Population-based genetic studies: informed consent and confidentiality.

I. INTRODUCTION Leonore Wexler was diagnosed with Huntington's disease in 1968. (1) She was not the first member of the Wexler family to be diagnosed. Her daughter, Nancy, had already witnessed several other relatives succumb to this devastating disease, but it was her mother's diagnosis that spurred Nancy to action. (2) She set forth on a journey to discover the genetic cause of Huntington's disease. (3) Nancy's search led to a remote region of Venezuela, near Lake Maracaibo where she and her team found one family that suffered an extremely high incidence of Huntington's disease. (4) By meticulously mapping the genealogy of that family, including thousands of members stretching back over 100 years, and working closely with genetic researchers, in 1993 Nancy and her team eventually identified the specific gene, and the mutation in that gene, associated with Huntington's disease. (5) The long and arduous path taken by Nancy Wexler and her colleagues has since opened the door to the discovery and mapping of numerous other disease genes. (6) The goals remain consistent but the pace of discovery has increased rapidly. On February 12, 2001, a full two years earlier than expected, researchers with the Human Genome Project announced that a rough map and sequence of the entire human genome had been completed. (7) Technological strides arising from the Human Genome Project promise to change the face of science, and the face of humanity. Interpretation of the human genome promises a wealth of benefits to humanity including accurate genetic testing and more effective therapies and treatments for genetic diseases. (8) As with other technologies, such progress comes at a price. A myriad of concerns has surfaced surrounding genetic research and the possible misuse of genetic technology. Those concerns include: fears of genetic discrimination in insurance (9) and employment; (10) regulation of genetic therapy directed at reproductive cells, which could influence future generations; (11) issues related to reproductive choices and autonomy; (12) assuring equal access to genetic technology between the rich and the poor; (13) and genetic enhancements, including human cloning. (14) Despite the current achievements, understanding the full human genome requires a great deal of additional research into deciphering the complex instructions hidden in our DNA. (15) Virtually every cell in a human body contains the full set of instructions necessary to create that particular individual. (16) These instructions are encoded in twenty-three pairs of individual DNA strands known as chromosomes. (17) These chromosomes carry over 30,000 encoded genes. (18) Each gene performs a specific function, some may perform several, but the functions of only a few genes are currently understood. (19) The Human Genome Project has provided a map of chromosomes, but complete understanding of the functions of each and every gene will be achieved through the use of other research approaches. One necessary approach is population-based genetic studies: studies that rely on the large-scale collection of genetic, genealogical, and medical data from thousands of individuals. (20) Population-based genetic studies come with their own set of concerns. Connecting the DNA sequences of individual genes within the human genome to the various diseases and traits for which they encode will require thousands, even millions, of individual research subjects. (21) Such research requires the divulgence of information that strikes at the very core of our most intimate and private lives. (22) Research participants. DNA samples will be collected, genealogical histories of their families gathered, and their confidential, individual medical records scrutinized. (23) In order to find willing participants for privacy-invasive research, two major issues must be addressed: informed consent and confidentiality of research records. This Comment explores several of the proposed and ongoing population-based studies in Iceland, Estonia, Italy, Britain, and the United States. …