Facilitating the Genetic Counseling Process Practice-Based Skills, Second Edition

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written as an introduction for physicians to the new subject of counseling in medical
genetics. It was my hope that it would have a wide distribution, and it did. Thousands
of physicians enjoyed the comic bits in it, hopefully some learned a little genetics,
and all were introduced to genetic counseling” (Preface).
In 1975, the American Society of Human Genetics (ASHG) published a defini-
tion of genetic counseling (ASHG 1975 ). The most important aspects of the defini-
tion include the acknowledgment that genetic counseling is a communication
process and patient autonomy is the guiding principle of that process. In the third
edition of his book, Reed acknowledges the formal definition of genetic counseling
from the ASHG but defines it for himself as “a kind of social work which is often
medical but not always so” (Reed 1980 , p. 9). These definitions form the framework
for contemporary genetic counseling practice. The underlying principles and values
are important in that they distance the field from eugenics and, at the same time,
strive to empower the patient. Patient autonomy is valued over any other factor.
Over time, although the definition of genetic counseling has evolved, patient
autonomy and patient empowerment remain central. In 2006, the National Society
of Genetic Counselors assembled a task force to update the definition and adopted
the following, which remains the definition today:


“Genetic counseling is the process of helping people understand and adapt to the medical,
psychological and familial implications of genetic contributions to disease. This process
integrates the following:


  • Interpretation of family and medical histories to assess the chance of disease occurrence
    or recurrence

  • Education about inheritance, testing, management, prevention, resources and research

  • Counseling to promote informed choices and adaptation to the risk or condition” (Resta
    et al. 2006 , p. 77).
    In 1980 Dr. Seymour Kessler described the major change in emphasis in genetic
    counseling as a paradigm shift. He was talking about a shift that originally empha-
    sized a eugenics framework, to a preventive medicine framework, and then to a
    psychosocial medicine approach that emphasized patient self-determination and the
    genetic counselor’s role as a patient advocate, grief counselor, researcher, and
    health-care professional providing supportive care, education, resources, and refer-
    rals (Kessler 1980 ). This shift positioned the practice of genetic counseling to be a
    unique, multifaceted health-care service.
    As heredity clinics sprang up at major medical centers in the USA, genetics was
    well on its way to becoming an established medical service. In the third edition of his
    book, Reed ( 1980 ) also talks about a potential demand for genetic counseling that
    will exceed the supply of genetic counselors. He was referring mostly to physicians
    and Ph.D. geneticists at that time. The practice of genetic counseling as it exists
    today was just beginning to develop, but his prediction proved to be right on target.
    In 1969, at Sarah Lawrence College in New  York, the first graduate program
    designed to educate health-care professionals specifically to provide the service of
    genetic counseling enrolled its first class of students. The curriculum evolved over
    the first few years to incorporate the study of the psychosocial dimensions of genetic
    counseling with the medical aspects of genetic disease (Marks 1993 ). The profession


2.1 History of Genetic Counseling

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