We are living through one of the greatest scientific revolutions in history: the “information revolution” in genetics. The revolution is leading to a deep understanding of biological processes and is uncovering the molecular basis of many human diseases and susceptibilities. It is also confronting society with a vast array of choices, and presenting each individual with the question of what knowledge to seek and how to act on that knowledge, My purpose is to discuss the scientific foundations of this revolution and to foreshadow its consequences.

The current scientific revolution has perhaps one appropriate historical precedent: the chemical revolution that followed Dmitri Mendeleev's key insight in 1869 that the elements could be organized in a simple periodic table.

The surge in genetic research and technology, fuelled in large part by the Human Genome Project, has resulted in the continuing expansion of the range of genetic tests and other genetic information available to physicians, insurance companies, employers, and the general public.’ Genetic tests can provide presymptomatic medical information about an individual, including information about an individual's increased risk of future disease, disability, or early death. These tests can reveal information about an individual's carrier status, that is, the likelihood of parents passing on to their children a genetic condition, and about the health of the individual's family members. Although genetic information provides the promise of early detection and treatment of certain illnesses and disorders, it also poses risks. As a result of the increase in genetic testing and information, legal issues regarding employment discrimination on the basis of genetic information are emerging.

Genetic privacy and confidentiality have both intrinsic and consequential value. Although general agreement exists about the need to protect privacy and confidentiality in the abstract, most of the concern has focused on preventing the harmful uses of this sensitive information. I hope to demonstrate in this article that the reason why genetic privacy and confidentiality are so difficult to protect is that any effort to protect them inevitably implicates broader and extremely contentious issues, such as the right of access to health care. Moreover, the tentative legislative and policy steps undertaken and proposed thus far have been, for the most part, misguided, simplistic, and ineffective.

Until approximately twenty years ago, advances in the study of human genetics had little influence on the practice of medicine. In the 1980s, this changed dramatically with the mapping of the altered genes that cause cystic fibrosis (CF) and Huntington disease (HD). In just a few years, these discoveries led to DNA-based tests that enabled clinicians to determine whether prospective parents were carriers of CF or whether an individual carried the Huntington gene and, as a result, would almost certainly develop the disease.

Observers interested in the social and economic implications of genetic technology realized that such genetic tests could be used by insurance companies to predict which insurance applicants were likely to become ill or even die from these diseases.

The February 1997 announcement of the birth of Dolly, the sheep cloned from a mammary cell of an adult ewe, has drawn attention to the growing ability to select, alter, or otherwise manipulate the genome of offspring. Prior to Dolly, ethical discussion of genes in reproduction had focused on negative selection: carrier screening, prenatal diagnosis, and abortion or embryo discard. After Dolly, ethical debate will have to consider the direct or positive use of genetic selection or alteration technology.

The principal use of genetic selection techniques in human reproduction (reprogenetics) likely will be to treat or prevent disease in offspring. In the future, however, such techniques might also be used to enhance or even diminish expected characteristics of progeny. Techniques to accomplish these goals are likely to include: selection of the nuclear genome, as occurs in somatic cell cloning; chromosomal transplants; or direct insertion or deletion of specific genes.

The interface between genetic research results and clinical practice occurs when patients present them- selves to physicians. When patients ask their doctors about the potential impact of a family disease on themselves, their children, and their grandchildren, physicians have an opportunity to be helpful. Unfortunately, the scientific discoveries are occurring faster than most physicians can read about them in their speciality journals and hence adjust their practice. Meanwhile, the press and media are proclaiming the latest scientific breakthroughs, creating a preventive and curative expectation that physicians cannot fulfill.

In this time of health system reorganization and consolidation, many people do not know who their primary caregiver is, no less which insurer is likely to cover which visit or genetic test.

The most remarkable thing about the U.S. Supreme Court's 1998 decision in Bragdon v. Abbott was that it was necessary at all. Seventeen years into the epidemic of the acquired immunodeficiency syndrome (AIDS), the Supreme Court, by a mere 5-4 majority, finally affirmed what most public health officials, health providers, and lawyers working with people with human immunodeficiency virus (HIV) believed all along: that individuals with HIV infection are entitled to the protections of antidiscrimination law, and that health care providers must respond to a patient's infection based on reason and science, not fear and prejudice. For individuals with HIV, and for those with other disabilities, the Court's ruling was a critical victory. But the very fact that the issues had to be decided by the Supreme Court and that only five justices joined the majority, shows the fragility of legal rights pertaining to HIV as well as the wide gulf between the perspectives of public health and those of public law.

Physicians and other health care providers owe ethical and legal duties to patients to maintain the secrecy of the information learned during the course of patient care. This obligation is fulfilled by limiting access to such information to only those involved in the patient's care-that is, to those within the “circle of confidentiality.” As a general rule, providers may only disclose to others with the written prior consent of the patient. Exceptions may be “ethically and legally justified because of overriding social considerations,” when permitted or compelled by law. For example, eleven states permit providers to disclose identified records to approved researchers.’ Many states compel disclosure in cases where a patient threatens serious bodily harm to another; require reporting to health or law enforcement authorities of communicable diseases, gunshot or knife wounds, or child abuse; and mandate reporting of cancer or other health care cases to state registries (such as immunization, birth, and abortion).

It was a characteristically cold, bright morning in Geneva in 1986, and I had just taken the Number 8 bus from the Cornavin to the headquarters of the World Health Organization (WHO). I wandered into a cluttered and cramped office filled with unopened boxes and scattered papers. Jonathan Mann and a competent Swiss secretary, Edith Bernard, had just moved in. Together, they alone constituted the WHO team that would mobilize the global effort against an emerging plague-the acquired immunodeficiency syndrome (AIDS). Jonathan had recently come from Kinshasa where he led Projet SIDA, an innovative international program to reduce the already weighty burden of the human immunodeficiency virus (HIV) in Africa.