Cover

25 / 124

Disadvantages of Testing
• Feelings of worry, stress, or panic.
• Anxiety of sharing the information with the family (some of
whom may also be at increased risk for breast cancer.)
• Women who test negative may falsely believe they will
never get breast cancer.
• Complications with health insurance.
Advantages of Testing
• Relief
• Personalized medical recommendations
• Risk reduction options – mastectomy (breast removal
surgery), or oophorectomy (removal of ovaries)
• The results guide in developing management/screening
program
• Informative for other family members – can chose to have
predictive testing
What Type of Results to Expect?
Positive Result: A cancer-causing mutation is identified – the
risk for associated cancers is increased. First-degree relatives,
including parents, siblings, and children, have a 50 percent
chance to carry the same mutation.
Advice: Genetic counseling is recommended for all family
members to clarify their risks.
Negative Result: No breast cancer-causing mutation is
detected in the genes included in the panel. The significance of
a negative result is dependent upon each individual’s personal
family history.
Advice: It is important to discuss the significance of a negative
result with your physician or genetic counselor.
Variant of Unclassified Significance: A genetic change
referred to as a variant is identified in one of the genes in
the cancer panel. Variants, which are changes in the gene
structure, may or may not have a harmful effect on how the
gene functions.
Advice: The laboratory does not have enough information to
determine if the variant results in an increased risk for cancer
or not. Further research needs to be carried out to understand
whether the change is harmful or not.
then be offered a panel test of 21
(or more) breast cancer related
genes to identify the disease causing
mutation.
Who Should have a
Genetic Test?
• Women with breast cancer
diagnosed prior to menopause
(or below the age of 50.)
• Women having three or more
close relatives (mother, sisters,
aunts) affected with breast cancer.
• Women who have cancer in both
breasts.
• Women who have had ovarian
cancer at any age.
• Women who have both breast
AND ovarian cancer.
• Women who have male breast
cancer in the family.
Should Individuals
Considering Genetic
Testing Consult With a
Genetic Counselor?
Genetic counseling is generally
recommended before and after any
genetic test for an inherited cancer
syndrome. This counseling should
be performed by a health-care
professional who is experienced
in cancer genetics and counseling.
Genetic counseling usually covers
many aspects of the testing process,
including the following:
• A hereditary cancer risk
assessment based on an
individual’s personal and family
medical history
• Discussion of:
• The appropriateness of genetic
testing.
• The medical implications of
a positive or a negative test
result.
• The possibility that a
test result might not be
informative.
• The psychological risks and
benefits of genetic test results.
• The risk of passing a mutation
to children.
• Explanation of the specific test(s)
that might be used and the
technical accuracy of the test(s) H
E:
23
Sep/Oct 2015