumps first in line before many other factors in our lives.

That’s also true in the real world aspects of genetic and genomics. When someone thinks about understanding their genetic code, lots of factors come into play, many of them deeply personal. But in official circles, such personal issues often get relatively little attention. For the genomic era to take off, that needs to change.

That idea may sound counterintuitive. Since everyone’s DNA ultimately so individual, how can personal aspects of testing and genome analysis gotten short shrift? The answer is summed up by four letters – “ELSI.”

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Medical records?

In 2004, the U.S. Surgeon General declared Thanksgiving as Family History Day. What better time to learn about the health history of your family than when so many members are gathered?  

We tend to think of genetics as high tech (and often expensive), but a family health history is a simple, low-cost activity that could become one of the most powerful tools in your personalized medicine tool box.

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Two headlines regarding genetics hit the wires recently, and together, spoke volumes.

In one, gene sequencing firm Complete Genomics announced that it had sequenced a whole human genome for $1,700 — a significant turn in the race to deliver an affordable, high-quality readout of a person’s entire DNA sequence.

In the other, members of a family known to carry a hereditary form of colon cancer discuss getting a genetic test — and some say they’d rather not know. “If it came back positive,” said one, “I think I would feel like it would be some kind of countdown.’’

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