1.

INTRODUCTION Counselling is a process of communication between two or more persons who

meet to solve a problem, resolve a crisis or take decision on various matters .Genetic counselling follows all basic characteristic of counselling process. As infectious diseases are being controlled, genetic disease is assuming more importance at least in some countries. The objective of genetic counselling is the prevention and control of these diseases.

2.

TERMINOLOGIES

Genetic counselling Genetic counselling is a communication process, which deal with the human problems associated with the occurrence or the risk of occurrence of a genetic disorder in a family. Prospective Counselling It is the counselling given to heterozygote unmarried carriers identified through genetic screening Retrospective counselling It is the counselling offered to couples who report voluntarily after the birth of a genetically affected child Heterozygous An individual in whom the members of apair of genes determining aparticular characteristics are dissimilar .

Genetic screening Screening test to discover whose genotypes are associated with specific Disease. Such individuals may latter develop the disease itself or pass on to their children .

Isong International society of nurses in CANADA Genetic nurses Nurses who work in the field of genetics Definition Reed used the term genetic counselling in 1963 ,to describe provision of medical information to parents regarding inherited condition. The AMERICAN SOCIETY OF HUMAN GENETICS provides a comprehensive definition for genetic counselling. It defines genetic counselling as a communication process, which deals with the human problems associated with the occurrence or the occurrence of a genetic disorder in a family This process involves an attempt of one or more appropriately trained persons to help the individual or family to Comprehend the medical facts including the diagnosis the probable course of the disorder and the available management Appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives Understand the options for dealing with the risk of recurrence Choose of action which seems appropriate to them in view of their risk and their family goals and act in accordance with that decision Make the best possible adjustment to the disorder in an affected family and or to the risk of recurrence of the disorder

3.

TYPES OF GENETIC COUNSELLING

Retrospective counselling It is offered to couples who usually report voluntarily after the birth of affected children .Based on the profile the counsellor explains probable risks associated with pregnancies. Various options available for the couples are discussed including pre -natal diagnosis of hereditary disorders and MTP of suspected pregnancies. The couples may adopt an acceptable option for dealing the problem. Eg. Mental retardation, inborn errors of metabolism 4. STEPS IN RETROSPECTIVE COUNSELLING

Precounselling assessment This involves accurate diagnosis of the condition ,family history and its confirmation and application of specific tests . Recurrence Risk Estimation This is based on the pedigree analysis, medical literature and results of the test Communication This involves communication of the results step l and step 2 to the consultant [who seeks counselling] ,also advise about the treatment and preventive measures. Follow up This involves update records ,referral of the consultant to appropriate institution and feedback.

Prospective counselling It is offered to heterozygote unmarried carriers identified through genetic screening, such individuals are explained the risks involved if they marry a

heterozygote carrying same trait. Already married heterozygote individual or consanguineous marriages are educated on the risk of having affected children. They are also educated on the advisability of terminating pregnancies in the event of an unfavourable pre natal diagnosis by amniocentesis. Eg sickle cell anemia,thallessemia

5. PRINCIPLES OF GENETIC COUNSELLING

> The autonomy of the individual or couple seeking genetic counselling course is paramount. > The individual or couple has the right for complete information; > Highest standards of confidentiality should be 6. GENETIC COUNSELLING TEAM Gentetic counselors Medical geneticists Phd nurses Psychologists Social workers

7. STEPS IN GENETIC COUNSELLING Diagnosis In some cases the goal of genetic counselling is to make a diagnosis of a particular genetic condition or syndrome. This is commonly the case when child is born with multiple birth defects or problems with growth and development. In another case diagnosis already is known, and the genetic counsellor or geneticist -probably will want to have documentation [such as lab test or doctors notes ]that state diagnosis .Having documentation assures that the information received in the session is accurate.all attempts should be made to establish a diagnosis using clinical examination ,pedigree analysis ,lab tests and follow up when available.

Prognosis Once a diagnosis is made, the next step is a family to understand what the diagnosis means on a practical level. The geneticist or counsellor will explain how this condition has affected other people with same diagnosis. Then they will use this information to help what kinds of symptoms or problems a family or you may face in future' complete information should be given to the family and the individual Treatment Recent medical advances have created effective treatment for many genetic diseases. Others have treatment that is experimental and controversial .There is still situations or conditions for which no treatment exists. In some situations ,such as some types of inherited cancer ,the genetic counsellor will recommend screening or testing for certain type of cancer if a person has that condition. At the end of genetic evaluation one should have a clear understanding of the available treatments for the genetic condition affecting the body. 8. INHERITENCE AND RECURRENCE RISKS Risk of genetic recurrence should be calculated using MENDELIAN and or empiric risk figures and conveyed to the family. Genetic conditions affect families in

different ways, a person who has a relative with a genetic condition may wonder about we chances of developing the condition themselves or having a child with the condition. A person with a genetic condition may wonder about the chances of passing this condition on to their children. The genetic counsellor will be able to answer these questions about the family history and how the condition runs in family. Counselling should be non directive and the individual, family are helped to take their own decisions maintaining their individual and family integrity.

Genetic Testing Available options, their merits and demerits including information about centres giving special tests or treatment to be explained. Support has to be to be sought from other organisations and collaboration initiated between genetic centres. There are more genetic tests available than even before. People have a lot of questions about how a genetic test is done, how useful it is ,what will cost, and who will have access to the result .The genetic counsellor will let you know whether testing is available for the condition that is affecting the family and answer any question you have about the test. Because genetic testing is optional ,it is important for you to get your question answered before you make a decision about having the test .If you decide to have testing the genetic services provider will review the result with you when it is available. Beneficiaries of Genetic Counselling People who have birth defects or genetic condition that had a child with birth defects or genetic condition and wish to have another child Parents who have a child with developmental delay, mental retardation or other problems with growth and development Women who have three or more miscarriages or infertility from an unknown cause. Pregnant women or couples considering having children in which The mother will be 35 years or elderly at the time of delivery The couple are blood relatives Testing during pregnancy indicated that the baby may have a birth defect or genetic condition. There is a family history of birth defects, mental retardation or genetic disease. People concerned that have inherited a tendency to develop cancer .

People concerned they may have inherited a tendency to develop a neurologic condition such as Huntington's disease [Huntington's chorea]

A person whose doctor or health care provider has recommended a genetic evaluation or genetic testing

Genetics in Nursing In a few years genetic practice has been transformed from hidden speciality to a recognised speciality practice. All areas of nursing practice have been impacted by recent advances in genetic knowledge and technology. Now nurses provide education to patient about hereditary risk for developing diseases, counsel about hereditary risks associated with genetic testing and manage diseases risk based on genetic information .The recent development of commercial testing. For susceptibility of genes [such as the predisposition genes for breast, ovarian and colon cancer have a great impact on nurses role in the identification and management of individuals at risk for developing many diseases. These development lead to tremendous change in genetic nursing practice Nurses are involved in managing genetic information since 1960 s ,when nurses provide services to children with genetic disorder .Although in some respects the nurses role today in managing genetic information and caring for individuals and families at risk for or diagnosed with genetic disease or condition similar to the traditional role ,the scope is much broader.

THE INTERNATIONAL SOCIETY OF NURSES IN GENETICS [ISONG] has clearly been the leader in working with nursing leaders to promote genetic nursing practice and develop a credentialing process for genetic nurses. ISONG was established in 1988

9. PRACTICAL APPLICATION OF GENETICS IN NURSING There is an opportunity for nursing to practice health promotion tailored to highly specific and uniquely personal dispositions in other words, individualized health care nurses can offer care that protects patients and families from the risks associated with genetic information including addressing family issues. Nurses are also needed to refer patients to genetic health care. Nurses require genetic knowledge to identify, refer support and care for persons affected by or at risk for genetic conditions. "Genetic nursing is a holistic practice that includes accessing, planning implementing and evaluating the physical, spiritual, ethical and psychosocial aspects of families and patients who have genetic concerns". Genetic nursing practice includes client and family assessment to identify genetic risk factors and intervention, information, service and referral needs take a detailed family history and construct a pedigree, analyse the assessment data provide genetic education and develop and carry out a plan of care to address genetic concerns. In addition nurses in genetics provide genetic counselling, surveillance and management of persons affected by or at risk for genetic conditions. The nurse also needs to explore possible psychosocial responses to the potential outcomes of a genetic test. If testing is pursued ,results are disclosed in person. At that point a tailored plan for prevention and early detection is written and given to the family or individual. Long term follow up includes assessment of adjustment to the test results and compliance and follow through with the plan for cancer prevention and early detection.

10. PRACTICAL APPLICATION OF GENETICS IN NURSING o Take detailed family histories and construct pedigrees o Assess hereditary and non hereditary risk factors.

o Interpret pedigrees

and identify genetic

condition

or genetic

predisposition to disease. o Planning, implementing, administering and evaluating screening and testing programs o Monitoring and evaluating clients with genetic disorders in a similar manner to other disorder working with families under stress caused by problems related to genetic to a genetic condition o Co coordinating are and services for individuals or families affected by genetic condition managing home care and therapy for persons with genetic diseases. o Following up on positive new born screening test Interviewing client with possible related condition o Assessing needs and interactions in client and families affected by genetic disease . o Assessing the client and families strengths and weakness and family functioning o Providing health teaching and education related to genetics. o Serving as an advocate for the client and family affected by a genetic disorder. o Participating the public education about genetics. o developing an individualized plan of care including guidance for a person with a genetic guidance.

o Explaining the purpose, meaning and implications of genetic testing and results. o Reinforcing and interpreting genetic counselling and make decision. o Recognising the possibility of a genetic component in a disorder and taking appropriate referral action. Appreciating and ameliorating the social impact of genetic problems on the patient, family and members of the community.

o Participate in and or initiate research in nursing intervention including genetic counselling strategies and methods and evaluation of such vulnerable population. 11. SUMMARY Genetic counselling is as important part in the prevention and control of genetic diseases. Genetic counsellors are health professional with specialised graduate degree and experience in the areas of medical genetics and counselling. The nurses are main part of genetic counselling team genetic nurses do screening of patient for genetic disorders, identifying potential risks and working with patients and treatment of diseases. At advanced practice level and with expanded skills, nurses themselves provide genetic counselling to vulnerable clients, by following the principles of genetic counseling.

12. CONCLUSION Today genetics is known is known to be a contributing factor in all kinds of health issues .The human genome project has successfully mapped many human genes that cause disease and has resulted in the technology that is critical to developing tests that are clinically available to the general population. This testing can be used to help confirm a diagnosis of a genetic disorder. All nurses have a role in the delivery of genetic sources and the management of genetic information. The care involved in genetics patients is very nursing oriented. It is the nurses to point the patient or family members into the right directions to better serve the patient.