Patients with hereditary diseases and their families constitute a large population group which arises many ethical issues related to providing medical care. All elements of medical deontology and universal morality, formulated by society since the Hippocratic period, remain valid for this group of patients. However, the peculiar characteristics of the courses of most hereditary diseases, specifically their lifespan, progression, severity, and especially the facility to be transmitted from generation to generation, pose specific ethical issues to the physicians and society in the backdrop of the latest advances in human genetics. The essence of success is that they have provided genetic technologies to interfere with the human genome. Not everything in the rapid scientific progress is immediately responsive 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 protocols of any nature are the moral norms of society. Therefore, a bioethical consideration of new scientific advances is the first step toward the prevention of the negative consequences of scientific advances. This provision may be best illustrated by an example of quickly developing disciplines, which undoubtedly include genetics in all its diversity.
The necessity to understand the ethical aspects of the use of new technologies has always existed. The difference between 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 conception of the idea of prenatal diagnosis of hereditary diseases to its widespread application in clinical medicine.
The development of legal provisions for biomedical science and practical medicine relies on the moral principles of society and cannot be parted from the development of legal consciousness among different social groups (scientists, physicians, patients, politicians, etc.).
The main result of bioethical considerations is the timely discussion of moral and legal issues that arise in new scientific and practical areas. The development of national and international laws, recommendations, guidelines for conducting research as well as for the practical implementation of the results relies on discussions and scientific research.
The scientific research in the field of human genetics clearly involves ethical issues and depends on the ethical meaning of its results. Genetics has advanced so much that sooner or later an individual will have the ability to determine his biological fate. In this regard, the use of all the potentials of medical genetics is possible only with strict observance of ethical standards.
The progress of medical genetics has raised the following ethical issues:
- genetic engineering (gene diagnostics and gene therapy);
- development of methods for early diagnosis of hereditary diseases;
- new opportunities for medical genetic counseling (assessment of heterozygous conditions, in vitro fertilization, etc.);
- prenatal and pre-implantation diagnosis of hereditary diseases;
- protection of human heredity from the damaging effects of new environmental factors.
Since medical genetics is concerned with a sick person or his family, it must rely on the principles of medical deontology that have been developed and tested over the centuries. However, in modern conditions this is not enough, because new issues arise in the field of bioethics:
- an introduction of fundamentally new medical and genetic technologies (artificial insemination, surrogate motherhood, prenatal diagnosis, donor genetic screening, gene therapy) has become widespread in medical practice;
- medical genetic assistance and genetic technologies are increasingly commercialized in the Western countries and in the Russian Federation;
- new forms of the physician and patient relationship have been promoted, patients’ and parents’ associations are being formed (dedicated to Down syndrome, cystic fibrosis, phenylketonuria, etc.);
- ethical and legal regulations of scientific research, its directions and results are now required, because it affects 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 (of do good, do no harm, autonomy of the individual, justice) and 3 rules (truthfulness, confidentiality, informed consent).
The principle of doing good in medical genetics has undergone changes in the last 100 years according to the moral foundations of society and the progress of genetic knowledge.
The practical application of this principle is faced with a contradiction between the good for an individual and the good for a group or society. It is on this basis that eugenic programs of forcible sterilization of patients with mental and physical developmental disabilities appeared in the USA, Denmark, Sweden, Germany, and other countries. The main justification for those activities was the priority of the common good of the nation over the individual. In the US, the eugenics program resulted in the sterilization of more than 100,000 people. In the Scandinavian countries, the percent of the population’s sterilized couples was even higher than in the United States. Over 350,000 people were sterilized in Germany.
Contemporary moral principles oblige to seek a compromise between the interests of society and the individual. At present, the norm that the interests of the patient are placed above the interests of society is established in various international documents.
Following the principle of doing good, it is not always possible to determine what is good for the patient and what is good for his family. If in past times 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 and his family together, and non-directive counseling has become the norm in the geneticist practice.
The principle of doing no harm prohibits research and therapeutic activities associated with an unjustified risk of adverse consequences for the patient. However, in the clinical trials phase, the moral responsibility of the physician prevails over the legal one. Physicians and biologists face the principle of doing no harm when conducting clinical trials of gene therapy methods. The solution was found with the creation of institutions’ bioethical committees where such studies or trials are carried out.