摘要：In 1989, we established a small community health clinic to provide care for uninsured Amish and Mennonite children with genetic disorders. Over 20 years, we have used publicly available molecular data and sophisticated technologies to improve diagnostic efficiency, control laboratory costs, reduce hospitalizations, and prevent major neurological impairments within a rural underserved community. These actions allowed the clinic’s 2010 operating budget of $1.5 million to save local communities an estimated $20 to $25 million in aggregate medical costs. This exposes an unsettling fact: our failure to improve the lot of most people stricken with genetic disease is no longer a matter of scientific ignorance or prohibitive costs but of choices we make about how to implement existing knowledge and resources. KEY FINDINGS ▪ Successful integration of molecular technologies into primary care can improve diagnostic efficiency, control laboratory costs, reduce hospitalizations, and prevent catastrophic clinical outcomes. ▪ Population-specific genetic information is a strong foundation for regional preventative health services. New high-density, low-cost genotyping methods afford the opportunity to actuate this model of care in small underserved communities throughout the world. ▪Scaling molecular studies to small populations and even individual families is a reasonable scientific alternative to large scale genome wide association studies, and may help solve some intractable problems in human disease research and public health. “I have no doubt that it is possible to give a new direction to technological development, a direction that shall lead it back to the real needs of man.” E. F. Schumacher, 1974 1 “Stunning scientific and technological advances in genetics will mean little if they do not benefit people.” A. Guttmacher et al., 2001 2
