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SIDAVEERAPPA B. TUPPAD LECTURER DEPT. OF PSYCHIATRIC NURSING SAJJALASHREE INSTITUTE OF NURSING SCIENCES, NAVANAGAR-BAGALKOT
avoid or ameliorate it. are advised of the consequences and nature of the disorder.Genetic counseling Genetic counseling or counselling (British English) is the process by which patients or relatives. and the options open to them in management and family planning in order to prevent. at risk of an inherited disorder. This complex process can be seen from diagnostic (the actual estimation of risk) and supportive aspects . the probability of developing or transmitting it.
Genetic counseling can occur before conception (i. Most enter the field from a variety of disciplines. psychology. investigate the problems present in the family. Genetic counselors are expert educators. Genetic counselors work as members of a health care team and act as a patient advocate as well as a genetic resource to physicians. including biology. pediatric care centers. Genetic counselors provide information and support to families who have members with birth defects or genetic disorders. . They identify families at risk. Genetic counselors are present at high risk or specialty prenatal clinics that offer prenatal diagnosis.e. such as Huntington's disease or hereditary cancer syndromes). and to families who may be at risk for a variety of inherited conditions. when one or two of the parents are carriers of a certain trait) through to adulthood (for adult onset genetic conditions.Genetic counselors A genetic counselor is a medical genetics expert with a Master of Science degree. and review available genetic testing options with the family. nursing. genetics. interpret information about the disorder. In the United States they are certified by the American Board of Genetic Counseling. public health and social work. skilled in translating the complex language of genomic medicine into terms that are easy to understand. and adult genetic centers. analyze inheritance patterns and risks of recurrence.
Genetic counselors educate the patient about their testing options and inform them of their results. the genetic counselor explains the condition to the patient along with recurrence risks in future children. If a prenatal screening or test is abnormal. recurrence and explain the condition itself. A person may also undergo genetic counseling after the birth of a child with a genetic condition. the genetic counselor evaluates the risk of an affected pregnancy. In these instances. educates the patient about these risks and informs the patient of their options. A woman may be referred for genetic counseling if pregnant and undergoing prenatal testing or screening. In all cases of a positive family history for a condition. . the genetic counselor can evaluate risks.Patients Any person may seek out genetic counseling for a condition they may have inherited from their biological parents.
Genetic counselors as support Genetic counselors provide supportive counseling to families. The field of genetic counseling is rapidly expanding and many counselors are taking on "non-traditional roles" which includes working for genetic companies and laboratories. Some counselors also work in administrative capacities. . They serve as educators and resource people for other health care professionals and for the general public. Many engage in research activities related to the field of medical genetics and genetic counseling. serve as patient advocates and refer individuals and families to community or state support services.
The fetus is surrounded by amniotic fluid within the amniotic sac inside the mother's uterus. The fetal cells are removed from the fluid and cultured in the laboratory. intestines and urinary tract. Floating in the amniotic fluid are cells that have washed off the baby's skin. The chromosomes can then be counted and analyzed to give a genetic "snapshot" of the devel . followed by treatment with a hypotonic solution which causes cells to swell. The scientific basis of amniocentesis is straightforward. thin needle is placed through the mother's abdomen and a tablespoon or two of amniotic fluid is removed. is a procedure which is performed by obstetricians to help identify chromosomal and genetic abnormalities which may be present in fetuses. first performed in 1967. Microscopic analysis of the slide will show the chromosomes which have been released from the cells. Cells are treated with a chemical which halts the cell division process.Amniocentesis Amniocentesis. Each of these cells contains a complete set of fetal chromosomes. The swollen cells are then broken open. a long. often by being dropped in a drop of liquid onto a glass slide. In order to collect these cells for amniocentesis.
(ii) appreciate the way heredity contributes to disorder. Moral. For many disorders it is only possible to give precise recurrence risk conditions and also the order of risk. (iv) choose the course of action which seems appropriate to them in view of their risk and the family goals and in accordance with the decision. Empirical risk figures for some genetic disorders are given in Table 1. and (v) make the best possible adjustment to the disorder in the affected family member and/or the risk of recurrence of that disorder1. or the risk of occurrence of a genetic disorder in a family. and the available management. (iii) understand the options for dealing with the risk of recurrence. Should the genetically defective be aborted? Do parents have a right to produce defective children? . Presently. The consultee and the counsellor are now faced with choices that were once left to fate. and the risk of recurrence in specified relatives. ethical and philosophical aspects involved in genetic counselling are now emerging as major issues with the development of the application of various diagnostic techniques as amniocentesis and fetoscopy during pregnancy. if exensive family studies are available. including the diagnosis. the probable course of the disorder. the relief of pain and the maintenance of health. This process involves an attempt by one or more appropriately trained persons (genetic counsellors) to help the individual or family to (i) comprehend the medical facts. genetic counselling goes beyond mere presentations of risk facts and figures to the prevention and cure of disease.Ethical aspects in genetic counselling Genetic counselling is a communication process which deals with human problems associated with the occurrence.
Historically some of the earliest conflicts about PND were on the question of whether abortion was its primary goal. the desire to have a healthy child and to avoid danger to oneself. and (iii) problems related to research on prenatal diagnosis (PND). and (iii) gene therapy2. One group argued that the destruction of certain foetuses was the morally unacceptable goal of PND outweighing the possibility that it might give reassurance to some at-risk parents that their child would (likely) be unaffected. In a broader view. in decreasing order of frequency and difficulty as: (i) abortion choices.3. . the practice contradicted the basic purpose of medicinal science. the remaining 4% people in the high risk category are left with three options: (i) prenatal diagnosis and abortion if required. (ii) problems related to access and distribution of prenatal diagnosis as a service.Ethics in prenatal diagnosis and the subsequent abortions Moral problems arise constantly in social life with the need to resolve conflicts between moral rules and principles to help. the foetus and the society are held to be in conflict. Although 96% of the counselling sessions end well with no or very little chances for the occurrence of the disease. family and society are frequently in conflict. (ii) artificial insemination. The other group contended that since PND was done largely with an intent to abort an affected foetus. regulate and modify desires. For example. the problems of moral choices can be. when genetic risks are high. Abortion choices The choice to abort any pregnancy is a moral problem wherever duties to protect the interests of the woman.
claims that the practice of midtrimester abortion creates a prece-dence for pediatric/euthanasia. selective abortion. Research on PND Research in the context of clinical trials raises ethical issues5. With the involvement of euthenics. after PND present difficulties and dilemmas for several reasons: the high moral status of the woman carrying the foetus at mid-trimester. Lack of financial resources and adequate planning have restricted the distribution of genetic services in almost every country. as well as the pregnant woman. the wide spectrum of severity in some diagnosable genetic disorders. illustrate social euthenics. A randomized clinical trial requires careful consideration because a proven new approach will be withheld by chance. Clinical research in prenatal or perinatal care presents special complexities because the foetus. Euthenics can be applied both medically and socially examples of phenylketourea (PKU) treatment by diet control. while special schools for deaf children. Further. Access to PND service Access to and distribution of PND and genetic services is the central moral problem in medical ethics4. i. etc. and decisions about treatment of handicapped newborns. illustrate medical euthenics. . state-of-the-art of treatment for genetic disorders by modification of the environment to allow the genetically abnormal individual to develop normally and to live a relatively normal life. women who undergo PND belong largely to higher economic groups. from some in order to compare its advantages and disadvantages. Except for Denmark where about 80% of the women who need PND receive it. most of the countries do not meet the true need for services. are the subject of research. the possibility of diagnosing twins where one is affected and the other healthy. the treatability of some disorders.. purified factor VIII for haemophilia A. Abortion choices. abortion choices will become predictably more complicated.e. use of human growth hormone for growth disorders.
the counsellor may emphasize more on probable disorder. depending on his level of personal emotional involvement in the particular case. It is difficult for a counsellor to impart unbiased information because of the consultee s personal and family history such as parental age. This may lead the counsellor to adopt a directive rather than a nondirective approach to genetic counselling7. and the age. The major difference between directive and non-directive counselling is whether or not the counsellor actively participates or helps the consultees to make a decision.9. However. sex and health of the living children. three chances out of four or 75% . Counsellors can be and have been fooled with respect to certain inherited conditions because of improper measurements and observations and/or because of similar symptoms of many genetic diseases.e. In a case where a counsellor feels that a pregnancy might be best for a family he could say to Mr and Mrs X. abortions. Your chances for a healthy birth are very high. and previous training and experience in effectively communicating with the consultee. .Ethical problems faced by the counsellor There cannot be a universal model for genetic counselling because counselling is an understanding of a set of facts according to the counsellors frame of reference. stillborn or dead siblings. but a different social history. In order to communicate effectively. The non-directive approach involves presentation of the facts in an unbiased manner. background in the science of genetics. what to disclose and how to limit the ways in which he can communicate. The counsellor may not change the truth but his tone. leaving the entire responsibility of decision with the consultee. For example. in interpreting the probability even for a single gene disease. i. ethnic background. For family Y with these same inherited defect. and lack of knowledge of genetics and biology2. Directive counselling has a positive influence on the consultee s decision. manner of speech and other facial and body gestures can influence the information transfer. the counsellor probably cannot completely disassociate himself from his own values and present the information in such a way that the recipient is not completely free to make his own judgement8. An equally difficult assignment for the counsellor is presenting his knowledge in an unbiased manner. reproductive history.6. the counsellor. may bias or slant the data. It has been found that the principal obstacles to the effective use of genetic counselling are emotional conflicts. there is only one chance in four that your child would be affected. the counsellor must consider the educational background of the consultee.
that may put him in a situation of ethical dilemma. disputes arise about the significance of laboratory findings especially about the true v/s pseudomosaicism or by possibility of contamination by maternal cells. the counsellor may come across other findings. Should the family be protected from the disruption due to disclosure. findings of questionable or potentially harmful significance. respectively. The issue is whether the disclosure of a finding of probably small significance will result in severe parental anxiety leading to psychological problems. The putative father believes that he must be a carrier. but tests are negative. with the risk of inappropriate decisions about future child bearing being based on false information? Should actual risk be revealed with no explanation? . except in X-linked disorders? Should physicians cooperate with the desire of the parents to know the foetal sex. especially when they have reason to suspect that some parents will misinterpret the indication and seek abortion elsewhere for undesired gender? Occasionally. previous abnormal births. what should the parents be told? Should conflict about findings and interpretations between professionals be revealed to parents? Another example is when sonography suggests an irregularity of the foetal head but the amniotic fluid is normal for alphafetoprotein. Another difficult conflict involves males and females with normal phenotypes who are discovered to have XX or XY chromosomal complement. Should they be told? Will a full biological explanation harm their self-esteem and damage them psychologically? Medical geneticists learn many family secrets. The findings can be made after PND of a recessive disorder and testing the carrier parents or in the context of genetic screening after the birth of an affected infant. When genuine doubt exists and it is too late to do a repeat procedure. Some of these are foetal sex. During counselling. The option left is partial or total deception. etc. since this finding is not related to any disease. Is there a duty to disclose foetal sex to parents. false paternity. such as previous abortions. and occasional false paternity.
Ethical guidance in genetic counselling A proposal for guidelines for PND. and critical tests of what is best for the individuals. (5) Information of XY females and XX males with great care that casts no ambiguity on the patient s social and phenotypic sexual identity. (3) PND that must be provided when parents need the information to prepare themselves for the birth of a possibly affected child. groups and societ . (2) Non-directive counselling. (4) Practitioners need to disclose to the consultee the risks and benefits of each procedure in PND. (7) Medical geneticists to decide which of the disorders warrants the options of prenatal diagnosis and termination of pregnancy. (6) In case putative father is not the biological father of the foetus. the mother to be informed first to avoid social problems and she may be left to take final decision. The proposal assumes that consensus exists among medical geneticists. genetic counselling and screening has been made. and (8) Consequences from the above to be evaluated in terms of basic ethical principles. obstetricians and parents about some key ethical principles and approaches to difficult choices: (1) Parental autonomy in abortion choices.
intended for information regarding the unborn. and we ought to use it in an efficient manner but in a direction. man must deal with his conscious. To decide the correct use.Conclusions Application of science and scientific principles has two faces. Genetic counselling is a practical method of calculating risk figures. individual and social status and the ethics underlying the applications. which our ethics and morality point to. The decision taken by the parents after the counselling session must leave them satisfied instead of placing them in a state of dilemma .
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