Teaching Practice Genetics.docx

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define genetic counselli ng

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INTRODUCTION I am Soumya Raj 1ST year MSc Nursing student as a part of my teaching practice I am here to teach u 5 year boy was brought to triage on stretcher with the collar band around neck and waddling gait and the boy is unable to walk or stand due to muscle weakness ,with shorten muscle and tendon and he looks so small than his age ,can u guess what is his disease condition Genetic counseling is a communication process concerned with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in family .it involves relaying information about the diagnosis, treatment options, recurrence risk, and availability of prenatal diagnosis .with the completion of the Human Genome project, the international project to determine the total genetic information in humans.

DEFINITION Genetics – it deals with heredity and is

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Define Genetics, Counselin g ,genetic counselin g

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Why the family history and antenatal history is necessary

concerned with the study of chromosomes and genes and has remained one of the most fascinating branches of biology over the centuries. Counseling –the provision of professional assistance and guidance in resolving personal or psychological problems

Genetic counseling -is a communication process which deals with human problems associated with the occurrence or risk of genetic disorder in a family Genetic counseling -is giving of advice to prospective parents concerning the risk of genetic disorders in a future child. 3

enlist the steps of genetic counseli ng

STEPS OF GENETIC COUNSELING

Identify their needs

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Family history and history of pregnancy

Establish the diagnosis

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Communicate the information learned

Help the concerned individual and family to adjust psychologically

A )Identify their needs When individual or family desires genetic counseling ,the first step is to identify their needs: i.e. their expectations and concerns about the disorder in question Example- will our child be normal, what are expectations of survival chance of our child etc.

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B) Includes family history and history of pregnancy Family history includes when a disorder have a genetic basis in question. a detailed family history is essential for the formulation of the family pedigree. a complete pedigree includes 2nd and 3rd degree relatives like grand parents and their parents also. The maternal –fetal history can provide information on drug ingestion, infection or environmental contaminants to which the mother is exposed during pregnancy information can also be obtained concerning with the events at birth and postnataly. C) Is to establish the diagnosis To accomplish the goal, a physical examination is required for the affected individual and appropriate family members in addition to varied diagnostic procedures. D) Communicate the information learned In counseling is to communicate the information learned to the concerned person .this information may include

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diagnosis, risk of recurrence, course of condition, possible therapy and prognosis. Information can also be given concerning whether future reproduction should be considered or whether the alternatives such as conception, sterilization, artificial insemination or adoption would be followed. E) Help the concerned individual and family to adjust psychologically In counseling process is to help the concerned individual or family to adjust psychologically to the information .any negative emotions such as guilt and anxiety should be discussed and if possible alleviated. In genetic counseling of a family, both parents should be present at the discussion to prevent possible interpretations. the conference should

How counselli ng helps the individual and family

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arranged in a private room without the presence of Leacture cum affected child, who might be traumatized by the discussion emotional stress 4

Understan d the goals of genetic counseling

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GOALS

 To alert health professionals to the problem of genetic disease.  To reduce the number of children affected with hereditary conditions.  To reduce the medical, emotional. Social and psychological sufferings that result a from the genetic contribution to disease.  To ensure the coast effective and equitable delivery of competent genetic counseling services to all people in a manner that respect their dignity, individuality and values.

Ppt

What are the goals of genetic counselli ng

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list out the principle s of genetic counseli ng

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ACCURATE DIAGNOSIS An accurate diagnosis should be made before the information is given to the client and family

Lecture cum discussion Chart

Teacher explains and student listen

Chart

Teacher explains and students listen

NONDIRECTIVE COMMUNICATION Helps the family members to take decisions by themselves .the counselors role is to provide information and not to make decision from them CONFDENTIALITY Confidentiality should be maintained in all information given by the family. The family members should be assured about it TRUTHFULNESS The counselor should be truthful to the family and all information’s given to the family are true, the family members have the right to know the real matters. TIMING Genetic counseling should be encouraged to come for follow-up visits. Families

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How do principles help in genetic counselli ng

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TIMING Genetic counseling should be encouraged to come for follow –up visits. Families should be encouraged to keep up new information about the disorder. FOLLOW –UP COUNSELLING Families should be encouraged to come for follow-up visits. Families should be encouraged to keep up with new information’s about disorder.

PREVENTION 6

Describe prevention of genetic disorder

METABOLIC SCREENING Newborn infants are screened routinely for some inborn errors of metabolism. this is the special value for detecting the affected cases during the newborn period, so that the handicap can be prevented or minimized by early treatment e.g phenylketonuria,glactosemia,familial hypercholesterolemia, congenital hypothyroidism,tyrosinisis etc.

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TIMING Genetic counseling should be encouraged to come for follow –up visits. Families should be encouraged to keep up new information about the disorder. FOLLOW –UP COUNSELLING Families should be encouraged to come for follow-up visits. Families should be encouraged to keep up with new information’s about disorder.

PREVENTION METABOLIC SCREENING Newborn infants are screened routinely for some inborn errors of metabolism. this is the special value for detecting the affected cases during the newborn period, so that the handicap can be prevented or minimized by early treatment e.g phenylketonuria,glactosemia,familial hypercholesterolemia, congenital hypothyroidism,tyrosinisis etc.

discussion

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Teacher explains and student listen.