A publicly and privately sponsored international scientific collaboration with the goals of identifying all of the approximately 100,000 genes in human DNA, determining the genetic sequence of human DNA and storing this information in databases. Other goals of the Human Genome Project include developing faster and more efficient sequencing techniques, developing additional tools for data analysis and raising and addressing the ethical, legal and social issues that arise from the project itself. [Source: Human Genome Project Information.] The samples of DNA used in the project come not from any single person, but from a representative sample of people from both sexes, different races and diverse ethnic backgrounds. Additionally, researchers are studying the genetic makeup of non-human animals in an attempt to achieve some of its goals. The Human Genome Project is unique in several ways, including—but not limited to—the fact that none of the participating researchers or their sponsoring countries may claim to own the results of their research as private intellectual property, and the fact that it is the first major scientific research project to include considerations of its ethical, legal and social implications as an inherent aspect of the project itself.
The Human Genome Project began in October of 1990 and was scheduled to end in 2005. In the spring of 2000, leaders of the Human Genome Project confirmed that a rough draft of the human genome had been completed (a year ahead of schedule). This rough draft provided a skeletal sequence across 90 percent of the human genome. Remaining gaps will be closed and accuracy would improve over the next three years, resulting in a complete DNA reference sequence by 2003 (two years earlier than originally projected). [Source: Human Genome Project History.] Once these gaps are closed, the most significant task will remain; namely, interpreting the information and applying it in a practical and responsible way. This task entails the development of potential therapeutic interventions created by the information gained from the Human Genome Project and the ethical analysis of the issues it raises.
The ethical, legal and social issues raised by the project are numerous and diverse in nature. Perhaps the primary practical questions concern fairness in the use of genetic information by various organizations, including health insurers, employers and legal courts, as well as issues of privacy, confidentiality and who should control genetic information. Some clinical issues raised by the project concern reproductive rights, adequate education of care-providers and patients concerning scientific limitations and reasonable expectations, genetic capabilities and social implications, and the ability of patients to give informed consent to increasingly complex and controversial procedures. As with all healthcare decisions, ethical judgements concerning the potential and actual uses of the results of the Human Genome Project need to be made in light of the foundational principles of human dignity and the common good.
Philosophical questions concerning human nature, human responsibility, free will and concepts of health and disease also are raised by the project. Though the success of the Human Genome Project creates enormous possibilities in the fields of medicine and healthcare, the temptation to reduce all behavior and disease to genetic causal factors needs to be resisted. In many cases, it is possible that the presence of particular genetic traits merely implies a genetic predisposition to a particular disease or behavior pattern, but does not necessitate any one outcome. In other words, the presence of a particular gene or genetic mutation may imply that an individual is susceptible to or even predisposed to a particular disease, e.g., breast cancer, but whether or not that individual will develop that disease also may depend on environmental factors and specific behavior patterns.