Alfabetización genética en cuidadores frente a un asesoramiento genético pediátrico, en un hospital público de Buenos Aires

Abstract

El objetivo del siguiente trabajo fue estudiar los niveles de alfabetización genética en cuidadores, madres y padres que reciben asesoramiento genético sobre sus hijos. Se realizó un estudio observacional correlacional con corte transversal. Se administró la escala Real-G a 156 participantes, que incluye a los cuidadores de niños con un diagnóstico genético y a cuidadores de niños sin un diagnóstico certero. Los resultados mostraron que un 35.5 % de los cuidadores contaban con un nivel de alfabetización genética por debajo de lo esperado. En cuanto a la comprensión, se encontró una M = 5.13 (DE = 1.72), pero herencia (M = 5.71, DE = 1.62) y genética (M = 5.09, DE = 1.89) fueron los vocablos con mayores niveles de familiaridad. Se encontrarondiferencias estadísticamente significativas en los niveles de alfabetización genética según el nivel educativo (p = .00) y en la dimensión de comprensión, entre los cuidadores que tenían un diagnóstico certero y aquellos que no lo tenían (p = .04). Se encontraron relaciones significativas entre los niveles de alfabetización genética y la edad de la madre (p = .01) y la edad del niño (p = .02). En conclusión, no todos los cuidadores que reciben asesoramiento genético alcanzan niveles adecuados de alfabetización genética. Los cuidadores de niños con un diagnóstico tienen mejor comprensión que aquellos padres de niños que todavía no lo tienen. Por último, los mayores niveles de alfabetización genética se encuentran asociados a mayores niveles educativos, la edad de la madre y la del niño. Se considera que la alfabetización genética es una variable central en el asesoramiento que debe abordarse en cuidadores de niños con diagnóstico o sospecha diagnóstica.

Genetic literacy is essential to understand effective participation in social decisions on genetic issues, which promote personal well-being. The study aimed to describe the levels of genetic literacy in caregivers, mothers and fathers, who receive genetic counseling about their children. Also, study explored genetic literacy associations with education levels, age, having a diagnosis, and aspects of genetic counselling. A cross-sectional correlational observational study was carried out. Study took place in a public hospital in Buenos Aires City. Sample consisted of 156 caregivers who received genetic counselling on this hospital. Participants included caregivers of children with a genetic diagnosis (66.7 %) and caregivers of children without an accurate diagnosis (33.3 %). Caregivers had attended genetic consults on a range from 1-13 (M = 3.7; SD = 2.97). Mean age for caregivers was 36.02 (SD = 8.1) and for children, M = 6.07 (SD = 3.85). 51.6 % of children were male and 48.4 % were female. According to the caregivers' report, the average age at which their children received a diagnosis or started the suspected diagnosis was 2.68 years (SD = 3.17). Regarding caregiver´s education levels, 48.4 % of them had not completed high school, while 51.6 % had completed high school or a higher level of studies. The REAL-G scale was administered to caregivers. The REAL-G is an instrument that measures genetic literacy in terms of decoding (scores 0 to 62), familiarity (of 8 genetic terms, scores 0 to 7 for each term), comprehension (scores 0 to 8), and numeracy (scores 0 to 3). Results showed that 35.5 % of the caregivers had a lower-than-expected level of genetic literacy. For decoding, results showed a M = 58.56 (SD = 4.09) of recognized terms. A mean of 5.13 (SD = 1.72) was found for the comprehension dimension. For familiarity with genetic terms, heritage (M = 5.71, SD = 1.62) and genetic (M = 5.09, SD = 1.89) were the terms with higher familiarity. Sporadic (M = 2.92, SD = 2.16) and susceptibility (M = 3.10, SD = 2.16) were the terms with lower familiarity. For the numeracy dimension, a mean of .90 (SD = .88) was found. Also, statistically significant differences were found in genetic literacy levels according to educational level (p = .00), and in the comprehension dimension between mothers who had an accurate diagnosis and those who did not (U = 714.5; p = .01). Finally, significant relationships were found between levels of genetic literacy and the age of the caregiver (Rho = 0.25, p = .01, N = 93) and the age of the child (Rho = -.23, p = .02, N = 93). No significant relationship was found between any of the genetic literacy dimensions and number of genetic counselling consults (p = .54) or with age of diagnosis (p = .93). In conclusion, not all caregivers who receive genetic counseling achieve adequate levels of genetic literacy. Numeracy seems to be part of genetic literacy were caregivers have more difficulties. These results should concern us since understanding rates influences the interpretation of the risk of family recurrence. Also, higher levels of genetic literacy are associated with higher levels of education, mother´s age and child´s age. Genetic counsellors should take into account level of education when working with families under genetic counselling, making sure that they have understood and offering greater opportunities for encounters to promote greater learning. In addition, caregivers who got an accurate diagnosis have better understanding of genetic terms that those caregivers still awaiting an accurate diagnosis. This group of caregivers should be considered as a higher risk group and could benefit from psychological support in the process of getting a diagnosis. Achieving good genetic literacy is a central objective of the genetic counseling process, allowing the patient and their family to be empowered to make informed decisions about their health. Caregivers who undergo genetic counselling could benefit from a psycho-educational process, facilitating genetic information and providing emotional support.