GENETIC COUNSELLING

DEFINITION

• Genetic counseling is a communication process

whereby an individual or family obtains information
about a genetic condition, is helped to understand the
implications and significance of the condition, and is
given resources to help with coping and management
•  It is a continuous process involving lasting supportive
relationships between the family and the genetic
professional.
• Genetic counselors are master’s level–trained health-
care professionals who work closely with
pediatricians and pediatric subspecialists alike.
• Genetic counselors can be a source of information
about genetic conditions, risk assessment for disease,
and genetic testing.
• Although most of a genetic counselor’s job is patient
care and education, genetic counselors also serve as
resources to educate health professionals about
genetics.
 PURPOSES
• Inform and advice
 on the consequences and nature of the disorder.
The probability of developing or transmitting it.
Options available in managing and planning in order
to
prevent, avoid or ameliorate that defect.
• Genetic counselling has supportive as well as
diagnostic aspects.
• Provide family with complete and accurate
information about genetic disorders.
 GOALS

• Promoting informed decisions by involved family

members.
• Clarifying the family’s options , available treatments and
prognosis.
• Examining alternatives to reduce the risk of genetic
disorders.
• Decreasing the incidence of genetic disorder.
• Reducing the impact of the disorder.
 Principles To Be Followed For Effective
Counselling
• Genetic counselling must include an accurate
diagnosis and non directive counselling
• Provides information in a nonthreatening ,un biased
manner
• Reserves related decisions for the family.
• Counselling must be confidential and completely
truthful, upholding the family’s right to know what to
expect.
• It must be timed appropriately , preferably before
pregnancy.
 BENEFICIARIES

• Individuals and families with known hereditary conditions

or diseases thought to have a hereditary component
• Examples: Alzheimer's disease, cancer, cystic fibrosis,
diabetes, Down syndrome, hemophilia, Huntington’s
disease, Parkinson’s disease, Sickle Cell disease
• Anyone who is considering genetic testing
• Individuals and couples who are concerned with issues
related to pregnancy, such as birth defects, transmission of
genetic conditions, or effect of pregnancy on existing
genetic risk
• couples who have had multiple miscarriages
• couples who are related, such as first cousins
• healthcare providers who seek genetics consultations for
their patients
 Time To Seek Genetic Counselling

• In a paediatric scenario , genetic counselling can occur

• Before conception , (as a part of planned parenthood)
when one or both of the parents are carriers of a certain
trait such as sickle cell trait.
• During pregnancy when an abnormality is detected on an
ultrasound scan , especially when the female is older than
35 years.
• After the birth if a birth defect is seen.
• During childhood if the child has developmental delay.
 PROCESS OF GENETIC COUNSELLING

In general, a genetic counseling session aims to:

• Increase the family’s understanding of a genetic condition
• Discuss options regarding disease management and the
risks and benefits of further testing and other options
• Help the individual and family identify the psychosocial
tools required to cope with potential outcomes
• Reduce the family’s anxiety
 During the initial genetic counseling visit,
• The genetic counselor will determine why the
patient/family is seeking genetic counseling,
• identify what information they wish to obtain from the
session, collect and record a family medical history, and
• assess and record the medical and psychosocial history of
the patient.
• Prenatal genetic counselling is usually given by a
counsellor at a high risk or specialty prenatal clinic
that offers prenatal diagnosis.
• Paediatric and adult genetic counselling is given at a
genetics centre by a genetic nurse or a genetic
counsellor.
• In certain places premarital genetic testing and
counselling is advised. (e.g. .West Africa for sickle cell
anaemia) .
• In certain communities, premarital genetic testing is
mandatory and a genetic requirement. (e.g.. Maine ).
• A team approach that involves physicians ,nurses and
social workers is essential.
• A pre-testing session are the clinical presentation of
the condition(s) the patient may be at risk for, pattern
of genetic inheritance of the condition, chance of
recurrence, available testing procedures and test
limitations, reproductive options, and follow-up
procedures, if needed.
• General questions relating to suggested treatment or
therapy are also addressed.
• If genetic testing performed, the genetic counselor
often acts as the point person to communicate the
results. 
• The post-test session often focuses on helping families
cope with the emotional, psychological, medical, social,
and economic consequences of the test results.
• In particular, psychological issues such as denial, anxiety,
anger, grief, guilt, or blame are addressed, and,
• when necessary, referrals for in-depth psychosocial
counseling are offered.
• Information about community resources and support
groups can be provided to the patient/family.
• If the genetic test is positive, testing may be considered for
additional relatives of the individual.
• Genetic counseling referrals for other family members for
risk assessment may be discussed
• To decrease the risk of transmitting the disorder, a genetic
counsellor can discuss with the family an alternative
arrangement such as adoption , artificial insemination,
surrogate pregnancy, prenatal diagnosis with selective
abortion or prenatal treatment, curative treatment with
gene splicing or fetal surgery.

• The nurse plays an important role in follow up ,clarifying

information,providing continuous support to the family in
the grieving process as appropriate.
• At the conclusion of the final genetic counseling session,
the patient may receive a written summary of the major
topics discussed.
• The summary is often provided in the form of a letter,
which serves as a permanent record of the information
discussed and can include additional information that
became available after the final counseling session.
• The patient may choose to share the letter with other
family members or healthcare providers.
 IMPORTANCE OF GENETIC COUNSELLING

• Genetic counselors help identify families at possible risk of a

genetic condition by gathering and analyzing family history and
inheritance patterns and calculating chances of recurrence.
• They provide information about genetic testing and related
procedures.
• They are trained to present complex and difficult-to-
comprehend information about genetic risks, testing, and
diagnosis to families and patients.
• Genetic counselors can help families understand the
significance of genetic conditions in relation to cultural,
personal, and familial contexts.
• They also discuss available options and can provide
referrals to educational services, advocacy and support
groups, other health professionals, and community or state
services.
• Genetic counselors can serve as a central resource of
information about genetic conditions for other healthcare
professionals, patients, and the general public.
 NURSES ROLE

• A nurse who opts to be genetic counselor undergoes

training.
• Obtain a detailed family history and construct a
pedigree (family history diagram)
• Assess and analyze hereditary and nonhereditary
disease risk factors
• Identify potential genetic conditions or genetic
predisposition to disease
• Provide genetic information and psychosocial support to
individuals and families
• Provide nursing care for patients and families at risk for or
affected by diseases with a genetic component

• Provide genetic counseling

(Advanced Practice Nurses)

• Facilitate genetic testing and interpret genetic test results

and laboratory reports
(Advanced Practice Nurses) 
• Paediatric nurse who work as a genetic counsellor
work as a member of a health care team ,
providing information and support to families who
have a member with birth defect or genetic disorder
and families with a risk for a variety of inherited
conditions.
• They identify families at risk,
• investigate problems present in the family ,
• interpret information about disorder,
• analyse inheritance patterns and
• risk of recurrences and
• review available options with the family
• Provide supportive counselling to families.
• Serve as patient advocates.
• Refer individuals and families to community or state
support services.
• They also serve as educators and resource people for other
health care professionals
THANK YOU