GENETIC COUNSELLING

PRESENTED TO: PRESENTED BY:

MR. MAYANK KUMAR JAIMINI SHILPA PURI
ASST. PROFESSOR 1st yr MSc.( N)
S.C.O.N Dehradun S.C.O.N Dehradun
 COUNSELLING is a helping process where one
person, explicitly and purposefully gives, his/her
time, attention & skills to assist a client to explore
the situation, identify & act upon solution within
the limitations of their given environment.

 GENETIC COUNSELLING process follows

these basic characteristics of a counselling process.
It is undertaken with families confronted with
genetic and inherited disorders.
DEFINITION:
Genetic counseling is the process of helping people
understand and adapt to the medical, psychological and
familial implications of genetic contributions to disease.
This process integrates the following:
 Interpretation of family and medical histories to assess the
chance of disease occurrence or recurrence.
 Education about inheritance, testing, management,
prevention, resources and research.
 Counseling to promote informed choices and adaptation
to the risk or condition. -National Society of Genetic
Counselors (NSGC) 2005
Genetic counseling is the process
whereby an individual or family
obtains information about a real or
possible genetic problem.
—Hsia and Hirschorn (1979)
OBJECTIVES:
 To provide information about genetic disorder.
 Promoting informed decisions by involved family
members.
 Clarifying the family’s options ,available treatment
and prognosis.
 Explaining alternatives to reduce the risk of genetic
disorder.
 Decreasing the incidence of genetic disorder.
 Reducing the impact of the disorders.
 Testing the risk of recurrence
TYPES OF GENETIC
COUNSELLING:
1..Prospective genetic counselling
2.Retrospective genetic counselling
3.Pediatric genetic counselling
4.Adult genetic counselling.
5.Cancer genetic counselling.
Prospective genetic counselling:

This allows true prevention of disease. In this

the genetic disorder has not yet expressed itself.
Retrospective genetic counselling:
Most Genetic Counselling at present is retrospective
that is the hereditary disorders has already occurred
within the family.
The methods which could be suggested under
Retrospective Genetic Counselling are:
 Contraception
 Pregnancy Termination
 Sterilization
 Key points:
 Late marriages: Genetic defect through Trisomy 21,
Mongolism can be prevented by early marriages than late
marriages.
 Protection of individuals and the whole community against
chemical mutagens.
 Protecting people from unnecessary exposure to X-ray by
protective aprons.
 Detection of genetic carriers in numerous disorders e.g.
hemophilia will help in prevention.
 Prenatal diagnosis through amniocentesis (as early as 14
weeks of pregnancy) for mothers aged 35 and above for
Down’s Syndrome and muscular dystrophies will help in
early prevention.
 Screening of new born infants , sex chromosome
abnormalities
Pediatric Genetic Counselling:
Families seek genetic counseling when a
child has features of an inherited condition.
Adult genetic counselling:
 When an adult begins exhibiting symptoms
of an inherited condition, or when there is
new diagnosis of someone with an adult
onset disorder in the family
Cancer genetic counselling:
It can be done with a family history of early
onset breast, ovarian or colon cancer in
multiple generations of a family.
PHASES OF GENETIC
COUNSELLING
 ASSESSMENT PHASE

DIAGNOSIS PHASE

ANALYSIS PHASE

COMMUNICATION PHASE

REFERRAL AND SUPPORT

1.Assessment Phase:
This is primary beginning phase of
counselling .It includes:
• Initial interview with counselee
• Collect family history and other relevant
history.
• Physical examination
• Considering potential diagnosis based on
collected information
 Diagnosis phase:
It includes:
• Confirmatory/supplementing
testing:
• Chromosomal analysis
• Biochemical tests
• Molecular DNA testing
• X-ray , Biopsy
• Developing testing
• Immunological test
 3.Analysis Phase:
• Literature search and review of information.
• Consultation with other experts.
• Compiling of information and determination
of recurrence risk.
 4.Communication Phase:
• Communication of the results and risk to the
counselee and to the family if appropriate.
• Discussion of the natural history of disorder
,treatment ,anticipatory guidance.
• Discussion of option and review of question.
• Clear all doubts of the patients.
5.Referral and support phase:
• Refer the individual to genetic specialist for further
intervention
for example prenatal diagnosis or treatment modalities
for different disorders.
• Support of decision made by counselee.
• Psychological support should be provided throughout
the process.
• Follow up and evaluation.
1.Degree Level- Master's degree

2.Degree Field -Genetic counseling, biology,

psychology, or related field

3.Key Skills- Excellent writing, communication,

and decision-making skills; knowledge of human
mutation databases and genome browsers;
knowledge of Human Genome Variation Society
(HGVS) nomenclature
GENETIC COUNSELLING
TEAM MEMBERS:
 Medical specialist
 Genetic counselor
 Genetic nursing officer
 Social workers with a special interest in genetics
and particular genetic conditions
 Family members
 Religious support members
Role of Nursing Officers:
TO COMPREHEND THE MEDICAL FACTS,
INCLUDING DIAGNOSIS,PROBABLE
COURSE OF DISORDER AND THE
AVAILABLE MANAGEMENT.
 Advise on antenatal screening..
 Advise on the alternatives to normal
conception
 Collect other related information from
individual and family .
 Identify families at risk, investigate the
problems present in the family.
 Obtain prenatal ,family and other family histories from
individual and family.
 Collect primary physical information
 Check with the government policy for information and
resources regarding neonate testing required, state
regulations on genetic testing and research.
 Recognize that there are many ethical, legal ,
psychosocial and professional issues associated with
obtaining, using and sorting genetic information.
 Obtain an informed written consent for any planned
genetic test/intervention.
 Create a genetic pedigree including the
cause of death and any genetically linked
ailment.
 Provide psychological support.
 Provide information about hereditary
pattern.
 Assist with the diagnostic process
 Maintain privacy and confidentiality
 Encourages the individual and family to ask
question as much as they can understand
about all aspects disorders, testing and
management and provide all explanation
about all the question.
 Ensure follow up and supportive services
Practical application of Genetics in
Nursing:
 Understands genetics basis of disease.
 Early and effective diagnosis of genetic
disorder.
 Contributes towards health promotion
with genetic aspects.
CONT..
Management and care of genetic
disorders.
Genetic information and counseling
referral services.
Social and ethical issues in genetics.
REFERENCES:
BOOK :-
 BAMSHAD WHITE &CAREY JORDE(2007) ‘Medical
Genetics ,3rd edition, Reed Elsevier India (P) Ltd., New
Delhi , Page no. 307-313
 BROWN TA (2007) “Genomes”,3rd edition ,Garland
Science Publishers, U.S.A
 GANGANE SD “Human Genetics (2008) ,3rd edition,
Reed Elsevier India (P) Ltd., New Delhi ,Page no. 207-
216
 MANDAL S. (2010) “Fundamental of Human Genetics ,
2nd edition, New Central Book Agency (P) Ltd., Kolkata
 SHARMA K SURESH (2008) “Human Genetics in
Nursing”, Jaypee Brothers (P) Ltd., New Delhi, Page no.
106-108
NET INFORMATICS:-

 https://www.ncbi.nlm.nih.gov/books/NBK13213
9
 https://www.slideshare.net/10000752091558/gen
etic-counselling?from_m_app=android
 https://genetic.counselling.biology.ualber.ca/
 https://www.slideshare.net/sindhujojogenetic-
counselling-3973729?from_m_app=android
 https://patient.info/doctor/genetic-counselling-
a-guide-for-gps
YOUR GENETICS LOAD THE
GUN AND YOUR LIFESTYLE
PULLS THE TRIGGER…..