Technological advances in molecular genetics are revolutionizing
the way medicine is practiced. The recent discovery of genes responsible
for the inherited predisposition to hereditary breast, ovarian,
and colon cancers will enable some high-risk individuals to receive
more accurate information about their risk status. Because the
ethical, legal, and psychosocial implications of testing and counseling
for inherited cancer risk are substantial, adequate genetic counseling
must accompany any genetic testing program [1-4].
Clinical investigations, supported by the Ethical, Legal, and
Social Issues (ELSI) branch of the Human Genome Project, are underway,
with the goal of determining how best to conduct the educational
and counseling elements required in genetic testing for inherited
cancer risk . Furthermore, standards are currently emerging
for familial cancer risk counseling that can be conducted regardless
of whether or not genetic testing is feasible or desirable in
a particular situation.
The genetic counselor may provide a valuable service within an
oncology practice that seeks to undertake familial cancer risk
counseling. Presented here is an introduction to the genetic counselor
as a member of such a team.
Familial cancer risk counseling (FCRC) is a communication process
between health-care professionals and an individual concerning
the occurrence, or risk of occurrence, of cancer in his or her
family . Familial cancer risk counseling is comprehensive in
scope and includes a strong emphasis on the familial nature of
cancers and the analysis of genetic and related risk factors.
A wide variety of activities may be included under the umbrella
of FCRC (Table 1). Minimal elements that should be addressed are
documentation of all cancer diagnoses in the family, provision
of general cancer and genetic information, health promotion, supportive
and/or grief counseling, determination of suitability for genetic
testing, and referral for further services as indicated. More
detailed information on each of these elements can be found in
the flowchart in Figure 1 and in the sections highlighting individual
components of FCRC.
What Genetic Counseling Entails
Genetic counselors are increasingly joining, or offering consultation
to, oncology practices that are interested in addressing the special
needs of individuals at increased risk of developing cancer due
to familial factors. Genetic counseling has been defined as "a
communication process which deals with the human problems associated
with the occurrence, or risk of an occurrence of a genetic disorder
in a family. " This process involves helping the individual
or family to:
- comprehend the medical facts;
- appreciate the way heredity contributes to the disorder, and
the risk of recurrence in specified relatives;
- understand the alternatives for dealing with the risk of occurrence;
- choose among alternative courses of action; and
- make the best possible adjustment to the diagnosis of the
disorder in an affected family member and/or to the risk of recurrence
of that disorder.
Most persons who perform genetic counseling have professional
training at the MD, PhD, or MS level, and are certified by professional
organizations, such as the American Board of Medical Genetics
and American Board of Genetic Counseling. Professional societies,
such as the National Society of Genetic Counselors (NSGC) and
International Society of Nurses in Genetics (ISONG), can be contacted
for referrals. (NSGC Executive Office: 233 Canterbury Drive, Wallingford,
PA 19086, telephone: 610-872-7608; ISONG: 3020 Javier Road, Fairfax,
VA 22031, telephone: 703-698-7355).
Genetic Education, Medical Advice, Genetic Counseling, and
Familial cancer risk counseling involves a combination of services,
including genetic education, genetic counseling, and medical advice.
Although the FCRC practice usually involves a seamless blending
of these components, it may be helpful to consider the essence
of these components individually before returning to the process
in which they are combined.
Genetic Education--Persons dealing with genetic diseases,
such as hereditary cancer, must assimilate a great deal of new
information that is complicated and abstract. The genetic counselor
can simply and clearly explain principles of medical genetics,
patterns of inheritance, and an appreciation of probability. General
education can also be offered regarding cancer epidemiology, the
multistep process of cancer, and the spectrum of disease presentation,
diagnosis, and treatment.
The counselor can define and illustrate chromosomes and genes,
show examples of chromosomal karyotypes, and review pedigrees
demonstrating the different modes of inheritance and how Mendelian
recurrence risks are derived from those inheritance modes. Environmental
factors that interact with genetic factors in a non-Mendelian
fashion can be discussed in the context of the multifactorial
mode of inheritance. In teaching family members the language and
concepts of cancer genetics, the counselor can help them formulate
a conceptual framework that will pave the way for future information
and decision-making, as well as empower and encourage them to
become active participants in their health care.
Health Promotion--Genetic counselors are joining physicians,
health educators, and oncology nurses who have been actively providing
health promotion information about cancer prevention and detection.
Examples include promotion of healthy lifestyle with nutritional
and exercise components, smoking cessation programs, and cancer
screening programs, such as prostate, breast, skin, and cervical
screening. As will be discussed later, the family with a hereditary
cancer syndrome may require more information and encouragement
than does the general population.
Medical Advice--Helping the family comprehend the medical
facts about hereditary diseases is one of the important tasks
of the genetic counselor. Although giving medical advice is generally
outside the scope of practice of the genetic counselor, there
are instances in familial cancer risk counseling in which the
genetic counselor may be the person to convey or clarify medical
The counselor working as part of the medical genetics team can
also assist the family in implementing specific medical recommendations.
For example, the counselor may relay and discuss standardized
medical recommendations for surveillance and treatment, explain
them to the family members in lay terms, help the family prioritize
and implement these recommendations, provide input into developing
new guidelines, actively promote healthy behaviors, coordinate
medical appointments, and facilitate referrals.
Counseling is a word that has very broad and multidimensional
uses in the medical setting. Sometimes "counseling"
is the umbrella term used to refer to all communication processes
with the patient. However, in genetic counseling, the term has
specific content and process. Several selected areas in which
the genetic counselor incorporates active counseling include patient
psychosocial assessment, anxiety reduction, grief counseling,
enhancing adaptation to current medical stressors, facilitating
decision-making about genetic testing and other difficult issues,
and supporting follow-through of medical recommendations.
The modern genetic counseling process generally involves a nondirective
approach to discussing, in a nonjudgmental fashion, the use of
genetic information for reproductive decisions. This tradition
emerged after World War II in response to the strongly eugenic
policies and practices of genetics professionals earlier in this
century, which lended support to forced sterilization and stigmatization
of the "genetically unfit." Nondirective genetic counseling
is used in situations in which options are similar in risk and
benefit, or are considered experimental, controversial, or without
adequate empiric evidence of benefit. Genetic susceptibility testing
and prophylactic surgery are controversial issues in FCRC for
which a nondirective approach may be still appropriate.
Recently, the appropriateness of the nondirective approach to
genetic counseling has come under scrutiny [7a]. Generally, the
nondirective approach seeks only to assist the patient in recognizing
how his or her own values fit with a particular decision. In certain
areas of FCRC, the counselor takes a more directive stance than
in reproductive counseling because available screening, prevention,
or early detection options may be clearly superior to other options.
For example, it would be inappropriate to present colonoscopy
screening as optional for a person at high-risk for hereditary
colon cancer. Rather, this would be presented as a medical recommendation
from an appropriate specialist. The counselor may then work with
the individual regarding following through with these recommendations.
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