The Principles of Clinical Cytogenetics - Extra Materials - Springer

Genetic Counseling 541
INTRODUCTION
From: The Principles of Clinical Cytogenetics, Second Edition
Edited by: S. L. Gersen and M. B. Keagle © Humana Press Inc., Totowa, NJ
541
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Genetic Counseling
Sarah Hutchings Clark, MS, CGC
Genetic counseling, in the traditional sense, has been defined as a communication process, whereby
individuals and families are educated about the genetic conditions in their families and about those
for which they could be at risk. Genetic counseling, as its name implies, also involves addressing the
psychosocial issues that accompany the diagnosis, or possible diagnosis, of such a condition. The
counselor supports the family in learning about the diagnosis and in decision-making about issues
surrounding the diagnosis or potential diagnosis. However, genetic counseling is still a rapidly evolving
field, with many counselors becoming increasingly involved in “nontraditional” roles. The following
is the definition of genetic counseling adopted in 1983 by the National Society of Genetic
Counselors (NSGC), the professional membership organization for genetic counseling:
Genetic counselors are health professionals with specialized graduate degrees and experience in the
areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including
biology, genetics, nursing, psychology, public health and social work.
Genetic counselors work as members of a health care team, providing information and support to
families who have members with birth defects or genetic disorders and to families who might be at
risk for a variety of inherited conditions. They identify families at risk, investigate the problem
present in the family, interpret information about the disorder, analyze inheritance patterns and risks
of recurrence and review available options with the family.
Genetic counselors also provide supportive counseling to families, serve as patient advocates and
refer individuals and families to community or state support services. They serve as educators and
resource people for other health care professionals and for the general public. Some counselors also
work in administrative capacities. Many engage in research activities related to the field of medical
genetics and genetic counseling (1).
Genetic counselors work in a variety of settings. There are genetic counselors who work primarily
in the areas of prenatal, pediatric, adult, and cancer genetics, as well as public health, administration,
research, and molecular and cytogenetic testing. Genetic counselors can be found in a variety of
public and private medical settings, in state and federal offices, in research and diagnostic laboratories,
and in health insurance companies. Some genetic counselors are certified by the American Board
of Genetic Counseling (ABGC), the organization that is also responsible for the accreditation of
genetic counseling graduate programs.
The term “genetic counseling” was first coined by Sheldon Reed in 1947. He was also vital in
establishing the respect for counselees that is a cornerstone of the field of genetic counseling. Dr.
Reed had a deep concern for the feelings of his patients and he cared about how genetic conditions
influenced their lives (2). However, the roots of the field can be traced back to the early 1900s. At that
time, people were not only concerned about elucidating the genetic mechanisms behind hereditary