Book Review

Alejandra Manjarrez

Joel Dudley & Konrad Karczewski:
Exploring Personal Genomics.

Paperback: 296 pages
Publisher: Oxford University Press, USA; First Edition edition (March 1, 2013)
Language: English
ISBN-10: 0199644497
ISBN-13: 978-0199644490
Price: 44.44 EUR

Will the general interest in genomic data fuel a gold rush on genomes? Photo: Historic

Hold on to your Genome!

Exploring and understanding our own genomes might soon become a common hobby. Get ready for armchair genomics!

Have you ever thought about sequencing your own genome? Ten years ago, it would have cost you tens of millions of euros (and required a good relationship with an academic laboratory). Today, the price has dropped to just a few thousand euros. Sequencing human genomes has become routine work. But what’s in it for you?

In Exploring Personal Genomics, the genome scientists Joel Dudley, Director of Bioinformatics and Assistant Professor at Mount Sinai School of Medicine in New York, and Konrad Karczewski, PhD student also at Stanford, try to give an answer. They offer a detailed review that will help both genomics newbies and experts to have a better picture of what their genome sequences can offer them today.

How accurate are the predictions?

As the price of genome sequencing has fallen, initial expectations have also dropped. Scientists have realised that knowing the order of each nucleotide in a genome does not exactly predict the future. One reason is that we are still not able to understand completely the language used by the DNA. Secondly, there are many other levels of regulation and interactions in life that affect us as individuals.

These limitations are stated in the book. The genome can be helpful in understanding an individual’s ancestry or predisposition to a certain disease, but how accurate are the predictions? Throughout the chapters, and sometimes using their own genomic data for explaining concepts, Dudley and Karczewski review from A to Z the tools we currently use to obtain and interpret genome information. They describe technologies, companies, types of genome analyses and highlights from the incredible amount of research done around personal genomics. They mention that in some cases the level of error or bias can be high and they even show how variable genetic testing for certain traits can be when we choose one company or another.

The cost for sequencing a genome has fallen significantly since 2007. Image: NIH/Nat. Hum. Gen. Res. Inst.

Too complex? The level of technical details presented in the book might be high for someone who is only interested in knowing about what their DNA sequence can tell them. By looking at all the challenges behind this scientific and technological development, however, the reader can definitely grasp the current limitations of genome analysis.

Throughout the book, the authors emphasise the relevance of personal genomics for a new generation of medical students. Your Lab Times reviewer agrees with them. People working in medicine and health sciences should read this book and get involved in the field. Although everyone should have access to this type of knowledge, health professionals hold a responsibility in the new information era. More­over, universities should promote this knowledge in medical schools, something that is still not happening everywhere.

Some of the medical topics tackled are the reality and myths about genetic disease associations, how genomic data could improve pharmacological treatment and how the environment and personal habits can modify what we read in our genome.

Understanding is the best tool

On the other hand, anyone unfamiliar with the topic, but with the desire to learn more about what they could find in their own genome, can start learning from scratch by reading this book. The authors give an introduction to basic concepts of genetics and genomics and do not assume any prior knowledge. Nonetheless, the book can get really technical and detailed for a newbie. It might, for some people, work better to have the book for dipping into in case a particular type of testing is needed (ancestry, medical risk, etc.). One would then certainly be more informed when encountering companies’ advertisements or statements such as the one offered by Angelina Jolie this year regarding her decision to undergo a double mastectomy after she learned of a genetic predisposition to breast cancer.

Decisions derived from genomic data are influenced by many factors, but know­ledge is the best tool for those engaging in genomic testing.

As a continuously changing topic, it is difficult to assess how frequently Exploring Personal Genomics will need to be updated to keep pace with state of the art of genomics. At least for now it fulfils the requirements. In any case, the authors invite readers to visit the book’s website

Letzte Änderungen: 17.09.2013