The state of public health genetics in Rhode Island

Abstract

Rhode Island is a small state, with a population of approximately one million; 11% live below the poverty line; 10% are uninsured; 10% are minorities; and 13% have no regular source of medical care. There are approximately 77,000 children under the age of 6 years; 20% live in poverty. As reported by vital records, the state has approximately 13,000 births per year; 3.2% have congenital anomalies; less than 1% have inborn errors of metabolism or hemoglobinopathies; but 41% are deemed at developmental risk. There are a total of 1,900 children in the RI Department of Health's early intervention program. One of the departmental goals is to ensure that all children with special health care needs receive diagnostic, therapeutic, and habilitative services on a timely basis. Towards this end, the department has established a new initiative to integrate genetics in public health, utilizing both existing and new sources of funding (from the Maternal and Child Health Bureau of Healthcare Resources and Services Administration). A novel information infrastructure will be implemented to identify children with such needs; identify health resources and services in use; generate aggregate data for surveillance, needs assessment, planning, and evaluation; generate profiles for tracking and followup services; and provide patient information to pediatric and specialty physicians. All of the above will be achieved through a universal, longitudinal, child health information database (KIDSNET), which is linked to 18% of pediatric medical-care sites in the state, and serves more than half of the children in the system. A revised state genetics plan is currently being written to incorporate all relevant elements, with special emphasis on genetics education for consumers, nongeneticist healthcare professionals and members of the legislature.