ImpactU Versión 3.11.2 Última actualización: Interfaz de Usuario: 16/10/2025 Base de Datos: 29/08/2025 Hecho en Colombia
An observational descriptive study of a newly implemented service of genetic counselling in Pasto (Colombia) between 2015 and 2016 in a low-middle income country.
e13626 Background: in 2015 there were 71.000 new cancer cases diagnostic in Colombia. 10% of cancer cases can be hereditary. Genetic counseling offers to individuals with a family history of cancer the possibility to know their risk. In Colombia a little proportion of eligible patients for genetic counseling have access to it, thus, there is slight evidence about genetic cancer characteristics. We present the features of patients who attended to a genetic counseling in Pasto, where a service of genetic counseling was implemented. Methods: An observational descriptive study of patients older 18 years who had family history of cancer, who attended to a genetic counseling during the years 2015-2016 in the city of Pasto was performed. All patients received genetic counseling, pedigree and on-line test for risk, then patients with risk were included into the study. Results: 101 patients were examined and 23 patients who meet the inclusion criteria were included. Mean age was 44 ±22 years, 74% were female, and 70% came from rural areas. In 65% of consultations the patient paid for their genetic counseling and test. 61% (14/23) of genetic tests were positive, 9% (2/23) VUS and 30% (7/23) negative. In the positive cases, four were associated to familiar colon polyposis; two had a mutation related to medullary thyroid cancer, two cases for cdh1 mutation for gastric cancer and four for hereditary breast ovarian cancer syndrome, two cases were categorized as VUS for breast cancer. As a result of the counseling in 8 patient’s treatments was adjusted. changes in the surgical course and type of surgery was performed. Conclusions: Genetic counseling is a useful tool which can benefit patients; can achieve an early diagnosis and change in treatments. Although practice is uncommon in Colombia, due to in most of the cases health system does not have coverage for that. More efforts on inclusion and public politics are necessary in order to let community have access to this kind of health study. In the future only with a great number of tests can be obtained evidence about the genetic cancer profile in Colombia.