Dhavendra KumarSir David Weatheral

Genomics and Clinical Medicine ISBN: 978-0-19-518813-4 $ 175 Published by: Oxford University Press: Oxford, UK: 2008

In the past few years, progress in many fields, including biology, biological engineering, informatics and physics has led from genetics to a wider field, in which the totality of an organism's genes can be considered as a global system in which different components interact with each other and with external factors. The complete genome of Homo sapiens and many other eukaryotic and prokaryotic organisms has been sequenced and stored in public databases. Technological advances have led to many improvements already evident in the results that have been obtained over the past few years from different fields of biological research, such as the different associations between genes and diseases that have emerged from Genome Wide Association Studies.

We are experiencing a real genomics revolution. This is the rationale on which ‘Genomics and Clinical Medicine’ is based while taking the reader through a survey of the most recent discoveries in genomics and its applications to clinical medicine.

This is a 672 pages multi-author book to which a team of 69 experts from different fields of medical genetics have contributed and is edited by Dhavendra Kumar under the advice of Sir David Weatherhall.

The book is structured in 41 chapters grouped into three parts: first, an introductory part in which the general aspects of genomics are explained in nine chapters. Second, a section of 28 chapters in which a general survey of the clinical applications of genomics divided into different disciplines of medicine is provided. Last, a third section of four chapters in which the potential and the impact that genomic applications will have on public health in the coming years, including ethical and legal considerations, are examined.

The general genomics section ranges from a description of the history of genetics and the transition from genetics to genomics to a general description of the genome's known structure and organization, its functional organization, proteomics and epigenomics. The technologies to study genome variations of different orders of magnitude are also considered. In addition, the perspectives of human development and comparative genomics applied to a better understanding of developmental malformations and more, in general, the perspectives of genetic and genomic approaches to the taxonomy of human diseases, are considered. Finally, an overview of nutritional genomics and pharmacogenomics is also given.

The clinical genomics section is a vast survey across different fields of medicine; for each of them, the genetic component is considered and the current state of the art is described. The introductory chapter of this section underlines the importance of bioinformatics on data analysis in different fields of genomics, transcript analysis and proteomics, and the potential of its applications to the current practices of medicine, including diagnostics, therapeutics and prognostics.

The last section is a global view of what the impact of genomics will be on global health. First, through its improvement in developing countries by the control of common monogenic disorders and the control and management of communicable diseases, and second, through its reflection on the diseases of ‘Westernization’, such as type II diabetes, cardiovascular diseases and stroke. These are all because of the same environmental factors, but reflect different patterns of genetic variability due to varying patterns of evolutionary adaptations in different ethnic groups. A whole chapter is dedicated to the concept of genetic testing and genomic screening, enlisting the criteria that render a genetic test or a genomic screening worthwhile. A chapter is dedicated to ethical, legal and social issues, emphasizing the importance of a valid consent from individuals, in terms of information, understanding, will and competence, all human rights of the patient that are not always easy to respect. Security, confidentiality and data and benefit sharing are all important aspects that have to be considered when saving clinical and biological information in a database.

The last chapter considers the regulation of genomics research, giving an overview of the legal framework in the United Kingdom and United States, concluding that, until now, the law has been confusing and incomplete. We will need new developments in the regulation of medical research to manage the amount of information that is already available, thanks to quick developments in the full respect of human rights.

In conclusion, the book is a nice overview of developments in different fields of genomic medicine, written by a number of experts who give a thorough description of their argument. As the editors themselves recognize, given that each month the amount of information about genomics increases, thanks to advances in technology, bioinformatics and biostatistics, to analyze large amounts of data at the same time, frequent updates will be needed. To use a statement taken from the book itself, the genomic era has just begun▪