Computerized genealogies linked to medical histories for research and clinical care--a national view.

Advances in human genetics beg the integration of genomic/genetic data into clinical practice. The future will include the use of the detailed genetic characteristics of an individual to identify predispositions, to design prophylactic measures, and to provide the most effective treatments. However, in the present, and for patients and populations for whom the expense of genetic characterization will preclude its general use, a thorough family history of disease, of health-related traits, and of responses to treatments and medications could be used efficiently to guide medical decision making. Increased risks for many diseases, based on a positive family history, have been recognized for centuries. Positive family history remains one of the most significant risk factors for many diseases. However, the use of the family history to predict risk and to plan medical care is still sporadic at best. There is no health care system uniformly collecting such data, nor using it effectively to help guide medical decisions. A computerized family health history resource useful for such clinical application requires accurate and complete genealogical and medical data. The resources that might begin to allow such application exist today in two places in the world. More than 30 years ago, and almost simultaneously in the Utah and Iceland populations, computerization of the genealogies of the population founders and their descendants began. The Utah genealogy was record linked to statewide cancer and death certificates dating back decades, and continues to be linked to these, and now additional Utah hospital data. In Iceland, record linking of medical data from collaborating physicians began in the 1990s. Significant descriptions of the genetic nature of many diseases, as well as the identification of multiple disease predisposition genes, has been accomplished from both of these resources. Accomplishments using the Utah genealogy resource include identification of the BRCA1 breast cancer gene, identification of the p16 melanoma gene, identification of a heritable component underlying death from influenza using 100 years of death certificate data, and a recent description of relative risks for cancers of all sites among relatives of prostate cancer cases. The significant contributions from these 2 limited population resources supplies a vision of much wider scope for genealogical resources linked to medical data. We envision creation of the genealogy of the U.S., extending back to ancestors beyond the U.S. (and someday a genealogy of all users of the same alphabets). Genealogy is the second most popular hobby in the world and genealogies extending back tens of generations are commonly found on the Internet or published in books. In Utah we have created tools to gather and link publicly available genealogical data. A pilot genealogy of 14 million individuals for Utah and the surrounding states, with extensions back to European ancestors has been built. We limited the size of this pilot genealogy by requiring a Utah record; an increase in scale is possible. Were a U.S. genealogical resource to be built, national medical data repositories such as the Veterans Administration data and the Social Security Death Index could provide initial nationwide phenotype data to be linked. State birth and death certificates and disease registries could be added. Research opportunities to understand the familial and genetic contribution to human health and disease from such a resource are almost unlimited. Analysis of these data could form the basis of risk estimation models which could be used to determine need for genetic testing, appropriate disease screening schedules, suggested lifestyle changes, and preferred treatments and medications for individuals and physicians willing to utilize public data to enhance and inform family health histories. The success of the UPDB and the Iceland resource in appropriately handling such data for over 30 years supports the potential of such an approach. Neither the Utah nor the Iceland resource has yet been used to assess an individual’s familial risk of disease. The extension to such use requires dealing with many significant issues, including availability of genealogical data, availability of medical history, quality of these data, computerization and record linking of these data, privacy and security issues surrounding the data, and liability implied in their use for medical decision-making, among others.