Medical Genetics and Genomics

By Michael J. Bamshad MD, Lynn B. Jorde PhD, John C. Carey MD MPH

Known for its up-to-date coverage of both basic science and clinical application, Medical Genetics and Genomics, 7th Edition, has been fully revised to reflect recent advances in the genetics of common diseases, as well as current progress in genetic testing and gene therapy. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more-all designed to enhance effective learning and retention of complex materia.Discusses topical issues such as polygenic scores and their potential uses in the diagnosis and treatment of diseases such as diabetes, cancer, and heart disease, along with the latest advancements in sequencing technologies and their role in genetic testing and diagnosisProvides an up-to-date discourse on the modes and applications of genetic testingContains useful concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatmentFeatures a larger quantity of Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated coursesUses examples of diseases to illustrate important concepts, demonstrating their relevance to medicineStudy questions for self-assessment are provided within the print book, as well as 200 additional USMLE-style questions onlineAn eBook version is included with purchase. The eBook allows you to access all of the text and figures, with the ability to search, customize your content, make notes and highlights, and have content read aloud

• Format: Paperback
• Language: English
• ISBN: 0443115168
• ISBN13: 9780443115165
• Release Date: February 2026
• Publisher: Elsevier
• Length: 416 Pages
• Weight: 0.99 lbs.