Medical Genetics - V. M. Zaporozhan 2005

Prevention of Hereditary Diseases
Ethical, Moral, and Legal Issues in Medical Genetics

Medical genetics, perhaps more than any other medical science, is deeply intertwined with ethical issues. First and foremost, this is because the subject of genetic research is not only the proband (a specific individual who is ill or seeking consultation), but also their family, and in screening studies, Selection/30.html">The population as a whole. The results of genetic research or interventions can have profound implications not only for the person being tested, but also for their descendants across multiple generations, potentially influencing the genetic Structure OF THE population at large.

Numerous parties are involved in any genetic study or medical genetics program: researchers, physicians, Donors, recipients, patients, and family members. Furthermore, the findings of geneticists may be of interest to various social services dealing with issues of employment, life insurance, health coverage, and property rights.

People may handle biomaterial samples in various ways: collecting, studying, technologically transforming, transferring them to third parties (researchers, physicians, or others), or introducing samples containing Genetic information into a recipient's body. The resulting information can be utilized differently: stored, transmitted, disseminated, or destroyed. All of this constitutes genetic information that concerns the subjects themselves, patients, their family members, and so on. At the same time, the ethics of genetics differs from many other branches of biomedical ethics in one key aspect: not only the subject themselves, but also their direct descendants across multiple generations may be affected by altered genetic information.

The core ethical principles of medical genetics are formulated in the WHO document "Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services," adopted at the WHO meeting on "Ethical Issues in Medical Genetics" (December 15–16, 1997,

Geneva). This document outlines both general ethical principles for the operation of genetic services and specific guidelines for various areas of medical genetics, such as Genetic Counseling, genetic screening, presymptomatic and susceptibility testing, prenatal Diagnosis, and the operation of DNA banks.

The general ethical principles of medicine are fully applicable to medical genetics:

1. Recognition of personal autonomy, which is the right of an individual to make their own decisions regarding their body, psyche, and emotional status.

2. Justice, which implies equal access for all people to necessary public goods. This applies to medicine, healthcare, and technology when funded collectively by society; thus, justice represents the taxpayer's right to an equal or equitable share of public resources necessary for a normal life.

3. The Hippocratic injunction "do no harm," which dictates that it is ethical to apply interventions to an individual only if they will not cause harm.

4. In modern bioethics, the Hippocratic "do no harm" is expanded to: "not only do no harm, but also do good." The former is termed nonmaleficence, and the latter is beneficence.

These four principles remain central across all levels of bioethics, spanning all its domains and aspects.

Let us examine some of the most critical issues that may arise during various activities of a medical geneticist.

A fundamental component of medical genetics is genetic counseling. The moral and ethical dilemmas arising in this context include the intrusion into family privacy. Taking a genealogical history uncovers many sensitive family secrets (the presence of Hereditary diseases, intellectual disability, Congenital Malformations, Pregnancy history and outcomes, consanguineous marriages, etc.). Discussing such matters requires tact and confidentiality. Respect for patients and families seeking consultation, as well as for their opinions, is a vital principle of genetic counseling. It is essential to provide complete and accurate medical-genetic information to consultants in a simple and understandable manner. However, information provided to the family and its individual members should be tailored to what they actually wish to know. If a family does not ask about certain matters, providing unsolicited information may be superfluous and lead to undesirable complications. Such complex questions include: "Is the disease lethal?", "Whose fault is it?", or "Who is the carrier of the mutation?" While a geneticist should know the Answers to all such questions, patients should not be burdened with information they prefer not to know. Medical confidentiality regarding patients and their families must be safeguarded against intrusions by employers, insurers, or schools. The WHO document recommends employing a nondirective approach during counseling, except in cases where effective Treatment for the condition is available.

Consultants may be offered genetic testing, which refers to the analysis of an individual's specific genetic traits. Typically, this involves testing an isolated individual rather than a population. When populations or specific groups are examined for the presence and frequency of certain genetic markers, it is generally referred to as screening—parsing a population for specific traits. All such Procedures involve human interaction and therefore require ethical regulation. This is particularly emphasized in countries with well-established organizational and legal systems.

Genetic screening or testing must be entirely voluntary, with the exception of free newborn screening for certain inherited Metabolic Disorders, where early Diagnosis and treatment can prevent the onset of the disease.

All types of procedures must be carried out with the individual's informed consent. Informed consent means that a person engages with a geneticist, physician, or other researcher voluntarily, while the professional is obligated to provide adequate information in an accessible format. This information must be sufficient to help the individual make an independent decision regarding which procedures they agree to undergo and which they refuse.

Confidentiality of information is one of the most critical rules in any genetic research. This rule permeates all documents governing the bioethical regulation of medical practice. According to this rule, information regarding a person's genetic status may only be disclosed to that individual, their legal guardians or representatives, and their treating physicians. Professionals are strictly prohibited from transmitting any information to third parties (educational institutions, employers, insurers, social services, etc.) without the explicit consent of the tested individual or their legal guardians, as this could lead to genetic discrimination.

Informed consent and confidentiality are particularly crucial in presymptomatic testing—identifying healthy individuals who have inherited a Gene for a late-onset disease (such as Huntington's disease)—as well as in susceptibility testing for multifactorial disorders (where identifying susceptibility genes does not mean the person will inevitably develop the disease).

Significant ethical and moral questions arise in prenatal diagnosis, which should be accessible to all who need it. When recommended on medical grounds, it should be performed regardless of the family's stance on abortion. Such prenatal diagnosis can help certain families prepare for the birth of an affected child. Prenatal diagnosis must be preceded by genetic counseling. The physician is responsible for explaining all prenatal test results to the family. How to proceed in the event of a severe hereditary pathology in the fetus is a decision for the family, not the physician. A major issue associated with prenatal diagnosis is pregnancy termination. Substantial divergences in opinion among medical professionals, patients, and society across different cultures surround the issue of termination, particularly when carrying a terminally ill fetus.

Proponents of one extreme viewpoint argue that artificial termination of pregnancy is unacceptable even when based on a hopeless fetal prognosis. Proponents of the opposing viewpoint maintain that in a hopeless situation, the moral and material burden of sustaining a severely affected individual until natural death should not be imposed on the woman, her family, or society.

Ethical issues demand a balanced approach when it comes to the etiological treatment of Hereditary and Congenital disorders through Gene Therapy—that is, the artificial genetic-engineering replacement of damaged genetic structures with normal donor structures or laboratory-synthesized ones in vitro. Although all gene therapy procedures strictly adhere to generally accepted biosafety rules for Introduction/32.html">Genetic Engineering work, introducing gene constructs into The Human Body raises the standards for genetic safety significantly. The type of Cells targeted for gene therapy is of paramount importance. Any introduction of genetic material into human cells can carry adverse consequences related to uncontrolled insertion into various genomic regions, potentially disrupting gene function. However, the negative impacts of somatic versus germline gene therapy are incomparable in scale. In the former case, the concern is The Fate of a single critically ill individual, and the risks associated with the therapeutic procedures are typically lower than the risk of dying from the primary disease. Furthermore, the genetic risk of somatic gene therapy is reduced when using genetic constructs incapable of integrating into the recipient Cell's genome. Conversely, introducing genetic constructs into germline cells introduces the possibility of perpetuating unintended modifications in The Genome of future generations. International documents from the World Health Organization, UNESCO, and the Council of Europe recognize only somatic cell gene therapy as ethically permissible.

In recent years, serious ethical concerns have been debated in connection with the Human Genome Project, as well as The Development of novel genetic technologies such as cloning, stem cell research, and others.

A foundational document protecting citizens' rights and freedoms in light of new advancements in genetics and biotechnology is the "Universal Declaration on The Human Genome and Human Rights," adopted at the 29th session of the UNESCO General Conference on November 11, 1997. It became the first overarching legal instrument in the field of biology to guarantee human rights and fundamental freedoms while acknowledging the necessity of safeguarding freedom of research. Freedom of scientific research is an integral component of freedom of thought. The purpose of applied human genome research is to alleviate human suffering and improve the health of individuals and all humanity. These issues are also addressed by the Council of Europe, which adopted the "Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine" on April 4, 1997, commonly known as the Oviedo Convention (or Convention on Human Rights and Biomedicine).

The documents emphasize that the human genome forms the biological foundation of the human family worldwide. Scientific research on the human genome must be conducted following a rigorous prior assessment of potential risks and benefits. The cornerstone for evaluating any research or biotechnological method must be the principle that the interests and welfare of the individual prevail over the sole interests of society and science.