[Medical genetics services in VenezuelaServiços de genética médica na Venezuela]

To characterize medical genetics services in Venezuela and describe the distribution of their resources, services, technologies, and professional training.

A descriptive, documentary study of genetic services was conducted between February and November 2016, involving a review of primary documentary sources and the use of a data collection form in research institutions to obtain information on the availability of human resources, clinical care, and diagnostic services, as well as professional training. Furthermore, the Venezuelan Society of Human Genetics database was used to identify the human resources available in genetics centers. The criterion for inclusion was being an institution with staff trained in genetics.

The inclusion criterion was met by four research institutions, seven universities, and four hospitals, all in the public sector. A total of 124 professionals work in these institutions; 56 of them are physicians and 68 are laboratory staff. Of these professionals, 62% are affiliated with research institutions, which offer patient care services, molecular and biochemical diagnostic services, and, more rarely, cytogenetic, prenatal, and forensic testing. Five regions of the country have between two and four physicians specializing in genetics per million inhabitants. Of the laboratory professionals, 96% are located in two regions (Capital and Zuliana); five regions have none. Research institutions have provided training in genetics to 40% of the country's current human resources.

Genetics services show great variability in terms of diagnostic options. They train large numbers of professionals, but access is limited. There is a need for coordinated policies to integrate these services and reduce existing gaps.