genetic counseling gnm classs
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Genetic
counseling
Presentation by;
Sindhu Sebastian
Lecturer
FMCON
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Counseling
Websters Dictionary
Counseling is consultation, mutual
interchange of opinions,deliberating together.
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Genetics
The term genetics was introduced byBateson in 1906.It has been derivedfrom Greek word gene which means
to become or to grow into.
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Brief history
George Mendel
( the father of genetic)
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General concept
Genetic: Branch of science which studiesgenes and the pattern of inheritance ofparticular diseases
Inheritance: The passing of familialelements from one generation to the next.
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Gene Basic unit of geneticinformation. Genes determine theinherited characters. It is the
functional subunit of DNA andcontain instruction for makingprotein.
Chromosomes storage units ofgenes. A structure within the cell
that deliver the genetic material asDNA.
DNA - is a nucleic acid thatcontains the genetic instructionsspecifying the biologicaldevelopment of all cellular formsof life Molecule encodes thegenetic information.
Genome the collection ofgenetic information
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Genetic pedigree: a diagrammatic
representation of diseases history in afamily up to 3rd degree relative.
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Pattern of inheritance
Human cell contain 23pairs of chromosomes. 22pairs autosomal and onepair sex chromosomes.
23chromosomes inheritedfrom mother and 23chromosomes from father.
Sex chromosomes: XX forfemale and XY for male.
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Pattern of inheritance
Mutant gene:meansabnormal gene which cannot perform its functionin proper way.
Affected individual:individual who is knownto has disease.
Carrier individual:individual who appearnormal but has one copyof mutant gene.
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Genetics
DEFINITION:
Genetics is defined as a branch
of medical science scienceswhich concerned with the
transmission of characteristicsfrom parents to offspring.
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Genetic counseling
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Genetic counseling
Genetic counselingis a process bywhich patients or relatives, at riskof an inherited disorder, areadvised of the consequences andnature of the disorder, theprobability of developing or
transmitting it and the options opento them in management and familyplanning in order to prevent or
avoid it. 4/17/2012 14
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Genetic counseling is the process ofhelping people understand and adapt tothe medical, psychological and familial
implications of genetic contributions todisease. This process integrates theinterpretation of family and medicalhistories to assess the chance of diseaseoccurrence or recurrence, educationabout inheritance, testing, management,prevention, resources and research, and
counseling to promote informed choicesand adaptation to the risk or condition(NSGC, 2005).National Society of GeneticCounselors
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Genetic counselling
Providing of information regardhealth and support by a specialistdoctor 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
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Aims of genetic counseling The genetic counseling aims to provide the family
with complete and accurate information aboutgenetic disorders.
1. Promoting informed decisions by involvedfamily members
2. Clarifying the familys options availabletreatment and prognosis
3. Explaining alternatives to reduce the risk of
genetic disorders4. Decreasing the incidence of genetic disorders
5. Reducing the impact of the disorders
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Function of genetic counsellingsession
Provide information
Available solution
Help person to understand and copewith his condition
Testing the risk of recurrence
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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
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INFORMATION CONVEYED IN GENETICCOUNCELING:
1. Magnitude of risk of occurrence orrecurrence
2. Impact of disease on patient and
family 3. Modification of disease impact or
risk
4. Anticipated future development
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STEPS OF GENETIC COUNCELLING:
Diagnosis
Prognosis
Treatment
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WHO ARE GENETIC COUNSELLERS ?
Postgraduates health professionals with a graduatediploma or Master's in genetic counseling.
Experience in the areas of medical genetics andcounseling.
Identify family at risk, investigates the problemspresent in the family, interpret information about the
disorder, analyze inheritance patterns and, risk of re-occurrence & review available option with the family.
Serves as educators and resource people for otherhealth care professional sand for general public.
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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 & geneticcounseling
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WHAT IS THE ROLE OF GENETIC COUNSELLING ?
Genetic Counselors provide geneticinformation. It is their counselling skills,including their ability to empathicallyconnect with their patients that leads to
demands for their skills.
Good Genetic Counselor have many
strengths. They make their clientsbest interest their foremost priority andare keenly attuned to complexprofessional and ethical challenges.
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Genetic Counselor use non-directivecounseling method to provide thebest service to those who need them
To develop a mutual relationship withthe client, to understand her or him, to
relieve any psychological distress,promote a sense of control, and helpfind solution to specific problems.
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Assess the clients strengths, values
and needs; provide an
individualization and flexiblecounseling style to suite each clientsneed and agenda; develop an
awareness of self; and attend to theirown inner life.
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The counselor tends to give advice,make decision, be coercive,persuasive, influencing, directingand controlling.
The counselor communicates,enables, explores, encourages,informs, offers choices, discusses
,promote autonomy ,is empathic,non-judgmental, and respectful ofthe client.
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nurse as genetic counselor
Important role in follow up, clarifyinginformation, providing continuous support tothe grieving process as appropriate
Helps to decrease the risk of transmitting the
disorder Discus along with genetic counselor and
family members on alternative arrangement asadoption, Artificial insemination, surrogate
pregnancy, prenatal diagnosis with selectiveabortion, prenatal treatment ,curativetreatment ,genetherapy and fetal surgery
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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.4/17/2012 30
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Genetic counselling ethics
Respect the right of individual
Non- directive approach
Keep privacy of individual and family
Maintain the communication betweencounsellor and his client
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IN SHORT GENETIC COUNSELLING IS
Determine the facts : Diagnosis, etiology, and inheritance patterns,
prognosis, natural history, treatment and re-occurrence 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 thecouple.Genetic counselling : It is non-directive.
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Genetic screening
Definition:
A search in apparently normal populationfor individual with abnormal geneswhich increase their risk or their offspring
of being affected by a disease.
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Types of genetic screening
1. Carrier identification
2. Prenatal diagnosis
3. Newborn screening
4. Forensic screening ( paternity test)
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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 geneticfield complexity and their life.
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Any question ?
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