genetic councelling.pptx nursing ppt good

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1. Genetic counselling Purbasha Banerjee

2. Definition “ Genetic counselling is a communication process which deals with the human problems associated with the occurrence or the risk of occurrence of a genetic disorders in a family.

3. PURPOSES OF GENETIC COUNSELLING- A child has been born with a diagnosed congenital problem or a group of malformation. A medical problem has affected more than one member of the family and suspected to be genetic. A family has one or more mentally retarded children or having delayed physical and mental developmental milestones. Exposure of some environmental agents( teratogens). Closely related couples want to know their risk of having a child with a birth defect. When one person want to marry and unknown about hereditary problem in one or both family. A genetic disorder is detected during prenatal diagnosis. To choose the course of action which seems appropriate to them in view of their risk and family goals and act in accordance with that decision. To make the best possible adjustment to the disorder in an affected family members and or the risk of recurrence of that disorder.

4. BENEFICIARIES OF GENETIC COUNSELING- People who have a birth defect or genetic condition. Parents who have had a child with a birth defect or genetic condition. Parents who have a child with developmental delay, mental retardation or other problems with growth and development. Women who have had three or more miscarriages or infertility from an unknown cause. Pregnant women or couples considering having children in which - Mother will be 35 years or older at the time of delivery. - The couples are blood relatives - Testing during the pregnancy indicated that the baby may have a birth defect, mental retardation, or genetic disease. People concerned they may have inherited a tendency to develop a neurological condition such as Huntington Disease. A person who’s doctor or health care provider has recommended a genetic evaluetipon or genetic testing.

5. TYPES OF GENETIC COUNSELLING- Prospective genetic counselling- Prospective genetic counselling allows for the true prevention of diseases. This approach aims at preventing or reducing heterogenous marriage by screening procedures and explaining the risk of affected children ( example – Thalassemia, Sickle cell anemia .) Retrospective genetic counselling- Is mostly done at present, after a hereditary disorder has already occurred within the family. The methods could be suggested under the retrospective genetic counselling are

6.   PHASES OF GENETIC COUNSELING Assessment phase: This is primary beginning phase of counselling in which following tasks are accomplished; Initial interview with counselee and family for preparation of counselee for genetic counselling. Collect family history, and other relevant histories, prepare and analyze pedigree. Carryout primary assessment of counselee: physical examination etc. Considering potential diagnosis based on collected information.

7. Diagnostic phase: In some cases, the goal of a genetic evaluation is to make a diagnosis of a particular genetic condition or syndrome. This is commonly the case when a child is born with multiple birth defects or problems with growth and development . In other cases, the diagnosis already is known, and the genetic counsellor or geneticist probably will confirm the established diagnosis to proceed for next phases of the counselling. Therefore, this phase includes following steps: Confirmatory or supplementing tests or procedure such as: - Chromosomal analysis, Biochemical tests, Molecular DNA testing, X-rays, biopsy, Linkage analysis, Developing testinng Prenatal diagnosis, Immunological tests etc Establishment of an accurate diagnosis

8. Analysis phase: This phase includes following tasks. Literature search and review of information. Consultation with other experts. Compiling of information and determination of recurrence risk.

9. Communication phase: This phase includes, Communication of the results and risk to the counselee and to the family, if appropriate. Discussion of natural history of disorder, current treatment options and anticipatory guidance, if relevant. Discussion of options and review of questions Assess the counselee’s understanding about facts and relevant hereditary pattern, diagnostic and management options for disorder. All explanation should be culturally appropriate for counselee and appropriate for their education.

10. Referral and support phase: Refer the individual to genetic specialist for further intervention, for example, referral for prenatal diagnosis or treatment modalities for different disorder. Support of decision made by counselee. Psychological support should be provided throughout the process. Follow up and evaluation.

11. WAY OF GENETIC TESTING Amniocentesis is a test performed between weeks 16 and 18 of a woman's pregnancy. The doctor inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around the developing fetus . This fluid can be tested to check for genetic problems and to determine the sex of the child. When there's risk of cesarean section or premature birth, amniocentesis may also be done to see how far the child's lungs have matured. Amniocentesis carries a slight risk of inducing a miscarriage.

12. Chorionic villus sampling (CVS) is usually performed between the 10th and 12th weeks of pregnancy. The doctor removes a small piece of the placenta to check for genetic problems in the fetus . Because chorionic villus sampling is an invasive test, there's a small risk that it can induce a miscarriage.

13. Prerequisites of genetic counselling- Counselling should be carried out in a relaxed atmosphere with sufficient time to absorbe the initial shock of diagnosis. Obtain accurate prenatal, natal and postnatal history along with medical history of the disorder and family history. Prepare a family chart. Clinical examination of affected child. Confirmation of diagnosis by investigations Awareness about the emotional reactions of the parents and their acceptance of the malformed child.

14. WHO CAN DO GENETIC COUNSELLING- If you are a graduate nurse or midwife, have two years post- registration experience, have completed counselling skills training of at least 90 hours duration and a genetics course of at least 30 hours, you will be eligible to apply for a position as a genetic counsellor. When applying for a post in a genetics centre, community experience is helpful, as many genetic counsellors visit families at home. Additional education or experience in the field of genetics is also desirable. If you are a graduate of a discipline related to clinical genetics, such as genetics, biology, psychology or sociology, then you could apply to do a Master's degree in genetic counselling.

15. ROLE OF NURSES IN GENETIC COUNSELING Receive the client and family and make them comfortable in assessment room for genetic counselling. Obtain prenatal , family, and other health histories from individual and family. Identify families at risk, investigate the problems present in the family , interprate information about the disorder , analyze inheritance patterns and risks or recurrence and review available testing options with the family. Prepare and analyze pedigree, to establish information about hereditary pattern. Provide psychological support to individual and family throughout the counseling . Collect other related information from individual and family, for example , any prior test to report or documents. Obtain an informed written consent for any planned genetic test or intervention. Encourage the individual and family to ask question as much as they understand about all aspects of disorder, about genetic testing , management , inheritance pattern and natural course of disorder.

16. Provide all explanation about all the question related to genetic testing , treatment modalities and inheritance pattern of disorder , which should be culturally appropriate for counselee and appropriate for their educational level. Genetic nurses provide information and support to families who have members with birth defects or genetic disorders , and to families who may be at risk for a variety of inherited conditions. Establish a plan of care with the family and coordinate care with other healthcare professionals. Maintain privacy and confidentiality of all the information related to individual and family, Only disclose the information as per individual’s wish and permission. Provide the referal guidance to individual for genetic specialist for further interventions. Coordinate for available community resources to help individual and family to provide available help. Be available for the individual and family for any genetic services through the course of disorder. Ensure follow-up and supportive services to individual and family during entire course of need.