Author Description
This book on clinical genetics and genomics includes many common-sense approaches, useful standards and definitions, suggestions for appropriate testing, and excellent references. It is meant to be 'first-line' support. It is designed to provide a basic guide to the clinical consultation, be it in outpatients or on the ward, and is intended to be used with other data sources, web resources, and texts. Blank pages are distributed throughout the book to enable the reader to update and personalize the copy with notes from current journals, guidelines, seminars, and lectures. Medical genetics trainees, residents, and fellows should particularly find this book useful; the mature and experienced clinical geneticist should also find it useful and thoughtfully constructed
Menrva's Summary
THE THESIS
This text serves as a foundational clinical resource designed to standardize the approach to genetic and genomic consultations in both outpatient and inpatient settings. Authors Helen V. Firth and Jane A. Hurst provide a structured framework for medical trainees and practitioners to navigate complex diagnostic scenarios. The book emphasizes practical application, integrating established definitions and testing protocols to support clinicians during active patient care.
THE SCOPE MAP
What You Will Find
- Standardized definitions and clinical terminology for genetic conditions
- Guidelines for appropriate genetic testing and diagnostic workflows
- Practical strategies for conducting effective clinical consultations
- Integrated space for personal annotation and updates from current literature
Scope Limits
- Does not function as a comprehensive encyclopedia of all rare genetic disorders
- Requires supplementation with external web resources and specialized databases
THE AUTHORITY PERSPECTIVE
Experts and medical educators frequently cite this work as a highly practical, first-line reference for trainees and fellows navigating the complexities of clinical genetics. Readers often note the utility of the book's interactive design, which allows for the integration of rapidly evolving genomic research into a stable clinical framework.
Page Count:
877
Publication Date:
2017-01-01
ISBN-10:
0191742457
ISBN-13:
9780191742453
Medical
Reference
Genetics
Genomics