Genetic counseling is a process that provides information about inherited disorders and allows people to make informed choices. It involves taking a family history, constructing a pedigree chart to assess risk, educating people about genetic disorders and inheritance patterns, and offering psychosocial support. The goals are to provide accurate information to reassure or guide reproductive decisions, and connect people to resources. Both counselors and clients see the interpersonal connection and comprehensive information provision as key outcomes.

1. GENETIC
COUNSELLING
PRESENTER
Ms. SHILPA JOSHI

2. • The term genetics was introduced by Bateson in 1906.It has
been derived from Greek word ‘gene’ which means ‘to
become’ or ‘to grow into.
• .Gregor John Mendel is known as “Father of Genetics”.

3. • Genetics is branch of medical science which is concerned with the
transmission of characteristics from parents to offsprings.
• Genetic: Branch of science which studies genes and the pattern of
inheritance of particular diseases.
• Inheritance: The passing of familial elements from one generation
to the next.

4. • Gene : basic unit of genetic information, functional subunit of DNA
and contains instructions for making proteins.
• Chromosomes : storage unit of genes. A structure within cell which
delivers genetic material as DNA.
• DNA : is nucleic acid which contains genetic instructions and encode
genetic information.
• Genome : collection of genetic information.

5. • Carrier : individual who appers normal but has one copy of mutant
gene.
• Genotype : genetic makeup of organism (TT, Tt, tt)
• Phenotype : what is physically observed. (tall, short)
• Heterozygous : two different alleles.

6. • Dominant traits : characteristics that when present is always
expressed.
• Recessive traits : masked by dominant trait; only appears if there are
two copies.
• Allele : each alternative for a gene occurs in pairs.

7. • The American society of human Genetic 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 to make ”

8. • Counseling is a process of communicating between two or more
persons who meet to solve a problem, resource a curse or take decision
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 values.

9. • Genetic counseling process follows these basic characteristic of a
counseling process. It is undertaken with families confronted with
genetic and inherited disorders.
• Sheldon Reed proposed the terminology “GENETIC COUNSELING
in 1947.

10. • PURPOSE
• Provide concrete, accurate information about inherited disorders.
• Reassure people who are concerned that their child may inherit a
particular disorder that the disorder will not occur.
• Allow people who are affected by inherited disease to make
informed choice about future reproduction.

11. • Educate people about inherited disorder and the process of
inheritance.
• Offer support by skilled health care professionals to people who
are affected by genetic disorders.

12. INDICATIONS -
• If a standard prenatal screening test (such as α fetoprotein test) yields
an abnormal result.
• An amniocentesis yields 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.

13. STEPS OF GENETIC COUNSELLING
• 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
• ⚫ Obstetric history 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.

14. • 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.

15. • 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.

17. • 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.
• 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

19. • TYPES OF GENETIC COUNSELLING :-
• 1. Prospective :- it covers a number of recessive defects. It identifies the
individuals for any particular defect by screening , eg.- sickle cell anemia &
thalassemia .
• 2. Retrospective;- this can be done after contraception, pregnancy
termination and sterilization. When blood relatives marry each other , there
is an increased risk in the offsprings of the traits controlled by recessive
genes.

20. APPLICATIONS OF GENETIC COUNSELLING -
Genetic counselors work with people concerned about the risk of an
inherited disease or condition.
These people represent several different populations.
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.

21. • Changes in chromosome number may lead to mental retardation and
birth defects.
• Prenatal tests that are offered during genetic counseling include
• ⚫ Level II Ultrasound
• ⚫ The maternal serum AFP
• ⚫ Chorionic Villus sampling (CVS)
• ⚫ Amniocentesis

22. • 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.

23. • 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.

24. • 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.

25. • ROLE OF A NURSE IN GENETIC COUNSELLING -
• ⚫ Guiding a woman or couple through prenatal diagnosis.
• Clear up misconceptions and allay feelings of guilt.
• ⚫ Helping parents make decision in regard to abnormal prenatal diagnostic
results.
• Remain non-judgemental.
• ⚫ Assisting parents who have had a child with a birth defect to locate needed
service and support.
• Check with the government policy for information and resources regarding neonates
testing required , state regulations on genetic testing and research.
• ⚫ Providing support to help the family deal with the emotional impact of a birth
defect.

26. • ⚫ Coordinative services of other professionals, such as social
workers, physical and occupational therapist, psychologist & dietician.
• Be aware of associated professional responsibilities , including
informed consent , documentation in medical records, medical
releases and individual privacy of information.

27. • Goals, benefits, and outcomes of genetic counseling: client and genetic
counselor assessment
• DOI: 10.1002/1096-8628(20000918)94:3<189::aid-ajmg3>3.0.co;2-e
• Source:- Pubmed
• Abstract
• Most studies of outcomes of genetic counseling have focused on client
knowledge, reproductive plans and behavior, or satisfaction. Other measures
of the "value" of genetic counseling are needed to guide research assessing
the impact of genetic counseling on individuals and populations, as well as
to improve the process of providing care. To obtain input from providers, we
conducted telephone interviews with six experienced genetic counselors, and
then we held a focus group with 10 additional genetic counselors from a
variety of practice settings. To obtain input from consumers, telephone
interviews were also conducted with 19 past clients of these participating
counselors. We found that counselor goals focus on meeting clients' needs,
usually educating and providing psychosocial support.

28. Clients often had few goals going into a session because they were
unaware of what would be discussed or how the session would be
structured. They usually did not expect to receive "counseling," and
when they did, it was a welcome surprise. Both clients and counselors
commented that a positive interpersonal interaction and "connecting"
are primary measures of success. All clients appreciated the large
amount of time spent with the counselor, and the manner (clear,
comprehensive, and unhurried) of providing information. Many clients
said that genetic counseling resulted in improved communication with
their partners and other family members. Clients view the counselor as
an "expert" and value the counselor as an on-going resource for both
information and support. These "outcomes" of genetic counseling need
to be assessed, and new measures must be developed.

29. • BIBLIOGRAPHY
• -Brar Navdeep kaur “Advance Nursing Practice’’1st edition 2015, Jaypee
Publications, page no. 253-259.
• -Keya Lahiri “Clinical genetics” 1st edition 2005, Jaypee Publications, page
no: 41, 104-106.
• -Suresh kumar Sharma,”Human genetics in nursing” 1st edition 2007, Jaypee
Publication, page no: 106-109.
• -Ladewig, “Maternal newborn nursing”5th edition, Benjamin Publication
Company, page no: 167-175.
• -Elizabeth M. Variorolis ”Foundation of psychiatrics mental health nursing”
4th edition 2002, Saunders Publication, page no:210-211.
• -http://www.medindia.net/patient/patient info/genetic counseling
http://www.kidshealth.org/pregnancy/newborn/medical problems/genetic
counseling.

30. “Genetics loads the gun, but lifestyle
pulls the trigger.”
• THANK YOU..!