NCM 109

Genetics and
Genetic Counselling Week 1
MARLON C. SOLIMAN, PhDN, MAN, MHA, RN, CHA, CLSSYB
Nursing Services Director, Perpetual Help Medical Center-Biñan
Adjunct Asst Professor 4, College of Nursing, UPH-Dr. Jose G. Tamayo Medical University

Excerpted from: Dr. Virginia Jupiter

 CONTENT
❑ What is genetic counseling?
❑ Purpose
❑ Types of genetic counseling
❑ Genetic counselor
❑ When to refer to a genetic counselor?
❑ Genetic Screening & Genetic Test
❑ Diagnosis
❑ Genetic counselling today….
 Genetic Counselling
• A communication process, which deals with human
problems associated with the occurrence or the risk
of occurrence of a genetic disorder in a family
(American Society of Human Genetic).
• Counseling is a process in
which the counselor assists
the counselee to make
interpretations of facts relating
to a choice, plan or
adjustments which he needs to
make (Smith, 1995)
 Purpose
1. Provide concrete, accurate information about
inherited disorders.
2. Reassure people who are concerned that their child
may inherit a particular disorder that the disorder
will not occur.
3. Allow people who are affected by inherited disease
to make informed choice about future reproduction.
4. Educate people about inherited disorder and the
process of inheritance.
5. Offer support by skilled health care professionals to
people who are affected by genetic disorders.
 TYPES OF GENETIC
COUNSELING
• Two types of genetic counseling

1. Retrospective
2. Prospective
 TYPES OF GENETIC
COUNSELING
1. PROSPECTIVE
GENETIC COUNSELING
This allows for the prevention of disease.
This approach requires:
• Identifying heterozygous individuals for any
particular defect by screening.
• Explaining to them the risk of their having
affected children if they marry another
heterozygote for the same gene.
• If heterozygous marriage can be
prevented or reduced, the prospects of
giving birth to affected children will diminish.
Eg: Sickle cell anemia Thalassemia
 TYPES OF GENETIC
COUNSELING
2. RETROSPECTIVE GENETIC
• Most genetic counseling at present is retrospective i.e the hereditary disorder
has already occurred within the family.
Ex : Mental retardation
Inborn errors of metabolism
Psychiatric illness
• The method which could be suggested under retrospective genetic
counselling:
1. Contraception
2. Pregnancy termination
3. Sterilization
 INDICATIONS
1. If a standard prenatal screening test
(such as α fetoprotein test) yields an
abnormal result.
2. An amniocentesis yields n
unexpected results (such as
chromosomal defect in the unborn
baby).
3. Either parent or close relative has
an in-heritance disease or birth
defect, either parents already has
children with birth defect or genetic
disorders.
 INDICATIONS
4. The mother has had
two or more
miscarriage, or a baby
dies in infancy.
5. The mother is 35yrs of
age or over.
6. The partner is blood
relatives.
 ❖ An accurate diagnosis of disorder.
✔ History:
Steps in Present and relevant past hx
Genetic Family hx includes siblings and other relatives
also. Kindly note if there is any other person in
Counseling the family with a similar problem
Obstetric hx of includes exposure to teratogens
(drugs, X-rays) in pregnancy. Hx of abortion or
still birth if any, should be recorded
Enquiry should be made about consanguinity as
it increases the risk especially in autosomal
recessive disorders
 ❖ Pedigree Charting
✔ Offers in a concise manner the state of disorder in
a family.
Steps in ✔ Forms an indispensable step towards counseling
Genetic
❖ Estimation of Risk:
Counseling ✔ It forms one of the most important aspect of
genetic counseling (often called recurrence risk).
To estimate, it requires to consider following
points:
Mode of inheritance
Analysis of pedigree or family tree
Results of various tests
 ❖ Transmitting Information (communicating information to the
consultants)
✔ This important functioning involves various factors such as:
Steps in Psychology of the patient.

Genetic Emotional stress under prevailing circumstances.

Attitude of family members towards the patients.
Counseling Educational, social and financial background of the family.
Gaining confidence of consultants in subsequence meetings
during follow up.
Ethical, moral and legal implications involved in the process.
Communication skills to transmit facts in an effective manner i.e.
making them more acceptable
 ❖ In genetics, “Treatment” implies a very
limited scope.
❖ Aims for prevention rather then cure
❖ Most of the genetic disorders cure is
Management unknown.
Treatment is therefore directed towards
minimizing the damage by early detection
and preventing further irreversible damage.
PKU (phenylketonuria) characterized by a
deficiency of phenylalanine hydroxylase
enzyme, which is necessary for the
conversion of phenylalanine to tyrosine
 GENETIC COUNSELOR
Genetic counselors are
professionals trained in the fields
of genetics and psychosocial
counseling.
They act as advocates for families
affected by genetic disorders.
They help patients understand the
concepts of heredity.
Assist them in planning for
treatment of affected individuals
as well as providing options for
What does a genetic counselor
do?
Review family and medical
history.
Figure out if the patient or their
family members are at risk for
disease.
Explain how genetic conditions
are passed down
through families.
Find and give information about
genetic conditions.
What does a genetic counselor
do?
Provide information about
testing options and help
patients decide whether they
want testing.
Offer guidance to help the
patient make informed
choices or life plans.
Help patients find referrals to
medical specialists,
advocacy, support networks,
and other resources.
 When to refer to a Genetic Specialist?

FAMILY HISTORY
▪ One or more members with
mental retardation,
developmental disability, an
inherited disorder, or a birth
defect.
▪ One or more members with
early deaths due to known or
unknown medical conditions
▪ One or more members with
adult-onset health conditions
such as cardiovascular disease,
 When to refer to a Genetic Specialist?

DELAYED GROWTH
AND DEVELOPMENT

▪ Those who have or are

concerned that their child
has developmental delays
that may be due to an
inherited disorder or birth
defect.
 When to refer to a Genetic Specialist?

REPRODUCTIVE ISSUES
▪ Women who have experienced multiple pregnancy losses
or babies who died in infancy.
▪ People concerned that their jobs, lifestyles or medical
history may pose a risk to the outcome of a pregnancy.
Common causes of concern include exposure to
radiations, medications, illegal drugs, chemicals or
infections.
▪ Couples who are first cousins or other close blood
relatives.
▪ Women who are pregnant at the age of 35 or older.
 When to refer to a Genetic Specialist?
ENETIC SCREENING
• It is the newest and most sophisticated technique used to test for
genetic disorders.
• Genetic screening is often used to detect faulty or
abnormal genes in an organism.
• Can detect some genes related to an increased risk of cancer.
• Can detect some genes known to cause genetic disorders.
• GENETIC TEST - The analysis of chromosomes (DNA), proteins,
and certain metabolites in order to detect heritable disease-related
genotypes, mutations, phenotypes, or karyotype for clinical
purposes.
 • There are several different reasons a
Prenatal person or couple may seek prenatal
genetic counseling.
Genetic • If a woman is of age 35 or older and
Counseling 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
INDICATIONS FOR PRENATAL DIAGNOSIS

There are three purposes of prenatal

diagnosis:
to enable timely medical or surgical treatment of a
condition before or after birth.
to give the parents the chance to abort a fetus with
the diagnosed condition .
to give parents the chance to "prepare"
psychologically, socially, financially, and medically
for a baby with a health problem or disability, or for
the likelihood of a stillbirth.
THANK YOU!