Genomic Knowledge and Mistrust Among Families with Sickle Cell Disease
Authors: Boggs Jacklyn , Johnson Liza , Acharya Rushil , Caples Mary , Mandrell Belinda N 
Published: June 2024

Presentation Date: 6/9/2024

Presentation Start Time: 3:30:00 PM

Background

Researchers and clinicians are enthusiastic about genetic therapies for patients with sickle cell disease (SCD). Despite the potential to be curative, these treatments remain high-risk interventions. Furthermore, health care disparities and systematic racism further complicate knowledge and attitudes around novel research for patients with sickle cell disease. Hopeful attitudes about gene therapy may interest patients, but the relationship between participant knowledge with trust and genomic knowledge is less certain.

Methods

In this prospective mixed-method study, adult and pediatric patients aged 13 years and above, diagnosed with sickle cell disease (SCD), and parents/caregivers of pediatric SCD patients were recruited during routine clinical encounters to participate in a comprehensive assessment of genetic knowledge, attitudes, and beliefs pertinent to genetic testing and clinical research. A specific focus was placed on elucidating survey participants’ genomic knowledge, exemplified by an 11-item true-false survey exposing basic genomic fundamentals, such as the structural composition of genes (i.e., genes are part of chromosomes). The Single-Item Literacy Screen (SILS) evaluated participants’ health literacy, while numeracy skills were assessed via the 3-item Subjective Numeracy Scale (SNS-3). Associations between participants’ demographic characteristics, self-reported literacy/numeracy skills, and genomic knowledge were examined using apt statistical tests (i.e., Kruskal-Wallis, Chi-square, Fisher’s exact, Wilcoxon rank sum). Further, generalized linear regression models and the generalized estimation equation method were utilized for separate assessments in parent-reported, patient-reported, and combined data.

Results

Of 300 participants who participated in the survey, 99% self-identified as African American, and the median age of the surveyed adolescents was 16 years. Parental caregivers had a higher mean literacy score compared to adolescents, with SILS scores of 4.56 and 3.94, respectively (p &lt; 0.0001). Spearman’s correlation test revealed a positive correlation between health literacy and genomic knowledge (p = 0.0068) as well as trust in healthcare providers (p = 0.0001). Additionally, parents scored higher on numeracy skills, with SNS-3 mean scores at 10.54 versus 9.46 for adolescents (p = 0.0001). However, no significant gender-based differences were found in literacy/numeracy skills, genetic knowledge, and trust in medical researchers or healthcare providers.

Quantitative data describes parental attitudes about research participation involving genomic sequencing. The relationship between participants health literacy with trust and genomic knowledge was significant (p &lt; 0.000064). Of the participants surveyed (n = 297), 52 of those (17.51%) expressed feeling not confident in their trust with healthcare providers and medical researchers.

Conclusions

Despite advancing research for curative treatments, clinicians and researchers must continue working to improve health literacy among patients via using various teaching methods and build trusting, compassionate relationships with patients.