GENETIC COUNSELLING

Counseling Webster’s Dictionary Counseling is consultation, mutual interchange of opinions,

deliberating together.”

Genetics

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.

Brief history George Mendel (the father of genetic)

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.
Gene – Basic unit of genetic information. Genes determine the inherited characters. It is the
functional subunit of DNA and contain instruction for making protein.  Chromosomes –
storage units of genes. A structure within the cell that deliver the genetic material as DNA. 
DNA - is a nucleic acid that contains the genetic instructions specifying the biological
development of all cellular forms of life Molecule encodes the genetic information. 
Genome – the collection of genetic information 
1. 8. Genetic pedigree: a diagrammatic representation of diseases history in a family up
to 3rd degree relative. 3/5/2014 8
2. 9. 3/5/2014 9
3. 10. Pattern of inheritance  Human cell contain 23 pairs of chromosomes. 22 pairs

autosomal and one pair sex chromosomes.  23chromosomes inherited from mother
and 23 chromosomes from father.  Sex chromosomes: XX for female and XY for
male. 3/5/2014 10
4. 11. Pattern of inheritance  Mutant gene: means abnormal gene which can not

perform its function in proper way.  Affected individual: individual who is known to
has disease.  Carrier individual: individual who appear normal but has one copy of
mutant gene. 3/5/2014 11
5. 12. Genetics DEFINITION: Genetics is defined as a branch of medical science
sciences which concerned with the transmission of characteristics from parents to
offspring. 3/5/2014 12
6. 13. Genetic counseling 3/5/2014 13
7. 14. Genetic counseling Genetic counseling is a process by which patients or relatives,
at risk of an inherited disorder, are advised of the consequences and nature of the
disorder, the probability of developing or transmitting it and the options open to them
in management and family planning in order to prevent or avoid it. 3/5/2014 14
8. 15.  Genetic counseling is the process of helping people understand and adapt to the
medical, psychological and familial implications of genetic contributions to disease.
This process integrates the interpretation of family and medical histories to assess the
chance of disease occurrence or recurrence, education about inheritance, testing,
management, prevention, resources and research, and counseling to promote informed
choices and adaptation to the risk or condition” (NSGC, 2005).National Society of
Genetic Counselors 3/5/2014 15
9. 16. Genetic counselling Providing of information regard health and support by a

specialist doctor “a geneticist” to client (a person who perform genetic test).  This
complex process can be seen from diagnostic (the actual estimation of risk) and
supportive aspects  Genetic counseling  3/5/2014 16
10. 17. Aims of genetic counseling  The genetic counseling aims to provide the family
with complete and accurate information about genetic disorders. 1. Promoting
informed decisions by involved family members Clarifying the family‟s options
available treatment and prognosis Explaining alternatives to reduce the risk of genetic
disorders Decreasing the incidence of genetic disorders Reducing the impact of the
disorders 2. 3. 4. 5. 3/5/2014 17
11. 18. Function of genetic counselling session Provide information  Available solution

 Help person to understand and cope with his condition  Testing the risk of
recurrence  3/5/2014 18
12. 19. INDICATIONS FOR GENETIC COUNCELING 1. Hereditary disease in a

patient or family  2. Birth defects  3. Mental retardation  4. Advanced maternal

age  5. Early onset of cancer in family  6. Miscarriages  7. Malformations  8.
Tendency to develop a neurologic conditions  3/5/2014 19
13. 20. INFORMATION CONVEYED IN GENETIC COUNCELING: 1. Magnitude of

risk of occurrence or recurrence  2. Impact of disease on patient and family  3.

Modification of disease impact or risk  4. Anticipated future development 
3/5/2014 20
14. 21. 3/5/2014 21
15. 22. STEPS OF GENETIC COUNCELLING:  Diagnosis  Prognosis  Treatment
3/5/2014 22
16. 23. WHO ARE GENETIC COUNSELLERS ?  Postgraduates health professionals

with a graduate diploma or Master's in genetic counseling.  Experience in the areas

of medical genetics and counseling.  Identify family at risk, investigates the
problems present in the family, interpret information about the disorder, analyze
inheritance patterns and, risk of reoccurrence & review available option with the
family.  Serves as educators and resource people for other health care professional
sand for general public. 3/5/2014 23
17. 24. work in administration capacities.  A team of physician ,nurse and social worker

who undergone special training in genetic counseling  Many engage themselves in

research activities related to the field of medical genetics & genetic counseling 
3/5/2014 24
18. 25. WHAT IS THE ROLE OF GENETIC COUNSELLING ?  Genetic Counselors
provide genetic information. It is their counselling skills, including their ability to
empathically connect with their patients that leads to demands for their skills.  Good
Genetic Counselor have many strengths. They make their clients‟ best interest their
foremost priority and are keenly attuned to complex professional and ethical
challenges. 3/5/2014 25
19. 26.  Genetic Counselor use non-directive counseling method to provide the best

service to those who need them  To develop a mutual relationship with the client, to
understand her or him, to relieve any psychological distress, promote a sense of
control, and help find solution to specific problems. 3/5/2014 26
20. 27.  Assess the client‟s strengths, values and needs; provide an individualization and
flexible counseling style to suite each client‟s need and agenda; develop an awareness
of self; and attend to their own inner life. 3/5/2014 27
21. 28. The counselor tends to give advice, make decision, be coercive, persuasive,

influencing, directing and controlling. The counselor communicates, enables,

explores, encourages, informs, offers choices, discusses ,promote autonomy ,is
empathic, non-judgmental, and respectful of the client. 3/5/2014 28
22. 29. nurse as genetic counselor Important role in follow up, clarifying information,

providing continuous support to the grieving process as appropriate  Helps to

 decrease the risk of transmitting the disorder  Discus along with genetic counselor
and family members on alternative arrangement as adoption, Artificial insemination,
surrogate pregnancy, prenatal diagnosis with selective abortion, prenatal treatment
,curative treatment ,genetherapy and fetal surgery  3/5/2014 29
23. 30. PRE-REQUISITES OF GENETIC COUNSELLING IS        Detailed
family history. Accurate diagnosis. Understanding the medical aspect of the disorder
(etiology, natural history, treatment, prognosis, burden ). Understanding the
inheritance pattern ( recurrence risk Understanding the psycho-social impact of the
information. Training / experience in counselling techniques. Understanding the
concepts of health / disease / healthcare in the appropriate cultures. 3/5/2014 30
24. 31. Genetic counselling ethics  Respect the right of individual  Non- directive

approach  Keep privacy of individual and family  Maintain the communication

between counsellor and his client 3/5/2014 31
25. 32. IN SHORT GENETIC COUNSELLING IS Determine the facts :  Diagnosis,
etiology, and inheritance patterns, prognosis, natural history, treatment and
reoccurrence of risk. Transmitting the information :  To those requesting it in a
sensitive, culturally appropriate, understandable way. Supporting the decision : 
Supporting the decision making process of the couple. Genetic counselling :  It is
non-directive. 3/5/2014 32
26. 33. Genetic screening Definition: A search in apparently normal population for
individual with abnormal genes which increase their risk or their offspring of being
affected by a disease. 3/5/2014 33
27. 34. Types of genetic screening 1. Carrier identification 2. Prenatal diagnosis 3.
Newborn screening 4. Forensic screening ( paternity test) 3/5/2014 34
28. 35. conclusion  Many diseases have genetic root  The genetic screening is an

essential issue in most stages of the life.  Genetic counselling aim is to bridge the
gap for people between genetic field complexity and their life. 3/5/2014 35
29. 36. Any question ? 3/5/2014 36