Genetics counselling

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2. Genetic
counseling
 Presentation by;
Sindhu Sebastian
Lecturer
FMCON
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3. Counseling
Webster’s Dictionary
Counseling is consultation, mutual
interchange of opinions,
deliberating together.”
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4. Genetics
 The term genetics was introduced by
Bateson in 1906.It has been derived
from Greek word „gene‟ which means
„to become‟ or „to grow into.
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5. Brief history
George Mendel
( the father of genetic)
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6. General concept
 Genetic: Branch of science which studies
genes and the pattern of inheritance of
particular diseases
 Inheritance: The passing of familial
elements from one generation to the next.
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7.  Gene – Basic unit of genetic
information. Genes determine the
inherited characters. It is the
functional subunit of DNA and
contain instruction for making
protein.
 Chromosomes – storage units of
genes. A structure within the cell
that deliver the genetic material as
DNA.
 DNA - is a nucleic acid that
contains the genetic instructions
specifying the biological
development of all cellular forms
of life Molecule encodes the
genetic information.
 Genome – the collection of
genetic information

8. Genetic pedigree: a diagrammatic
representation of diseases history in a
family up to 3rd degree relative.
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10. Pattern of inheritance
 Human cell contain 23
pairs of chromosomes. 22
pairs autosomal and one
pair sex chromosomes.
 23chromosomes inherited
from mother and 23
chromosomes from father.
 Sex chromosomes: XX for
female and XY for male.
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11. Pattern of inheritance
 Mutant gene: means
abnormal gene which can
not perform its function
in proper way.
 Affected individual:
individual who is known
to has disease.
 Carrier individual:
individual who appear
normal but has one copy
of mutant gene.
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12. Genetics
DEFINITION:
Genetics is defined as a branch
of medical science sciences
which concerned with the
transmission of characteristics
from parents to offspring.
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13. Genetic counseling
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14. Genetic counseling
Genetic counseling is a process by
which patients or relatives, at risk
of an inherited disorder, are
advised of the consequences and
nature of the disorder, the
probability of developing or
transmitting it and the options open
to them in management and family
planning in order to prevent or
avoid it.
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15.  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
interpretation of family and medical
histories to assess the chance of disease
occurrence or recurrence, education
about inheritance, testing, management,
prevention, resources and research, and
counseling to promote informed choices
and adaptation to the risk or condition”
(NSGC, 2005).National Society of Genetic
Counselors
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16. Genetic counselling
 Providing of information regard
health and support by a specialist
doctor “a geneticist” to client (a
person who perform genetic test).
 This complex process can be seen
from diagnostic (the actual estimation
of risk) and supportive aspects
 Genetic counseling
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17. Aims of genetic counseling
 The genetic counseling aims to provide the family
with complete and accurate information about
genetic disorders.
1. Promoting informed decisions by involved
family members
2. Clarifying the family‟s options available
treatment and prognosis
3. Explaining alternatives to reduce the risk of
genetic disorders
4. Decreasing the incidence of genetic disorders
5. Reducing the impact of the disorders
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18. Function of genetic counselling
session
 Provide information
 Available solution
 Help person to understand and cope
with his condition
 Testing the risk of recurrence
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19. INDICATIONS FOR GENETIC COUNCELING
 1. Hereditary disease in a patient or
family
 2. Birth defects
 3. Mental retardation
 4. Advanced maternal age
 5. Early onset of cancer in family
 6. Miscarriages
 7. Malformations
 8. Tendency to develop a neurologic
conditions
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20. INFORMATION CONVEYED IN GENETIC
COUNCELING:
 1. Magnitude of risk of occurrence or
recurrence
 2. Impact of disease on patient and
family
 3. Modification of disease impact or
risk
 4. Anticipated future development
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22. STEPS OF GENETIC COUNCELLING:
 Diagnosis
 Prognosis
 Treatment
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23. WHO ARE GENETIC COUNSELLERS ?
 Postgraduates health professionals with a graduate
diploma or Master's in genetic counseling.
 Experience in the areas of medical genetics and
counseling.
 Identify family at risk, investigates the problems
present in the family, interpret information about the
disorder, analyze inheritance patterns and, risk of re-
occurrence & review available option with the family.
 Serves as educators and resource people for other
health care professional sand for general public.
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24.  work in administration capacities.
 A team of physician ,nurse and social
worker who undergone special
training in genetic counseling
 Many engage themselves in research
activities related to the field of
medical genetics & genetic
counseling
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25. WHAT IS THE ROLE OF GENETIC COUNSELLING ?
Genetic Counselors provide genetic
information. It is their counselling skills,
including their ability to empathically
connect with their patients that leads to
demands for their skills.
Good Genetic Counselor have many
strengths. They make their clients‟
best interest their foremost priority and
are keenly attuned to complex
professional and ethical challenges.
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26. Genetic Counselor use non-directive
counseling method to provide the
best service to those who need them
To develop a mutual relationship with
the client, to understand her or him, to
relieve any psychological distress,
promote a sense of control, and help
find solution to specific problems.
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27. Assess the client‟s strengths, values
and needs; provide an
individualization and flexible
counseling style to suite each client‟s
need and agenda; develop an
awareness of self; and attend to their
own inner life.
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28. The counselor tends to give advice,
make decision, be coercive,
persuasive, influencing, directing
and controlling.
The counselor communicates,
enables, explores, encourages,
informs, offers choices, discusses
,promote autonomy ,is empathic,
non-judgmental, and respectful of
the client.
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29. nurse as genetic counselor
 Important role in follow up, clarifying
information, providing continuous support to
the grieving process as appropriate
 Helps to decrease the risk of transmitting the
disorder
 Discus along with genetic counselor and
family members on alternative arrangement as
adoption, Artificial insemination, surrogate
pregnancy, prenatal diagnosis with selective
abortion, prenatal treatment ,curative
treatment ,genetherapy and fetal surgery
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30. PRE-REQUISITES OF GENETIC COUNSELLING IS
 Detailed family history.
 Accurate diagnosis.
 Understanding the medical aspect of the
disorder (etiology, natural history, treatment,
prognosis, burden ).
 Understanding the inheritance pattern (
recurrence risk
 Understanding the psycho-social impact of the
information.
 Training / experience in counselling
techniques.
 Understanding the concepts of health / disease
/ healthcare in the appropriate cultures.
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31. Genetic counselling ethics
 Respect the right of individual
 Non- directive approach
 Keep privacy of individual and family
 Maintain the communication between
counsellor and his client
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32. IN SHORT GENETIC COUNSELLING IS
Determine the facts :
 Diagnosis, etiology, and inheritance patterns,
prognosis, natural history, treatment and re-
occurrence of risk.
Transmitting the information :
 To those requesting it in a sensitive, culturally
appropriate, understandable way.
Supporting the decision :
 Supporting the decision making process of the
couple.
Genetic counselling :
 It is non-directive.
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33. Genetic screening
Definition:
A search in apparently normal population
for individual with abnormal genes
which increase their risk or their offspring
of being affected by a disease.
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34. Types of genetic screening
1. Carrier identification
2. Prenatal diagnosis
3. Newborn screening
4. Forensic screening ( paternity test)
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35. conclusion
 Many diseases have genetic root
 The genetic screening is an essential
issue in most stages of the life.
 Genetic counselling aim is to bridge
the gap for people between genetic
field complexity and their life.
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36. Any question ?
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