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 (OR: 8.7, 95% CI: 2.45, 31.10 for postgraduate education and OR: 3.9; 95% CI: 1.05, 14.61 for college degree compared to less than college degree) and race/ethnicity (OR: 2.4, 95% CI: 1.09, 5.38 for non-Hispanic whites compared to other racial/ethnic groups). Mean values increased significantly between pre- and post-consent for the sequencing limitations knowledge subscale (6.9 to 7.7, p<0.0001) and sequencing benefits knowledge subscale (7.0 to 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.

Relationships Between Health Literacy and Genomics-Related Knowledge, Self-Efficacy, Perceived Importance, and Communication in a Medically Underserved Population

“…Our prior work has indicated that individuals with limited health literacy may be more interested in receiving an assessment of genomic risk based on genetic testing than those with higher health literacy (Kaphingst et al, 2015), and other researchers have found that genetics-related literacy may impact how patients evaluate the utility of genetic testing (Hooker et al, 2014). Assessing knowledge of the benefits of genetic technologies separately from knowledge of the limitations may be important to understand the association between health literacy and knowledge (Kaphingst, Facio, et al, 2012). …”

Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study

“…We designed a 100-item survey comprised largely of validated psychosocial measures from the behavioural health literature, including items from the Behavioral Risk Factor Surveillance System (2014),10 the multidimensional health locus of control scale11 and a scale measuring knowledge about the capabilities and limitations of genomic sequencing 12. We collected standard demographic variables and assessed previous experience with genetic testing, health literacy,13 self-reported health status14 and subjective assessment of discretionary income 15.…”

Perceived ambiguity as a barrier to intentions to learn genome sequencing results

“…It is also because we have much to learn about the genes we will be sequencing and the gene variants we find.” The informed consent also stated that, “We may find gene variants that are novel and of uncertain clinical importance…We will only report this type of gene variant to you if we can learn enough about it to make us believe that it can cause or contribute to disease.” Participants completed the informed consent process with a trained staff member. Research among a different subset of ClinSeq ® respondents demonstrated overall improvement in knowledge of the limitations of sequencing following the informed consent procedure, although accurate understanding was not universal (Kaphingst et al, 2012). The National Human Genome Research Institute’s Institutional Review Board reviewed and approved the study.…”