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Book Review of Thompson & Thompson’s Genetics and Genomics in Medicine, 9th edition (Elsevier).

The expansion on the field of genetics and genomics is reflective to the changes of the average 6.4 years between each of the nine editions of this book, since its inception in 1966.  The new revised Thompson & Thompson’s Genetics and Genomics in Medicine, 9th edition, published by Elsevier, presents an invaluable textbook on the subject of genetics and genomics in medicine, aimed  to “any medical genetic counselling student, advanced undergraduate, graduate student in genetics or genomics, resident in any field of clinical medicine, practicing physician, or allied medical professional in nursing or physical therapy”, presenting “the fundamentals of human genetics and genomics as applied to health and disease”.

This 9th new edition of the book is now expected to support a wider audience of students and practitioners alike, having done so admirably for almost 60 years. The book provides an excellent balance of theory and practice, allowing both the novice or the more experienced student, to learn and understand the concepts, acquire new knowledge, gain insight into the mechanics of molecular biology and the practical applications of genetics on human disease.  The practical applications, as outlined through “Clinical Cases” in this book, 49 in total, accommodates almost head to toe, from vision (Age-Related Macular Degeneration) to muscle wasting (Charcot-Marie-Tooth Disease) and beyond.

The text covers 20 chapters, including a new chapter from a previous edition on Principles of Clinical Epigenetics, from an earlier edition.  The chapters range from an Introduction to the Human Genome, chapters on structure and function, diversity and variation, Principles of Clinical Cytogenetics and Genome Analysis, Complex Inheritance of Common Multifactorial Disorders, chapters on population genetics, and the genetic basis for disease and inborn errors of metabolism, The Treatment of Genetic Disease and Genetic Counselling and Risk Assessment, and a chapter on Application of Genomics to Medicine and Individualized Health, and finally, Ethical and Social Issues in Genetics and Genomics.  Throughout the text, this edition provides beautiful illustrations for the explanatory content, including an excellent contribution of photographs and images from the Positive Exposureorganization (, a not-for-profit initiative collating a large portfolio of content from patient and family volunteers.  The book includes almost 600 pages, comprising 543 illustrations in full colour, and a section on Problems proposed at the end of each chapter with Answers to Problems at the end of the book. In addition, this 9th edition includes  a digital e-book copy, easily accessed through, with a code in the inside cover, and with additional features at the end of the back cover of the book

The new editors of the book, Ronald Cohn, Stephen Scherer and Ada Hamosh, has also summarised new content from previous editions, including:

(1)        moving from the study of genes to genomes in biology and testing;

(2)        increasing awareness of copy number and structural genomic variation in both the population and medical genomic context;

(3)        novel discoveries and application of the functional roles of non-coding RNAs, chromatin-regulation and epigenetics, and how their dysregulation can affect gene expression in disease;

(4)        genetic variation in world-wide populations;

(5)        latest technologies (e.g., genome sequencing) and statistical/informatics approaches, such as polygenic risk scores, used to resolve and interpret them, and;

(6)        the many new genetic diagnoses arising from application of these new principles and technologies (for example, genomic syndromes and ciliopathies).

Each chapter is overseen by a significant cadre of contributing authors working at the frontier of their field.  As a result, readers may expect to continue their education with Genetics and Genomics in Medicine as a “go to” reference for this foundational text for any new students, academics or professionals.

Copyright year: 2024; Book format: 216 width (mm) x 276 height (mm); ISBN# 9780323547628; Contributors #31.

Gearóid Tuohy B.Sc., Ph.D. (Genetics), M.Sc. (Clinical Trials & Statistics).
Director, Clinical Trials Research