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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 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 concept

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.

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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

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 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.

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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 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

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Aims of genetic counseling

The genetic counseling aims to provide the family with complete and accurate information about genetic disorders.

1. 2. 3.

4.
5.

Promoting informed decisions by involved family members Clarifying the familys 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
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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 reoccurrence & 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. 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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Good

 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 clients strengths, values and needs; provide an individualization and flexible counseling style to suite each clients 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.
counselor communicates, enables, explores, encourages, informs, offers choices, discusses ,promote autonomy ,is empathic, non-judgmental, and respectful of the client.
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The

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

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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 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.
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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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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.
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Any question ?

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