Genomics in the Clinic. A Practical Guide to Genetic Testing, Evaluation, and Counseling

1. Introduction

2. Basic Principles of Genetics and Genomics

3. Genetic Counseling and Referrals

4. Prenatal Genetics and Referrals

5. Clinical Genetics and Referrals

6. Genetic and Genomic Testing

7. Genetic and Genomic Results and Management

8. Cancer Genetics Referrals and Management

9. Direct-to-Consumer Testing

10. Ethical and Psychosocial Implications (ELSI)

11. Case Scenarios

Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine.

 

 

AUTHORS

 

Dr. Kline received her medical degree from Jefferson Medical College, Philadelphia, Pa., her postdoctoral training in medical genetics at Jefferson Medical College, Philadelphia, PA, her clinical cytogenetics training at the Kennedy Krieger Institute of the Johns Hopkins University School of Medicine, Baltimore, Md. She is board-certified in clinical genetics, clinical cytogenetics and clinical molecular genetics. She is also a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics. Dr. Kline is the medical director of the Cornelia de Lange Syndrome Foundation and a member of the professional advisory board of the 5p- Society. Her areas of expertise include evaluation of multiple birth defects and/or developmental issues, as well as correlation and interpretation of cytogenetic changes in a clinical setting.

 

Dr. Ethylin Wang Jabs is a clinical geneticist and serves as an attending in medical genetics in the General Genetics Clinic and the Cleft and Craniofacial Clinic at the Mount Sinai Medical Center, New York, NY. Dr. Jabs is also Vice Chair and Professor of the Department of Genetics and Genomic Sciences, Professor of Pediatrics, and Professor of Developmental and Regenerative Biology at Mount Sinai. She was the Chief of the Division of Medical Genetics and Genomics from 2007-2012 and served as Director of the Medical Genetics Residency and Clinical Laboratory Fellowship Training Programs from 2007-2011. Prior to November 1, 2007, her appointment was at Johns Hopkins University School of Medicine. She was the Dr. Frank V. Sutland Professor of Pediatric Genetics, Director of the Center for Craniofacial Development and Disorders, and Director of the International Collaborative Genetics Research Training Program.