2. Sheldon reed proposed the terminology
“genetic counselling ’’ in 1947.
Genetic counselling is the process of
advising individuals and families
affected by or at risk of genetic disorders
to help them understand and adopt to
the Medical , Psychological and familial
implications of genetic contribution to
disease.
3.
4. the American society of human
genetics:- define genetic
counselling as a communication
process, which deals with human
problems associated with
occurrence or the risk of
occurrence of genetic disorder in a
family.
5. Smith[1955]:- define counselling as “a
process in which the counsellor assist
the counselee to make interpretations of
fact relating to a choice plan or
adjustments which he needs to make.”
Genetic counselling is a communication
process by which personal genetic risk
information is translated into practical
information for families.
6. 1. Educate people about inherited disorder
and the process of inheritance.
2. Provide concrete, accurate information
about inherited disorders.
3. Allow people who are affected by
inherited disease to make informed choice
about future reproduction.
7. 4. Exposure during pregnancy:- counsellor will ask
about the pregnancy history .if a women has taken
medication or has had exposure to a potentially harmful
substance from the environment such as chemical and
toxins etc. the genetic counsellor can discuss about
possibility of adverse effects.
5. consanguinity:-another question counsellor will ask
is about obtaining a family history whether the couple
are related to one another by blood because it will
increase the chance for their children to be affected with
condition that are in a recessive pattern.
8. 6. Ethnicity:- In obtaining a family history a genetic
counsellor asks about a pattern ethnicity there are some
ethnic groups that have a higher or abnormalities. Example
the chance that an African American is a carrier of a gene
for sickle cell disease is one in ten.
7. Pedigree:- pedigree are family trees which show
parents and offspring across generations as well as who
possessed particular traits. Pedigree of individual families
are used by genetic counsellors to aid them in providing
information to families who may be at risk for various
genetic conditions.
9.
10. 1. Prospective genetic counselling:-
This allows for the true prevention of disease.
This requires identify heterozygous individuals for any
particular defect by screening.
Explaining to them the risk of their having affected
children if they marry another heterozygous for same
gene.
If heterozygous marriage can be prevented or reduced
the prospects of giving birth to affected children will
diminish.
ex. Thalassemia, sickle cell anaemia
11. 2. Retrospective genetic counseling:-
•Most genetic Counseling at present is
retrospective [ the hereditary disorder has already
occurred within the family]
ex. Mental retardation
psychiatric illness
• The methods which could be suggested under
retrospective genetic counseling are-
1.contraception
2.pregnancy termination
3.sterilization
12. 1.Advance parental age
Maternal age ≥ 35yrs
Paternal age≥ 50 yrs
2. Previous child with or family history of:-
Congenital anomaly
Dysmorphism
Developmental delay
Isolated birth defect
Chromosomal abnormality
Myopathy/neuropathy
Ambiguous genitalia
Intellectual disability
13.
14.
15. 3. The partner is blood relatives (consanguinity)
4. The mother had two or more miscarriage or a
baby dies infancy.
5. An amniocentesis yield an unexpected result
[such as chromosomal defect in the unborn baby]
6. If the standard prenatal screening test [such as α
fetoprotein test] yield an abnormal result.
17. An accurate diagnosis of disorder to complete an
accurate diagnosis.
The following procedure should be followed.
1.Introductary phase:- It is first phase in
the genetic counselling in this the counsellor
need to make good report with the individual
who seeks the genetic counselling. counsellor
should gain trust of the patients so that the
person share all his views and problem with you
identify the need concern of patient properly.
18. 2. Assessment phase:- This is primary beginning
phase of counseling in which following take are
accomplished.
•Taking the family history of pregnancy if
appropriate, when a disorder having a genetic basis
is in question a detail family history is essential in
the formulation of family pedigree including second
and third degree relatives.
•Information can also be obtained concerning the
events at birth and post nattily.
•Carry out primary assessment of counselee
physical examination etc.
•Consider potential diagnosis based on collected
information.
19. 3. Diagnostic phase :- It is third step
which is used to establish the diagnosis
this phase includes the following steps.
•Chromosomal analysis .
•Biochemical tests.
•Molecular DNA testing.
•Linkage analysis.
•Ultra Sonography.
•Prenatal diagnosis.
•Immunological test.
20.
21. 4. Analysis phase:- this phase include
the following tasks:-
a. literature search and review of
information.
b. Consulting with other expert.
c. Compiling of information and
determination of reoccurrence risk.
22. 5. Communication:- In this phase information is
conveyed to individual who seeks genetic counselling.
a. This information may include the diagnosis estimates
risk of reoccurrence ,course of condition , possible
therapy and prognosis.
b. Discussion of option and review of question.
c. Information can also be given concerning whether
future reproduction should be considered or whether the
alternatives such as contraception sterilization , artificial
insemination or adoption would be wise.
23. 6. Referral & Support phase :- this phase
is the left step in the counselling process offers the
following services:
a. refer the individual to genetic specialist for further
interventions for example referral for prenatal diagnosis
and treatment modalities for different disorder.
b. support for decision made by counselee.
c. helping the concerned individual or family adjust
psychological to the information any negative emotions
such as guiles and anxiety should be discussed and
alleviated .
24. LEGELAND ETHICAL ASPECT S OFGENETICSCREENING:-
the national society of genetic counselors has
created a CODE OF ETHICS to guide genetic
counselors in caring of people:-
•Respect for autonomy
•Beneficence and Nonmaleficence.[do no
harm]
•Privacy and confidentiality
Justice and equality.
25. •APPLICATION OF GENETICCOUNSELLING:-
genetic counselors work with people concerned about the
risk of an inherited disease or condition there people
represent several different populations.
•Prenatal genetic counseling:-
• Several different reasons a person or couple may seek
prenatal genetic counseling.
•If a woman is age 35 or older and pregnant than there is an
increased chance that her fetus may have a change in the
number or chromosome present.
Prenatal test:-
•Level 2nd ultrasound / anomaly scan
•The maternal serum AFP
•Chorionic villus sampling (CVS).
•Amniocentesis.
26. •Pediatric genetic counseling :-
•Families or pediatric seek genetic counselling when
a child has features of an inherited condition.
•Any child who is born with more than one defect
mental retardation or dysmorphic features has an
increased chance of having a genetic syndrome.
•Adult genetic counseling:-
Adults may seek genetic counseling when a person
in the family decided to be tested for the presence of
a known genetic condition. When an adult begin
exhibiting symptoms of an inherited condition or
when there is a new diagnosis of some one with an adult
on set disorder in the family.
27. •cancer genetic counseling:-
•Family history of early onset breast, ovarian or
colon cancer in multiple generations of family is a
common reason a person would seek a genetic
counselor who works with people who have cancer.
•While most cancer is not inherited. There are some
family in which dominant gene is present causing
the disease.
•A genetic counselor is able to discuss the chances
that cancer in the family is related to a dominantly
inherited gene.
•The counselor can also discuss the option of
testing for the breast an ovarian cancer gene.
28. ROLE OF NURSE IN GENETIC COUNSELLING
•Guiding a woman or couple through prenatal diagnosis.
•Helping parents make decision in regards to abnormal
prenatal diagnostic results.
•Providing support to help the family deal with the emotional
impact of a birth defect.
•Assisting parents who have a child with a birth defect to
locate needed service and support.
•Co-ordinative service of other professional such as social
workers physical and occupational therapist psychologist
&dietician.
29. •Recognize that there are many ethical legal
psychosocial and professional issue
associated with obtaining using and sorting
genetic information.
•Be aware of associated professional
responsibilities including informed consent
documentation in medical record medical
release &individual privacy of information
30. SUMMARY& CONCLUSION:-
Genetic counseling enable couples/affected
individual to make decisions about a future
pregnancy it helps the affected individual to
educate and cope with the disorder with a
minimal clinical problem. There for genetic
counseling is done in an objective manner so
that any treatment selected remains the
personal choice of the individual involved.
