The Principles of Clinical Cytogenetics - Extra Materials - Springer

542 Sarah Hutchings Clark
conditions but were also interested in eugenics. This interest facilitated tragic consequences, including
the killing of thousands of people with genetic conditions, along with individuals of Jewish
descent, in the Holocaust. Additionally, individuals with hereditary conditions or mental retardation
were encouraged or forced not to reproduce. The field of genetics later rejected eugenics and moved
away from this unfortunate past (3).
Formally speaking, genetic counseling is a relatively new field. The first class with a master’s
degree in genetic counseling graduated from Sarah Lawrence College in 1971. In 1975, a formal
definition of genetic counseling was proposed and adopted by the American Society of Human
Genetics. In 1979, genetic counselors formed a professional society, the National Society of Genetic
Counselors, which has played a critical role in establishing and furthering the profession (4).
Genetic counseling is based on the principles of nondirectiveness and a client-centered approach.
The principle of nondirectiveness states that genetic counselors are to provide information in a way
that does not encourage, or discourage, a certain course of action. In other words, genetic counselors
do not tell their clients what decisions to make. That is not to say that genetic counseling should be
devoid of guidance, particularly in complex situations, but that the counselor should provide guidance
within the framework of the patient’s beliefs and values. The counselor assists and supports the
individual and family as they process the information provided during the counseling session and as
they attempt to reach a decision regarding the course of action that is the most appropriate for them.
To effectively and responsibly accomplish this, the counselor must have some understanding of the
patient’s “social, cultural, educational, economic, emotional, and experiential circumstances” (3).
This is by no means a simple task, particularly in light of the complex and powerful emotions that
genetic conditions often evoke. By maintaining a client-centered approach, genetic counselors seek
to empower their patients and to support and encourage them in their ability to make the best decisions
for themselves in their own unique circumstances (3).
COMPONENTS OF A GENETIC COUNSELING SESSION
AND THE ROLE OF THE GENETIC COUNSELOR
The components of a genetic counseling session can vary widely depending on the reason for the
referral and the specific needs of the patient and/or family. However, several components are frequently
part of the counseling session, particularly if it is the first time that the counselor and patient
are meeting.
The first step is to elicit the patient’s understanding of why he or she has been referred and to
clarify the reason for referral, if necessary. The counselor also seeks to establish a mutually acceptable
set of goals for the session and to understand the concerns of the patient and/or family. This is
referred to as contracting.
During the majority of sessions, the genetic counselor obtains a detailed family, medical, and
pregnancy history in the form of a pedigree (see Fig. 1). In medical genetics, a pedigree is the
accepted, standardized method of documenting the family history in the form of a diagram, which
indicates the family members, their relationships to one another, their status with regard to the genetic
condition or trait in question, and any other relevant medical issues. In addition to providing valuable
information about the medical aspects of the family history, in obtaining the information for the
pedigree, the genetic counselor gains useful information about the dynamics of the family in general
and in relation to the condition in question (5). In addition, the pedigree often allows the counselor to
begin to establish a relationship with the patient. Pedigrees, in varying forms, have been a part of
genetics since the early days of the field. Interestingly, the history of the pedigree provides valuable
insights into the evolution of the field of genetics (6).
As is likely apparent at this point, one major goal of a genetic counseling session is to provide
information. Genetic counselors seek to convey relevant information in a manner that is clear and
understandable to each individual patient or family member. Information is provided about the clini-