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genetic counselling and role of nurse in genetic counselling
- 1. Submitted by Punam Biswas M.Sc Nursing 1st year GENETIC COUNSELLING Submitted to Dr. Hepsi Bai J Assistant Professor
- 2. INTRODUCTION
- 3. DEFINITION Genetic counselling has been defined as "an educational process that seeks affected and risk individuals understand the nature of to assist to a genetic disorder, its transmission and options available to them family planning.
- 4. HISTORY OF GENETIC COUNSELLING 1941 1st GC clinic in Mischigan 2nd GC clinic in Minnesto 1st ‘counselli ng in medical genetics’ book 1st Graduate course for genetic counsellor 1970 1955 1940 1979 1st Post Graduate course for genetic counsellor
- 5. CURRENT STATUS IN COUNSELLING Genetic Counseling is largely being provided by General Medical professionals or specialists of other fields like Gynecologists, Pediatricians, Oncologists, etc. who are not trained in Human Genetics or Genetic Counseling.
- 6. Reed proposed the term ‘Genetic Counselling’ in 1947
- 7. GENETIC COUNSELLING IN INDIA Prof IC Verma - Former professor of Paediatrics and Genetics at AIIMS, New Delhi. He is considered as the "Father of Genetics" in India. 1st genetic counselling programme started in 2007 1st genetic counselling center started in 2012 at AIIMS, New Delhi
- 8. GLOBAL TRENDS IN COUNSELLING
- 9. COUNSELLING IN INDIA Mohanty, D., & Das, K. (2011). Genetic counselling in tribals in India. The Indian journal of medical research, 134(4), 561–571. The present communication deals with our experience in counselling for haemoglobinopathies during Neonatal Screening Programme undertaken for sickle cell disease in Kalahandi district of Orissa and Community Screening Programmes in primitive tribes of India in four States viz. Orissa, Gujarat, Tamil Nadu and Maharashtra.
- 11. INDIAN ACADEMY OF MEDICAL GENETICS • https://www.iamg.in/medical_genetics_clinics_list.html • https://www.iamg.in/Genetic_Tests.html • https://www.iamg.in/Patient_resources.html • https://www.iamg.in/Clinician_Resources.html
- 12. GENETIC COUNSELLING IN AIIMS BHUBANESWAR • Tuesday 2pm-4pm • The sensitization programme on features of Down syndrome and approach to other common genetic disorders
- 13. WORLD DOWN SYNDROME DAY - 21ST MARCH
- 14. QUALIFICATION OF GENETIC COUNSELLOR 12+4 years courses in life sciences subjects such as psychology, medicine, nursing, sociology or any other allied fields along with clinical counselling experience Masters or phd degree in human genetics along with clinical counseling experience Worked at least for a minimum of 3 years in genetics or genomics lab to provide results related to counseling patients https://www.ge neticcounseling boardindia.com /how-to-get- bgci- certified.php
- 15. WHO PROVIDE GENETIC COUNSELLING Completed master programme Health professionals
- 16. SETTING • Clinic • Offices • Agencies • Laboratory • Hospital and medical centre
- 17. REFERRAL CLIENT • Physician • Nurses • Social service agencies • Speech and hearing clinic • Health department • Teachers
- 18. TIME Initial early interview Reduce negative feeling Support services for ongoing counselling
- 19. OBJECTIVES Make diagnosis, course of disease, treatment Reduce anxiety and guilt Helps couple make decision by non directive counselling approach
- 20. INDICATION IN GENETIC COUNSELLING Abnormal prenatal screening Unexpected amniocentesis Parents and close relative has disease >35 years of age Ethnic group
- 21. Diagnose genetic disease in family/ offspring Detection of carrier state in members Genetic investigation of recurrent pregnancy loss Advanced maternal age or consanguinity among parents PEDIGREE ETHNICITY ANTENATAL EXPOSURE CONSANGUINITY PURPOSE
- 23. CONSANGUINITY
- 24. CONT…
- 27. 3 MALE AND FEMALE AFFECTED MALE AND FEMALE CONSANGUINOUS MARRIAGE ABORTION PROPOSITUS DECEASED 3 UNAFFECTED MALES MONOZYGOTIC TWIN TWIN
- 28. SIMPLE PEDIGREE EXTENSIVE PEDIGREE
- 29. CONSTRUCTING PEDIGREE • How the disorder affects various family member • Relationship among affected and unaffected family member • Whether the disorder follow Mendelian inheritance
- 34. HUMANISTIC COUNSELLING THEORY Hold that people have within themselves all the resources they need to live healthy and functional lives, and that problems occur as a result of restricted or unavailable problem-solving resources.
- 35. COGNITIVE COUNSELING THEORIES Hold that people experience psychological and emotional difficulties when their thinking is out of sync with reality
- 36. BEHAVIORAL COUNSELING THEORIES Hold that people engage in problematic thinking and behaviour when their environment supports it.
- 37. PSYCHOANALYTIC COUNSELING THEORIES Hold that psychological problems result from the present-day influence of unconscious psychological drives or motivations stemming from past relationships and experiences
- 38. CONSTRUCTIONIST COUNSELING THEORIES Hold that knowledge is merely an invented or "constructed" understanding of actual events in the world it is those meaning-making processes, rather than the events themselves, that determine how people think, feel and behave
- 39. SYSTEMIC COUNSELING THEORIES Hold that thinking, feeling and behaviour are largely shaped by pressures exerted on people by the social systems within which they live
- 40. STEPS OF GENETIC COUNSELLING Step 1 Step 2 Step 5 Step 3 Step 4 Obtain history and prepare pedigree Initial interview Make a diagnosis Calculating and presenting a risk Placing risk in context
- 41. BASIS OF RISK ESTIMATION • Based on observed data clear basis of single gene inheritance Particularly applicable in X linked recessive inheritance EMPIRICAL RISK MENDELIAN RISK MODIFIED GENETIC RISK
- 42. PREREQUISITIES Exact diagnosis All the defects are not necessarily inherited Genetic diagram Senior member
- 43. PROSPECTI VE TRUE PREVENTION RESTROSPECTIV E AFTER CONTRACEPTIO N PEDIATRIC CHILD BORN >1 DEFECT ADULT IF A FAMILY MEMBER AFFECTED CANCER FAMILY MEMBER HAS DOMINANT GENE TYPES OF GENETIC COUNSELLING
- 45. OTHERS TYPE Directive vs non directive approach Group vs individual genetic counselling
- 46. GC OF SPECIFIC ORGAN SYSTEM
- 47. NEUROMUSCULAR DISORDER Muscular dystrophies Spinal muscular atrophies Charcot-Marie-Tooth disease ALS
- 48. CNS- PEDIARTIC & NEURO DEVELOPMENTAL DISORDER Syringomyelia Neurofibromatosis
- 49. DISORDER OF BONE AND CONNECTIVE TISSUE
- 51. LARSEN SYNDROME
- 59. EAR Deafness or hearing loss + retinitis pigmentosa Usher syndrome Lange – neilsen syndrome SNHL+ hypothyroidism Pendred syndrome B/L SNHL + prolong QT interval
- 60. DOWN SYNDROME • National Down Syndrome Society (NDSS) • Down Syndrome Federation of India (DSFI) • https://en.wikipedia.org/wiki/National_Down_Syndrome _Society • World down syndrome day 24- End The Stereotypes
- 61. GENETIC COUNSELLOR AWARENESS DAY • https://www.nsgc.org/Education-and-Events/Genetic- Counselor-Awareness-Day • 2k24 – 14th November, Thursday
- 62. FRAGILE X SYNDROME SOCIETY https://www.fragilex.in/ Fragile x syndrome awareness day – 22nd July
- 63. CURRENT ISSUES IN GENETIC COUNSELLING FINANCING OF GENETIC COUNSELLING NATIONAL REGULATION GOVENING PRACTICE You can simply impress your audience and add a unique zing and appeal to your Presentations. Easy to change colors, photos and Text. Contents Title You can simply impress your audience and add a unique zing and appeal to your Presentations. Easy Contents Title
- 64. CURRENT TRENDS IN GENETIC COUNSELLING EXPANSION OF GENETIC TESTING IN CLINICAL PRACTICE INCREASE COMPLEXITY IN GENETIC TESTING You can simply impress your audience and add a unique zing and appeal Contents Title INCREASE GC DEMAND
- 65. APPLICATION OF GENETICS IN NURSING • Nurses must learn to think genetically • New opportunity to prevent, learn and treat disease • 5 main activities by nurses in practice
- 66. 5 ACTIVITIES HISTORY IDENTIFY OFFER COLLABOARTE . PARTICIPATE
- 67. CODE OF ETHICS • Autonomy • Nonmaleficience • Beneficence • Justice
- 68. AREAS OF GENETIC COUNSELLING
- 70. Suspect genetic disorder Explain diagnosis prognosis, treatment Create pedigree Clean up misconception Reinforcement self image ROLES ROLES OF NURSE IN GENETIC COUNSELLING
- 71. ROLES OF NURSE IN GENETIC COUNSELLING Encourage interaction Follow ethical principal Prepare family member Check with gvt policy Associate professional responsibility
- 72. SUMMARIZATION
- 73. CONCLUSION
- 74. BIBLIOGRAPHY Zakaria, W.N.A., Yoon, SY., Wijaya, A. et al. Global trends and themes in genetic counseling research. Eur J Hum Genet 31, 1181–1184 (2023). https://doi.org/10.1038/s41431-023-01371-3 • Abstract This article seeks to highlight the most recent trends and themes in genetic counseling that are of broad interest. A total of 3505 documents were published between 1952 and 2021, with a trend toward increase in paper/year. The most common documents are original articles (2515, 71.8%), followed by review articles (341, 9.7%). Journal of Genetic Counseling publishes the highest number of genetic counseling articles (587, 16.7%), followed by Clinical Genetics (103, 2.9%) and the South American Journal of Medical Genetics (95, 2.7%). Co-occurrence analysis revealed five research themes: genetic testing, cancer, genetic counsellor, prenatal diagnosis, and psychiatry.
- 75. CONT… • Materials and methods The literature was searched and retrieved from the Scopus database on January 19, 2022. The Scopus database is regarded as one of the most significant and exhaustive collections of scientific information in the world [9]. The following search string was used in the article title: “genetic counseling”. All document types written in the English language and released between 1952 and 2021 were included, except for erratum. • Conclusions The field of genetic counseling is growing as genomic medicine develops. Genetic counseling research has identified the following themes: genetic testing, cancer, genetic counselor, prenatal diagnosis, and psychiatry. Future directions in genetic counseling research may be related to the requirements and challenges of genetic counselors, according to the emerging topics.
- 76. CONT.. • BOOKS Bamshad CJ. Medical genetics. Genetic counselling. ELSEIVER. 2nd South asia edition. 5-35 Clarke A. practical genetic counselling. CRC press. 8th edition. 142-158 Wilson H. Wong’s essential of pediatric nursing. ELSEIVER. 3rd South asia edition. 60-78 Brar. NK. textbook of advanced nursing practice. Jaypee.2nd edition . 253-269