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Genetic Counseling: Clinical Practice and Ethical Considerations

Subject Area(s):  Human Biology and DiseaseGenetics

Edited by Laura Hercher, Sarah Lawrence College; Barbara Biesecker, Research Triangle Institute (RTI) International; Jehannine C. Austin, University of British Columbia

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Genetic Counseling and the Central Tenets of Practice

© 2020 • 304 pages, illustrated (11 color and 1 B&W), index
Paperback • $79 55.30
ISBN  978-1-621823-96-4
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  •     Description    
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Genetic counselors advise patients and families affected by or at risk of genetic disorders. They educate them about inheritance, diseases, and screening tests, interpret medical histories and test results, and help families cope with diagnoses and make informed medical decisions. The profession is rapidly evolving and is poised to play an increasingly important role in society as genome sequencing becomes routine clinical practice.

This collection from Cold Spring Harbor Perspectives in Medicine captures the current state of genetic counseling and examines the changing roles of genetic counselors in the genomic age. The contributors discuss the range of genetics-related needs people bring to counselors, existing and emerging technologies for genetic testing, challenges related to the abundance of recent discoveries about genetic diseases, the ways in which genetic counseling is integrated into modern medicine, and the expanding roles of genetic counselors beyond the clinical setting. The current and evolving practices in different counseling subspecialties, including infertility, prenatal care, pediatrics, cardiology, neurology, psychiatry, and cancer, are also covered.

Other topics in the volume include ethical, legal, and social issues (e.g., genetic testing of minors, genetic discrimination, and obtaining informed consent for genomic testing), as well as the future of the profession. The volume is therefore an essential read for practicing genetic counselors, as well as all biomedical scientists and health professionals dedicated to using genetic and genomic information to improve the lives of individuals and their families.


Genetic Counseling and the Central Tenets of Practice
Barbara Biesecker
Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing
Katie Stoll and Judith Jackson
Impact of Emerging Technologies in Prenatal Genetic Counseling
Blair Stevens
Predictive Genetic Counseling and Testing for Neurodegenerative Diseases: Past, Present, and Future
Jill S. Goldman
Genetic Counseling in Neurodevelopmental Disorders
Alyssa Blesson and Julie S. Cohen 
Cancer Genetic Counseling—Current Practice and Future Challenges
Jaclyn Schienda and Jill Stopfer
Tumor-Based Genetic Testing and Familial Cancer Risk
Andrea Forman and Jilliane Sotelo
Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map
Jehannine C. Austin
Genetic Risk Assessment in Psychiatry
Holly Landrum Peay
Psychological Issues in Managing Families with Inherited Cardiovascular Diseases
Jodie Ingles
A Person-Centered Approach to Cardiovascular Genetic Testing
Julia Platt
Genetic Counseling for Genome Sequencing in Pediatric Rare Disease
Alison M. Elliott
Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders
Julie A. McGlynn and Elinor Langfelder-Schwind
Genetic Counseling and Assisted Reproductive Technologies
Debra Lilienthal and Michelle Cahr
Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine
Laura Hercher
Legal Challenges in Genetics, Including Duty to Warn, and Genetic Discrimination
Sonia Suter
Birds of a Feather? Genetic Counseling, Genetic Testing, and Humanism
Robert Resta
Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives
Margaret E.C. Ginoza and Rosario Isasi
Evolving Roles of Genetic Counselors in the Clinical Laboratory
Megan T. Cho and Carrie Guy
Informed Consent in the Genomics Era
Shannon Rego, Megan E. Grove, Mildred K. Cho, and Kelly E. Ormond
Genetic Counseling, Personalized Medicine, and Precision Health
Erica Ramos


review:  “...contributed chapters offer extremely interesting discussion on the ethical, legal, and social issues related to genomics, while others describe available genetic testing procedures.... This book focuses specifically on the needs of genetic counselors, including the genomics content that is essential to inform their everyday practice, making the book a strong contribution to the genetic counseling literature.”

review:  “The essays are provocative and informative, each paper raising the concerns to clients and practitioners about what information should be shared with relatives and how much information can be successfully communicated in a relatively short amount of time with clients...The collection is valuable for readers because there are useful tables in many of the articles providing a wealth of detail about the role of genetic counseling, prenatal diagnosis, and assisted reproduction as part of human reproductive practices in the present and for decades to come.”
      —The Quarterly Review of Biology