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The Human Genome: A User's Guide Combines Science with Humor to Teach Genomics


Julia Richards' and R. Scott Hawley's The Human Genome: A User's Guide begins with a dedication that sets the tone for the rest of the book. "To the writers and characters of CSI and CSI: Miami," they write, "who each week do in 20 seconds what it takes working scientists days, weeks, or even months to accomplish. And to the real scientists who are moving us towards a time when such wondrous speed and accuracy might actually become possible." Funny, certainly — but also true.

For all the advanced technologies researchers have developed, and for all the data that labs are able to generate with them, genomics research is still much more complex to conduct and analyze than the average television show montage would have us believe. The User's Guide, which admirably accomplishes its role as a science textbook or reference manual, also does a good job of tackling that complexity and explaining both what is already known and what has yet to be fully explored.

The book, which begins with Mendel and his peas, explains everything from the simple (the basic cell cycle) to the more complex (the definition of a mutation or what role genes play in cancer) to the ephemeral. An entire chapter is dedicated to "fears, faith, and fantasies" about genomic medicine.

The book's basic premise, the authors say in the foreword, is to explain the difference between simple "defects" in people's genes and when the defect "leads the genes to produce an RNA or protein molecule that no longer performs its function correctly." This would seem to be the very thing that genomics researchers try to explain all the time to a public that may not understand their work.

Better education and communication are two things that are emphasized over and over when it comes to determining the best way to make genomics a bigger part of the public's general health routine, or more mainstream. The User's Guide, as a text or reference, could be part of that conversation with the public. Because of how simply it begins, the book could be put to good use in high schools as students start to learn about the more complex fields of research and start to develop an interest in higher education in the sciences. It could also serve very well as a guide in higher education, to those pursuing more specialized fields like cancer research or personalized medicine, or even as a thought-provoking conversation-starter in ethics classes or discussions about the implications of advanced genomics research.

"This user's guide is meant for each of us who live our lives every day as the final end users of the vast amounts of information located in the human genome," the authors write. It might take a few more years before science is really as slick as it is on television, but books like Richards' and Hawley's will help researchers lead the way.

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