Progress in diagnosing skeletal dysplasia in a southern Indian hospital could serve as a model for other rare diseases and for developing countries
From OrphaNews September 2014
In India, genetic testing is available in cities but rarely in rural settings. In an article published in the American Journal of Medical Genetics, Nampoothiri et al. report the experience of skeletal dysplasia (SD) diagnosis in a hospital in Kerala, where half the population lives in rural areas. From November 2005 to April 2013, physicians were trained to conduct genetic counselling, evaluation and testing on families at risk of carrying some form of SD or related condition. With the remote assistance of specialists based abroad, for complex cases, and networks such as the European Skeletal Dysplasia Network, the hospital investigators diagnosed 514 cases of SD. Mutation analysis confirmed 109 cases, 54 cases were confirmed by enzyme analysis and the remaining 351 were diagnosed by clinical and radiological evaluation.