Genetic Counseling: Clinical Practice and Ethical Considerations

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.

(preliminary)

INTRODUCTION

Central Tenets of Genetic Counseling
Barbara Biesecker
PRENATAL

Supporting Patient Autonomy and Informed Decision Making in Prenatal Genetic Testing
Katie Stoll and Judith Jackson

Use of Emerging Technologies in Prenatal Testing
Blair Stevens

NEUROLOGY

Predictive Genetic Counseling and Testing for Neurological Diseases: Past, Present, and Future
Jill S. Goldman

Genetic Counseling in Neurodevelopmental Disorders
Alyssa Blesson an Julie S. Cohen

CANCER

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

PSYCHIATRY

Psychiatric Genetic Counseling: Emerging Evidence for Processes and Outcomes
Jehannine Austin

Genetic Risk Assessment in Psychiatry
Holly Landrum Peay

CARDIOLOGY

Psychosocial Issues in Managing Families with Inherited Cardiovascular Diseases
Jodie Ingles

A Person-Centered Approach to Cardiovascular Genetic Testing
Julia Platt

PEDIATRICS

Genetic Counseling for Genome-Wide Sequencing of Pediatric Rare Disease
Alison M. Elliott

Bridging the Gap Between Scientific Advancement and Real-World Application: Genetic Counseling for Common Syndromes and Single Gene Disorders
Julie A. McGlynn and Elinor Langfelder-Schwind

INFERTILITY

Genetic Counseling and Assisted Reproductive Technologies
Debra Lilienthal and Michelle Cahr

ETHICAL, LEGAL AND SOCIAL ISSUES

Discouraging 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, duty to re-contact, and genetic discriminations
Sonia Suter

Birds of a Feather? Genetic Counseling, Genetic Testing, and Humanism
Robert Resta

Regulating Preimplantation Genetic Diagnosis Across the World: A Comparison of International Policy and Ethical Perspectives
Margaret E.C. Ginoza and Rosario Isasi

GENOMICS

Evolving Roles of Genetic Counselor 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

THE FUTURE OF THE PROFESSION

Personalized Medicine
Erica Ramos