Knowledge and attitudes toward expanded carrier screening between the medical staff and general population in China

The purpose of our study was to assess the knowledge and attitudes toward expanded carrier screening (ECS) between the medical staff and general population in China.

It was a survey-based cross-sectional study in Chinese. We provided an online survey for the general public nationwide. We classified the population into the medical staff and general population to evaluate the knowledge gap and provide a reference for ECS's education programs. Except for obstetrician-gynecologists and nurses in the department of Obstetrics and Gynecology, other medical staff were not included in our study. A total of 1947 questionnaires were collected from July 11, 2020 to February 10, 2021. Two hundred and eighty-four questionnaires were excluded from further analysis. The remaining 1663 cases were incorporated into the final analysis. Data were analyzed using IBM SPSS Statistics 26. Comparisons between categorical variables were tested by the use of crosstabs and χ2 test.

The total awareness rates of the knowledge about monogenic diseases and ECS in the respondents were low, with 35.7%, 26.1%, 3.3%, 23.3%, 24.1%, 55.2%, and 23.4% for questions Q1-Q7, respectively. Medical staff had more knowledge than general population. Knowledge about monogenic diseases and ECS was positively correlated with educational level. Most respondents showed a positive attitude toward ECS: 54.4% thought ECS was necessary, and 80.5% wanted to know more about monogenic diseases.

Although the public had little knowledge about monogenic disease and ECS, most of them showed a positive attitude. Our cross-analysis showed that medical staff had more knowledge compared to general population. Pre-test education for ECS can be carried out by medical staff who are not qualified for genetic counseling. ECS training for medical staff, especially obstetrician-gynecologist and nurse in the department of Obstetrics and Gynecology, can reduce the workload of genetic counseling.