Genetic Counseling

 Genetic counseling is the process of

providing individuals and families with
information on the nature, inheritance, and
implications of genetic disorders to help
them make informed medical and personal
decisions.
 It deals with genetic risk assessment and
the use of family history and genetic
testing to clarify genetic status for family
members.
Genetic Counseling

 Helping people understand and adapt to

the medical,psychological and familial
implications of genetic contributions to
disease
 This is not meant to address all
personal, cultural, or ethical issues that
individuals may face or to substitute for
consultation with a genetics professional
Genetic Counseling

 What does it mean if a disorder seems to

run in my family?.
 What are the different ways in which a
genetic conditions can be inherited?
 If a genetic disorder runs in my family, what
are the chances that my children will have
the condition?
 Why are some genetic conditions more
common in particular ethnic groups?
Steps in Genetic Counseling

 Diagnosis - based on history,

examination and investigations
 Risk assessment
 Communication
 Discussion of Options
 Long-term contact and support
Indication for genetic counseling
 The most common indication include:
1. Advanced maternal age (A woman in her mid-
30's or older who is either planning a
pregnancy or is already pregnant).
2. Concerns regarding a disorder which runs in
a family (known or suspected hereditary
condition in the family), e.g. a malformation,
mental retardation, several relatives with a
specific type of malignancy, or diabetes, or
CHD, or hypertension.
Indication for genetic counseling
3. A fetus or child with birth defects,
including either single or multiple
malformations.
4. Child with mental retardation.
5. Recurrent spontaneous abortion or
stillborn.
6. Couples with unexplained infertility.
7. Neurological disorders
8. Children or adult with developmental
delay, learning difficulties.
Indication for genetic counseling

9. Metabolic disorder.
10. People exposed to teratogens, working
with chemical and radiation field.
11. Consanguinity (Couples who are close
relatives eg. 1st cousins).
12. Ethnic group.
13. Problems with wound healing or
bleeding.
14. Drug reactions.
Genetic Information

• The condition
• Gene(s) involved
• Inheritance pattern
• Availability of testing
• Prevention and available options
Genetic Counseling

• Supportive
• Non-Directive
• Non-Judgmental
• Allow families to make decisions based
on their own personal, cultural, ethical
and social beliefs
• Emphasize the fact that there is nothing
that they have done that caused the fetal
abnormalities
FEAR

“My mother got breast cancer . . . then my

sister and me started to worry”.
Breast Cancer
 What genes are related to breast cancer?
 Variations of the BRCA1, BRCA2, CDH1,
PTEN, STK11 and TP53 genes increase the
risk of developing breast cancer.
 The AR, ATM, BARD1, BRIP1, CHECK2,
DIRAS3, ERBB2, NBN, PALB2, RAD50 and
RAD51 genes are associated with breast
cancer.
Breast Cancer genes
Breast Cancer genes

Gene Chromosomal Protein Name

symbol Locus

BRCA1 17q21 Breast cancer type 1

susceptibility protein

BRCA2 13q12.3 Breast cancer type 2

susceptibility protein
Disease characteristics
 Mutations in BRCA1 or BRCA2 predispose to
breast cancer and ovarian cancer as well as
prostate cancer (BRCA1) and other cancers
(BRCA2).
 The risk of developing cancer that is
associated with a BRCA1 or BRCA2 cancer-
predisposing mutation is not known and
appears to be variable even within families of
similar ethnic background with the same
mutation.
Disease characteristics
 Estimates of breast cancer and ovarian cancer
risks have been derived from families with
multiple affected individuals as well as from
families with few affected individuals and from
population-based studies.
 Prognosis for breast cancer survival depends
upon the stage at which breast cancer is
diagnosed. Prognosis for individuals with
BRCA1 or BRCA2 cancer-predisposing
mutations may not be different from that for
controls.
Diagnosis/testing
 Molecular genetic testing: for probands who
are identified to be at high risk for a BRCA1 or
BRCA2 cancer-predisposing mutation and for
at-risk relatives of an individual with an
identified BRCA1 or BRCA2 cancer-
predisposing mutation.
 No currently available technique can
guarantee the identification of all cancer-
predisposing mutations in the BRCA1 gene or
in the BRCA2 gene.
Cumulative Risk of Breast Cancer by Age in Women from
Families with Cancer-Predisposing Mutations

Cumulative Risk
Age
BRCA1 BRCA2
30 yrs 3.2% 4.6%
40 yrs 19.1% 12%
50 yrs 50.8% 46%
60 yrs 54.2% 61%
70 yrs 85% 86%
How do people inherit breast cancer?

 Most cases of breast cancer are not inherited but are

associated with genetic changes that occur only in
breast cancer cells (somatic mutations) and occur
during a person's lifetime.
 In hereditary breast cancer, the way that cancer risk is
inherited depends on the gene involved.
 Mutations in the BRCA1 and BRCA2 genes are
inherited in an autosomal dominant pattern.
 The inheritance of breast cancer risk is unclear. It is
important to note that people inherit an increased risk
of cancer, not the disease itself.
 Not all people who inherit mutations in these genes will
develop cancer.
Genetic testing
 Genetic testing for breast cancer can
have a huge impact on the lives of those
tested.
 Before being tested, a person must sign
an informed-consent document, which
states that she or he has been fully
informed of the benefits and risks of
testing.
Genetic

 After you receive your test result, it is

important to have a genetic counselor or
other qualified health care professional
interpret the result and discuss your health
management options with you.
 This will make it easier for you to talk with
your other doctors, who will help you make
decisions about how best to address your
cancer risks.
Genetic counseling
 Cancer-predisposing mutations in the BRCA1 and
BRCA2 genes are inherited in an autosomal dominant
manner.
 Each offspring of an individual with a BRCA1 or
BRCA2 cancer-predisposing mutation has a 50%
chance of inheriting the mutation.
 Molecular genetic testing of asymptomatic family
members at risk of inheriting either a BRCA1 or
BRCA2 cancer-predisposing mutation is possible once
the family-specific mutation has been identified.
 Prenatal testing is possible for pregnancies at
increased risk; however, requests for prenatal
diagnosis of adult-onset diseases are uncommon and
require careful genetic counseling.
Genetic counseling
 If one family member has an abnormal breast
cancer gene, it does not mean that all family
members will have it.
 Suppose either your mother or father has a
BRCA1 or BRCA2 abnormality. Your risk of
inheriting the abnormal gene is 50%. Each of
your children has a 25% chance of inheriting
the abnormal gene — 50% of your 50% risk (as
long as the children's father does not have an
abnormal gene).
Genetics clinics

 are a source of information for

individuals and families regarding the
natural history, treatment, mode of
inheritance, and genetic risks to other
family members as well as information
about available consumer-oriented
resources
Pedigree
Pedigree
Pedigree
Pedigree
Colorectal Cancer
Colorectal Cancer
 A 26-year-old woman has come to you
to get "genetic cancer tests." She is
particularly interested in testing for colon
cancer. She has no affected family
members What do you tell her?
Colorectal Cancer
Colorectal Cancer
Colorectal Cancer
Colorectal Cancer
Genotypes
Allele frequency