Patient Perspectives and Demographic Factors Influencing Non-Participation in a Large Genomics Study

Area of Science:

• Genomic Medicine
• Bioinformatics
• Population Health

Background:

• Whole exome sequencing (WES) studies are crucial for advancing personalized medicine.
• Understanding patient non-participation is vital for equitable genomic research.
• The Tapestry study aimed to identify barriers to WES participation.

Purpose of the Study:

• To identify and analyze the reasons why patients decline participation in the Tapestry whole exome sequencing study.
• To examine demographic trends and factors associated with declination in genomic research.
• To inform strategies for enhancing patient engagement in large-scale genomic initiatives.

Main Methods:

• Analysis of 12,705 patient declination reasons (RPs) from the Tapestry study (July 2020 - May 2024).
• Categorization of free-text comments into 7 themes.
• Comparison of demographics (age, race, ethnicity, PCP status, rural-urban area) based on consent status.

Main Results:

• Declining patients (mean age 61) were 90.1% White and 57.4% female.
• Primary reasons for declination included data privacy in EHRs, process complexity, and discomfort with genetic research.
• Significant demographic differences (sex, age, race, ethnicity, PCP status, location) were observed in declination reasons.

Conclusions:

• Demographic and structural factors significantly influence participation in genomic studies.
• Barriers such as privacy concerns, logistical issues, and mistrust impede enrollment.
• Targeted education and provider engagement are necessary to promote informed consent and equitable participation in personalized medicine.