Genetics and genomic medicine in Argentina

VISHNOPOLSKA, SEBASTIÁN A.; TURJANSKI, ADRIÁN G.; HERRERA PIÑERO, MARIANA; GROISMAN, BORIS; LIASCOVICH, ROSA; CHIESA, ANA; MARTI, MARCELO A.

Molecular Genetics and Genomic Medicine

Wiley-Blackwell

Año: 2018

Argentina is a country with inequalities in terms of healthcare,including medical genetics. Although all inhabitants(and immigrants) by law are granted access to health services,the fragmented system of public, social security, andprivate funding contributes to wide disparities in the population´seffective use of key technologies, especially in thegenetics and genomics area.The use of genetic testing in the forensics field for therecovery of appropriated grandchildren and the fight forhuman rights seems to have had little influence on humanhealth in Argentina. Until now, the vast majority of physicianstrained in the country have little knowledge of geneticsand the underlying molecular basis of human diseases.In this context, it is important to highlight the efforts ofseveral public organizations such as BNDG, CENAGEM,RENAC, NBS Program, and local hospitals in traininghealthcare professionals in medical and molecular geneticsand developing new initiatives available for the Argentineanpopulation.Concerning genomics, the first genomes sequenced andthe ?100 Exome? campaign serve as a proof of concept,that it is possible to implement a local molecular diagnosisservice based on next generation sequencing for researchand clinical innovation. The implementation was based onthe knowledge and capacity of local professionals. It is anexample of how these projects can be set and thenexpanded in a national fashion, with guidelines and protocolsadapted from the already existent internationally availableservices to satisfy the regional needs. Key to successof any of these techniques in the daily life of scientists andphysicians is to create links between the different agents ofchange, to truly create interdisciplinary teams capable oftackling the problems that are sure to arise.Next steps to strengthen the quality and availability ofthese genetic analyses include the creation of local humangenetic databases of variant frequencies that truly representthe genetic imprint of the Argentinean population, which isunderrepresented in international databases, with a questionable?Latino? ethnicity component, that fails to trulyrepresent the Amerindian ancestry of Argentina and otherLatin American countries.In the public health and political field, new initiatives arerequired to expand the results achieved by the initial projectsin the area of genomics. Some public pediatric hospitals, suchas Hospital de Niños Dr. Ricardo Gutiérrez and Hospital Garrahan,have recently acquired some next generation sequencersand are already using them for diagnosing different pathologies.Moreover, several health insurance companies are startingto acknowledge the utility of these genomic tests and to coverthe costs of diagnosis using these technologies. However, thereis much to be done to expand the access to these tests to thewhole population. Most advances are made in the centralregion of the country, while the other regions fall behind. Inthis case, it is imperative that policy makers of the countrytake into consideration this reality and promote the access andavailability of these services in an ethical and egalitarian way.