by Helen V. Firth (Author), Jane A. Hurst (Author)

In the field of genetics and genomics medicine, having reliable and up-to-date information at your fingertips is crucial. That’s where the book “Oxford Desk Reference: Clinical Genetics and Genomics” comes in. Written by Helen V. Firth and Jane A. Hurst, this book is designed to be a practical and easy-to-use guide for clinical consultations in the field of genetics and genomics medicine.

One of the standout features of this book is its accessibility. The A to Z format ensures that information is easy to find, while the simple layout makes it easy to understand and assimilate. Whether you’re a seasoned professional or a student just starting out in the field, this book is designed to be a valuable resource for all levels of expertise.

One of the strengths of this book is its strong evidence base and adherence to international guidelines. The authors have done their due diligence in researching and referencing the most reliable and trustworthy sources, making this book a valuable tool for clinical practice. When you consult this book, you can be confident that the information you’re getting is backed by solid evidence and is in line with international standards.

The second edition of this book is an eagerly anticipated update of the gold standard in the specialty. It takes into account the latest developments in the field, including the advent of genome-wide sequencing and major updates in cancer. The authors have also added fifteen new topics, including Sudden cardiac death, Neonatal screening, and Ciliopathies. This ensures that the book remains relevant and up-to-date in a rapidly evolving field.

In terms of content, this book covers a wide range of topics relevant to genetics and genomics medicine. It provides a practical clinical approach to many common genetic referrals, both outpatient and ward-based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies, and syndromes are all covered, with diagnostic criteria included where available. The book also includes chapters on familial cancer and pregnancy-related topics, such as fetal anomalies, teratogens, prenatal, and pre-implantation diagnosis, and non-invasive prenatal testing.

Whether you’re dealing with a common genetic disorder or a more complex situation, this book provides the information you need to manage the case effectively. The authors have drawn on their own experience in the field to provide practical and pertinent guidance in a range of scenarios.

Overall, the “Oxford Desk Reference: Clinical Genetics and Genomics” is an essential companion for anyone working in the field of genetics and genomics medicine. Its accessibility, evidence-based approach, and comprehensive coverage make it an invaluable resource for clinical consultations. Whether you’re a student, a healthcare professional, or a researcher, this book is sure to become an essential tool in your practice.

Order your copy of “Oxford Desk Reference: Clinical Genetics and Genomics” today and take the first step towards enhancing your knowledge and skills in this dynamic field. With this book by your side, you’ll have the confidence and expertise to tackle any genetics or genomics case that comes your way.