Abstract for presentation at 11th International Congress of Human Genetics

Preliminary results of a website on genetic consultations and a program of online education in clinical genetics in Chile

  • Dr Silvia Castillo Taucher, Genetic Unit, Hospital Clínico Universidad de Chile, Santiago, Chile
  • Dra Rosa Pardo, Genetic Unit, Hospital Clínico Universidad de Chile, Santiago, Chile
  • Dr Miguel del Campo, Genetic Unit, Universidad Pompeu Fabra, Barcelona, Spain
  • Dr Luis Pérez-Jurado, Genetic Unit, Universidad Pompeu Fabra, Barcelona, Spain
  • According to the 2002 Chilean census the country’s population is 15 million. Life expectancy for men is 74.8 years, 80.8 years for women.
    The global fertility rate is 1.9. Professional assistance in deliveries is 99.8%, maternal mortality rate is 1.3 per 10,000 births and mothers 35 years or older account for 14.8% of total births. The infant mortality rate in 2003 was 7.3 per 1,000 live births, congenital malformations were the second leading cause (33.6%). Abortion is prohibited by law.
    In January 2003, with the voluntary collaboration of all 25 clinical geneticists in Chile, we implemented a website for clinical consultations and an expert discussion board that serve urban and rural hospitals throughout the country. Telegenética in Spain began simultaneously with common aims of online assistance in genetic diagnosis. The interchange of technical support financed by Agencia de Cooperación Iberoamericana has allowed significant improvement of the Chilean website (www.teledismorfologia.cl) since January 2006. We plan to use this site as a learning tool for postgraduate students in clinical genetics from Latin America and will extend its clinical usefulness to other countries.
    During 2005 we established a pilot web-based course "Online Education in Clinical Genetics for Health Professionals" directed to those working in the only population-based registry of congenital birth defects in the region Maule, in Chile. The contents include matters and instructional modules about genetics. In 2006 we are improving and offering the program through www.medichi.cl, a net of digital learning in health conducted by the Faculty of Medicine Universidad de Chile.
    The website and the course should improve care for patients and their families by helping primary health care professionals 1) understand genetic influences on illness and the methods for assessing genetic risk, 2) recognize and manage more effectively the most common genetic problems, 3) improve identification and description of children affected by birth defects, 4) locate information about available services, 5) recognize situations that should be referred to specialists, and, 6) improve their ability to find and manage information electronically.

    Conference Organiser - ICMS Pty Ltd