What regulates the basic ethical principles of medical genetics. A

Regarded as one of the most outstanding recent achievements of science, which allows manipulation of the very nature of man, opens up possibilities that are breathtaking, genetic engineering is not only not free from ethical problems, but it is precisely on it that many people's fears about the possible abuse of scientific achievements are now concentrated. . This broad field includes several lines of research, each of which raises a range of ethical questions. Modern DNA technologies have shed light on the genetic basis of a number of serious diseases (cystic fibrosis, Duchenne muscular dystrophy), on the genetic basis of widespread polygenic diseases (diabetes, osteoporosis, Alzheimer's disease and many others), genes that determine susceptibility to cancer are described. But the possibilities of genetic screening and fetal diagnosis immediately raise a number of moral problems.

Since not all diagnosed hereditary diseases can be cured, the diagnosis can easily turn into a sentence. Is the patient ready, from a moral and psychological point of view, for the future, the veil of secrecy over which is opened by knowledge of the inevitability of a hereditary disease? In what cases should the patient, his relatives, relatives and trusted persons be informed about the detected genetic defects, because some of them may not appear at all? On the other hand, is it worth dooming a person to alarming uncertainty (many genetic predictions are very probabilistic) and adding him to a risk group, for example, in relation to cancer?

An even more difficult issue is prenatal diagnosis of genetic abnormalities of the fetus. As soon as it becomes a routine procedure, which we are rapidly approaching, the question immediately arises of the appropriateness of recommending termination of pregnancy in cases where a hereditary disease or a predisposition to it is established. Genetic information will open up to people an unprecedented opportunity to know the "biological" future and plan the fate of the child in accordance with it. But the same information can be used by "third" parties - the police, insurance companies, employers. Who will have the right to access data on a person's hereditary predisposition to a particular deviation (for example, alcoholism)?

Another aspect of the problem corresponds to the line of scientific research into gene therapy of somatic cells. Allowed and tested since 1990, it involves the correction of genetic defects in the somatic cells of the patient. The goal of therapy is to modify a certain population of cells and eliminate the specific disease of patients, that is, the main and completely medical ethics line for a cure is preserved here. The moral issues that accompany this approach include the general principles of working with human cells. However, there are also issues related to the high cost of such treatment, the selection of patients, the lack of resources, that is, the already familiar range of problems related to ensuring medical justice. Also, of course, it is necessary to balance the planned level of benefit and possible risk, to assess the safety of the proposed methods in the long term. In addition, if a certain range of diseases cannot be cured even with the use of the most modern technologies, patients should not feel condemned, communities and organizations are needed to support such people and help them.

The situation is more complicated if genetic therapy is performed on not only somatic cells of the human body (functional cells of various organs and tissues that do not transmit information from one generation to another), but reproductive cells that carry vital hereditary information. Germline genetic therapy involves the introduction of a gene into the germline (sperm, egg or embryo), and therefore the altered genetic information will be transmitted not only to this person, but to his descendants. Experiments conducted on animals show a high risk of such procedures, since gene expression can occur in inappropriate tissues, phases of normal development of the embryo may suffer, and there may be negative consequences, which, moreover, are inherited.

One of the actively discussed problems, which also reflects the spirit of the times, is the Human Genome Project. Started in 1990 as a decade-long program, the project was effectively completed by 2003. Its goal was to map and analyze the DNA in all human chromosomes, which is basically done, although there are opinions that the final transcript will not be completed until 2020. This deciphering now bears the name of proteomics, the goal of which is to catalog and analyze every protein in the human body, a goal also colossal in scope and with possible dizzying consequences. Both projects promise to improve our lives and health by identifying the genetic causes of a variety of diseases, from schizophrenia and Alzheimer's disease to diabetes and hypertension. There are pharmaceutical prospects for the development of methods for diagnosing, and then influencing the "spoiled" gene, and possibly even the individual use of drugs, taking into account the genetic characteristics of each patient. However, this project raises a number of ethical issues.

They begin with the huge cost of the project (the sum of all funds raised, according to conservative estimates, can reach 3 billion dollars), which reminds us of the need to identify sources of funding. If they are private, the question immediately arises of who and for what purposes will dispose of the information received. If the funding is public, then it is necessary to understand what amount of funds for its purposes is possible and justified (the cost of the project, as can be seen from the figures, is comparable with the annual budget of some countries). Then, of course, the question arises of the cost of the subsequent diagnostic examination of patients and, moreover, the cost of measures for the therapeutic effect on the patient's DNA.

All of these technologies bring us back, to be honest, to the problem of eugenics, already old enough for mankind, only at a new level. Recall that a distinction is made between negative and positive eugenics. The first implies the elimination of previously defective individuals from the population, now they are carriers of genes, usually at the stage of fetal development. Negative genetics is not the result of genetic manipulation, but only screening, the selection of healthy individuals, usually by aborting the fetuses that are to be born. It is clear that the issue of its admission is primarily related to the attitude towards abortion, which is very ambiguous, as we wrote above. In addition, an important question about the indications for such an abortion: what to exclude and what to allow for abortion? Take measures only in the presence of severe defects, either there will be no number of such indications, and in this case there is a danger of including completely insignificant points, or, which is completely unacceptable as a manifestation of discrimination, the sex of the unborn child will be taken into account.

Positive eugenics, that is, changes in the genotype, generates a lot of enthusiasm, it's amazing how many people want to improve human nature! It is not for nothing that at all times in history there have been concepts aimed at improving a person (we can recall Plato's ideas about the cultivation of desirable human qualities, neo-Darwinism with its desire to promote the development of the elect). And although no one has forgotten about the monstrous eugenic experiments of the 30s in Germany, the concept of eugenics is alive, only striving to be realized at a new level. Modern technologies do not yet allow to radically change the qualities of the future human, but in connection with the technologies of the future, there are concerns about the possibility of irreversible consequences that could affect the entire genetic fund of the Homo sapiens species. Yes, it's really difficult to do that now, especially since important human traits such as intelligence are controlled by not one, but 10 to 100 genes, as well as the environment. Genetic engineering seduces with truly miraculous, so far only theoretical, possibilities, from preventing the transmission of hereditary diseases, eliminating disease-causing genes to improving the properties of the body at the gene level - improving memory, increasing the level of intelligence, physical endurance, changing external data, etc. “Child on demand” is the ultimate dream of supporters of genetic modeling. How necessary and morally justified is the practice of genetic improvement? If this practice becomes part of reality, then who and on what grounds will decide what stock of memory and level of intelligence should be “programmed”? Obviously, whoever does this and on what grounds, he grossly violates the freedom of choice of the individual, opens up a vast field for abuse, and therefore positive eugenics is inherently unethical. Discussing these questions theoretically for the time being, we remember that the current pace of development of science can raise them surprisingly quickly. There is no single opinion and approach to their solution, the need to develop it serves as an incentive for the development of bioethics.

Already has a significant impact on many areas of medicine. In the future, the knowledge gained from the Human Genome Project will change clinical medicine as profoundly as it did with the understanding that the chemical transformations that occur in the test tube and in the cells of the human body are the same.

We all, as health professionals and society at large, need to make sure that the knowledge and technology of human genetics is used responsibly, fairly and humanely.

In any discussion ethical issues in medicine, as a rule, take into account four main principles:
respect for individuality (protection of individual rights to control medical care, access to medical information, freedom from coercion),
usefulness (benefit to the patient),
exclusion of harm (primum non nocere: "first of all, do no harm"),
and equity (ensuring that all people receive equal and sufficient care). Difficult ethical questions arise when these principles are in conflict with each other. The role of ethical work in the interaction of society and medical genetics is to weigh and balance conflicting claims based on one or more of these basic principles.

In this article, we will focus on some ethical dilemmas emerging in medical genetics, dilemmas that are becoming more difficult and complex as research in genetics and genomics expands our knowledge. The list of issues discussed here is by no means complete, and they are not necessarily independent of each other.

Major Ethical Issues in Medical Genetics:
I. Genetic examination:
- Prenatal diagnosis, especially non-pathological signs or sex
- Identification in asymptomatic adults of genotypes predisposing to late-onset disease
- Identification in asymptomatic children of genotypes predisposing to diseases with a debut in adulthood

II. Secrecy of genetic information:
- Duty and right to warn
- Misuse of genetic information
- Employment discrimination based on worker genotype
- Discrimination in life and health insurance based on genotype

III. genetic screening:
- Damage to reputation
- Secrecy
- Coercion

Patients with hereditary diseases and their families constitute a large group of the population, in relation to which there are many ethical questions that arise when providing them with medical care. All elements of medical deontology and universal morality, formulated by society since the time of Hippocrates, still remain valid for this group of patients. However, the peculiar nature of the course of most hereditary diseases, namely: their lifespan, progression, severity, and especially their ability to be transmitted from generation to generation, pose specific ethical questions for doctors and society against the backdrop of the latest advances in human genetics. The essence of success is that they have provided such genetic technologies that allow you to interfere in the human genome. Not everything in the development of rapid scientific progress lends itself immediately to legislative or legal regulation to protect the individual. Much remains to be decided at the level of the moral positions of society.

Prerequisites for the development of legal and legislative regulations of any nature are the moral norms of society. Therefore, a bioethical consideration of new scientific advances is the first step towards preventing the negative consequences of scientific advances. This position is especially clearly seen in the example of rapidly developing disciplines, which undoubtedly include genetics in all its diversity.

The need to understand the ethical aspects of the use of new technologies has always existed. The difference of the modern period is that the speed of implementation of an idea or scientific development has increased dramatically. For example, only 3 years have passed from the birth of the idea of ​​prenatal diagnosis of hereditary diseases to its widespread use in clinical medicine.

The formation of legal provisions for biomedical science and practical medicine based on the moral principles of society cannot be separated from the formation of legal awareness in different social groups (scientists, doctors, patients, politicians, etc.).

The main result of bioethical developments is the timely discussion of moral and legal problems that arise in new areas of science and practice. On the basis of discussions and scientific research, national and international laws, recommendations, rules are developed - both for conducting research and for the practical implementation of their results.

In human genetics, there is a clear connection between scientific research and ethical issues, as well as the dependence of scientific research on the ethical meaning of their final results. Genetics has stepped forward so much that sooner or later a person will be able to determine his biological fate. In this regard, the use of all the potential possibilities of medical genetics is real only with strict observance of ethical standards.

The progress of medical genetics has raised ethical questions in relation to:

Genetic engineering (gene diagnostics and gene therapy);

Development of methods for early diagnosis of hereditary diseases (see the article by VL Izhevskaya "Ethical and legal aspects of genetic testing and screening" on CD);

New opportunities for medical genetic counseling (assessment of heterozygous conditions, in vitro fertilization, etc.);

Prenatal and pre-implantation diagnosis of hereditary diseases (see the article "Ethical aspects of prenatal diagnosis" on CD);

Protection of human heredity from the damaging effects of new environmental factors.

Since medical genetics deals with a sick person or his family, it must be based on principles developed and tested over the centuries. medical deontology. However, in modern conditions this is not enough, because new questions arise in bioethics:

The introduction of fundamentally new medical and genetic technologies (artificial insemination, surrogate motherhood, prenatal diagnosis, genetic testing of a donor, gene therapy) has become widespread in medical practice;

Medical genetic assistance and genetic technologies are increasingly being commercialized both in the West and in our country;

New forms of relationship between a doctor and a patient have appeared, societies of patients and their parents are being formed (with Down's disease, cystic fibrosis, phenylketonuria, etc.);

It required ethical and legal regulation of scientific research, their directions and results, since they affect the interests of society (additional funding, the threat of war, etc.).

Most of the ethical issues of modern human genetics can be resolved within the framework of 4 principles (do good, do no harm, autonomy of the individual, justice) and 3 rules (truthfulness, confidentiality, informed consent).

The principle of "do good" changed in medical genetics for 100 years, depending on the moral foundations of society and the progress of genetic knowledge.

The application of this principle in practice faces a contradiction between the good of a particular person and the good of a group of people or society as a whole. On this basis, eugenic programs of forcible sterilization of patients with mental and physical disabilities arose in the USA, Denmark, Sweden, Germany and other countries. The main justification for such activities was the priority of the common good of the nation over the individual. This resulted in more than 100,000 people being sterilized in the US as a result of the eugenics program. In the Scandinavian countries, the proportion of sterilized people in the population was even higher than in the United States. Over 350,000 people were sterilized in Germany.

Modern moral principles oblige to seek a compromise between the interests of society and the individual. A number of international documents establish the norm according to which The interests of the patient are placed above the interests of society.

Observing the principle of "do good" not in all cases it is possible to determine what is good for the patient and what is good for his family. If earlier the right to decide belonged to a geneticist (for example, directive counseling was considered the norm), then the modern morality of society has fundamentally changed the situation. The decision is made by the patient together with his family, and non-directive counseling has become the norm for a geneticist.

Do no harm principle prohibits research and therapeutic activities associated with an unjustified risk of adverse consequences for the patient. However, at the stage of clinical trials

The moral responsibility of the doctor occupies a greater place than the legal one. Physicians and biologists encountered the principle of "do no harm" when conducting clinical trials of gene therapy methods. A way out was found in the creation of bioethical committees in institutions where such studies or trials are carried out.

The principle of individual autonomy is a recognition of the freedom and dignity of patients or participants in an experiment. They should be respected as owners of their own life and health. No intervention can be carried out without their consent. A striking example of the violation of the principle of individual autonomy are medical experiments in Nazi Germany on prisoners of war. As applied to medical genetics, this principle can be easily violated by a doctor or researcher when transferring DNA samples on request, preserving and multiplying cells, and so on. In modern genetics, the principle of individual autonomy should extend to the descendants of the subject to the same extent as the right to inherit property is preserved.

The principle of justice takes into account the equal availability of resources for medical genetic care through the public health system, on the one hand, and the moral justification of the inequality in the level of medical genetic care in the private health sector, due to market relations, on the other. The implementation of these two approaches in its pure form proved to be impossible. Now there is a search for the optimal combination of both models of application of the principle of justice. The principle of justice refers to the distribution of social resources between those already living and representatives of future generations. From a medical genetic point of view, society must ensure that the health of the offspring is taken care of. It is assumed that society or the family, by limiting their resources, will invest them in the health of grandchildren and great-grandchildren. Generational selfishness is possible here, i.e. taking resources from offspring. However, it is unlikely that the principle of unconditional priority of the rights and interests of a person of the future over the rights and interests of already living people will be accepted.

Along with the 4 principles of modern bioethics, 3 more rules are distinguished.

First rule - truth rule. The moral duty of the doctor and scientist obliges to tell the truth to patients or participants in the experiment. Without this, they cannot make the right decision themselves. Not only one person is involved in the genetic examination, but also members of his family, which creates ethically difficult situations for

geneticist. For example, should a geneticist tell the truth when a discrepancy between biological and passport paternity is found. Trust between doctor and patient can only be maintained by maintaining a mutually truthful relationship between them. If the patient hides information about his pedigree, this will certainly affect the doctor's conclusion.

The second rule is privacy rule. At first glance, it is easy to follow, but this is not always the case. The deeper the patient is examined (for example, at the gene level), the greater the difficulty in complying with this rule. For example, disclosing information about a patient's genetic characteristics may harm him (denial of a job, refusal of a forthcoming marriage). The confidentiality rule requires the full consent of patients to the transfer of information obtained during genetic testing. The most difficult cases of compliance with the confidentiality rule are created by the study of the pedigree. For example, can a patient get information from a doctor about the genetic health of their relatives, if they do not agree to this, can relatives find out about the patient's genetic diagnosis. In both cases, it may affect the moral interests of each side.

Third rule - informed consent rule. In many ways, it has already entered the legal and legal norms governing the conduct of medical tests and interventions. Any genetic examination must be carried out with the consent of the patient or his legal representatives on the basis of sufficient information, expressed in a form understandable to the patient.

Compliance with 4 principles and 3 rules of bioethics in modern conditions is often hampered by the diversity of emerging situations. For example, what decision should be made if respect for confidentiality does not coincide with respect for the principle of "do good"; what should the doctor and administration of the enterprise do if a good employee has a genetic predisposition to an occupational disease (dismiss him in the interests of his future health or leave him at work in the interests of the enterprise).

From the above examples, it follows that all the principles and rules of bioethics cannot be observed absolutely precisely and unambiguously. Each situation requires an individual assessment. To make a decision, a doctor in ethically difficult cases requires the support or opinion of the ethical committee at the institution.

As a specific example of ethical medical genetic practice, here are the main provisions of the "Guidelines for Genetic Screening" in Japan.

Genetic counseling should be conducted by a geneticist with sufficient knowledge and experience in medical genetics (“do no harm”).

Consulting geneticists should strive to provide patients with the most up-to-date and accurate information. It includes data on the prevalence of the disease, its etiology and genetic prognosis, as well as information on genetic tests such as carrier determination, prenatal diagnosis, preclinical diagnosis, and diagnosis of disease predisposition. Physicians should be aware that within the same hereditary disease there may be different genotypes, phenotypes, prognoses, responses to therapy, etc. ("do no harm").

When explaining all processes, the consulting geneticist should try to use simple and understandable words. The patient can come to the appointment with one or more accompanying persons, if he wants to and/or if he prefers the presence of a third person. All explanations should be recorded in a log book and kept for a certain period of time (“personal autonomy”).

When counseling prior to genetic testing, the counselor must provide the patient with accurate information regarding the purpose, methodology, accuracy, and especially the limitations of testing (beyond the requirements of conventional genetic counseling). Written information about the disease must be provided to ensure that there are no omissions (“truthfulness”).

The right of the patient and his family to know and the right not to know the results must be equally respected. Therefore, genetic counseling and genetic testing using the patient's personal data should be based on an independent decision made by the person being tested. The consultant should not force any decision. The patient may refuse to be tested, and he needs to be explained that he will not be harmed if he refuses, but this is bad for the prognosis. Especially for preclinical

For the diagnosis of genetic diseases beginning in adulthood, multiple consultations are recommended before any tests are ordered, and the final decision must be made by the patient himself ("informed consent", "confidentiality", "personal autonomy").

Genetic testing should only be performed after obtaining informed consent (“informed consent”).

A doctor may refuse to test a patient if it is contrary to social or ethical norms or the principles of the doctor himself. If there is personal disagreement, then the doctor can refer the patient to other medical institutions (“personal autonomy”, “do good”).

If the patient is unable to make decisions for himself and his representative does it for him, then the decision regarding genetic testing should protect the interests of the patient. Therefore, testing of children for adult-onset genetic diseases with no effective treatment or prevention (do no harm) should be avoided.

A patient being tested for predisposition to cancer or multifactorial diseases should be explained that the clinical features of the disease can vary from person to person and depend on penetrance, and that even in the absence of a predisposition genotype, there is a possibility of disease occurrence. You should tell him about the medical measures that may be needed after testing (“do no harm”).

Genetic testing should only be carried out using generally accepted methods. Laboratories or organizations providing research must meet established standards and always strive to improve diagnostic accuracy (“do no harm”).

The results of genetic testing should be explained in an accessible way. Even if the testing is unsuccessful or the results are questionable, the situation must be explained to the patient (“truthfulness”).

If it seems to the consulting geneticist that it is better to communicate the test results to the patient in the presence of a third party,

which the patient trusts, the geneticist should offer it to the patient. The patient may stop the test at any time and may refuse to receive a result. In addition, the patient should never feel harmed in making this decision (“personal autonomy”).

Post-test counseling should be mandatory; it should go on for as long as necessary. In addition, medical support should be prepared, including psychological and social (“do good”).

All personal genetic information must remain confidential and must not be disclosed to another person unless the patient allows it. Care must be taken that this information is not used as a source of discrimination ("confidentiality").

If the test results can be used to prevent the development of the disease or to treat it in the patient's family members, he is asked to share the results with his family members so that they too can be tested (for not only monogenic, but also multifactorial diseases) ("confidentiality"). If the patient refuses to share information with their family and if this information can actually prevent the family from getting sick, then at the request of the family, it is ethically acceptable to disclose genetic information (only for diagnosis, prevention and treatment) (“do good”). However, the decision whether or not to share information about test results with the patient's family members should be made by the ethics committee, not by the consultant.

Samples for genetic testing should be retained, but should not be used in other studies (other than the one for which they were originally collected). If the sample may be of interest for future research, written consent from the patient should be obtained, to which it should be explained that all personally identifiable information will be destroyed when the sample is stored (“confidentiality”, “informed consent”).

Invasive prenatal testing/diagnosis procedures (amniocentesis, chorionic villus sampling) are performed at the request of the pregnant woman. The management of the patient after diagnosis is entirely determined by her desire; genetic consultant doctor

should not take part in the decision. Regardless of the decision made, the patient and her family should be provided with psychological and social support (at the moment, the creation of such support services is urgently required) (“personal autonomy”). Rules, principles, guidelines on general or specific ethical issues of medical genetics are approved not only by the Japanese Society of Human Genetics, but also by genetic societies of other countries, and are also considered by the WHO expert committee. All documents reflect the recommendations of the ethical plan. They have no legislative or legal force.

More binding is the 1996 “Convention for the Protection of Human Rights and Dignity with regard to the Use of Biology and Medicine”, adopted by the Parliamentary Assembly of the Council of Europe in 1996, briefly called the Convention on Human Rights and Biomedicine. In this Convention, one section is devoted to questions of medical genetics. We present it in full. Part VI. The human genome.Article 11 (Prohibition of discrimination).

Any form of discrimination based on the genetic heritage of a person is prohibited.

Article 12 (Genetic testing).

Tests for the presence of a genetic disease or for the presence of a genetic predisposition to a particular disease may only be carried out for the purposes of public health or related medical science and subject to the proper advice of a geneticist.

Article 13 (Interference with the human genome).

Intervention in the human genome aimed at its modification can be carried out only for preventive, therapeutic or diagnostic purposes and only on condition that such intervention is not aimed at changing the genome of the heirs of this person.

Procreation assisted medical technology should not be used to select the sex of an unborn child, unless it is done to prevent that child from inheriting a sex-linked disease.

It should be noted that modern bioethics not only resolves the medical issues discussed above, but sometimes also resolves scientific conflicts, i.e. the moral aspects of the design of scientific research, their goals, as well as the plan for the implementation of scientific achievements for the benefit of society as a whole and each person individually. The community of scientists since the time of Galileo has affirmed and defended the ideals of freedom of scientific research, as well as independence in making fundamental decisions. However, in recent decades, mainly due to a sharp increase in financial contributions to science, it has become necessary to evaluate the effectiveness of these contributions and rethink the system of control of scientific activity by taxpayers. However, the control system is likely to be bureaucratic, incompetent and hinder the development of science. The scientific community began to create such mechanisms of interaction with society and the state that show the whole society the desire of scientists to foresee and prevent the consequences of new scientific discoveries and new technologies that are unfavorable from the point of view of society as a whole, as well as the consent of scientists to the social and ethical regulation of their activities. Based on this, it is possible to formulate the principles of ethical regulation of scientific research: society should not restrict the freedom of science, and the scientific community should ensure the protection of the rights and interests of people.

Medical genetic services in the United States are highly diverse. This reflects the general pluralistic atmosphere of American society. Most clinical geneticists in the US are affiliated with the American Society for Human Genetics, which has over 3,000 members. There is also a National Society for Genetic Counseling with about 700 members. There are 127 medical schools in the country that train mid-level specialists to work in the field of medical genetics.

The expediency of prenatal diagnostics is due to the increase in infant mortality caused by congenital developmental anomalies. If this figure in 1915. was 6.4%, then in 1990. - about 18%. In all cases, when the doctor finds it necessary, he will definitely refer the woman for prenatal diagnosis. Physicians who fail to offer the client this procedure, if there are reasons, may be subject to legal liability. For example, in 1994 a Virginia court ordered a doctor to support a child with Down syndrome for life because the doctor did not offer the client timely AMNICENTHESIS.

An increasing number of US women are turning to prenatal diagnosis. If in 1979 in the state of New York, 29% of women aged 35 years and over were examined, then in 1990 - more than 40%. Moreover, the main reasons for conducting AMNIOCENTESIS are the following circumstances:

the age of the pregnant woman exceeds 35 years;

a previous pregnancy resulted in the birth of a child with chromosomal abnormalities;

the presence of chromosomal abnormalities in any of the parents;

a history of spontaneous abortion;

the presence in a woman of male relatives with hereditary diseases linked to the X chromosome;

parents are at high risk with hereditary (and detectable) metabolic defects;

increased risk of dealing with a child with neurological developmental defects.

However, as noted by the Presidential Commission on Ethical Problems in Medicine, Biomedical and Behavioral Research: “Value analysis should be seen primarily as a technical tool for use within a particular ethical frame of reference, and not as a way to solve complex ethical problems.”

In 1990 in the US, there were about 1,600,000 legal abortions, or 425 for every 1,000 live births. Only 1% of abortions were carried out 20 weeks after conception. About 93% of women, having discovered anomalies in the development of the fetus, resorted to abortion.

There is high agreement among US respondents regarding the fields of genetic counseling. This goal is to properly inform the individual and thereby increase his ability to make an independent decision. The Presidential Commission on the Study of Ethical Issues in Medicine... expressed support for a non-directive style of consultation.

This Presidential Commission also defined conditions that would allow geneticists to make decisions, increasing the principle of maintaining confidentiality in the interests of third parties: These conditions are as follows:

efforts to obtain the consent of the client to disclose information to third parties have not been successful;

it is highly likely that the disclosure of information will reduce the harm that may be caused to these individuals;

in case of sufficiently large expected damage;

when every effort has been made to disclose only that part of the information that is necessary for diagnosis and (or) effective therapy. For example, members of the Presidential Commission specifically considered a case related to the identification of an XV karyotype in a client. They believe that the information received should be communicated to the client in the most sparing form for her psyche. They decided that the client should be told that "she cannot have a child due to the underdevelopment of the reproductive organs and that surgical removal of their rudiments will significantly reduce the client's chance of developing cancer."

The vast majority of US geneticists consider it necessary to provide the client with all the information obtained during prenatal diagnosis. They also believe that a woman who is a principled opponent of abortion has equal rights with others to conduct prenatal diagnostics. The pathological anxiety of a 25-year-old woman, from their point of view, is a sufficient basis for prenatal diagnosis. However, there was no agreement among US respondents on the advisability of prenatal diagnosis to determine the sex of the fetus.

Until now, mass examinations in the United States have been predominantly newborns, primarily to identify diseases that can be treated in them. In a number of cases, certain ethnic groups of the population predisposed to a particular hereditary disease were subjected to screening on a voluntary basis (for example, the identification of carriers of Tay-Sachs disease among Ashkenazi Jews). Since 1986 In the state of California, a universal determination of alpha-fetoprotein in the blood of pregnant women has begun. According to members of the Presidential Commission, the principle of voluntariness in the presence of mass diseases may not be observed in cases where:

we are talking about identifying severe injuries in persons, especially children, who are not able to protect their interests on their own, through the use of reliable and non-hazardous procedures;

when the implementation of similar programs on a voluntary basis did not lead to positive results.

Members of the Presidential Commission believe that mass screening of the population and the development of tests for a number of widespread diseases with a pronounced genetic component allows people at high risk, by changing their lifestyle in advance, to reduce the likelihood of developing the disease. Yes, in 1992. in the USA, 32.5 million people were examined (including tests using DBC - samples) per year. Moreover, the cost of this screening operation amounted to about 1000 million dollars. in a year.

Members of the Presidential Commission believe that screening should be carried out mainly on a voluntary basis, and representatives of insurance companies and employers should in no case be allowed access to the information received during screening.

A survey of 295 US geneticists revealed a strong consensus on the ethical aspect in 9 out of 14 analyzed cases. So, they stood for:

concealment of cases of false paternity;

disclosure of the results of laboratory tests in all cases;

granting the right of independent decision to carriers of severe hereditary diseases that are not detected prenatally;

granting the right to prenatal diagnosis to persons who reject abortion;

the right to conduct prenatal diagnostics in connection with the pathological anxiety of the mother;

the expediency of non-directive counseling in case of detection of hereditary, but negatively mild diseases in the fetus.

There was no consensus among geneticists for 5 of the 14 proposed cases:

53% of respondents would report a client's disease with HUNTINGTON's chorea to his (her) relatives;

54% of respondents would report the disease to relatives of a client with hemophilia;

62% would violate confidentiality if a parent had a balanced translocation;

64% of respondents would reveal the truth to a client if she had an XV karyotype;

34% of the respondents would agree to prenatal diagnostics for gender control, and 28% would agree, but would send the couple to another institution.

Most of the genetic respondents rejected the proposal to survey certain ethnic groups as leading to discrimination. Geneticists were more inclined to maintain confidentiality when a client was diagnosed with preclinical signs of HUNTINGTON's chorea than when the disease was already swaying, arguing that relatives had the opportunity to conduct appropriate tests on their own initiative.

US geneticists believe that in the next 10-15 years they will be most concerned about the problems caused by the following circumstances:

the development of new treatments for genetic diseases, including in utero therapy, organ transplantation and molecular genetics;

screening of carriers of genetic diseases;

the need to increase the payment of specialists for the medical genetic services they provide to the population;

assessment of the damage caused to the future generation by the growing pollution of the environment;

search for new sources of resources;

screening on a genetic basis of persons predisposed to cancer and cardiovascular diseases;

conducting research on human embryos, ZYGOTES and fetuses;

workplace genetic screening;

discussion of eugenic aspects of medical genetics;

development of methods for preselecting the sex of the child.

Respondents - geneticists in the United States differ markedly from geneticists in other countries in their positive attitude towards carriage (surrogate motherhood), as well as the right to select the sex of the child and their attitude towards the activities of private medical genetic laboratories.

67% of US geneticists consider surrogacy as a positive solution to the problem of motherhood. 62% of American geneticists recognize the right to prenatal diagnosis to select the sex of the child. Until recently, the geneticists of only two other countries, India and Hungary, agreed with this.

In the US, there are three population groups that are most interested in the development of medical genetics:

persons affected by certain diseases and their relatives;

non-professional voluntary associations with an interest in the study of genetic diseases;

professional organizations.

In the US, there are about 150 national voluntary organizations to help patients with genetic diseases and their parents. There are also 250 national voluntary organizations to help motherhood and childhood, as well as a powerful movement in defense of the rights of people with disabilities.

Unresolved issues in the United States include the issue of the permissibility or limits of mandatory screening of the population and the issue of abortion. Women in the US are only eligible for abortion until they reach the second trimester (up to 3 months) of pregnancy.

However, in some states, the abortion is paid for by the client. The country's public is in favor of recognizing a woman's right to an abortion, in case of detection of fetal anomalies. Currently, 47 states have mandated newborn screening, at least under certain circumstances, and only three states (the District of Columbia, Maryland, and North Carolina) have newborn screening on a voluntary basis.

When studying the effectiveness of a genetic service system, categories such as "diagnosis", "degree of risk" are usually used, as well as such a criterion - to what extent the activity of a consultant - genetics changes the plans of the family and its behavior. The most extensive study of the effectiveness of the genetic maintenance system in the primary prevention of hereditary diseases was carried out in the USA by Sorenson et al. The scale of this study is evidenced by the following figures: 1369 consultations were analyzed, conducted by 205 geneticists from 47 clinics in the country. An analysis of the data obtained showed that immediately after the completion of the consultation, 54% of clients cannot indicate the degree of the risk of the disease they reported, and 40% of the clients - the diagnosis they reported. This indicates how difficult it is to establish a reliable ethical contact between the client and the genetic consultant. Moreover, the degree of understanding by the client of their problems increased in proportion to the level of income of the client. Significant differences were also revealed in the subjective assessment by the consultant and the client of the significance of a particular level of risk. The risk of disease in 7-19% of geneticists was considered moderate, in 20-24% - high, and above 25% - very high. For clients, less than 10% risk was considered low, 10–24% low or moderate, and 15–20% moderate risk. Below 10% risk, clients were convinced that the next child was likely to be "normal", and only at 25% risk did they lose that confidence. The consultant is not always able to influence the reproductive plans of the family. 56% of clients interviewed six months after the consultation reported that their reproductive plans had not changed. Half of the clients who said counseling changed their plans didn't actually change them. As a rule, consultation at all levels of risk of any disease, including those that are not amenable to therapy, only strengthens the intention of the family to acquire offspring. This provision remains true for diseases that are not diagnosed prenatally. With a risk level of 10% before the consultation, 52% of clients intended to have a child, and after it - 60%, with a risk of 11% and above - 27% before the consultation and 42% after it. In general, the effectiveness of counseling, if assessed from the standpoint of the principle of an informed decision, is highest in the case of sufficiently educated representatives of the middle class.

The public reacts negatively to government attempts to get their hands on information about the health status of individual citizens.

It is more difficult to assess the public's attitude towards attempts to obtain such information by employers and especially by insurance companies. Criticism of these attempts is usually carried out under the banner of combating discrimination against persons susceptible to genetic diseases. Currently, three states (Florida, Louisiana, New Jersey) have passed laws prohibiting discrimination in education, insurance, and employment based on genetic diagnosis.

The main task of medical genetic research in the near future is the decoding of the human genome, carried out by US geneticists together with scientists from Japan, Great Britain and Germany, which will provide doctors with the information necessary for the purposes of diagnostics and gene therapy. Over a shorter time interval, the main task of medical genetics is to identify preclinical signs of an incipient hereditary disease and predisposition factors for cancer and cardiovascular diseases.

1. The purpose and specifics of the moral problems of genetics.

2. Ethical problems of the project "Human Genome".

3. Moral aspects of gene therapy and counseling.

4. Ethical dilemmas of eugenics.

Literature

1. Siluyanova I.V. Bioethics in Russia: values ​​and laws. - M., 1997. - S. 122-137.

2. Biomedical ethics // Ed. IN AND. Pokrovsky, Yu.M. Lopukhin. - M., 1999. - S. 105-113, 181-196.

3. Ivanyushkin A.Ya. etc. Introduction to bioethics. - M., 1998. - S. 241-264.

4. Baev A. Human genome. Ethics and legal problems // Man. - 1995, No. 2.

5. Yorysh A. Legal and ethical problems of human cloning. - M., 1998.

6. Siluyanova I. Creation of human storerooms is immoral. -
M., 1997.

Topics of abstracts and reports

1. Legal aspects of genetics.

2. Prospects for cloning.

3. Moral problems of the implementation of the project "Human Genome".

4. Opportunities and dangers of genetics.

The purpose and specifics of the moral problems of genetics

Modern human genetics is an intensively developing field of knowledge closely related to the practice of medicine. This feature of genetics contributes to the emergence of ever new moral and legal problems that urgently require discussion and solution.

In 1995, the World Health Organization (WHO) circulated a document called the Summary of the Ethical Aspects of Medical Genetics. The 'Summary' contains the main points of the larger document 'The WHO Human Genetics Programme'.

These documents summarize international experience on ethical issues arising in research and clinical practice in the field of genetic pathology in connection with the introduction of modern bio- and genomic technologies into healthcare. Since this concerns the ethical regulation of the professional activities of doctors, all issues in these documents are considered in the trinity of their genetic, legal and social aspects. .

The goal of medical geneticsthe document says are the diagnosis, treatment and prevention of hereditary diseases. Scientific research is carried out to achieve this goal. Medical genetic practice should be based on the following general ethical principles:

Respect for the individual: the physician's duty to respect the self-determination and choice of an autonomous individual and the protection of persons with limited legal capacity (eg, children, persons with mental retardation, mental illnesses); the principle of respect for the individual should be the basis of any relationship between a professional geneticist and a consultant;

Benefit: obligatory ensuring the well-being of the individual, acting in his interests and maximizing the possible benefits;

Non-harm: the obligation to reduce and, if possible, eliminate harm caused to the person;

Balance: the need to balance the risk of the actions taken so that benefit is more likely than harm to patients and their families;

Equity: fair distribution of benefits and burdens.

Similar documents have been developed and are being developed by other international organizations. Many doctors, geneticists and lawyers talk about the need to develop a special medical genetic code that would regulate the respective rights, responsibilities and standards of conduct of the parties in these matters.

One of essential features of the ethical problems of medical genetics is that hereditary diseases concern not only the individual suffering from them. These diseases are transmitted to descendants, so the problems that arise are fundamentally family, tribal in nature.

The second feature There is a dramatic gap between success in diagnosing hereditary diseases and the ability to treat them. Very few diseases can be treated successfully, so the doctor's actions are limited to their identification and preventive measures. This causes the emergence of an unusual problem for medicine - the ethics of diagnosing a particular hereditary pathology if there is no way to treat it. As practice shows, the vast majority of people at risk for hereditary diseases do not want to be diagnosed, do not want to know their future, because they are not able to change it.

The third specific feature of medical genetics is that the main object of its attention is future generations, and material costs are borne by the current generation. This requires a special spiritual climate in society, when the majority of fellow citizens are able to understand their responsibility for the health and life of those who are yet to be born. If there is such an understanding, it is possible to rationally solve the problem of a fair distribution of social resources between the living generation and the one that will replace it.

Ethical Issues of the Human Genome Project

First developers the human genome project foresaw the inevitability of ethical, legal and social problems and formulated ethical objectives of the Project:

Specify and predict the consequences of mapping the human genome;

Stimulate public discussion of the issue;

To develop options for regulation that ensure the use of information in the interests of the individual and society.

There are three areas in which it is necessary to analyze the socio-ethical consequences of the "Human Genome" project - this is an individual and a family, society, a person's philosophical ideas about himself . At the individual and family level one example of problems that may arise is the following. In the near future, thousands of new methods of genetic diagnostics will be developed, and each person will be able to have unique information about their genetic characteristics. But at the same time, a natural asymmetry of the rights to own and dispose of such "property" arises. Parents, as legal representatives of minors, have the right to access their genetic information. However, the law does not provide for the right of children to possess genetic information about their parents. Since the child's genome was received partly from the father and partly from the mother, the restriction on the right to access the genetic information of the parents means that it is sometimes impossible to obtain vital information about oneself. This is a clear form of injustice in relations between generations within the family. We will have to expand the scope of the traditional concepts of "confidentiality", "inviolability of private life", "personal autonomy". They should now refer not only to the individual, but also to the family, the clan. The importance of family ties, mutual responsibility, justice, decency of all relatives is growing. Only intra-family solidarity can protect each family member from unwanted intrusion of interested persons into their "genetic secrets". These can be employers and their agents, insurance companies, government agencies, and others.

At the level of society First of all, there is a need for a qualitative improvement in the general biological and, especially, genetic education of the population. Possession of genetic information implies responsible disposal of it. The latter is impossible without mastering the basics of modern genetic knowledge, without understanding the language of probabilistic patterns that describe the features of the manifestation of hereditary traits. The genetic ignorance of the population has been and will be a fertile environment for unscrupulous political speculation and dishonest commercial activities in the field of genetic testing and medical genetic counseling.

Another social problem faced by society during the implementation of the Human Genome Project is the fairness of access to genetic diagnostics, medical genetic counseling and appropriate methods for the prevention and treatment of hereditary diseases.

Development philosophical ideas of a person about himself it is extremely important, because only by really determining the earthly and cosmic status of a person, one can understand the permissible limits of intrusion into the foundations of his being.

Moral Aspects of Gene Therapy and Counseling

Gene therapy is one of the latest trends in the development of medicine. To date, it has been applied to hundreds of patients, and in some cases with quite encouraging results. The most promising is the use of gene therapy for the treatment of monogenic hereditary diseases, in which it is assumed that the introduction into the body of genetic material containing a normally functioning gene will cause a decisive therapeutic effect. The development of methods for gene therapy of malignant neoplasms is promising. Significant hopes are associated with the development of effective methods of gene therapy for AIDS.

The prospects for gene therapy in relation to multifactorial disorders, such as cardiovascular disorders, are ambiguous. However, even here, when the "bottlenecks" of diseases are identified, variants of genetic correction are possible, promising at least the possibility of slowing down the development of pathology.

At the same time, it should be emphasized that at present, none of the existing methods of gene therapy can be considered sufficiently developed and reliable. Successful cases, generating public excitement and enthusiasm, alternated with tragic failures, followed by persistent calls to stop these dangerous experiments. Therefore, it can be safely assumed that in the coming decades, gene therapy will not leave the field of experiments, and therefore, an appropriate set of legal and ethical standards should be applied to it.

Medical genetic counseling is a process by which patients or their relatives at risk of a hereditary or suspected hereditary disease receive information about the consequences of this disease, the likelihood of its development and heredity, as well as ways to prevent and treat it.

The final effect of medical genetic counseling is determined not only by the accuracy of the consultant's conclusion, but to a large extent by the understanding, awareness by the counselors of the meaning of the genetic prognosis. A constant memory of trouble, fears, worries, misconceptions about the nature of hereditary diseases make it difficult for the consulting person to perceive the information provided by the consultant. Communicating even first-class research results to parents can be ineffective if they are not properly prepared to receive this information. Explanation of the risk should be carried out consistently, taking into account the characteristics of the consultation.

Most of the patients of a geneticist, by analogy with the recommendations of a therapist, surgeon and other specialists, believe that the doctor of the advisory office will draw up a clear program of action for them, prescribe appropriate measures and give an unambiguous answer which parent is "guilty" for the birth of a sick child and how to avoid repeated troubles. However, they are often disappointed. Many questions they have to decide on their own, for example, when they were told the magnitude of the repeated genetic risk. Therefore, it is very important that parents leave the consultation with a fairly clear idea of ​​the possible outcomes of future pregnancies. To do this, it is necessary to inform patients not only of a probabilistic prognosis, but also to explain the probable causes of the disease in the family, the mechanisms of its transmission, the possibilities of early diagnosis, treatment, etc.

Ethical dilemmas of eugenics

Term "eugenics" proposed in 1883 F. Galton. In his opinion, eugenics must develop methods of social control that "may correct or improve the racial qualities of future generations, both physical and intellectual". Supporters of eugenics believed that the development of medicine and other measures to improve the quality of life weakened the effect of natural selection, and there was a danger of the degeneration of the people. "Subnormal" individuals, participating in reproduction, "contaminate the gene pool of the nation" with pathological genes. Eugenics offered a system of measures that could prevent the genetic degeneration of the population.

There are two types of eugenics: negative and positive. The first is designed to develop methods that can stop the inheritance of "subnormal" genes. The second should provide a variety of favorable opportunities and advantages for the reproduction of the most physically and intellectually gifted individuals.

The ideas of eugenics had a significant impact on the formation of fascist racial theory and practice in Germany, which caused the ideas of genetic improvement to be discredited among scientists and the public. At the same time, some ideas of eugenics cannot but be recognized as rational. Improving the health of the population by systematically reducing the concentration of genes that determine a particular pathology is a completely morally justified action.