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Telegenetic medicine: improved access to services in an underserved area

We used telemedicine to improve genetics services to patients in the rural northwestern region of Florida. Patients were first seen via videoconference by a genetic counsellor, who obtained family and medical history. A local paediatrician then performed the physical examination, and a plan for evaluation was established. The videoconferencing equipment was connected at a bandwidth of 384 kbit/s, using three ISDN lines. During the first three telemedicine clinics, seven patients were evaluated and then returned to the centre for a face-to-face consultation with the clinical geneticist. No new diagnoses were made face-to-face that had not been identified by telemedicine. No diagnoses made by telemedicine were judged to be wrong when the child was evaluated face-to-face. During a two-year study of patient satisfaction with 12 telegenetics clinics, the 50 families evaluated via videoconferencing were asked to complete surveys; 40 surveys were returned (a response rate of 80%). All individuals either strongly agreed or agreed that the evaluation of their child was appropriate, sufficient and sufficiently protective of their child's privacy. The waiting time for a new patient consultation with the clinical genetics team was 16.9 months (SD 1.9) at the start and 3.0 months (SD 1.0) at the end of the trial period. The difference was significant (t-test, P<0.0001). Telegenetics allows more rapid assurance that a genetic syndrome has not been identified, or a quicker initial evaluation and diagnosis for children who do have an identifiable genetic syndrome.