Harper's Practical Genetic Counselling

Citation

Clarke, A. (2019). Harper's Practical Genetic Counselling (8th ed.). CRC Press.

Chapter Summary

The eighth edition has 35 chapters in four parts (about 540 pages), followed by a glossary and two appendices: "Further Reading and Information" and "Practical Genetic Counselling – The Life Story of a Book". It was fully revised by its new author, Angus Clarke, with additional input from colleagues, and keeps the framework of earlier editions.

Part 1: General Aspects of Genetics and Genetic Counselling (Chapters 1–12)

The first part covers the general content of counselling practice. Chapter 1, "Genetics and Genetic Counselling: An Introduction", is followed by chapters on Mendelian disorders, common disorders, and chromosome abnormalities, and by "Genetic and Genomic Investigations", "Dysmorphology and Genetic Syndromes" and three chapters on testing: "Carrier Testing", "Predictive Genetic Testing" and "Prenatal Diagnosis, Antenatal Screening and Reproductive Aspects of Medical Genetics". The part closes with "Special Issues in Genetic Counselling", "Clinical Genetics Services" and "Treatments and Trials for Genetic Disease".

Part 2: Genetic Counselling: Specific Organ Systems (Chapters 13–28)

Sixteen chapters take the system-by-system view: neuromuscular disorders; central nervous system disorders in children and neurodevelopment, and adult-onset and psychiatric disorders; bone and connective tissue; oral and craniofacial disorders; skin; eye; deafness; cardiac and cardiovascular disorders; respiratory disorders; the gastrointestinal tract; renal and urinary tract disease; endocrine and reproductive disorders; inborn errors of metabolism; disorders of blood and immune function; and environmental hazards.

Part 3: Genetic Counselling and Testing for Cancer (Chapters 29–32)

Four chapters: "Cancer as a Genetic Disorder", "Colorectal Cancer Syndromes", "Breast and Ovarian Cancer" and "Rare Mendelian Cancer Syndromes and Other Cancers".

Part 4: Genetic Counselling in Context: The Broader Picture (Chapters 33–35)

The closing part widens the lens: communication in genetic counselling, population aspects of genetic counselling and genetic screening, and "Genetics, Society and the Future". The glossary and the appendices follow, the second of which tells the history of the book itself.

Key Concepts

Part 1: General Aspects

• Genetic counselling in Mendelian and common disorders: separate chapters apply counselling to single-gene conditions and to common, multifactorial disease.
• Genetic and genomic investigations: the chapter on tests that the publisher says now include new genome-based investigations and their use in counselling.
• Carrier testing, predictive testing and prenatal diagnosis: three chapters on testing for different purposes.
• Clinical genetics services and treatments: how services are organized and what treatments and trials exist for genetic disease.

Parts 2–4: Systems, Cancer and Context

• System-by-system counselling: Part 2 orders the clinical conditions by organ system.
• Cancer genetics: cancer is treated as a genetic disorder with its own syndromes (colorectal, breast and ovarian).
• Communication, populations and society: the final part treats how information is communicated, how screening works at population level, and ethical and social direction.

Critical Analysis

Strengths

• Counselling and clinical content together. Part 1 sets out general principles, testing and services, while Part 2 and Part 3 apply them to named conditions, so one book serves both the method of counselling and the conditions that arise.
• Updated for genomic testing. The publisher states that the eighth edition presents the latest information on the use and interpretation of genetic test results, including new genome-based investigations and their application in counselling.
• A wide intended readership. The publisher addresses trainee and practising genetic counsellors and medical geneticists, clinicians and nurses in mainstream specialties who deal with genetic aspects of disease, practitioners where referral to a genetics specialist is not readily available, and other professionals including social scientists, ethicists and laboratory staff.
• Attention to ethics and communication. The publisher notes psychosocial and ethical considerations, and Part 4 devotes chapters to communication, screening at population level, and genetics and society.

Limitations

• Mainly text. The publisher lists one black-and-white illustration, so the book is primarily prose; readers who learn from diagrams will want a visual text alongside it.
• A reference organized by system. The 16 system chapters of Part 2 are meant for consultation when a family presents with a particular condition, not for continuous reading.
• Genomic practice changes quickly. Testing methods and guidance described in a 2019 edition will need checking against current services and guidelines.
• Practice rather than foundations. The chapter list begins with counselling itself and moves quickly to Mendelian disorders from a counselling viewpoint, so students new to inheritance and genomics will want a general genetics textbook first.

Where It Fits in the Course

Harper's is the practice-oriented book in the medical genetics list. Clinical Genetics and Genomics at a Glance is a visual introduction using double-page spreads, and New Clinical Genetics is a case-based introduction starting from real families. Emery's Elements of Medical Genetics and Genomics and Thompson & Thompson Genetics and Genomics in Medicine are textbooks that cover inheritance, genomic science and clinical use; Emery's also covers the assessment and counselling of affected families. Human Molecular Genetics is the advanced treatment of the molecular side.

Read Harper's after one of the general textbooks: those explain how conditions are inherited and how variation causes disease, and Harper's shows how that knowledge is used with a family, from establishing a diagnosis and estimating risk to discussing testing and reproductive options.

How to Use This Book

The book suits trainee genetic counsellors, medical genetics trainees, and clinicians who meet inherited conditions in other specialties. A grounding in Mendelian and chromosomal inheritance, from a general medical genetics textbook, makes the book easier to use.

• Core reading: Chapters 1–5 (introduction, Mendelian and common disorders, chromosome abnormalities, investigations), then Chapters 7–9 on carrier, predictive and prenatal testing.
• Practice and context: Chapter 10 on special issues, Chapter 11 on clinical genetics services and Chapter 33 on communication; read Chapters 34–35 alongside discussions of screening and ethics.
• Reference use: Part 2, by organ system, when preparing for a specific clinic or case; Part 3 for family history of cancer.
• Back matter: use the glossary for terms, and Appendix 1 for further reading and information.
• Alongside the book: observe clinic sessions if possible and practise risk estimation and explaining results with worked examples.