Level of genetic knowledge in women from DMD families and university students: challenges for genetic counseling

Abstract

Introduction

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder that predominantly affects males. Female carriers represent a clinically relevant group with reproductive risk and variable phenotypic manifestations, for whom genetic literacy is essential for informed decision-making regarding diagnosis, family planning, and access to genetic counseling. The level of genetic knowledge among women from DMD families — who acquire information primarily through direct clinical experience — has not been systematically described or compared with that of university students, whose educational gaps in genetics may impact the quality of healthcare they will provide as future professionals.

Objective

To compare the level of genetic knowledge between women from families with confirmed DMD cases and university students from different academic programs, using a previously validated instrument.

Methodology

Comparative cross-sectional study. A validated genetics knowledge questionnaire was administered to eight groups (n = 245): women from families with molecularly confirmed DMD diagnoses recruited at ADMO A.C. (n = 32) and university students from Dentistry (n = 80), Nutrition (n = 46), Medicine (n = 30), Physical Therapy (n = 21), Agricultural Engineering (n = 14), International Business (n = 12), and Nursing (n = 9). The instrument assessed basic genetic facts, inheritance patterns, and genetics of disease. Descriptive statistics, the Kruskal-Wallis test, and the Mann-Whitney U test for sex-based comparisons were used (p < 0.05).

Results

The median age ranged from 18 years (Dentistry) to 48.5 years (women from DMD families). Since scores did not follow a normal distribution in most groups (Shapiro-Wilk, p < 0.05), non-parametric tests were applied. The Kruskal-Wallis analysis detected no statistically significant differences in total genetics knowledge scores across the eight groups (χ² = 6.50, df = 7, p = 0.482, ε² = 0.027). In contrast, the Mann-Whitney U test revealed significantly higher scores in males (mean = 12.0 ± 1.90; median = 12) compared to females (mean = 11.4 ± 1.56; median = 11; U = 4,902; p = 0.006).

Conclusions

Genetics knowledge was homogeneous among women from DMD families and university students across different academic areas, regardless of formal training. This finding suggests that direct exposure to a genetic disease generates informal learning equivalent to formal education, while also revealing knowledge gaps across all groups. The association between male sex and better performance should be considered when designing educational interventions and genetic counseling programs aimed particularly at women at risk of being DMD carriers.