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Human Genetics in Ecuador


Paleogenetic studies show curious data in the development and interest that ancient settlers in Ecuador had for genetic problems and malformations. In the Valdivia and Chorrera cultures ( 4,000 and 1,500 B.C. respectively ) there were representations of bicephalies, polydactyly, ectrodactyly and hermaphroditism. In the Tolita and Jama-Coaque cultures ( 500 B.C.) there were representations of giants and midgets. Medical Human Genetics is a field that has just began to rise as a specialty. The first studies that were related to pahtological heredity date from 1915. It has just been recently from 1984 that Genetics in Ecuador starts to take on a medical specialty in Ecuador.

Genetic services were created in two hospitals at about the same time, Social Security Hospital and Military Health hospital. Genetic care facilities are situated in two main cities in the country. Chromosome studies in peripheral blood, solid tumors, bone marrow and effusions were initiated in 1987. Also at this time, the first prenatal screening in amniotic fluid was performed, and so was a chorionic villus biopsy.

In 1992 diagnostic tests for metabolic disorders such as phenylketonuria and achondroplasia were performed. In 1995 Molelcular Genetics studies were initiated screening for Cystic fibrosis, Leukemia ( bcr-abl ), Human Papillomavirus, some oncogenes ( NF2) and repair genes. Currently we are working towards developing DNA and RNA extraction and PCR techniques.



After 10 years  of development, the medical genetics and cytogenetics fields are consolidated in various medical applications in hospitals in Quito and  also in basic investigation in our university, although  genetic services  have not yet reached the rest of the country.

The Ecuadorian Society of Genetics has been formed, and includes the only 15 specialists in the country. Professional activities are mostly focused on private practice at the moment. The Ministry of Public Health has not yet devised programs geared towards genetic problems. Those hospitals which have Genetic services in the capital city are the following: Military Hospital, which covers about 2% of the population, Social Security Hospital ( public hospital ) covers 20% of the population, Metropolitan Hospital ( private ) covers less than 1% of the population. In the second largest city in Ecuador, Guayaquil, there are two hospitals which offer clinical genetics, cytogenetics and counseling, Children's Hospital and Social Security Hospital, both are public and cover 20% of the city's population.

Among the universities in Quito, Catholic University ( private ) uses cytogenetic  and molecular techniques for investigation purposes. Central University ( public ) also performs cytogenetic studies and some counseling. Catholic University in Guayaquil (public) is setting up a laboratory for investigation at the molecular level. In the third largest city in the country, Cuenca,  cytogenetic tests are performed, and there are also clinical genetics services and counseling.



Genetic diagnosis in children and adults: H P
Congenital defects: H U P
Cytogenetics: H U P
Molecular cytogenetics (FISH): U*
Cellular cultures (DP) amniotic fluid: P H
Patient follow-up: H U P
Counseling: H U P
Genetics and Radiation: U*
Genetics and Cancer: H U*
Molecular Genetics: U*

H= Hospital. U= University . U* Catholic University, Quito. P= Private Practice.


All  institutions which carry out studies in Genetics are directed by specialized professionals. In what concerns legislation for genetic problems, there is a law for protection of  the handicapped and impaired. There is no special legislation for interruption of pregnancies, but this is done only in cases in which prenatal screening by at least two professionals agree that there is a genetic disorder or a severe malformation, and the parents ask for interruption of a pregnancy. Although there is a bio-ethical discussion , the majority of the population accepts interruption of pregnancy when there is proof that there are problems with the fetus, as opposed to voluntary interruption of pregnancy. This situation could be owed to the fact that due to the socioeconomic status of the population in this country it is considered a burden to carry for a child with problems. Although there is nothing written about this, most geneticists agree on this point.