GENETIC COUNSELLING (BSc NURSING, GNM, ANM.pptx

GENETIC COUNSELLING
The process of informing and advising patients and their relatives (who are at risk of a genetic condition) about the effects of the disorders, the possibility of acquiring them, and the risk of transferring them to the future generation, is termed as genetic counselling.

1. By drx shubham kumar GENETIC COUNSELLING

2. Definitions The process of informing and advising patients and their relatives (who are at risk of a genetic condition) about the effects of the disorders, the possibility of acquiring them, and the risk of transferring them to the future generation, is termed as genetic counselling . Then, the decisions on available testing, health management, treatment, and family planning options can be made by the individuals.

3. Purpose To provide detailed information on genetic disorders. To comfort the parents who are worried that a particular genetic disorder may pass on to their child, will not be inherited. To let the parents having an inherited disease take decision for their forthcoming generation. To make people aware of inherited disorders and the process of inheritance. To provide support by skilled healthcare professionals to those who are affected by genetic disorders.

4. Types of Genetic Counselling Prospective Genetic Counselling: This provides a true prevention of genetic diseases. By screening any specific genetic defect, it identifies heterozygous individuals. It involves educating them about the risk of having affected children as a consequence of marrying another heterozygote of same gene. Birth of affected children can be reduced by preventing heterozygous marriage. Retrospective Genetic Counselling: It is done when the hereditary disorder has already occurred within the family. Contraception, pregnancy termination, and sterilisation are the methods suggested under retrospective genetic counselling.

5. Steps of Genetic Counselling History and Physical Examination: Present and past history, detailed family history, obstetric history including stillbirths and abortions (if any), and exposure to teratogen should be obtained. The affected and apparently unaffected individuals in the family should be carefully examined (photographs and measurement). Pedigree: A 3 generation pedigree diagram should be created with their age, sex, and state of health. Risk Assessment: Recurrence risk should be taken into account. Diagnosis: Available diagnostic tests should be conducted to confirm the diagnosis. Communication: The information should be provided for discussion and questions. Management: The options for treatment or prevention of genetic diseases (medical termination of pregnancy) and prevention of known complications should be discussed. Support Groups: The group of patients or parents of children with same disorder should be provided support.

6. Benefits of Genetic Counselling Increased Understanding: The probability of Down syndrome, cystic fibrosis, Tay -Sachs disease, or sickle cell anaemia in the foetus during birth can be estimated by conducting genetic screening tests. Information of any possible benefits of precautionary measures should be provided to the individual or their family by the genetic counsellors . Better Peace of Mind: It can be a cathartic for future parents to know that they are not the carriers of a gene of a particular disease. Early Intervention: A hidden gene mutation which can put the individual in threat of developing a disease can be detected by genetic tests. Genetic counsellors guide the individual about the condition and what measures should be taken for preventing the development and spread of the disease. Appropriate Testing: If any regular prenatal screening test gives negative results, the couples are guided by the genetic counsellor about the suitable test for pregnancy. Decision-making: The testing selections, diagnosis, causes of genetic disorders, and decision making regarding genetic testing or family planning are guided by the genetic counsellors .

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