Brazil has a heterogeneous population comprising indigenous, European, and African ancestral roots that have contributed to carrier risks for certain autosomal recessive disorders, such as sickle-cell disease, thalassemias, cystic fibrosis, and (in the Ashkenazi Jewish Brazilian population) Tay-Sachs disease.
An anonymous online survey was distributed to Brazilians using Facebook and Reddit. A total of 353 eligible participants responded. This study explored knowledge of these disorders, knowledge of autosomal recessive inheritance, perception of carrier risk, and interest in carrier screening. The mean knowledge score was 53% (range: 15% to 100%) and was not significantly associated with level of education. Physicians had significantly higher knowledge scores than all other professions. Non-physician healthcare professionals, however, did not have higher knowledge scores when compared to non-physician professionals. Overall, perception of carrier risk was low. Participants expressed high interest in carrier screening, regardless of demographic background. Seventy-eight percent of participants expressed high interest in carrier screening, and 91% expressed high interest specifically in carrier screening for life-threatening disorders if treatment were available. Participants preferred having carrier screening prior to pregnancy compared to during pregnancy or waiting for newborn screening (p<0.001). Additionally, 86% of participants were interested in carrier screening for disorders that are not typically included in newborn screening.
Challenges to implementing a screening program in Brazil include the shortage of genetics-trained professionals and lack of infrastructure. The carrier risks for these disorders, and the interest presented here, justify a need for expansion of Brazil’s genetic services to include population-wide preconception and prenatal carrier screening.