Genetics: genetics is a branch of biology concerned with the
study of genes, genetic variations, and heredity in living
Counseling: counseling is a process of communicating
between two or more persons who meet to solve a problem,
resource a curse or take decisions on various matters. It is not
a one way process where in the counseling tells the client
what to do nor it is a forum for presentation of the
3. Genetic counseling:
Genetic counseling is the process of advising individuals and
families affected by or at risk of genetic disorders to help
them understand and adapt to the medical, psychological and
familial implications of genetic contributions to disease.
Sheldon Reed proposed the terminology “Genetic
Counseling” in 1947.
The American Society of Human Genetics define Genetic
counseling as a communication process, which deals with
human problems associated with the occurrence or the risk of
occurrence of a genetic disorder in a family.
Smith (1955) defines counseling as “a process in which the
counselor assists the counselee to make interpretations of
facts relating to a choice, plan or adjustments which he needs
5. ----Genetic counseling is a communication process by which
personal genetic risk information is translated into practical
information for families.
-----it is defined as a process in which patients or their relatives
at the risk of a genetic disorder are made aware of the
consequences of the disorder, its transmission and the ways by
which this can be prevented or mitigated,
6. PURPOSE OF GENETIC COUNSELING
Consanguinity Exposure during pregnancy
7. 1. PEDIGREE :
Pedigrees are family trees which show the parents and offspring across
generations, as well as who possessed particular traits. Pedigrees of individual
families are used by genetic counselors, to aid them in providing information to
families who may be at risk for various genetic conditions.
8. 2. Ethnicity:
In obtaining a family history, a genetic counselor asks about a
person’s ethnicity or ancestral origin. There are some ethnic
groups that have a higher chance of being carriers of some
genetic disease or abnormalities. For example, the chance that
an African American is a carrier of a gene for sickle cell
disease is one in ten.
9. 3. Consanguinity
Another question counselor 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 conditions that are in a recessive pattern.
10. 4. Exposure during pregnancy:
Counselor will ask about the pregnancy history. If a women
has taken medications or has had exposure to a potentially
harmful substance from the environment such as chemical
and toxins etc. , the genetic counselor can discuss about
possibility of adverse effects
If a standard prenatal screening test (such as α fetoprotein test) yields an
An amniocentesis yields n 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
12. STEPS OF GENETIC COUNSELING
To complete an accurate diagnosis the following procedure should be followed:
A proper record of the history of the patient is necessary:
This includes both present and relevant past history
Family history includes siblings and other relatives also.
Kindly note if there is any other person in the family with a similar problem
Obstetric history of includes exposure to teratogens (drugs, X-rays) in pregnancy.
History 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
13. Pedigree Charting
At a glance this offers in a concise manner the state of disorder in
a family. Constructing a pedigree with proper interrogation though
time consuming, is ultimately rewarding. If forms an indispensable
step towards counseling
Estimation of Risk:
It forms one of the most important aspect of genetic counseling.
It is often called recurrence risk. To estimate it one requires to take
into account following points
Mode of inheritance
Analysis of pedigree or family tree
Results of various tests
14. Transmitting Information
After completing the diagnosis, pedigree charging and estimation of risk
the next most important step is of communicating this information to the
This important functioning involves various factors such as
Psychology of the patient.
The Emotional stress under prevailing circumstances.
Attitude of family members towards the patients.
Educational, social and financial background of the family.
Gaining confidence of consultants in subsequence meetings during follow
Ethical, moral and legal implications involved in the process.
Above all, communication skills to transmit facts in an effective manner i.e.
making them more acceptable and palatable.
In genetics, “Treatment” implies a very limited scope. It
naturally aims for prevention rather than cure. In fact for most
of the genetic disorders cure is unknown. Treatment is
therefore directed towards minimizing the damage by early
detection and preventing further irreversible damage. For
example n PKU, i.e. phenylketonuria. This disorder is
characterized by a deficiency of phenylalanine hydroxylase
enzyme, which is necessary for the conversion of
phenylalanine to tyrosine.
16. TYPES OF GENETIC COUNSELLING
Prospective: wider application to cover a number of recessive
defects. It identifies the individuals for any particular defect by
For example: sickle cell anemia which can be prevented.
Retrospective: this can be done after contraception,
pregnancy termination and sterilization.
17. APPLICATIONS OF GENETIC COUNSELING
Genetic counselors work with people concerned about the risk of
an inherited disease or condition. These people represent several
Prenatal Genetic Counseling
There are several different reasons a person or couple may seek
prenatal genetic counseling. 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
18. Prenatal tests
Level II Ultrasound
The maternal serum AFP
Chorionic Villus sampling (CVS)
19. 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.
20. 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
21. Cancer Genetic Counseling
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.
While most cancer is not inherited, there are some families in which a
dominant gene is present and causing the disease
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
22. CODE OF ETHICS
The National Society of Genetic Counselors has created a
code of ethics to guide genetic counselors in caring of people.
Non- directive counseling
24. ROLE OF A NURSE IN GENETIC
Guiding a women or couple through prenatal diagnosis.
Helping parents make decision in regard to abnormal prenatal diagnostic
Assisting parents who have had a child with a birth defect to locate
needed service and support.
Providing support to help the family deal with the emotional impact of a
Coordinative services of other professionals, such as social workers,
physical and occupational therapist, psychologist & dietician.
Khan yaseen, ‘A Concise textbook of Advanced Nursing
Practice’, 1st edition, EMMESS medical publishers, page no: