Effects of informed consent for individual genome sequencing on relevant knowledge
Version of Record online: 7 AUG 2012
© 2012 John Wiley & Sons A/S
Volume 82, Issue 5, pages 408–415, November 2012
How to Cite
Kaphingst, K., Facio, F., Cheng, M.-R., Brooks, S., Eidem, H., Linn, A., Biesecker, B. and Biesecker, L. (2012), Effects of informed consent for individual genome sequencing on relevant knowledge. Clinical Genetics, 82: 408–415. doi: 10.1111/j.1399-0004.2012.01909.x
- Issue online: 10 OCT 2012
- Version of Record online: 7 AUG 2012
- Accepted manuscript online: 13 JUN 2012 12:12PM EST
- Received 28 March 2012, revised and accepted for publication 7 June 2012
- genomic knowledge;
- genome sequencing;
- informed consent;
Kaphingst KA, Facio FM, Cheng M-R, Brooks S, Eidem H, Linn A, Biesecker BB, Biesecker LG. Effects of informed consent for individual genome sequencing on relevant knowledge.
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.