Community participation and representation in genetic studies: testing the application of fundamental ethical principles.

Abstract

Recent advances in the Human Genome Project (HGP) and its promise for the betterment of human health has escalated public consciousness about the science of genetics as well as concern about possible misuse of information garnered from this field. However, it is important to emphasize that neither genetics nor its associated and undesirable ideology of eugenics is new. In fact, eugenics was well established by the close of the 19th century, most influenced by the interpretation of Mendel's famous breeding experiments. Foremost in these explications were the works of biologist Charles Davenport in the United States and the "Victorian polymath" Francis Galton. Basing his theories on Mendel's work, Davenport applied a reductionist approach to explain a wide variety "of human conditions and behaviors from mental retardation and epilepsy to alcoholism and poverty." Galton believed "that much human weakness and misery arose ineluctably from the germ line." This ideology, based largely on the over-simplification and misinterpretation of scientific information, persisted in much of Western culture and was firm in the minds of many scientists and non-scientists in the United States in the 1920s and 1930s. The philosophy reached its lowest point at the hands of the Third Reich, whose atrocities ultimately lead to the establishment of the Nuremberg Code in 1947, the moment generally regarded as marking the beginnings of modern bioethics. The Nuremberg Code is a set of ten principles designed to protect human research subjects by emphasizing consent of the subject and placing much of the responsibility on investigators. Its principles, particularly the first, "The voluntary consent of the human subjectis absolutely essential," set in motion the subsequent establishment of a series of international and United States guidelines and regulations primarily concerned with the protection of individual research subjects. It is this focus on the individual, not groups or populations, that challenges the application of existing regulations and their core ethical principles to genetic studies. This article focuses on the application of these regulations, their core ethical principles, and the challenges of applying them towards studies more likely to be concerned with populations than individuals.