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Principles of
Clinical Genetics
Genetic
- ~~--- Counseling
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Dr Akshara \
COMPETE.N'CY
A N 75 .S De sc rib e th e pr inc ipl es of
genetic counseling.
INTRODUCTION
Q. Define genetic counseling.
• Genetic counseling is defined as the clinical counseling of
a patient or his/her relative who is at the risk of a genetic
disorder.
• It is the counseling to make the individual aware regarding
the genetic disease condition, risk of inheritance, and
possible modalities for prevention and treatment.
•genetic counselor.
The person who performs genetic counseling
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A,ims ofGe:n·et,ic Counseling
The process of genetic counseling aims to:
• Pifovide information on genetic disorders.
• Diagnose the case and other family members who are at risk of
genetic disorder s.
• Assess the inheritance pattern of the disease.
• Provide m,edlcal and psychological support.
• Advise prevention of hereditary diseases.
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lnd:icatio.ns for Genetic Counseling
Q. List the indications for genetic counseling.
• Family history-of genetic abnormality (A child with birth defect)
• Maternal age more than 35 years
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• Fetal .anomalies
• Consanguineous marriage
• Repeated miscarriages, infertility
• Teratogen exposure in pregnancy
• Child adoption, developmental delay
• Case of disputed paternity
• Diagnosed case of genetic abnormality
• Suspected case of inborn errors of metabolism.
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History of genetic abnormality
Disputed paternity~ ! . ,I Maternal age >35 years
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Genetic
Developmental delay ► counseling ◄ Fetal anomalies
indicators
Teratogen exposure)'
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Repeated miscarriages, in
'Consanguineous marria
fertility
ge
inborn error of metabolism
Fig. 15.1: Indications fo
r genetic counseling.
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STEPS OF GEN:ETIC COUNSELING
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Q. list the steps in genetic counseling.
The genetic counseling involves six phases as follows:
Phase 1: Assessment
• This phase is related to acquire the knowledge regarding clinical history of the patient.
• It includes present and past history, family history, obstetric history (history of infertility,
abortions, stillbirths) and consanguineous marriage.
• Pedigree charting: It helps to show the occurrence and appearance of a particular gene in
family of an individual. It helps to assess the mode of inheritance.
Phase 1: Assessment
•
Phase 2'; Diagnosis
Phase 3: Analysis
•
Phase 4: Communication
•
Phase 5: Treatment and support .
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Phase 6: Preventi0n and follow-up ]
,wchart 15.1: Steps of genetic cour
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STEPS OF GENETIC COUNSE-LING
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Phase 2: Diagno sis
• The diagnosis of the disease can be done using following methods:
-Phenoty pic screening
-Molecul ar or chromoso mal analysis
-Prenata l diagnosis .
• The selection of method depends on the suspected disease and the status of patient (such as
live-born baby, pregnant woman and so on).
Phase 3: Analysis
• It includes pedigree charting and estimation risk.
• Risk of the disease is estimated on the basis of mode of inheritanc e, pedigree charting and
results of various diagnosti c tests.
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STiEPS ·OF G'.ENETIC COUNSELING
Pha se 4: :'Com:munication
• T he vital role of the coun selor is to explain the information gain ed
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from anal ysis (Phase 3) to
the ,patient.
• Commun:ication phas e inclu des following factors:
-Eth ical trans miss ion of information
-Emo tiona l supp ort
-Cre ation of right view in famil y mem bers towards the disea se
-Edu catio n on disea se (pres ent and future status) and available treat
ment s
-Edu catio n on invol ved risk of inheritance
-Adv ise on treatment, prevention and rehabilitation.
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STEPS OF GEN ETIC COU NSE LING
Phase 5: Treatm ent and Suppo rt
tive measu res are
• Many genetic disorde rs do not have an availab le cure treatme nt. Only suppor
sugges ted to improv e the status of an individu al.
on, availab ility
• Advise on gene therap y and stem cell therapy is given depend ing on the diseas e conditi
and econom ic conditi ons.
Phase 6: Preven tion and Follow -up
• Patien t may be asked to visit multipl e times for psycho logical counse ling as per the need.
on pregna ncy
• \f there is risk of transm ission of the disease to the next genera tion, advise to be given
tion of diseas e
(use of in vitro fertiliza tion, artificia l insemin ation, prenata l diagno sis and so on) for preven
transm ission.
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Definition
Eugenics Jis ,the science to improve the genetic quality of the human population by sel·ective breeding
(Introduced by :Francis Galton, 1883). •
Methods for Eugenics
•Increasing r;ate of sexual reproduction in desired population (positive eugenics).
•Reducing :ratejof reproduction or sterilizing affected (diseased) population (negative eugenics).
,Current Practice
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Eugenics is practiced in genetic counsei•ing and prenatal diagnostics.
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