GENETIC COUNSELING Clinical and Laboratory Approach
GENETIC COUNSELING Clinical and Laboratory Approach
Editor
Usha Dave PhD DHA
Senior Genetic Counselor
Board of Genetic Counseling India (BGCI)
Medical Geneticist and Neuroscientist Research Director MILS International India, Mumbai
Lab Director Scientific Operations, Navigene Genetic Lab
National Professor Haffkine Institute and PG Research Guide of Mumbai University Mumbai, Maharashtra, India
President-ISPAT 2021-23 (Indian Society for Prenatal Diagnosis and Therapy)
Co-Editor
Dhanlaxmi Shetty PhD PGDHMM PGDMLS
EBMG Board Certified Clinical Laboratory Geneticist and Associate Genetic Counselor
Board of Genetic Counseling India (BGCI)
Officer-in-Charge Cancer Cytogenetics Department
Advanced Centre for Treatment Research and Education in Cancer (ACTREC)
Tata Memorial Centre Navi Mumbai, Mumbai, Maharashtra, India
Forewords
McElreavey Ken David
Ishwar C Verma
Jaypee Brothers Medical Publishers (P) Ltd
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Genetic Counseling: Clinical and Laboratory Approach
First Edition: 2022
9789354652127
Printed at
We are currently living in the era of genomic revolution. This has been possible because large scale sequencing of either targeted human gene panels, all the coding sequences in the human genome (exome sequencing) or sequencing the human genome itself is now fast, accurate and cost effective. One of the consequences of this is the democratization of genomics. What was once possible only in a well-funded research laboratory is now available in the medical genetics departments of many hospitals. More than 500 new genetic causes of human disease are now added to Online Mendelian Inheritance in Man (OMIM) each year. At a cost of $600 or less for the sequence of an entire human genome, genomic data will only increase. The influence of these changes in medical genomics cannot be underestimated. At the time of writing, there are more than 6,000 human phenotypes with a known genetic cause. Generating massive amounts of genomic data that can be linked to human disease phenotypes is an obvious benefit for all the society, but it brings with it some unique problems. Genomic data is often highly complex, with multiple layers of subtlety. Who interprets the genomic data? How is this data transmitted in an informative, simple, and clear manner to patients and their families? These are some obvious questions.
This book Genetic Counseling: Clinical and Laboratory Approach brings together the experts in the field and covers every aspect of genetic counseling. This is a very timely publication. The volume has been intelligently devised to appeal to a wide audience in both the medical field and those with a specific interest in human genetics. The volume includes an introduction covering the basic information on the principles of human genetics and the practical implementation of this knowledge in genetic counseling. Other sections include, but are not limited to, a wide variety of congenital malformations, intellectual disability, neuromuscular and neurodegenerative disorders, inborn errors of metabolism, pregnancy loss and infertility. An emphasis is placed on the growing field of preconceptional and prenatal genetic counseling, as well as the hemoglobinopathies.
Advances in biology and particularly genomics are proceeding rapidly. Therefore, the volume also looks to the future and considers the recent positive developments there are in various gene therapy options.
The Editor of the book, Usha Dave, is a highly respected medical geneticist and genetic counselor who has over 3 decades of working on many different aspects of genetics in Indian populations. Such experience provides Dr Dave with a unique insight into the problems and opportunities of genetic counseling, particularly in populations as large and diverse as India. The book will serve as a reference in the field of genetic counseling for many years to come.
McElreavey Ken David PhD
Director, Human Developmental Genetics, Institut Pasteur, Paris, France
Director, Reproduction, Fertility and Populations, Institut Pasteur, 2002–2008
Chief Laboratory Director, Immunogénétique Humaine, Institut Pasteur, 2000–2002
FOREWORD
When Usha Dave asked me to write a foreword for her magnum opus on genetic counseling, consisting of 36 chapters, I readily agreed as it would give me an opportunity to reflect on our three decades of friendship forged by interest in genetics. She has been a pioneer in introducing an advanced test for the diagnosis of 22 preventable Inborn Errors of Metabolism in India in 1998, based on the Matsumoto method of carrying out gas chromatography-mass spectrometry (GC-MS) study on urine after urease treatment. The disorders diagnosed were those of amino acids, organic acids, sugars and nucleic acids. She helped to make an accurate diagnosis of inborn errors of metabolism (IEMs) in hundreds of Indian children, depicting the landscape of IEMs in India, and provided them genetic counseling and appropriate management. Her charming personality and affable nature made her friends with geneticists around the country. She rapidly developed expertise in all aspects of practical genetic counseling.
The end result of her efforts has been the bringing of this book on genetic counseling covering its various aspects from basic genetics, pedigree drawing, psychological issues, to various disorders for which counseling is sought in India. The book would be valuable in providing the Indian perspective on genetic counseling, in view of our social structure and cultural upbringing, which differs greatly from the West. The Indian clients favor a more directive approach to genetic counseling, and seek prenatal diagnosis for disorders such as deafness due to the burden caused by these handicapping conditions and the relative lack of facilities provided by the government.
I feel confident that the book will do well, and will become a textbook in this field due to its wide coverage and a vision of the advice that is suitable and works best in India. The major reason for its success lies in choosing the right expert for the right topic. The mosaic that she has weaved is very attractive, and I look forward to the printed copy with great anticipation. I wish the book the success that it deserves, and the author the luck that is her due in conceiving and bringing out this magnum opus on genetic counseling.
Ishwar C Verma MD (Ped) FRCP (Lond) FAMS (India) FAAP (USA) FIAP
Former President, Indian Society of Human Genetics
The Indian Society of Inborn Errors of Metabolism, and
Society of Fetal Medicine
Former Head, WHO Collaborating Centre in Genetics, AIIMS, New Delhi
Honorary Adviser, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
New Delhi, India
PREFACE
It has been long overdue, but 2021 ensured a great deal of time to devote towards this book. With great pleasure, we introduce this first edition of Genetic Counseling: Clinical and Laboratory Approach.
Looking back to 35 years ago when I started as the Head, Centre for Research in Mental Retardation (CREMERE), Mumbai, Maharashtra, India, establishing a non-governmental organization (NGO) to deliver cytogenetic and biochemical services to children with mental retardation and congenital disabilities, it was almost impossible to imagine how advances in genomic diagnostics and research would completely revolutionize genetics and counseling to what it is today. Back then, Genetic Counseling by Harper was our only reference book. Our passion, efforts, and sincere intentions of helping patients and their families with the then available meagre resources have now blossomed into sophisticated branches of preconceptional and prenatal genetic counseling. Radical new theories and practices of the 21st century have undoubtedly poised a paradigm shift in genomics and metabolomics diagnostics, primarily emphasizing early detection and prevention. It is now delightful to watch clinicians’ advice chromosomal and mutational tests like the comparative genomic hybridization array (aCGH) and whole exome sequencing (WES)/whole genome sequencing (WGS) that were once familiar only to the laboratory scientists. This significant shift has created a great demand for ‘genetic counselors’, especially for pretest and post-test counseling. However, the lack of updated knowledge in clinical and laboratory genetic science is acutely felt during counseling. Hence, this is a humble effort to combine and put forth the experiences and expertise of the stalwarts of Indian genetics.
The book encompasses several aspects of human genetics, including intellectual disability, autism, learning disability, pregnancy losses, infertility, congenital birth defects, neuromuscular conditions, inherited cancers and more, which is spanned over 36 chapters. We express our gratitude to all those who have eagerly contributed their chapters in this book. It will walk readers through the journey of evolution of genetics and counseling while keeping up with the recent times. Several dilemmas in making a diagnosis have been addressed through elaborate case reports. Today, when people are more aware and want to take responsibility for their health, the book attempts to translate complex clinical investigations and superspecialty tests into simple, understandable text and positively impact the doctor-patient dynamic.
We believe this book would prove to be both useful and simple and thus would appeal to a diverse audience—medical doctors, postgraduate (PG) students, scientists, trainees and all those interested in making a career in genetics and genetic counseling.
Usha Dave
Dhanlaxmi Shetty
ACKNOWLEDGMENTS
I am truly fortunate to have Late Professor Darab K Dastur, a world renowned neuropathologist—as my mentor. I will always remain grateful for his valuable guidance and setting a strong foundation for me in neurosciences. He fostered and built my passion towards neural cell pathology in various neurogenetic conditions, despite meagre resources in 1980s and to pursue advanced laboratory technology during postgraduate (PG) studies.
I express my sincere gratitude to Late Dr AV Mehta, Director-CREMERE (Centre for Research in Mental Retardation) for his constant encouragement since inception to expand CREMERE over 23 years of the period and support research in intellectual disabilities, learning disabilities and genetic conditions.
It is a proud privilege to especially thank Dr Dhanlaxmi Shetty—my Co-Editor, who has not only assisted me, but staunchly stood by me as an experienced geneticist throughout this journey of a mammoth task.
Last but not least, this book would not have been the reality it is today without the support, encouragement and motivation of our friends and families throughout our careers.
I am thankful to Shri Jitendar P Vij (Group Chairman), Mr Ankit Vij (Managing Director), Mr MS Mani (Group President), Ms Chetna Malhotra Vohra (Associate Director–Content Strategy), and Ms Pooja Bhandari (Production Head), M/s Jaypee Brothers Medical Publishers (P) Ltd, New Delhi, India, for their untiring efforts in bringing out this book.
Usha Dave
Contributors
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