Genetic counseling

Presentation by;

Sindhu Sebatian Lecturer FMCON

Counseling
Websters 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)

General concept

Genetic: Branch of science which studies genes and the pattern of inheritance of particular diseases or Genetics is that branch of biological sciences which deals with the transmission of characteristics from parents to offspring.

Inheritance: The passing of familial elements from one generation to the next.

DNA : molecule encodes the genetic information.

Gene: gene is the functional subunit of DNA and contain instruction for making protein. Genetic pedigree: a diagrammatic representation of diseases history in a family up to 3rd degree relative.

Pattern of inheritance
Chromosome: A structure within the cell that deliver the genetic material as DNA.

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.

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.

Genetics

DEFINITION: Genetics can be defined as the study of genes and of the statistical laws that governs the passage of genes from one generation to next.

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. This complex process can be seen from diagnostic (the actual estimation of risk) and supportive aspects

Genetic counselling

Providing of information regard health and support by a specialist doctor a geneticist to client (a person who perform genetic test).

Function of genetic counselling session

Provide information Available solution Help person to understand and cope with his condition Testing the risk of recurrance

INDICATIONS FOR GENETIC COUNCELLING

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

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.

work in administration capacities. Many engage themselves in research activities related to the field of medical genetics & genetic counseling

WHAT IS THE ROLE OF GENETICCOUNSELLING ?

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.

Genetic Counselor use non-directive counselling 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.

assess the clients strengths, values and needs; provide an individualization and flexible counselling style to suite each clients need and agenda; develop an awareness of self; and attend to their own inner life.

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.

PRE-REQUISITES OF GENETIC COUNSELLING IS :-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.

IN SHORT GENETIC COUNSELLING IS :GENETIC COUNSELLING IS

Determine the facts : Diagnosis, etiology, and inheritance patterns, prognosis, natural history,treatment and reoccurrence of risk. Transmitting the information : To thoserequesting it in a sensitive, culturally appropriate,understandable way. Supporting the decision : Supporting thedecision making process of the couple. Genetic counselling : It is non-directive.

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.

Types of genetic screening

1. Carrier identification 2. Prenatal diagnosis 3. Newborn screening

4. Forensic screening ( paternity test)

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

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.

Any question