Contents Christine Dunkel-Schetter, Ph.D., Harold N. Bass, M.D., Michelle A. Fox, M.S., Zina H. Tatsugawa, M.S., Carolyn Y. Fang, Ph.D., Rita M. Cantor, Ph.D., Offering Cystic Fibrosis Carrier Screening to an HMO Population: Utilization, Knowledge, and Factors Influencing the Decision To Be Tested Barbara A. Bernhardt, M.S., Neil A. Holtzman, M.D., M.P.H., Gary A. Chase, Ph.D., Ruth R. Faden, Ph.D., M.P.H., Gail Geller, Sc.D., Karen J. Hofman, M.B., BCH, and Efficacy of Education for and Interest in Population-Based Cystic Fibrosis Carrier Screening E. W. Clayton, M.D., J.D., V. H. Hannig, M.S., J. P. Pfotenhauer, M.S., R. A. Parker, D.Sc., P. W. Campbell III, M.D., and J. A. Phillips III, M.D. . . 57 Prenatal Cystic Fibrosis Carrier Population Screening: Lessons from a Regional Trial Peter T. Rowley, M.D., Starlene Loader, and Jeffrey Levenkron, Ph.D. Prenatal Couple Screening for Cystic Fibrosis in Primary Care Settings Richard A. Doherty, M.D., Linda A. Bradley, Ph.D., Glen E. Palomaki, Cost-Effectiveness of Prenatal Carrier Screening for Cystic Fibrosis Economic Evaluation of Cystic Fibrosis Carrier Population Screening Peter T. Rowley, M.D., Starlene Loader, and Robert M. Kaplan, Ph.D. Introduction to the NIH Consensus Development Conference on Genetic Testing for Cystic Fibrosis When the gene for cystic fibrosis (CF) was discovered in 1989, a great deal of attention was given to the implications of this discovery for widespread testing for CF mutations. At the time, scientists, health care providers, and the public urged that research be carried out to examine knowledge and attitudes about, interest in, and demand for CF testing; the effectiveness of educational interventions; optimal informed consent procedures; laboratory issues associated with carrying out such tests; costs and benefits of testing; and possible deleterious effects associated with this testing. They suggested that alternative delivery mechanisms should be explored and called for Federal funds to carry out such research. Since that time, new research has yielded a large body of data on these and other issues. This conference will bring together research investigators, health care providers, epidemiologists, geneticists, ethicists, and other experts, as well as representatives of the public, to present and discuss the latest data. Following 12 days of presentations and audience discussion, an independent, non-Federal consensus panel will weigh the scientific evidence and write a draft statement that it will present to the audience on the third day. The consensus statement will address the following key questions: What is the current state of knowledge regarding natural history, epidemiology, genotypephenotype correlations, treatment, and genetic testing of cystic fibrosis in various populations? What has been learned about genetic testing for cystic fibrosis regarding (public and health professional) knowledge and attitudes, interest and demand, risks and benefits, effectiveness, cost, and impact? Should cystic fibrosis carrier testing be offered to: (1) individuals with a family history of cystic fibrosis; (2) adults in the preconception or prenatal period; and/or (3) the general population? What are the optimal practices for cystic fibrosis genetic testing (setting, timing, and the What should be the future directions for research relevant to genetic testing for cystic fibrosis and, more broadly, for research and health policies related to genetic testing? On the final day of the meeting, the conference and panel chairperson, R. Rodney Howell, M.D., Professor and Chairman, Department of Pediatrics, School of Medicine, University of Miami, will read the draft statement to the conference audience and invite comments and questions. A press conference will follow to allow the panel and chairperson to respond to questions from media representatives. GENERAL INFORMATION Conference sessions will be held in the Natcher Conference Center (Building 45), NIH, 9000 Rockville Pike, Bethesda, Maryland. Sessions will run from 8:30 a.m. to 5:30 p.m. on Monday, 8:30 a.m. to 12:15 p.m. on Tuesday, and 9 to 11 a.m. on Wednesday. The telephone number for the message center is 301-496-9966. CAFETERIA The cafeteria is located on the lobby level and is open daily from 7:00 a.m. to 2:00 p.m. CONTINUING EDUCATION CREDIT The purpose of this Consensus Development Conference is to review the current state of knowledge regarding genetic testing for cystic fibrosis, evaluate optimal testing practices, and identify directions for future research. The conference will (1) present in open, public sessions state-of-the-art information regarding genetic testing for cystic fibrosis, (2) prepare a statement in response to the five specific questions, and (3) inform the biomedical research and clinical practice communities and the general public of the conclusions and recommendations of the panel. The National Institutes of Health is accredited by the Accreditation Council for Continuing Medical Education to sponsor continuing medical education for physicians. The National Institutes of Health designates this continuing medical education activity for a maximum of 14 hours in Category 1 credit toward the Physician's Recognition Award of the American Medical Association. Each physician should claim only those hours of credit he/she actually spent in the educational activity. SPONSORS The primary sponsors of this conference are the National Human Genome Research Institute and the NIH Office of Medical Applications of Research. The conference is cosponsored by the Agency for Health Care Policy and Research; Centers for Disease Control and Prevention; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institute of Mental Health; National Institute of Nursing Research; NIH Office of Rare Diseases; and NIH Office of Research on Women's Health. This is the 106th Consensus Development Conference held by the NIH since the establishment of the Consensus Development Program in 1977. |