Human Genetics Concepts and Applications

Human Genetics Concepts and Applications

Ricki Lewis Genetic Counselor / CareNet Medical Group / Schenectady, New York / Adjunct Assistant Professor of Medical Education / Alden March Bioethics Institute / Albany Medical College  / Writer, Medscape Medical News  Blogger, Public Library of Science

Human Genetics Touches Us All
When I wrote the first edition of this book, in 1992, I could never have imagined that today, thousands of people would have had their genomes sequenced. Nor could I have imagined, when the first genomes were sequenced a decade later, that the process could take under a day, for less than $1,000. Of course, understanding all the information in a human genome will
take much longer.
Each subsequent edition opened with a scenario of two students taking genetic tests, which grew less hypothetical and more real over time, even reaching the direct-to-consumer level. This new edition reflects the translation of gene and genome testing and manipulation from the research lab to the clinic.
The eleventh edition opens with “ Eve’s Genome ” and ends with “ Do You Want Your Genome Sequenced? ” In between, the text touches on what exome and genome sequencing have revealed about single-gene diseases so rare that they affect only a single family, to clues to such common and complex conditions as intellectual disability and autism. Exome and
genome sequencing are also important in such varied areas as understanding our origins, solving crimes, and tracking epidemics. In short, DNA sequencing will affect most of us.
As the cost of genome sequencing plummets, we all may be able to look to our genomes for echoes of our pasts and hints of our futures—if we so choose. We may also learn what we can do to counter our inherited tendencies and susceptibilities. Genetic knowledge is informative and empowering. This book shows you how and why this is true.
Ricki Lewis