2. – Cancer genetic counselling is a communication process
between a health-care professional and an individual
concerning cancer occurrence and risk in his or her family.
MAIN ELEMENTS
1. Diagnostic and clinical aspects
2. Documentation of family and pedigree information
3. Recognition of inheritance patterns and risk estimation
4. Communication and empathy with those seen
5. Information on available options and further measures
6. Support in decision-making and for decisions made
WHAT IS GENETIC COUNSELING?
3. WHO IS A CANDIDATE FOR CANCER
GENETIC COUNSELING?
4. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Precounseling Information / Contracting :
– Contracting is the term used to describe the
beginning of the encounter when the counselor
and counselee share their intentions for the
session.
– Counselee should be informed about:-
• what to expect at each visit
• what information he/she should collect ahead of
time
5. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Precounseling Information / Contracting :
– “Doorknob syndrome” is common and results
when patients are not given the opportunity to
share their thoughts and concerns with providers
and choose to do so only near the end of the
session.
– Contracting may actually shorten the length of a
genetic counseling session, as it can potentially
prevent the “doorknob syndrome”.
6. INFORMED CONSENT
– “The process of obtaining a patient's permission
for a procedure after the patient and doctor have
discussed the risks, benefits, and alternatives of
the procedure and the patient understands them.”
7. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Obtaining the Family History:
– Family history should include at least three
generations
– Important to gather information on both maternal
and paternal lineages
– Particular focus on individuals with malignancies
(affected) and noncancer phenotypes associated
with inherited cancer predisposition syndromes
8. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Information on All Individuals:
• Important to document each individual’s age or
age at death as well as his/her personal history of
cancer or benign tumors.
• Important to include the presence of nonmalignant
findings in the proband and family members, as
some inherited cancer syndromes have other
physical characteristics associated with them (e.g.,
trichilimommas with Cowden Syndrome).
9. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Information onAll Individuals:
– General medical information can also be pertinent
to the patient’s future medical management.
– Lifestyle factors can influence hereditary cancer
risk, such as smoking.
10. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Information onAffected Individuals:
– For individual affected with cancer:-
• Important to document the exact diagnosis, age at
diagnosis, treatment strategies, and environmental
exposures(i.e., occupational exposures, cigarettes,
other agents).
– The current age of the individual, laterality, and
occurrence of any other cancers must also be
documented.
– Cancer diagnoses should be confirmed with
pathology report.
11. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Information onAffected Individuals:
– Details about the pathology of the tumor can be
very helpful.
E,g:-
Invasive ductal breast cancers that are ER, PR, and
HER2 negative on pathology (“triple negative” or
“basaloid type”) are typically can be associated with
BRCA1 mutations while lobular breast cancer can
be associated with CDH1 mutations.
12. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Accuracy of Information:
CHALLENGES-
– Individual’s knowledge of the family history
– Information provided can be incorrect
– Unsure of the details surrounding that diagnosis
– Family histories can change over time
13. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
DNATesting:
– DNAtesting can be very expensive.
– DNA testing offers the important advantage of
presenting clients with actual risks instead of the
empiric risks derived from risk calculation
models.
14. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Ideal Testing Candidate:
– Testing should begin in an affected family member
whenever possible to maximize scientific accuracy.
– An individual who diagnosed with a component
tumor at a young age or an individual who has two
primary component tumors.
– When a family mutation is identified, unaffected
individuals should then be offered testing, as
interpretation of test results are clear in this
scenario.
15. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Timing of Genetic Testing:
– For most of the inherited cancer syndromes, genetic testing
takes 4–12 weeks .
– BRCA1/2 genetic test results are typically available within 14
days of blood draw.
– The information gleaned potentially affect surgical decision
making if the results are available prior to definitive surgery.
– If a woman tests positive for a deleterious mutation, for
example, she may choose mastectomy to treat her cancer and
also undergo contralateral prophylactic mastectomy to reduce
the ≤ 60% risk of developing a second breast malignancy.
16. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Timing of Genetic Testing:
– Genetic testing for p53 mutations can take as little
as 3 weeks.
– It is well known that p53 mutant cells are
extremely sensitive to DNAdamage .
– DNA damaging agents (e.g., chemotherapy and
radiotherapy) used for treatment of a cancer in an
individual with Li-Fraumeni Syndrome (LFS)
can cause a second malignancy.
17. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Choosing the Right Laboratory:
– Costs and payment options are important to
review with patients.
– Important to review the technologies offered at
each laboratory in order to offer the most
appropriate test to the patient.
– Time is important to consider especially if the
results are going to be used for immediate
medical management as in the case of breast
cancer.
18. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Options for Surveillance, Risk Reduction, and
Tailored Treatment:
– Cancer risk counseling session is a forum to
provide counselees with information, support,
options, and hope.
– Mutation carriers can be offered:- earlier and
more aggressive surveillance, chemoprevention,
and/or prophylactic surgery.
19. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Options for Surveillance, Risk Reduction, and Tailored
Treatment:
Options for BRCAcarriers:-
– annual mammograms beginning at age 25 years,
– clinical breast exam by a breast specialist,
– Yearly breast magnetic resonance imaging (MRI) with a
clinical breast exam by a breast specialist,
– Yearly clinical breast exam by a gynecologist.
The mammogram and MRI be spaced out around the calendar
year so that some intervention is planned every 6 months.
20. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Options for BRCAcarriers:-
– Recent data suggest that MRI may be safer and more
effective in BRCA carriers <40 years of age and may
someday replace mammograms in this population.
– BRCA carriers may take a selective estrogen-receptor
modulator (SERM) or aromatase inhibitor in hopes of
reducing their risks of developing breast cancer.
– Prophylactic bilateral mastectomy reduces the risk of
breast cancer by >90% in women at high-risk for the
disease.
21. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Options for BRCAcarriers:-
– Women who carry BRCA1/2 mutations are also at increased risk to
develop ovarian, fallopian tube, and primary peritoneal cancer, even if no
one in their family has developed these cancers.
– Surveillance for ovarian cancer includes transvaginal ultrasounds and CA-
125 testing.
– Oral contraceptives reduce the risk of ovarian cancer in all women,
including BRCA carriers.
– Prophylactic bilateral salpingo-oophorectomy (BSO) is currently the most
effective means to reduce the risk of ovarian cancer and is recommended
to BRCA1/2 carriers by the age of 35 to 40 or when childbearing is
complete.
22. COMPONENTS OF THE CANCER
GENETIC
COUNSELING SESSION
Follow-up:
– Follow-up letter to the patient is a concrete means of
documenting the information conveyed in the sessions so that
the patient and his/her family members can review it over
time.
– Afollow-up phone call and/or counseling session may also
be helpful, particularly in the case of a positive test result.
– Provide patients with an annual or biannual newsletter
updating them on new information in the field of cancer
genetics or patient support groups.
23. ISSUES IN CANCER GENETIC
COUNSELING
Psychosocial Issues:
– Counseling session may be quite difficult for some
individuals with a family history who are not only
frightened about their own cancer risk, but also are
reliving painful experiences associated with the cancer
of their loved ones.
– Counselees may be faced with an onslaught of
emotions, including anger, fear of developing cancer,
fear of disfigurement and dying, grief, lack of control,
negative body image, and a sense of isolation.
24. ISSUES IN CANCER GENETIC
COUNSELING
Psychosocial Issues:
– Counseling session is an opportunity for individuals to
express why they believe they have developed cancer, or
why their family members have cancer.
– By doing this , counselor will allow the clients to alleviate
their greatest fears and to give more credibility to the
medical theory.
– Preliminary data have revealed that individuals in families
with known mutations who seek testing seem to fare better
psychologically at 6 months than those who avoid testing.
25. ISSUES IN CANCER GENETIC
COUNSELING
Confidentiality:
– Many programs have built in a “share information
with family members” clause to their informed
consent documents.
– More recent recommendations state that
confidentiality should be violated if the potential
harm of not notifying other family members
outweighs the harm of breaking a confidence to
the patient.
26. ISSUES IN CANCER GENETIC
COUNSELING
Insurance and Discrimination Issues:
– The fear of health insurance discrimination by
both patients and providers is one of the most
common concerns.
– Health-care providers should confidently reassure
their patients that genetic counseling and testing
will not put them at risk of losing group or
individual health insurance.
27. ISSUES IN CANCER GENETIC
COUNSELING
Reproductive Issues:
– Reproductive technology in the form of
preimplantation genetic diagnosis, prenatal
testing, or sperm sorting are options for men and
women with a hereditary cancer syndrome.
– If a BRCA2 carrier is considering having a child,
it is important to assess the spouse’s risk of also
carrying a BRCA2 mutation.
28.
29. FSU COLLEGE OF MEDICINE
What Information Do You
Want?
Nature of the problem
Recommended plan
Prognosis, with or without intervention
Reasonable alternatives (always including
doing nothing)
Risks of recommended plan and
alternatives
Patient’s responsibilities and limitations
Financial considerations?
Other?
30. FSU COLLEGE OF MEDICINE
Elements of Informed Consent
Voluntary
Competent decision maker
Informed
