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Genetic
Counseling
Introduction
Genetic counseling is often thought to consist solely of telling
parents the recurrence risk of having another child affected with
a genetic disorder, but this is only a small part. Genetic counseling
provides information to a patient affected with a genetic disorder
or to family members at risk of a genetic disorder. Genetic counseling
involves assessment of the accuracy of the diagnosis, discussion
of the medical consequences of the disorder, the probability of
developing or transmitting it, and the ways in which it can be prevented
or ameliorated. Genetic counseling also provides support to families,
offering them patient-oriented literature, and helping them find
ways to cope with the genetic problem. Making patients and their
families aware of available community resources is an important
additional component of genetic counseling.
Genetic counselors have
a master's degree in genetic counseling or a nursing degree with
additional genetic training. They have a solid understanding of
genetic fundamentals and inheritance patterns, and they are familiar
with recurrence risk calculation procedures. They are knowledgeable
regarding the clinical aspects of genetic disorders, prenatal diagnosis,
teratogen evaluation, and genetic screening. A counselor is familiar
with the numerous community resources for special medical, educational,
or emotional problems and will utilize the academic resources of
genetic libraries and computerized genetic databases. Genetic counseling
depends on an accurate specific diagnosis.
The genetic counselors
working with GLG function in conjunction with one of the physician
geneticists. It is the responsibility of the physician geneticist
to verify that the diagnosis for the patient is correct and that
the genetic counselor covers all appropriate topics. GLG's long-term
counselor and genetic nurse specialist, Lois Magnuson, received
wide recognition in particular for a program to support families
with prenatally diagnosed severe malformations and for following
newborns with Down syndrome. The genetic associates at St. Vincent
Hospital in Green Bay, Theresa Shuck and Sumedha Ghate, and Sharon
List at Theda Clark Medical Center in Neenah continue that tradition
and are also active in genetic counseling for single gene disorders,
cancer susceptibility, and teratogen exposure. A particular specialty
is the genetic aspects of breast cancer.
Procedure
The genetic counselor meets with the patient and/or family to gather
pertinent data regarding the patient's genetic problem and the pedigree.
She then applies genetic counseling fundamentals to the specific
diagnosis and family situation to render an explanation of the disorder
and its recurrence risks. She outlines appropriate genetic follow-up
and provides support.
Indications
Genetic counseling is appropriate for many types of patients. Typical
examples include:
• individuals with a family history of hereditary disorders that
present later in life, such as certain types of cancer (e.g. breast
cancer), mental illness (e.g. manic depression), and neurodegenerative
disorders (e.g. Huntington's disease)
• couples who have a child with a birth defect or genetic disorder
• couples with a relative with a birth defect or a genetic disorder
• parents of a stillborn infant
• couples with recurrent miscarriages or infertility
• a pregnant woman with a possible teratogenic exposure
• a pregnant woman of advanced maternal age
CPT Codes
99242 - counseling, level 2
99244 - counseling, level 3
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