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Genetic

Counseling
Dr. Bheem Prasad (Ph.D)
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What is Genetic Counseling?


Communication process that deals with the
human problems associated with the
occurrence of a genetic disorder in a family
(The American society of human genetics).

Genetic counselors
An individual who seeks counseling is known
as a Genetic counselor or consultant.

Who are Genetic Counselors?


Health professionals with specialized graduate
degrees and experience in the areas of medical
genetics and counseling.
Most enter the field from a variety of disciplines,
including biology, genetics, nursing, psychology,
public health and social work.

Where do Genetic counseling work?


Majority of genetic counselors work at:
University medical centers
Private or public hospitals

Some genetic counselors:


Work in laboratories
Coordinate research studies
Are employed by the state
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What do Genetics Counselors Do?


Work as members of a healthcare team
Assess the risk of a genetic disorder.
Provide support and information to help a person make a decision
about testing.
Interpret results of medical tests and data.
Explain possible treatments or preventative measures
Discuss reproductive options
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Advantage and disadvantage of


Genetic counselling
The aim of genetic counselling is to help
people to make well informed decisions for
themselves based on information available.
Advantage: Analysis of a family tree
allows the expert to chart he pattern of the
disorder.
Disadvantage: It is of limited value in that
it can only offer an assessment of risk.
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Incidence of Chromosome Abnormalities in India

Down syndrome: 6.5%


Turner syndrome: 2.3%
Mental retardation: 13.7%
Thalassemia, haemophili, leukemia: 11.5
NTD: 8.5
Recurrent abortion+infertility: 5.0%
Muscular dystrophies: 0.8%

Essential
Essential Components
Components of
of
Genetic
Genetic Counselling
Counselling
Recurrence Risk

History and
pedigree
construction

Follow-up

Clinical
Examination

Confirmatory
diagnosis

- History findings
- Clinical examination findings
- Radiology findings
- Laboratory parameter results
- DNA studies results
- Others

Calculation of
recurrence risk

Counselling

Available
options

When should a patient be referred for


genetic counseling?
Has a pregnancy at age 35 years or older
Has a history of infertility or multiple pregnancy
losses
Has a family history of an inherited condition
such as cancer, blood disorders, neurogenic
conditions etc.
Has a child with a chromosome abnormality
Has a child with short stature, growth delay or
overgrowth syndrome

Steps in Genetic Counseling


1. Establishing the diagnosis
2. Estimation of a recurrence risk
3. Communication of relevant
information in a sympathetic
manner.

1. Establishing the diagnosis


A correct diagnosis must be established by
Taking a history of proband and family
Construction a pedigree chart
Carrying out an examination
Undertaking appropriate investigation of the
proband.
Include chromosome and molecular
studies.
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2. Estimating of a recurrence risk


The calculation of recurrence risk is relatively
straight forward and follow mendelian
inheritance.
Risk is applied to each child and matter of
chance.
Parents have to make their own decision
whether or not to have another child.

pre-natal diagnosis is offered when high


risk.
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Female carrier* mates with normal male


FxM

X NX A

Sperm
XN

XNY

XN
Eggs
XA

XNXN

X NY

normal

normal

XAXN
carrier

X-linked
recessive disease

XAY
affected

Half* her daughters will be carriers


Half* her sons will be affected
*on average

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Affected male* mates with normal female

FxM

X NX N

Sperm
XA

XAY

XN
Eggs
XN

XNXA

X NY

carrier

normal

X-linked
recessive disease

XNXA

XNY

carrier

normal

All his daughters will be carriers


None of his sons will be affected
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X-linked dominant disease


Affected male mates with normal female

FxM

X NX N

Sperm
XA

XAY

XN
Eggs
XN

XNXA

X NY

affected

normal

XNXA

XNY

affected

normal

Half* her daughters will be affected


Half* her sons will be normal
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Areas of genetic counseling


Chart Title

Prenatal ; 29%
Others (Monogenic Disorders) ; 33%

Pediatric ; 13% Cancer; 25%


National Society of Genetic Counselors, 2012
Professional Status Survey:

Areas of genetic counseling


The majority of genetic counselors
practice in the following areas of
specialty:
Prenatal
Pediatric
Cancer Genetics
Other (monogenic disorders)

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Indications of Genetic
counseling
Presence of congenital malformation lethal or
nonlethal.
Unexplained mental retardation
Neuromuscular disorder
Childhood deafness.
Unexplained still birth
Infertility
Familial cancer
Single gene disorder like Thalassemia.
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Process of Genetic
counseling
Taking information:
Pedigree construction and analysis
Detailed clinical examination
Diagnosis
Investigation of family members
Giving information
Nature and course of disorder
recurrent risk
possible treatment
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Availability of future testing.


Prenatal diagnosis if possible
Decision making
Referral to other specialists and health
agencies
Follow up:
Continuing clinical assessment
Psychological support
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Techniques of Genetic counseling


1. Karyotype

2. Aminocentesis

Tests for abnormalities of chromosomes


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Techniques
3. Pedigree Analysis

This is a common
test used to
determine the risk
of a child having a
genetics disorder.

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Patterns of Inheritance
Patterns in the pedigree are used to determine how a
trait is inherited
(I)Autosomal inheritance: Traits are caused by genes on autosomes
(chrms 1- 22)

1. Autosomal dominant (e.g. Huntingtons Disease)


2. Autosomal recessive (e.g. PKU)
(II) Sex-linked inheritance: Traits are caused by genes on the sex
chrms (X or Y)

1. X-linked dominant (e.g. hypophosphatemia)


2. X-linked recessive (e.g.,color-blindness, hemophilia)
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3. Y-linked

1. AUTOSOMAL DOMINANT DISORDER


Arise due to defect in at least one gene out of a pair of
genes on AUTOSOMES.

Features:
Disease usually appears in each generation
Vertically transmitted
Affected individual has an affected parents.
Male and female offspring are equally affected.
Most patients are heterozygote for the mutant allele.
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2. AUTOSOMAL RECESSIVE DISORDERS


Occur when both the genes on autosomes are
affected.
Features:
An affected offspring may or may not have an
AFFECTED PARENTS
Usually appears suddenly in the family
Male and female are equally affected.
Most of the offspring are normal in the family
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X LINKED DOMINANT
DISORDERS
Arise from an affected heterozygote.

FEATURES
Both sexes are affected, but males (being hemizygous) are
more severely affected.
All the daughters affected from affected father.
Affected heterozygous females transmit there disorders to
male and female equally.
presence of excess affected females and lack of male to male
transmission confirms the X linked dominant pattern.

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X LINKED RECESSIVE DISORDERS


Arise in female recessive homozygotes.
Features:
Males are mostly affected.
Affected males are related through carrier females.
Affected males transmit their defective gene only to
daughters, that become carriers.
May appear to skip a generation

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Premarital Screening
*Man -History
Blood
Sample

-(Physical Examination)

Genetic Screening (Laboratory)


Carrier

Normal

affected

**Women History
-(Physical examination)

Blood
Sample

Safe
Marriage

No Problem from
marriage from
any Women

Genetic Screening (Laboratory)


Carrier

Not safe
Marriage

affected

Genetic Counseling(advise no
marriage with carrier or affected)

Normal
No Problem from
marriage from
any man

Safe
Marriage

Clinical cases
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Prenatal genetic
counseling

Prenatal Genetic counseling


(Case 1)
Ms. Asha is a 28 year old woman.
She is 17 weeks pregnant and this is her first
pregnancy.
She has a routine blood test at her office.
She is told that it screens for Down syndrome
and some other conditions.
A week after the test ,she receives a call from
the nurse saying she came back screen
positive for trisomy.
She is referred to a genetic counselor.32

Role of Prenatal Genetic counseling

Review results of screening test


Obtain pregnancy and family history
Explain the cause and features of trisomy 18
Discuss further testing options
Facilitate decision making
Follow-up with further testing results

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Pediatric genetic
counseling

Pediatric Genetic counseling


(Case 2)
Seema is a 2 year old girl who was born with
profound hearing loss.
She is the only individual in her family with
hearing loss.
She was recently evaluated by an ENT to consider
cochlear implants.
The ENT recommended that she have a Genetics
evaluation to understand the cause of her hearing
loss.
She is referred to a genetic counselor.
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Role of Pediatric Genetic counseling

Work closely with a medical geneticist


Review medical records
Obtain pregnancy, medical and family history
Discuss known causes of hearing loss
Discuss testing options
Coordinate testing
Counsel regarding test results and recurrence
risk
Provide written information
Identify appropriate community resources
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Cancer genetic
counseling

Cancer Genetic counseling


(Case 3)
Usha is a 48 year old woman who is referred to a
genetic counselor because her sister was recently
diagnosed with ovarian cancer at age 52. Her
father and paternal grandmother were also
diagnosed with breast cancer at ages 58 and 45
respectively. Usha tells you her sister has a
mutation in the BRCA-2 (chromosome 13q)
gene.
She is referred to a genetic counselor.
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Role of Cancer Genetic counseling


Obtain medical records and relatives test results
as appropriate
Obtain family and medical history
Pedigree analysis
Discuss features and genetics of Hereditary Breast
and Ovarian Cancer
Discuss risks and benefits of genetic testing
Review cancer risks and options for risk reduction
Arrange for testing if desired and follow-up
counseling
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Chromosome Deletion Syndromes


Microscopically visible deletions of terminal
portions of:
Chromosome 5p - Cri-du-Chat

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Microdeletion Syndromes
Syndrome

Chromosome

Williams
Langer-Giedion

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8

Angelman

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Prader-Willi

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Miller-Dieker
DiGeorge

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22
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Special Problems in Genetic


Counseling
Consanguinity and Incest
Adoption and genetic disorders
Disputed Paternity

Consanguinity and Incest


Consanguineous Marriage is between
blood relatives who have at least one
common ancestor no more remote than
great-great grand parent
Incest - union between first degree
relatives (brother-sister, parent-child)

Proportion of Genes Shared


Genetics relationship
abnormality
of partners

Proportion shared

First Degree
parent-child
brother-sister

1/2

50%

Second Degree
uncle-niece
aunt-nephew

1/4

5-10%

double first cousins

1/8

3-5%

genes

Risk of
in offspring

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