genetics counselling

GENETICS  INTRODUCTION:The term genetics was introduced by Bateson in 1906.it has been derived from Greek word ‘gene’ which means ‘to become’ or ‘to grow into’. So,Genetics is that branch of biological sciences which deals with the transmission of characteristics from parents to offspring. DEFINITION:Genetics can be defined as the study of genes and of the statistical laws that governs the passage of genes from one generation to next.

GENETIC COUNCELLING  INTRODUCTION:Genetic councelling is offered to people with genetic disease and their  families and to individuals,who are suspected of having the genetic condition.it is a process when qualified genetic councellor will conduct genetic tests,evaluate family history and medical records to indentify the possibilitiy of passing any genetic disorder to baby. These disorders are caused by defects in genes; for example Down Syndrome and Sickle cell disease.

DEFINITION:1.Genetic councelling is a process by which patients or relatives,at risk of an inherited disorder,are adviced of the conseqences and nature of the disorder,the probability of developing or transmitting it and the optins open to them in management and family planning in order to prevent or avoid it. From Wikipedia,the free encyclopedia 2.Genetic councelling is a process of communication,the intent of which is to provide individuals and families having a genetic disease or at a risk of such disease with information about their condition to explore the pesonal consequences of their  information and to provide information that would allow the couples at risk to makeinformed reprodutive decisions. By American society of human genetics in1975  3.Genetic 3.Genetic counseling is defined as process in which patients or their relatives ,at the risk of genetic disorder are made aware of the consequences of disorder, its transmission and the ways by which this can be prevented. INDICATIONS FOR GENETIC COUNCELLING:disease in apatient or family 2.Birth defects 3.Mental retardation 4.Advanced maternal age 5.Early onset of cancer in family 6.Miscarriages 7.Malformations 8.tendency to develop a neurologic conditions

1.Hereditary

INFORMATION CONVEYED IN GENETIC COUNCELLING:1.Magnitude of risk of occurence or recurrence 2.Impact of diseas on patient and family 3.Modification of disease impact or risk 4.Anticipated future development STEPS OF GENETIC COUNCELLING:1.Diagnosis a.History b.Examination c.Laboratory investigations 2.Prognosis:After diagnosing,next step is for the family to understand what the diagnosis means on a practical level.Important factors in this are: a.psychology of the patient b.the emotional stress under prevailing circumstances 3.Treatment:It is directed toward minimizing the damage by early detection and preventing further irreversible damage. LEGAL AND EHICAL ISSUES:1.Respect for autonom 2.Beneficence and nonmaleficence 3.Privacy and confidentiality 4.Justice and equity BENEFICIARIES OF GENETIC COUNCELLING:1.Having birth defects or genetic condition 2.Parents having child with development delay. 3.Women having three or more maiscarriages

GENETIC TESTING 

INTRODUCTION:

Genetic testing is a broader sense includes biochemistry tests for possible presence of genetic disease or mutant forms of genes associated with increased risk of developing genetic disorders. PROCEDURE OF GENETIC TESTING:1.Obtaining consent 2.Taking samples 3.Testing of samples 4.Interpreting the results 5.Passing the information to patient along with councelling INDICATIONS FOR MAKING A GENETIC REFERAL:1.Maternal risk factors 2.Prenatal risk factors 3. Pediatric conditions 4. Adult conditions TYPES OF GENETIC TESTING:1. Prenatal testing 2. Newborn screening 3. Diagnostic testing 4.Carrier detection screening 5.Predictive and presymptomatic testing 6.Forensic testing 7.Research testing INTERPRETING RESULTSOF A GENETIC TEST:1. Positive test result 2. Negative result BENEFITS OF GENETIC TESTING:• • •

Provide sense of relief from uncertainity Making informed decisions Eliminating the need of unnecessary checkups and

screening RISKS AND LIMITATIONS OF GENETIC TESTING:- Physical risks - Emotional,social or financial consequences - Lack of treatment strategies even after diagnosis

PRACTICAL APPLICATION OF GENETICS IN NURSING 

1.collecting,reporting and recording genetic information Obtaining family and reproductive history Family medical conditions having a genetic component Consanguinity History of miscarriages,birth defects,maternal conditions and medications Racial and ethnic background Social,cultural and spiritual assessment Physical assessment 2. offering genetic information and testing Genetic screening Nursing consideration in genetic screening and testing Assurance of informed choice and consent ffor prenatal, carrier, presymptomatic and genetic research testing;support and advocacy 3. nursing care of patients with genetic condition Direct nursing care Nursing responsibilities in caring for patients and families undergoing gene therapy • • • • • • •

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CONCLUSION :-

Genetic testing identifies changes in chromosomes,genes/DNA or proteins and in broader sense it includes biochemistry tests for possible presence of genetic disease.If there is positive result then we do the genetic councelling which is a process in which patients or their relatives at risk of genetic disorder are made aware of the consequences of disorder ,its transmission and the ways by which this can be prevented. BIBLIOGRAPHY :•

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G.P.Pal’s, Basis of medical genetics’, AITBS Publishers,edition-2nd (2006),page no.:139 to 144 Dr. S.S. Randhawa, A textbook of genetics,edition 1st(2009), page no.-297to301 and 329 to 336 Suresh Kumar Sharma’s ,Human genetics in nursing, Jaypee brothers, edition 1st(2008),page no.-46 to 55 and 100 to 109 SD Gangane’s , Human genetics, edition 3 rd(2008), page no.-207 to 215 Neil R. Carlson,William Buskrist, psychology `the science of behaviour’ ,edition 5 th (1984) page no.-67’68

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Dale Halsey Lea,RN,MPH ,Jean F. Jenkins,RN,MSN ,Clair A. Francomano,MD,`Genetics in clinical practice,New direction for nursing and health care’ edition- 4th,page no. 71 to 98 Felissa R. Lashley, clinical genetics in nsg practice, edition -3 rd,page no.-3 to 14,215 to 270

NET:-  • • • • • •

www.google.com www.wikipedia.com www.pubmed.com www.medindia.net/patients/genetic councelling-step.htm www.scribd.com A1books.co.in

JOURNAL:-  •

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Nightingale nursing times `2008’ Dy,N,Holmes,L.B(1973).American journal of human genetics, page no.-237 to

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The American Journal of nursing,volume no. :10,page no. 248 to257