Medical Detective Nonfiction

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The human genome has been fully sequenced, and the cost of doing so for any given person is decreasing rapidly. But what to do with that large amount of information? This is where Dr. Ashley steps in. He and a team of researchers at Stanford worked to analyze the medical implications of the complete genome to improve patient care. In this book, Dr. Ashley shares his team's medical detective work.

The book includes highly technical language, and I found myself remembering back to when I learned the structure of DNA and genes. However, the stories are told in an engaging, conversational tone with lots of metaphors to make the science more clear.

I especially enjoyed that the book (and the team doing the research) brought in an ethical perspective from the very beginning. Noting that examining genes for medical purposes has implications beyond the patient, they considered how genetic counseling and informed consent needed to be approached.

My favorite aspects were the focus on helping families with undiagnosed diseases. As the book points out, the uncertainty of having no diagnosis is such a strain. I was also fascinated to learn about the latest developments in precision medicine and CRISPR.