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Genetic counseling

Presentation by;

Sindhu Sebastian

Lecturer FMCON

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Counseling

Webster’s Dictionary

Counseling is consultation, mutual interchange of opinions,

deliberating together.”

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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.

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Brief history George Mendel ( the father of genetic)

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General conceptGenetic: 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.

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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

 

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Genetic pedigree: a diagrammatic representation of diseases history in a family up to 3rd degree relative.

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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.

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Pattern of inheritanceMutant 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.

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Genetics

DEFINITION: Genetics is defined as a branch of medical science sciences which concerned with the transmission of characteristics from parents to offspring.

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Genetic counseling

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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.

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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

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Genetic counsellingProviding 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

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Aims of genetic counselingThe genetic counseling aims to provide the

family with complete and accurate information about genetic disorders.

1. Promoting informed decisions by involved family members

2. Clarifying the family’s options available treatment and prognosis

3. Explaining alternatives to reduce the risk of genetic disorders

4. Decreasing the incidence of genetic disorders

5. Reducing the impact of the disorders

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Function of genetic counselling session

Provide information Available solution Help person to understand and

cope with 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 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

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STEPS OF GENETIC COUNCELLING:

Diagnosis Prognosis Treatment

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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 re-occurrence & review available option with the family.

Serves as educators and resource people for other health 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 & genetic counseling 

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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.

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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.

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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.

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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.

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nurse as genetic counselorImportant 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

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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.

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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

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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 the

couple.Genetic counselling : It is non-directive.

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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.

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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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conclusionMany 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.

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Any question ?

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