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INTRODUCTION
Counseling is a process of communicating between two or more persons who meet to solve a problem, resource a curse or take decision on various matters. It is not a one way process where in the counseling tells the client what to do nor it is a forum for presentation of the counselors values. Genetic counseling process follows these basic characteristic of a counseling process. It is undertaken with families confronted with genetic and inherited disorders. Sheldon Reed proposed the terminology GENETIC COUNSELING in 1947.
DEFINITION
The American society of human Genetic define Genetic Counseling as a communication process, which deals with human problems associated with the occurrence or the risk of occurrence of a genetic disorder in a family.
Smith (1955) defines Counseling as a process in which the counselor assists the counselee to make interpretations of facts relating to a choice, plan or adjustments which he needs to make
PURPOSE
Provide concrete, accurate information about inherited disorders. Reassure people who are concerned that their child may inherit a particular disorder that the disorder will not occur. Allow people who are affected by inherited disease to make informed choice about future reproduction. Educate people about inherited disorder and the process of inheritance. Offer support by skilled health care professionals to people who are affected by genetic disorders.
INDICATION
If
a standard prenatal screening test (such as fetoprotein test) yields an abnormal result. An amniocentesis yields n unexpected results (such as chromosomal defect in the unborn baby). Either parent or close relative has an in heritance disease or birth defect, either parents already has children with birth defect or genetic disorders. The mother has had two or more miscarriage or a baby dies in infancy. The mother is 35yrs of age or over. The partner is blood relatives.
Pedigree Charting At a glance this offers in a concise manner the state of disorder in a family. Constructing a pedigree with proper interrogation though time consuming, is ultimately rewarding. If forms an indispensable step towards counseling
Estimation of Risk: It forms one of the most important aspect of genetic counseling. It is often called recurrence risk. To estimate it one requires to take into account following points: Mode of inheritance Analysis of pedigree or family tree Results of various tests
Transmitting Information After completing the diagnosis, pedigree charging and estimation of risk the next most important step is of communicating this information to the consultants. This important functioning involves various factors such as Psychology of the patient. The Emotional stress under prevailing circumstances. Attitude of family members towards the patients. Educational, social and financial background of the family. Gaining confidence of consultants in subsequence meetings during follow up. Ethical, moral and legal implications involved in the process. Above all, communication skills to transmit facts in an effective manner i.e. making them more acceptable and palatable.
Management: In genetics, Treatment implies a very limited scope. It naturally aims for prevention rather then cure. In fact for most of the genetic disorders cure is unknown. Treatment is therefore directed towards minimizing the damage by early detection and preventing further irreversible damage. For example n PKU, i.e. phenylketonuria. This disorder is characterized by a deficiency of phenylalanine hydroxylase enzyme, which is necessary for the conversion of phenylalanine to tyrosine
Level II Ultrasound The maternal serum AFP Chorionic Villus sampling (CVS)
Amniocentesis
Adult Genetic Counseling Adults may seek genetic counseling when a person in the family decided to be tested for the presence of a known genetic condition, when an adult begins exhibiting symptoms of an inherited condition, or when there is a new diagnosis of someone with an adult-onset disorder in the family In addition, the birth of a child with obvious features of a genetic disease leads to diagnosis of a parent who is more mildly affected Genetic counseling for adults may lead to the consideration of presymptomatic genetic testing
ROLE OF A NURSE IN GENETIC COUNSELING Guiding a women or couple through prenatal diagnosis. Helping parents make decision in regard to abnormal prenatal diagnostic results. Assisting parents who have had a child with a birth defect to locate needed service and support. Providing support to help the family deal with the emotional impact of a birth defect. Coordinative services of other professionals, such as social workers, physical and occupational therapist, psychologist & dietician.
CONCLUSION Genetic Counseling enables couples / affected individual to make decision about a future pregnancy. It helps the affected individual to educate and cope with the disorders with minimal clinical problem. Therefore Genetic Counseling is done in an objective manner, so that any treatment selected remains the personal choice of the individual involved. Hence thorough knowledge of the disease for giving information regarding the cause and risk factors of the disease is necessary before counseling.
BIBLIOGRAPHY
Keya Lahiri Clinical genetics 1ST edition 2005, Jaypee Publications, page no: 41, 104-106. Suresh kumar Sharma,Human genetics in nursing 1st edition 2007, Jaypee Publication, page no: 106-109. Trula mayer, Foundation of maternal newborn nursing Saunder Publication, page no : 81-84. Ladewig, Maternal newborn nursing5th edition, Benjamin Publication Company, page no: 167-175 . Elizabeth M. Variorolis Foundation of psychiatrics mental health nursing 4th edition 2002, Saunders Publication, page no:210-211. http://www.medindia.net/patient/patient info/genetic counseling http://www.kidshealth.org/pregnancy/newborn/medical problems/genetic counseling.html