Foundations of Perinatal Genetic Counseling

Oxford University Press
Free sample

An essential new text for genetic counseling's most sought-after skills Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: · the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management · preimplantation and prenatal genetic screening and diagnosis · the structure and goals of a genetic counseling appointment · common clinical scenarios and best-practice approaches Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.
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About the author

Amber Mathiesen, MS, LCGC, is a licensed and board-certified genetic counselor in prenatal genetics at University of Utah Health, co-director of the perinatal genetics course at the University of Utah's Graduate Program in Genetic Counseling, and a prenatal rotation supervisor. She also acts as a research committee member and mentor for various genetic counseling students. Kali Roy, MS, LCGC, is a perinatal genetic counselor at University of Utah Health and co-director of the perinatal genetics course at the University of Utah's Graduate Program in Genetic Counseling. She graduated from the University of Utah Graduate Program in Genetic Counseling and completed a Master's of Science in Human Genetics and Genomics at the University of Connecticut.
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Additional Information

Publisher
Oxford University Press
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Published on
Apr 30, 2018
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Pages
224
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ISBN
9780190681104
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Language
English
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Genres
Medical / Genetics
Medical / Physician & Patient
Medical / Reproductive Medicine & Technology
Science / Life Sciences / Molecular Biology
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Content Protection
This content is DRM protected.
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Available on Android devices
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Eligible for Family Library

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The first advanced-level genetics counseling skills resource

As genetic medicine and testing continue to expand, so the role of the genetic counselor is transforming and evolving. Genetic Counseling Practice: Advanced Concepts and Skills is the first text to address ways that genetic counselors can deepen their skills to meet expanding practice demands. This timely resource not only helps readers further develop their abilities to gather relevant data and interpret it for patients, it also aids them in surpassing their usual role by truly understanding patient situations, incorporating patient values into clinical practice, providing in-depth support, and facilitating thoroughly informed, autonomous decisions.

Edited by an expert cross-disciplinary team consisting of a genetic counseling program director, a licensed psychologist, and a nurse/bioethicist/family social scientist, this authoritative reference provides specific and detailed instruction in addressing psychosocial aspects of genetic counseling practice and professional development and training issues of genetic counselors.

Provides a process view of genetic counselor service provision; i.e., skills that promote desired genetic counseling outcomes are emphasized (such as relationship skills, patient characteristics, client behaviors, and extra-clinical skills)

Includes experiential activities in every chapter to help readers apply concepts and skills

Draws on the experience of widely recognized experts in genetic counseling theory, practice, and research, who serve as chapter authors

Features numerous specific, real-life examples from clinical practice

Genetic Counseling Practice addresses issues relevant to practicing genetic counselors as well as students of genetic counseling programs. In addition, oncology nurses, social workers, and psychologists working with genetic counseling patients and families; medical geneticists and physicians training in the field; and physician assistants will also benefit from this resource.

Gene tests (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including: Carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed; Preimplantation genetic diagnosis prenatal diagnostic testing new-born screening; Presymptomatic testing for predicting adult-onset disorders such as Huntington's disease; Presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease; Confirmational diagnosis of a symptomatic individual forensic/identity testing. In gene tests, scientists scan a patient's DNA sample for mutated sequences. A DNA sample can be obtained from any tissue, including blood. For some types of gene tests, researchers design short pieces of DNA called probes, whose sequences are complementary to the mutated sequences. These probes will seek their complement among the three billion base pairs of an individual's genome. If the mutated sequence is present in the patient's genome, the probe will bind to it and flag the mutation. Another type of DNA testing involves comparing the sequence of DNA bases in a patient's gene to a normal version of the gene. This book gathers important research in this field.
The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition

First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices.

Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of:

The history and practice of genetic counseling

Family history

Interviewing

Case preparation and management

Psychosocial counseling

Patient education

Risk communication and decision-making

Medical genetics evaluation

Understanding genetic testing

Medical documentation

Multicultural counseling

Ethical and legal issues

Student supervision

Genetic counseling research

Professional development

Genetics education and outreach

Evolving roles and expanding opportunities

Case examples

A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

HELPS YOU DEVELOP AND ASSESS PEDIGREES TO MAKE DIAGNOSES, EVALUATE RISK, AND COUNSEL PATIENTS

The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients.

Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including:

Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-family history for specific disease conditions Use of pedigrees to identify individuals with an increased susceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors are involved Ethical issues that may arise in recording a pedigree

Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved.

This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.

A scorchingly frank look at how doctors are made, bringing readers into the critical care unit to see one burgeoning physician's journey from ineptitude to competence.

In medical school, Matt McCarthy dreamed of being a different kind of doctor—the sort of mythical, unflappable physician who could reach unreachable patients. But when a new admission to the critical care unit almost died his first night on call, he found himself scrambling. Visions of mastery quickly gave way to hopes of simply surviving hospital life, where confidence was hard to come by and no amount of med school training could dispel the terror of facing actual patients.

This funny, candid memoir of McCarthy’s intern year at a New York hospital provides a scorchingly frank look at how doctors are made, taking readers into patients’ rooms and doctors’ conferences to witness a physician's journey from ineptitude to competence. McCarthy's one stroke of luck paired him with a brilliant second-year adviser he called “Baio” (owing to his resemblance to the Charles in Charge star), who proved to be a remarkable teacher with a wicked sense of humor. McCarthy would learn even more from the people he cared for, including a man named Benny, who was living in the hospital for months at a time awaiting a heart transplant. But no teacher could help McCarthy when an accident put his own health at risk, and showed him all too painfully the thin line between doctor and patient.

The Real Doctor Will See You Shortly offers a window on to hospital life that dispenses with sanctimony and self-seriousness while emphasizing the black-comic paradox of becoming a doctor: How do you learn to save lives in a job where there is no practice?
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