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Genetics Update for the Next Gene ration Clinician (A Compilation of Articles from Genetic Clinics) Editor Dr Prajnya Ranganath Associate Editors Dr Dhanya Lakshmi N Dr Shagun Aggarwal Foreword & Guidance Dr Shubha R Phadke Published by The Society for Indian Academy of Medical Genetics (SIAMG) Genetics Update for the Next Generation Clinician Editor Dr Prajnya Ranganath Associate Professor & Head, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad Associate Editors Dr Dhanya Lakshmi N Assistant Professor, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad Dr Shagun Aggarwal Associate Professor, Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad Foreword & Guidance Dr Shubha R Phadke Professor & Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow President, Society for Indian Academy of Medical Genetics, Editor, Genetic Clinics Preface his book is essentially a compilation of happening on an almost daily basis, an attempt interesting and clinically relevant review has been made to update them to the extent Tarticles from past issues of Genetic possible. Clinics, which have been put together to serve as a quick reference guide for medical genetics- I sincerely thank the Associate Editors Dr related information. 'Genetic Clinics', the Dhanya Lakshmi and Dr Shagun for their help quarterly journal of the Society for Indian with the compilation and editing of this book. I Academy of Medical Genetics (SIAMG), is being am also extremely grateful to Dr Shubha regularly published since July 2008 and is now Phadke, Editor of Genetic Clinics, for her in its tenth year of publication. It was started guidance and inputs, and my colleagues in the with the objective of providing comprehensive Editorial Board of Genetic Clinics (Dr Ashwin and updated information about various aspects Dalal and Dr Girisha KM) for their help. I would of medical genetics to clinicians and basic also like to express my sincere thanks to Mr scientists in an easily readable and Girish MP and Dr Niranjana from Fastbucks understandable format, and over the years has Services, Bangalore, for the technical support covered many topics of practical interest. and Genzyme, India for the funding support, without which this book would not have seen This selection of articles from Genetic Clinics the light of day. covers diverse aspects of medical genetics such as principles of genetic tests, approach to This book is the brainchild of Professor Shubha common genetic conditions, prenatal and Phadke (President - SIAMG) and other reproductive genetics etc., that are of practical Executive Committee members of SIAMG. We, importance and clinical relevance, and can be the members of the editorial team, have tried used as a desk-guide by clinicians. Some of our best to bring it to fruition and we sincerely these articles were originally written a few hope that our readers would benefit from this years back and as medical genetics is a rapidly endeavour. evolving specialty with technological advances Dr Prajnya Ranganath Editor Foreword 'Paralearning' through the Landscape of Medical Genetics am glad to introduce this bouquet of articles on different aspects of medical genetics to the audience of medical doctors and basic scientists interested in the latest Idevelopments in genomic medicine. The tremendous developments in deciphering the genome and identifying phenotypic effects of genomic variations have brought genetics to the clinic. The diagnosis and management of genetic disorders namely monogenic disorders and chromosomal disorders have got a big impetus due to genomic techniques like next generation sequencing and microarray. The same techniques have revolutionized research and patient care of cancers, multifactorial disorders and infectious disorders leading to a paradigm shift in medical practice. We are glad that these exciting developments in technology and the scientific and clinical expertise to use it are now available in India. The medical practitioners therefore have to update themselves to this new platform of clinically applicable knowledge. The pace of developments is too fast to keep oneself updated even for medical geneticists. 'Genetic Clinics', a three-monthly publication, has been a continued and regular effort of the Society for Indian Academy of Medical Genetics (SIAMG) to disseminate Dr Shubha R Phadke knowledge of the latest developments in medical genetics to interested doctors, students and scientists. The articles on Professor and Head, clinically relevant aspects of diagnosis and management of Department of Medical Genetics, genetic disorders as well as scientific marvels are presented in an easy-to-read fashion. We have selected some articles relevant to Sanjay Gandhi Postgraduate the present time from the previously published issues of Genetic Institute of Medical Sciences, Clinics and have compiled them in the form of a book. This Lucknow, India. compilation of articles will give an overview of clinical genetics and President, Society for Indian genomic diagnosis to make one interested and excited about the Academy of Medical Genetics field. Most of the articles chosen are on clinical aspects and will make one comfortable in approaching patients and families with Editor, Genetic Clinics genetic disorders. The articles on use of latest technology for diagnostics are meant to clarify the principles of the tests and hence provide the clinician the power to order the appropriate test in each situation, and interpret the results with a good understanding of the limitations. Pre-test and post-test counseling are extremely important in the pre and post-natal evaluation of genetic disorders. Addition of practical genetic counseling scenarios, practical questions, photo quiz and crosswords has been done to improve understanding and add fun to the learning process. I am sure the book will provide a good overview of genomic medicine and give clinicians an opportunity to update themselves on clinically relevant genetics-related topics. The objective is to enthuse the medical fraternity in India about genetics, so that they continue to learn with 'Genetic Clinics' in the future. I feel that reading of the book can be compared with paragliding over the beautiful landscape of genomic medicine and I am sure everyone will enjoy this 'paralearning' experience. Shubha Phadke 8th December 2017 A Leader in SPECIALTY CARE Sanofi Genzyme is the specialty care global business unit of Sanofi, focused on Rare Diseases, Multiple Sclerosis, Oncology and Immunology. We help people with debilitating and complex conditions that are often difficult to diagnose and treat. We are dedicated to discovering and advancing new therapies, providing hope to patients and their families around the world. 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