Medical Genetics in Pediatric Practice - Softcover

American Academy Of Pediatrics

9781581104967: Medical Genetics in Pediatric Practice

Softcover

ISBN 10: 1581104960 ISBN 13: 9781581104967

Publisher: American Academy of Pediatrics, 2013

Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else.

Consult this one-stop problem-solver for:
- Must-know basics on genetic processes, inheritance patterns, and genetic testing
- Concise summaries of common genetic disorders
- Recognition, evaluation, diagnosis, and treatment how-to's
- Illuminating images of anomalies that may indicate genetic conditions
- Case-based examples of ethical issues

Here's the how, why, where, and when of pediatric genetic care:
- How to recognize diverse genetic disorders
- How to take a complete genetic history
- How to spot at-risk patients
- Why to create a pedigree
- When to consider a genetic evaluation
- How to conduct genetic screening and testing
- How to identify appropriate therapeutic approaches
- Where to find critical resources
- When to refer to a geneticist
- And much more!

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About the Author:

Born and raised in the Chicago area, Bob Saul graduated from Colorado College (Colorado Springs, CO) and from the University of Colorado School of Medicine. He completed a residency in pediatrics at the Duke University Medical Center and a fellowship in genetics at the Greenwood Genetic Center. He was in Greenwood, SC from 1979 until 2013 at the Greenwood Genetic Center and also practiced pediatrics for 24 years. He is currently the Medical Director of General Pediatrics, Senior Medical Director of Medicaid Practices, and Clinical Professor of Pediatrics at the Children’s Hospital, Greenville Health System and the University of South Carolina School of Medicine – Greenville. He was the Chair of the Section on Genetics and Birth Defects and the Committee on Genetics of the American Academy of Pediatrics and served as project co-director of the AAP Genetics in Primary Care Institute. He serves on the AAP National Conference and Exhibition Planning Group. He edited the AAP policy manual Medical Genetics in Pediatric Practice, which received an honorable mention in the American Medical Writers Association Medical Book Awards for 2014. He was recently accepted into membership of the American Pediatric Society.

Review:

94 - 4 Star Doody's Review!
Derived from the American Academy of Pediatrics Policy Guidelines, this is a detailed compilation of current genetic information with magnificent illustrations designed to be used as a consultative source for pediatricians.

Dr. Saul and the unique group of contributors suggest guidelines that can be used by pediatricians to apply current genetic knowledge in their practices. This is a much-needed service and a highly difficult task. The authors have opted for an all-inclusive approach which places the book at risk of not being as practical for general pediatricians as it could be. On the other hand, it is a wonderfully written medical genetics book that reviews basic concepts and promotes the involvement of general pediatricians in the treatment and recognition of genetic disorders.

The American Academy of Pediatrics endorses this publication as a resource that should be available to general pediatricians to help them incorporate medical genetics into their practice. The target audience is clearly pediatricians in general. However, the detailed information the book includes may also be helpful to medical genetics residents and pediatric residents early in their education. Dr. Saul is a well-known medical geneticist who has recruited a high quality team of contributors to the book, all recognized as experts in the field.

The book moves from basic science to clinical genetics, covering basic concepts of human genetics in the early chapters, clinical genetics in the midsection, and concluding with genetic counseling and additional resources. Of particular interest is the dysmorphology section, which is beautifully illustrated with wonderful clinical photographs. Although there are not clearly innovative features, the glossary is extensive and very useful, as are the unique appendixes such as the initial genetics screening evaluation.

This is a wonderful, well-planned book. This is an invaluable tool, and it should be on the must-have list for all those interested in current information on human and medical genetics.

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