Handbook of Clinical Adult Genetics and Genomics - 1st Edition - ISBN: 9780128173442

Handbook of Clinical Adult Genetics and Genomics

1st Edition

A Practice-based Approach

Editors: Shweta Dhar Sandesh Sreenath Nagamani Tanya Eble
Paperback ISBN: 9780128173442
Imprint: Academic Press
Published Date: 1st January 2020
Page Count: 504
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In recent years, genetic factors have been shown to influence every organ system throughout the life span of an individual. With recent advances in genetics and genomics, molecular diagnostic modalities are increasingly being incorporated into the clinical care of all patients, including adults.Handbook of Clinical Adult Genetics: A Practice-based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, the promise of gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary, connective tissue, endocrinological, reproductive, hematological, metabolic, mitochondrial, bone, and immunological disorders, as well as cancer. Here, students, physicians, medical trainees in various specialties, genetic counselors, and translational researchers will discover case-based approaches and descriptions of disorders in the context of presenting symptoms and clinical scenarios they are likely to encounter. Finally, Handbook of Clinical Adult Genetics offers a practical framework for developing an adult genetics clinic or incorporating adult genetics into an existing practice, addressing infrastructure, billing, counseling, telegenetics, and various challenges unique to adult clinical genetics.

Key Features

  • Employs clinical case studies to demonstrate how to evaluate, diagnosis, and treat adult patients with genetic disorders
  • Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics
  • Features chapter contributions from authors at leading adult genetics institutions in the US and abroad


Active researchers, basic and translational scientists, clinicians, postgraduates, and students in the areas of genetics, human genomics, pathology and bioinformatics; medical students, pediatricians; internal medicine physicians and residents; genetic counselors, and genetic counseling students; clinical and laboratory genetics trainees (residents and fellows); physicians and trainees of other sub-specialties (pathology, gastroenterology, oncology, endocrinology, neurology, psychiatry, immunology, hematology, rheumatology, nephrology, pulmonology, dermatology)

Table of Contents

1. Introduction to the field of Adult Genetics
Shweta Dhar
2. Basic Genetic Concepts
3. Evaluation of an Adult patient with a suspected genetic disorder
Maren Scheuner
4. Counseling the adult patient with a genetic disorder
Tanya Eble and Deanna Erwin
5. Genetic testing in adults
Robert Nussbaum

6. Adults with developmental disabilities
Peter Hulick
7. Cardiovascular genetic disorders in Adults
Amy Roberts/Matthew Taylor
8. Gastrointestinal disorders with a  genetic basis
Nishitha Pillai and Maria Blazo
9. Neurogenetic disorders in adults
Fuki Hisama
10. Pulmonary disorders with a genetic basis
Kanta Velamuri and Shweta Dhar
11. Hereditary connective tissue disorders
David Murdock and Hal Dietz
12. Endocrine disorders and genetics
Susan Samson
13. Renal disorders with a genetic basis
Rajeev Raghavan and Reza Bekheirnia
14. Genetic disorders that impact reproduction
Lorraine Potocki
15. Cancer Genetics
Shweta Dhar and Tanya Eble
16. Hematological disorders
Sarvari Yellapragada and Allison Bertuch
17. Metabolic disorders
Lindsay Burrage and Tarak Donti
18. Disorders of bone in adults
Sandesh Nagamani and Brendan Lee
19. Psychiatric disorders with a genetic basis
Lauren Murphy and Jennifer Posey
20. Immunogenetics
Wojciech Wiszniewski
21. Dermatogenetics
Virginia Sybert
22. Mitochondrial disorders
Fernando Scaglia
23. Transition of care for children with genetic disorders growing into adulthood
Cynthia Peacock
24. Preconception and prenatal genetics
Igna Van den Veyver and Sandra Darilek

25. Billing and reimbursement in adult genetics
David Flannery
26. Telegenetics and other care models in adult genetics
Ed Esplin, Ruth Abramson
27. ELSI

28. Complex Inheritance and Precision Medicine
Murray Brilliant
29. Pharmacogenomics
Jonathan Berg
30. Gene Therapy/Gene Editing
Nicola Brunetti Pierre


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© Academic Press 2020
Academic Press
Paperback ISBN:

About the Editor

Shweta Dhar

Dr. Shweta Dhar is the Director for the Adult Clinical Genetics Services at Baylor College of Medicine, Houston, TX and the Section Chief of Genetic Medicine at the Michel E. Debakey VA Medical Center. She is boarded in Internal medicine and Clinical Genetics. As the course Director for Genetics for 1st and 2nd year medical students and a Director for the only Genetics Track at a US medical school, she has had a significant role in shaping medical education and reform at BCM. The clinical adult genetics practice at BCM is one of the largest adult genetics services in the nation and spans three different health care systems including an academic private practice, a county health system, and the VA medical center. The service provides care to more than 2,000 general adult and cancer genetics patients each year.

Affiliations and Expertise

Director, Adult Clinical Genetics Services at Baylor College of Medicine, Houston, TX and Section Chief of Genetic Medicine, Michel E. Debakey VA Medical Cente

Sandesh Sreenath Nagamani

Sandesh Nagamani is a clinical geneticist practicing at the Adult Genetics Clinics at Baylor College of Medicine and is also trained in Internal Medicine and Genetics. He is the Director of Clinical Research and Director of the Clinical Translational Core for the NIH IDDRC at Baylor College of Medicine and is well versed in clinical and research applications of adult genetics. He also runs a Bone Disorders clinic for adults at BCM.

Affiliations and Expertise

Clinical Geneticist, Adult Genetics Clinics at Baylor College of Medicine

Tanya Eble

Tanya Eble is a certified genetic counsellor with over 10 years’ experience in adult genetics and is the clinical manager for the service. In addition, she has several years’ experience practicing in prenatal genetics. She is also a member of the Executive Board for the Masters of Science Genetic Counselling program currently under development at Baylor College of Medicine.

Affiliations and Expertise

Executive Board, Masters of Science Genetic Counselling Program, Baylor College of Medicine

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