Genetic counselling

2. ABHILASHI COLLEGE OF NURSING
TANDA
POWRE POINT PRESENETATION
ON
GANETIC COUNSELING
SUBMITTED TO SUBMITTED BY :
MRS.PALLVI MAM SHALINI SHARMA
ASSOCIATE PROFESSOR MSC1ST YEAFR
PEDIATRIC NURSING COMMUNITY HEALTH NURSING

3. Introduction
Genetics: genetics is a branch of biology concerned with the study of genes,
genetic variations, and heredity in living organism.
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 counselor’s value.

4. INTRODUCTION
• 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.

5. DEFINITION
• 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 to make.

6. PURPOSE:
• PURPOSE OF GENETIC COUNSELING
• pedigree Ethnicity Consanguinity
• Exposure during pregnancy purposes

7. PREDIGREE
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. ETHNICITY
2 . 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. Consanguinity :
3. 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. Exposure during pregnancy:
4. 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

11. INDICATIONS
• If a standard prenatal screening test (such as α
fetoprotein test) yields an abnormal result.
• 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

12. CONT.……
• The mother is 35yrs of age or over.
• The partner is blood relatives.

13. STEPS OF GENETIC COUNSELING
• To complete an accurate diagnosis the following procedure should be
followed:
• History: 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

14. CONT.……..
• 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

15. 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

16. Transmitting Information
• After completing the diagnosis, pedigree charging and estimation of risk
the next most important step is of communicating this information to the
consultants.
• 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.

17. CONT.…….
• Gaining confidence of consultants in subsequence
meetings during follow up.
• 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

18. Management
• 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.

19. APPLICATIONS OF GENETIC COUNSELING
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 defects

20. PARENTAL TESTS:
1. The maternal serum AFP
2. Chorionic Villus sampling (CVS)
3. Amniocentesis

21. 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

22. Adult 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
• Genetic counseling for adults may lead to the
consideration of presymptomatic genetic testing

23. 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.

24. CONT…….
• 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

25. ROLE OF A NURSE IN GENETIC
COUNSELING
1. Guiding a women or couple through prenatal
diagnosis.
2. Helping parents make decision in regard to
abnormal prenatal diagnostic results.
3. Assisting parents who have had a child with a birth
defect to locate needed service and support.

26. CONT.……..
1. Providing support to help the family deal with the
emotional impact of a birth defect.
2. Coordinative services of other professionals, such as
social workers, physical and occupational therapist,
psychologist & dietician.