genetic counseling gnm classs

8/4/2019 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

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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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genetic counseling gnm classs

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