Genetic epidemiology of rare diseases in San Luis Province, Argentine

Genetic epidemiologic studies in populations of the world are scarce and this medical information is of special value for clinical geneticists. The purpose of this work was to know and to implicate the geographical environments with the genetic diseases found in patients attending a genetic consulter, according to the type of work, place of residence, or environment characteristic in the province of San Luis, Argentine. Clinical genetics consultations during 2014–January 2019 were analyzed for all patients derived to the primary consultation center, and nearby hospitals in San Luis. A total of 448 patients were registered and examined once a week at the Central Hospital of San Luis. The reasons of the derivate medical consultations were divided into major malformations (MMal), neurodevelopment diseases, and genetic counseling. In addition, possible environmental risk factors such as urban or rural origin, the working activity of parents in manufacturing houses or mines, and drug consumption during pregnancy were also considered. The prevalence of genetic diseases was calculated for all eight province departments and compared with the province’s apparent prevalence. In the whole sample (n = 448), the major proportion of patients came from the city. Patients with MMals were the most abundant and significantly higher than the other categories. The prevalence of MMals distributed approximately similarly in all departments of the province, with exception of two of them. No association was found between types of work or drug abuse with MMals in this sample. Of all types of genetic diseases, the most prevalent was the MMals. Regarding its prevalence, except for two departments, each department’s prevalence had a similar distribution. Most of the affected patients with this type of genetic condition were found in the city and not in other regions of supposed risk.