Genetic counseling: Introduction, definition, purposes of genetic counseling, indications of genetic counseling, beneficiaries of genetic counseling, phases of genetic counseling, role of nurse in genetic counseling, application of genetic counseling.

1. GENETIC
COUNSELIN
G
Ms. Manisha Thakur
Lecturer
Child Health Nursing

2. Introduction
 In response to increasing
knowledge of the genetics in
health and disease, Reed
proposed the term “genetic
counseling in 1947.
 Genetic counseling is offered to
people with genetic or inherited
diseases and their families or
individuals (often children with
birth defects) who are suspected
of having a genetic condition.
 These services help families and
their health care provider to take

3. Definition
 Genetic counseling is a communication process
which deals with the human problems associated
with the occurrence or the risk of occurrence of a
genetic disorder in the family.
 Genetic counseling is the process y which patients
or relatives, at risk of an inherited disorder, are
advised of the consequences and nature of the
disorder, the probability of transmitting it and options
open to them in management and family planning in
order to prevent, avoid and ameliorate it.

4. Purposes of genetic
counseling
1. To tell the medical facts, including diagnosis, the
probable course of disorder and available
management.
2. To explain the pattern of inheritance and risk of
having certain disease.
3. To understand the options for dealing with the risk
occurrence.
4. To choose course of action which seems
appropriate for them.
5. To make best possible adjustment to the disorder
in an affected members and or the risk of

5. Indication of genetic
counseling
 If a standard prenatal screening test (such as α
fetoprotein test) yields an abnormal result.
 An amniocentesis yields an unexpected results (such
as chromosomal defect in the unborn baby).
 Either parent or close relative has an in heritance
disease or birth defect, either parents already has
children with birth defect or genetic disorders.
 The mother has had two or more miscarriage or a
baby dies in infancy.
 The mother is 35yrs of age or over.
 The partner is blood relatives.

6. Beneficiaries of genetic
counseling
 People who have genetic conditions or birth
defects.
 Parent who have child with birth defects or
genetic conditions.
 Parent who have child with developmental
delay, mental retardation or other problem
with growth and development.
 Women who have had three or more
miscarriages or infertility for unknown cause.

7.  People concerned they may have inherited
tendency to develop cancer.
 People concerned they may have inherited
tendency to develop neurological conditions such
as Huntington disease.
 A person whose doctor or health care provider has
recommended a genetic evaluation or genetic
testing.
 Pregnant women or couples considering having
child in which:
1. Mother is 35 or more year old.
2. Consanguineous marriage.
3. Testing during pregnancy confirmed that their baby
may have genetic disease
4. Family history of genetic diseases, mental
retardation and birth defects.

8. Phases of genetic counseling
Assessment phase
Diagnostic phase
Analysis phase
Communication phase
Referral and support phase

9.  This is primary beginning phase of counseling in
which following tasks are accomplished:
1. Initial interview with counselee and family for
preparation of counselee for genetic counseling.
2. Collect family history and relevant history.
3. Consider potential diagnosis based on history.
Assessment phase

10. 1. Prepare and analyze pedigree.

11. Chromosomal
 The goal is to make diagnosis of a particular
genetic condition or syndrome. This is commonly
the case when a child is born with multiple defect
or problems.
 Confirmatory testing is done:
1. Chromosomal analysis
2. Biochemical test
3. X ray
4. Biopsy
5. Molecular DNA testing
Diagnostic phase

12.  This phase include following tasks:
1. Literature search and review of information.
2. Consultation with other experts.
3. Compiling of information and determination
of recurrence risk.
Analysis phase

13.  This phase include:
1. Communication of the results and risk to the
counselee and to the family.
2. Discussion of natural history of disorder, current
treatment options.
3. Review of questions.
4. Assess the counselees understanding about facts
and relevant hereditary pattern, diagnostic and
management option for disorder.
5. All explanation should be culturally appropriate.
Communication phase

14.  Refer the individual to genetic specialist for
further interventions, for e.g. referral for
prenatal diagnosis or treatment modalities for
different disorders.
 Support decisions made by counselee.
 Provide psychological support.
 Follow up and evaluation.
Referral and support
phase

15. Applications of genetic
counseling
Prenatal genetic counseling
Pediatric genetic counseling
Adult genetic counseling
Cancer genetic counseling

16. 1. Prenatal genetic counseling
1. If a woman is of age 35 or older and pregnant,
then there is an increased chance that her
fetus may have a change in the number of
chromosomes present. Changes in
chromosome number may lead to mental
retardation and birth defects.
2. Prenatal tests that are offered during genetic
counseling include
 Level II Ultrasound
 The maternal serum AFP
 Chorionic Villus sampling (CVS)
 Amniocentesis

17. 2. Pediatric genetic
counseling
Families or pediatricians seek genetic counseling
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. A
common type of mental retardation in males for
which genetic testing is available is fragile X-
syndrome.

18. 3. 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 begins exhibiting symptoms of an inherited
condition, or when there is a new diagnosis of
someone with an adult-onset disorder in the
family.
 In addition, the birth of a child with obvious
features of a genetic disease leads to diagnosis of
a parent who is more mildly affected.
 Genetic counseling for adults may lead to the
consideration of presymptomatic genetic testing.

19. 4. Cancer genetic counceling
 A 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.
 A genetic counselor is able to discuss the
chances that the cancer in the family is related to
a dominantly inherited gene. The counselor can
also discuss the option of testing for the breast
and ovarian cancer genes

20. Role of nurse in genetic
counselling
 Receive the client and family and make them
comfortable in assessment room for genetic
counseling.
 Obtain prenatal, family, other histories from individual
and family.
 Conduct primary physical examination and collect
other relevant information.
 Prepare and analyze pedigree, to establish
information about hereditary pattern.
 Provide psychological support to individual and family
throughout the counseling.

21. Cont..
 Obtain informed consent.
 Encourage family to ask questions related to
genetic testing, treatment modalities and
inheritance of disease pattern.
 Establish a plan of care with the family and
coordinate care with other health care
professionals.
 Respects the decision making of the individual or
couple.
 Maintain privacy and confidentiality to all the
information related to individual.
 Provide referral guidance to individual for genetic
specialist for further investigation.