Genomics in The Clinic - 1st Edition - ISBN: 9780128164785

Genomics in The Clinic

1st Edition

A Practical Guide to Genetic Testing, Evaluation, and Counseling

Editors: Ethylin Jabs Antonie Kline
Paperback ISBN: 9780128164785
Imprint: Academic Press
Published Date: 1st June 2020
Page Count: 200
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Genomics to the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling clearly explains central concepts of clinical genomic medicine and testing for non-geneticist clinicians and healthcare affiliates of various types, including pediatricians, internists, general practitioners, family medicine doctors, obstetricians and gynecologists, oncologists and pharmacists. Readers will learn to make appropriate genetic referrals, prepare patients for genetic consultation and testing results, understand basic genetic testing methods and nomenclature, and become versed in the ethical, legal and psychosocial aspects of genomic medicine. Essential topics include clinical genetic testing, genetic consultation and referrals, ELSI in genomic medicine, genetic diagnosis, and prenatal testing.

Descriptive, applied case studies also examine a range of genetic conditions and testing methods, putting these concepts and approaches into practice. With its focus on accessible instruction, full-color imagery, and real-world application, this book prepares clinicians and healthcare providers of all types for a new age of genomic and precision-based medicine.

Key Features

  • Provides a well-balanced author team, including an experienced clinical geneticist and genetic counselor who cover essential topics in an accessible, easy-to-follow format
  • Includes applied case studies that examine recommended protocols for a range of genetic conditions
  • Makes genetic and genomic concepts, technology, and interpretation of genetic test results approachable and relevant to clinical practice, with clear steps for clinical integration


Non-geneticist physicians, in particular pediatricians, internists, general practitioners, family medicine practitioners, obstetricians and gynecologists, oncologists, and pharmacists, medical students and residents in various specialties; healthcare administrators and affiliates; clinical and translational scientists; genetic counselors; pharmacists and pharmacologists

Table of Contents

Chapter 1. Introduction
1.1. Purpose of book
1.2. Target audience
Chapter 2. Genetics evaluation/consultation
2.1. Benefits of diagnosis
2.1.1. Management and Services available with diagnosis
2.1.2. Reproductive implications
2.1.3. Psychosocial issues
2.1.4. Limitations of genetics Symptomology important in genetic test choice and interpretation Limited phenotype-genotype correlations DNA variation and results of unknown clinical significance Cases with better clinical test (i.e., nasal biopsy for Primary Ciliary Dyskinesia, sweat chloride test for Cystic Fibrosis)
2.2. Evaluation and/or counseling
2.2.1. Reproductive genetics
2.2.2. Clinical genetics
2.2.3. Cancer genetics
2.3. Referral to genetics
2.3.1. Prenatal referrals with medical history, family history, or high risk pregnancy
2.3.2. Clinical referrals Known syndrome in family/Symptom inherited in family Congenital anomalies Cardiovascular disease Developmental and intellectual disabilities Growth concerns Cancer Specific concern (i.e., psychiatric concerns) Risks to family members
2.3.3 American College of Medical Genetics guidelines
2.4. Preparing patient and timing of genetic consultation
2.4.1. Evaluation and counseling
2.4.2. Medical records are needed, can ask family history prior to referral
2.4.3. Testing
Chapter 3. Clinical Genetic Testing
3.1. Types of mutations
3.1.1. Copy Number Variation (CNV), Single Nucleotide Variation (SNV), Rearrangements
3.2. Cytogenetics and cytogenomics (karyotype vs array)
3.3. Sequencing for single gene or panel of genes (Sanger/ one gene at a time) vs next generation sequencing (NGS) and exon arrays/ Multiple Ligation-dependent Probe amplification (MLPA)
3.4. Whole exome sequencing (WES)/ Whole genome sequencing (WGS)
3.5. Other
3.5.1. Triplet repeat expansions
3.5.2. Mitochondrial disease
3.5.3. Epigenetic
3.5.4. Tumor testing
3.5.5. Pharmacogenomics
3.6. Source of sample (blood, saliva, tissue)
3.7. Direct to consumer testing
Chapter 4. Ethical, Legal, and Social Implications (ELSI)
4.1.1. Consent
4.1.2. Genetic Information Nondiscrimination Act (GINA)
4.1.3. Incidental findings (identity, paternity, consanguinity, other diagnoses)
4.1.4. Importance of appropriate genetic counseling
4.1.5. Issues regarding cost and insurance coverage
Chapter 5. Cases
5.1.1. Prenatal Diagnosis. Examples of advanced maternal age and fetal anomalies Cell-free fetal DNA and Non-Invasive Prenatal Screening (NIPS) Chorionic villous sampling and amniocentesis – chromosomes, microarray and panel
5.1.2. Dysmorphology/ Syndrome Medical history and evaluation Family history Screening – chromosomes and microarray testing Panel testing or suspicion based on a specific finding vs whole exome sequencing
5.1.3. Hearing Loss. Example of phenotypic variation and genetic heterogeneity Medical history and evaluation Family history Targeted gene testing Panel testing or suspicion based on a specific finding vs whole exome sequencing
5.1.4. Developmental delay. Examples of a treatable metabolic disease and autism Medical history and evaluation Regression Family history (X-linked pattern) Screening - chromosomes, microarray, Fragile X testing Panel testing or suspicion based on a specific finding vs whole exome sequencing
5.1.5. Adult onset neurological condition (early onset Alzheimer disease and dystonias). Examples of 100% penetrance and reduced penetrance Medical history and evaluation Family history Targeted gene testing Panel testing or suspicion based on a specific finding vs whole exome sequencing Non-directive counseling Preparedness of patient for information
5.1.6. Breast Cancer Risks based on models BRCA gene testing Panel testing - adjust risk assessment accordingly Changes in management for individual Changes in management for family
Chapter 6. Conclusions
6.1 Importance of prior medical workup and referral because of complexity of test choices and interpretation
6.2. Importance of genetic testing in clinical management
6.3 Benefits versus risks
6.4. Psychosocial issues


No. of pages:
© Academic Press 2020
1st June 2020
Academic Press
Paperback ISBN:

About the Editor

Ethylin Jabs

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.

Affiliations and Expertise

Professor and Vice Chair, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA

Antonie Kline

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.

Affiliations and Expertise

Director of Pediatric Genetics, Harvey Institute for Medical Genetics, Greater Baltimore Medical Center, Towson, MD, USA

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