28.14 Genetic Counseling
901
Other Issues
Evidence suggests that therapy can induce physical changes in
the nervous system. Eric Kandel has provided elegant proof,
winning the Nobel Prize for demonstrating that environmen-
tal stimuli produce lasting changes in the synaptic architecture
of living organisms. Imaging studies have begun to show that
patients who show clinical improvement from psychotherapy
show changes in brain metabolism that are similar to that seen
in patients successfully treated with medications.
Still, some patients do well on only one form of treatment.
Even with identical diagnoses, not all patients respond to the
same treatment regimens. Success may be as dependent on the
knowledge and quality of the clinician as on the potential ben-
efit of a particular drug.
A real dilemma when combining treatment is the additional
direct costs of two treatments. Although successful treatment
results in reduced costs to society, the cost of treatment is usu-
ally narrowly defined by the patient as out-of-pocket expenses
and by insurance and managed care companies as payments to
the physician or hospital. Restrictions placed on the frequency
and cost of visits to mental health professionals by managed
care organizations, however, encourage the use of medication
rather than psychotherapy.
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friend DR, Hosking JD, Johnson BA, LoCastro JS, Longabaugh R, Mason
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28.14 Genetic Counseling
Medical geneticists and specially trained and qualified genetic
counselors have traditionally provided genetic counseling to
patients in need of such help. Many psychiatrists, however, are
also well placed to provide genetic education and counseling
because they often have knowledge of their clients’ needs and
family histories and have ongoing therapeutic relationships. The
ideal approach for providing psychiatric genetic counseling is
through a multidisciplinary team approach, with collaboration
between genetics and mental health professionals. Genetic pro-
fessionals often seek collaboration with a psychiatrist for those
with difficult psychiatric medical or family histories. Genetic
professionals also seek collaboration or referral for persons with
a psychiatric disorder; those who are having difficulty adapt-
ing to a genetic-related diagnosis; those dealing with the death
of a family member; or those who are experiencing persistent
difficulty with decision making regarding prenatal diagnosis or
genetic testing. In turn, genetic professionals can be available for
professional consultation regarding risk assessment, the collec-
tion and construction of complicated family medical histories,
and the availability and limitations of genetic or genomic testing.
Definitions
Genetic counseling is the process of helping people to under-
stand and adapt to the medical, psychological, and familial
implications of genetic contributions to disease. According
to the National Society of Genetic Counseling, it integrates
three factors: (1) interpretation of family and medical his-
tories to assess the chance of disease occurrence or recur-
rence; (2) education about inheritance, testing, management,
prevention, resources, and research; and (3) counseling to
promote informed choices and adaptation to the risk or con-
dition. The process aims to minimize distress and facilitate
adaptation, to increase one’s feeling of personal control, and
to facilitate informed decision making and life planning.
Genetic counseling is not limited to considerations of the
genetic contributions of disease. Genetic counseling also con-
siders
environmental
components of the presenting disease
along with
genetic
ones. Table 28.14-1 lists common terminol-
ogy used in the field of genetic counseling. Figure 28.14-1 illus-
trates a complex family medical history presented in the form
of a pedigree.
Genetics and Mental Health
Disorders can recur in families for many reasons, including the
functioning of genes (single genes vs. polygenic) (Table 28.14-2),
shared environmental exposures, a combination of genetic and
environmental factors (multifactorial), and cultural transmis-
sion.
Single gene disorders
are caused by defects in one particu-
lar gene, and they often have simple and predictable inheritance
patterns. By contrast, most psychiatric disorders are
multifacto-
rial
in etiology, influenced by multiple genes as well as environ-
mental factors, making them more difficult to predict.
Two phenomena that further complicate genetic counseling include
penetrance and expressivity.
Penetrance
refers to the portion of indi-
viduals with a specific genotype who also manifest that genotype at the
