Effects of informed consent for individual genome sequencing on relevant knowledge

Abstract

Increasing availability of individual genomic information suggests that patients will need knowledge about genome sequencing to make informed decisions, but prior research is limited. In this study, we examined genome sequencing knowledge before and after informed consent among 311 participants enrolled in the ClinSeq™ sequencing study. An exploratory factor analysis of knowledge items yielded two factors (sequencing limitations knowledge; sequencing benefits knowledge). In multivariable analysis, high pre-consent sequencing limitations knowledge scores were significantly related to education [odds ratio (OR): 8.7, 95% confidence interval (CI): 2.45-31.10 for post-graduate education, and OR: 3.9; 95% CI: 1.05, 14.61 for college degree compared with less than college degree] and race/ethnicity (OR: 2.4, 95% CI: 1.09, 5.38 for non-Hispanic Whites compared with other racial/ethnic groups). Mean values increased significantly between pre- and post-consent for the sequencing limitations knowledge subscale (6.9-7.7, p < 0.0001) and sequencing benefits knowledge subscale (7.0-7.5, p < 0.0001); increase in knowledge did not differ by sociodemographic characteristics. This study highlights gaps in genome sequencing knowledge and underscores the need to target educational efforts toward participants with less education or from minority racial/ethnic groups. The informed consent process improved genome sequencing knowledge. Future studies could examine how genome sequencing knowledge influences informed decision making.

Conflict of interest statement

Conflict of Interest Statement

The authors have no conflicts of interest to disclose. The National Human Genome Research Institute and the Barnes-Jewish Hospital Foundation did not play a role in study design, collection, analysis and interpretation of data, report writing or decision to submit the report for publication.

© 2012 John Wiley & Sons A/S.

Figures

Figure 1

Design of ClinSeq™ study. NOTE 1: The return of mutations of immediate clinical implication will take place during a face-to-face appointment at the NIH Clinical Research Center. These results will be few in number. NOTE 2: Yellow boxes indicate steps that will take place at the NIH Clinical Research Center.