Emery's Elements of Medical Genetics and Genomics

Citation

Turnpenny, P. D., Ellard, S., & Cleaver, R. (2021). Emery's Elements of Medical Genetics and Genomics (16th ed.). Elsevier.

Chapter Summary

The book has 22 chapters in three sections and runs to about 450 pages. Its publisher describes it as combining a grounding in practical clinical genetics with genomics, with case-based questions, multiple-choice self-assessment, end-of-chapter summaries and a glossary. The authors are clinicians working in genetics services in Exeter.

Chapter 1: The History and Impact of Genetics in Medicine

A stand-alone opening chapter that places genetics in the history of medicine and sets out why it matters to clinical practice before the three sections begin.

Section A: The Scientific Basis of Human Genetics (Chapters 2–9)

• Chapter 2: The Cellular and Molecular Basis of Inheritance and Chapter 3: Chromosomes and Cell Division lay out the cell biology and chromosome behaviour on which the rest of the book depends.
• Chapter 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes and Chapter 5: Laboratory Techniques for Diagnosis of Monogenic Disorders move from locating a disease gene to the laboratory methods used to diagnose single-gene conditions.
• Chapter 6: Patterns of Inheritance, Chapter 7: Population and Mathematical Genetics and Chapter 8: Risk Calculation form the quantitative core: how conditions are transmitted in families, how gene frequencies behave in populations, and how a family's risk is calculated.
• Chapter 9: Developmental Genetics closes the section by linking gene action to embryonic development.

Section B: Genetics in Medicine and Genomic Medicine (Chapters 10–15)

• Chapter 10: Common Disease, Polygenic and Multifactorial Genetics turns from single-gene disorders to conditions with many genetic and environmental contributors.
• Chapter 11: Screening for Genetic Disease covers population and targeted screening.
• Chapter 12: Haemoglobin and the Haemoglobinopathies and Chapter 13: Immunogenetics are two specialised areas treated as chapters of their own.
• Chapter 14: The Genetics of Cancer and Cancer Genetics deals with the genetic basis of cancer and with inherited cancer predisposition.
• Chapter 15: Pharmacogenomics, Precision Medicine and the Treatment of Genetic Disease addresses treatment, from drug response to therapies for genetic conditions.

Section C: Clinical Genetics, Counselling and Ethics (Chapters 16–22)

• Chapter 16: Congenital Abnormalities, Dysmorphic Syndromes and Intellectual Disability, Chapter 17: Chromosome Disorders, Chapter 18: Inborn Errors of Metabolism and Chapter 19: Mainstream Monogenic Disorders survey the conditions a clinical geneticist meets, grouped by type. The publisher notes that full-colour images help readers recognise the appearance of genetic disorders.
• Chapter 20: Prenatal Testing and Reproductive Genetics covers testing in pregnancy and reproductive options.
• Chapter 21: Genetic Counselling and Chapter 22: Ethical and Legal Issues in Medical Genetics finish with the communication of genetic information and the ethical and legal questions it raises.

Key Concepts

Section A: Scientific basis (Chapters 2–9)

• Monogenic disorders: conditions caused by variation in a single gene, whose causative genes are identified and diagnosed in the laboratory (Chapters 4–5).
• Patterns of inheritance: the ways in which conditions are passed through families (Chapter 6).
• Population and mathematical genetics: the behaviour of genetic variants in populations and the arithmetic that goes with it (Chapter 7).
• Risk calculation: working out the probability that a person or relative is affected or a carrier (Chapter 8).

Section B: Genetics in medicine (Chapters 10–15)

• Polygenic and multifactorial inheritance: common diseases that arise from several genes together with environment (Chapter 10).
• Genetic screening: testing populations or groups for genetic disease (Chapter 11).
• Pharmacogenomics and precision medicine: tailoring drug choice and treatment to genetic information (Chapter 15).

Section C: Clinical practice (Chapters 16–22)

• Dysmorphic syndromes: recognisable patterns of congenital abnormality (Chapter 16).
• Inborn errors of metabolism: inherited disorders of metabolic pathways (Chapter 18).
• Genetic counselling: the process of explaining genetic conditions, risks and options to patients and families (Chapter 21).

Critical Analysis

Strengths

• A clear three-part structure. The publisher divides the text into the scientific basis, genetics and genomics in medicine, and clinical genetics, counselling and ethics. A student can read the science first, or go straight to the clinical sections when a placement requires it.
• Case-based and self-assessment material. The sixteenth edition adds case-based studies with questions and answers throughout, alongside multiple-choice questions, summary boxes and a glossary, which supports revision and clinical reasoning.
• Quantitative topics given their own space. Risk calculation and population genetics have separate chapters (7 and 8), which is useful for students who must work out inheritance risks for a family and not just describe the pattern.
• Practising clinicians as authors. The editors are a consultant clinical geneticist, a consultant clinical molecular geneticist and a third colleague in clinical genetics, all at the same Exeter hospital trust, and the book gives a full chapter each to counselling and to ethical and legal issues.
• Moderate length. At about 450 pages with roughly 420 illustrations, most of them in colour, it is a manageable single text for a medical genetics block.

Limitations

• Genomic mechanisms are not the focus. The molecular and genomic content sits mainly in Chapters 2–5, and the contents list has no dedicated chapter on genomic variation or on epigenetics (the Thompson & Thompson list has a chapter on each). Students who want extended treatment of those topics will need another text alongside it.
• Dependence on prior genetics. The book starts from the cell and molecular basis of inheritance in a single chapter, so it works best for readers who have already met basic genetics.
• Specialised topics get one chapter each. Haemoglobinopathies, immunogenetics and inborn errors of metabolism each have a single chapter, which suits an overview but not a specialist course.

Where It Fits in the Course

Within the medical genetics course, this is a main text for the clinically oriented student. Thompson & Thompson Genetics and Genomics in Medicine is the other full textbook in the list; it is organised across 20 chapters with a separate section of clinical case studies, and the two are natural alternatives or companions, with Emery's built explicitly around clinical genetic practice, counselling and ethics, and Thompson & Thompson's list giving separate chapters to genomic variation, epigenetics and the molecular basis of disease.

Readers who find the starting point steep can begin with Clinical Genetics and Genomics at a Glance (double-page visual spreads) or New Clinical Genetics (a case-based introduction that builds the science from real families). Harper's Practical Genetic Counselling goes much further into counselling than Chapter 21, and Human Molecular Genetics is the place to go for molecular depth beyond Chapters 2–5.

How to Use This Book

The book suits medical and biomedical students taking a genetics or genomic medicine block, and also trainees and health professionals who need a clinical view of inheritance, testing and counselling. It assumes some prior cell biology and elementary genetics.

A practical plan:

• Core: Chapters 2, 3 and 6 for the biological and inheritance basics; Chapters 7 and 8 for the quantitative skills; Chapter 10 for common disease.
• Clinical sections: Chapters 16 to 22 can be read alongside clinical placements, with Chapter 21 and Chapter 22 read together.
• Selective reading: Chapters 12, 13 and 18 can be read when the corresponding system or specialty is being taught.
• Active use: work through the case-based questions at the end of the chapters, and practise the risk calculations by hand before looking at the worked answers.