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