Human Genetics, second edition (BMS)

Human Genetics 2e begins by describing basic human genetics, introduces the variety of techniques available for disease diagnosis and details how these are used in the lab, before concluding with information on prenatal diagnosis, genetic counselling and ethical considerations. As such, the book is the ideal handbook for biomedical science students and for anyone working in a diagnostic genetics lab.

This second edition has been comprehensively rewritten to take into account the major changes in recent years, particularly with regard to human molecular genetics:

• greater coverage of recently identified genes and their role in disease
• updated to include an expanded section on breast cancer
• expanded description of epigenetics including methylation and acetylation
• updated to include all the latest diagnostic tools: QF-PCR, MLPA, RT-PCR, microarrays, etc.
• more on the impact of genetics on society; ethics and dilemmas
• full colour photographs have been included to allow readers to see real laboratory results

If you need to know the difference between SNPs and CNVs, when to use QF–PCR or microarrays, or wondered which screening method to use for mutation detection, then you need to read this book.

Reviews:
"This revised edition of Human Genetics covers an impressive variety of topics within the field, and would certainly be suitable for an audience ranging from basic science undergraduates to people working within genetics in the medical profession...The material in this book is clearly laid out, and provides a comprehensive overview of the subject. The explicit list of learning objectives at the start of each chapter will be valued by students and teachers alike, and the explanatory sentence or two after each one provides a quick reference to the key take-home messages. Within the text, important facts and definitions are highlighted in boxes, and reinforced by straightforward and logical figures. The authors acknowledge that this is an introductory text, but also provide key references to further reading, enabling readers to easily expand their knowledge in specific areas of interest, yet achieving a fundamental grasp of the areas being presented. This further reading, along with the incredibly valuable self-assessment questions, will allow students to identify and address the limits of their knowledge.
The emphasis on genetic disorders throughout the book will make it relevant to those studying the science of human genetics, but also to medical students throughout their studies. The glossary of disorders at the end of the book provides an excellent quick reference point, and the comprehensive list of internet sites directs the reader to many other well recognised resources for further information. In the age of information overload via the internet, such a list is incredibly valuable for helping students assess the quality of the information they are retrieving from online sources...This book will appeal to anyone with an interest in human genetics, particularly those approaching the subject from the point of view of a diagnostic laboratory."
Dr Sally Chappell, IJMEG, April 2010

"Advances in genetics are continually being made, and Human Genetics provides an overview of up to date practice within this field. It reviews the basics of DNA, different modes of inheritance and gene function. This volume takes the reader through the different techniques used in both molecular genetics and cytogenetic laboratories, concluding with the clinical aspects of genetics. All aspects are clearly explained using diagrams and photographs to achieve clarity and promote understanding.
This book acts as a good reference and revision guide for those working in the genetics field or for those new to genetics. It would also be useful to undergraduates in biomedical sciences, providing a quick reference guide to complement other text books in the field of genetics, which individually study the different areas outlined in Human Genetics in more detail.
Human Genetics is easily navigated with clear chapters broken down into individual sections. It allows the reader to dip in and out of the book as required, yet at the same time, ensures that each area can be studied in more detail. The quick reference guide of conditions at the back of the book will be of particular value for clinicians. It not only gives a brief outline of the clinical aspects of the different conditions, but it also clearly states which laboratory techniques are used in the diagnosis of each condition. This will be invaluable for any clinician requesting testing, but unsure exactly which test is needed, and therefore uncertain as to what sample should be taken from the patient. Although this book provides an overview, it does, however, point the reader in the right direction to find more information on each individual area both through further reading and internet resources.
The chapter on mechanisms of disease may not be new to scientists, but for those working in the clinical field without a strong science background these concepts may be fairly new to them. Human Genetics will aid in their understanding of different conditions, and the reports issued enabling them to translate this in a clear manner to patients.
Throughout the book clear illustrations are used to clarify the techniques described and complement the text. It is particularly helpful to have ‘true to life’ pictures when the authors have described certain techniques, such as raw DNA sequence information as well as some of the cancer genetics techniques. These can only be truly understood by seeing a realistic output of the data to be analysed.
The book is clearly written from a scientific perspective and, although it touches on some of the aspects of clinical genetics, it is important to realise that this is only very brief. This is the weaker side of the book, and so anyone in the clinical field would certainly need to be exploring clinical issues further, particularly in relation to complex family issues and the psychosocial aspects of genetic counselling.
This book would be a useful text for those studying biomedical sciences or a Masters course in genetic counselling. Although there is no great depth to the book, and students will need to look elsewhere for more comprehensive texts on particular aspects, it does bring together the laboratory and clinical aspects of genetics. It also traces the path from the original discussion with a patient, through sample extraction to the laboratory techniques as well as exploring the mechanisms underlying the origin of the relevant genetic changes."
C. Kirwan, Human Genetics, vol. 128, August 2010

"In order to evaluate a book one should know its intended audience. The preface to this book says that it, as was the first edition, should be relevant to first year undergraduates and newcomers to the medical profession; it is intended as an introduction to human genetics, to supplement other basic textbooks. The implication that the reader should already have a grounding in basic genetics is well founded. I doubt that the introductory chapters on cytogenetics (which gets into exons and introns) and molecular genetics would be understood without a previous grasp of the relation between the DNA triplet sequence  in a gene with the amino-acid sequence of the corresponding protein.

The authors have done a commendable job of updating the remarkable advances in molecular genetics of the past few years, ranging from new epigenetic insights, through automated techniques for high through-put screening, to the use of microarrays in molecular cytogenetics. But scanning of the volume suggests that it would be more suitably directed to laboratory, rather than clinical geneticists. There is, for example,  a full page box listing the constituents of a culture medium, more suited to a lab manual than a text book. Nowhere does the book list the credentials of the authors, but a Google search reveals that Dr Davies is Head of Laboratories at the Southmead Hospital, Bristol, UK.

Laboratory geneticists should find the sections on molecular cytogenetics (FISH, CGH), molecular genetics (Southern blotting, PCR), cancer genetics, and prenatal diagnosis particularly useful. Clinical geneticists may appreciate them as a source of information about what lies behind the reports of molecular diagnoses they receive from the laboratories.

Clinical geneticists would be better off to turn to one of the other texts recommended at the ends of each chapter. Multifactorial inheritance gets short shrift, having only a few sentences in a section entitled “Gradation of Inheritance”. And multifactorial conditions are not in the list of reasons for referral  to genetic services – presumably because they usually do not engender requisitions for laboratory tests. The chapter on genetic counseling does not mention the use of empirical recurrence risks in genetic counseling, or include anything about its psychodynamics.

There are remarkably few typographical errors (I only found one), and a few unclear or incorrect statements. The colored illustrations are of good quality, and some are beautiful, including that on the cover, but the black and white ones need some improvement. In recognition of our increasing predilection for abbreviations, the book begins with a useful two and a half page list of them."
F. Clarke Fraser, American Journal of Medical Genetics, Part A, July 2010