Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study

Abstract

Background: Multiple laboratories now offer clinical whole genome sequencing (WGS). We anticipate WGS becoming routinely used in research and clinical practice. Many institutions are exploring how best to educate geneticists and other professionals about WGS. Providing students in WGS courses with the option to analyze their own genome sequence is one strategy that might enhance students' engagement and motivation to learn about personal genomics. However, if this option is presented to students, it is vital they make informed decisions, do not feel pressured into analyzing their own genomes by their course directors or peers, and feel free to analyze a third-party genome if they prefer. We therefore developed a 26-hour introductory genomics course in part to help students make informed decisions about whether to receive personal WGS data in a subsequent advanced genomics course. In the advanced course, they had the option to receive their own personal genome data, or an anonymous genome, at no financial cost to them. Our primary aims were to examine whether students made informed decisions regarding analyzing their personal genomes, and whether there was evidence that the introductory course enabled the students to make a more informed decision.

Methods: This was a longitudinal cohort study in which students (N = 19) completed questionnaires assessing their intentions, informed decision-making, attitudes and knowledge before (T1) and after (T2) the introductory course, and before the advanced course (T3). Informed decision-making was assessed using the Decisional Conflict Scale.

Results: At the start of the introductory course (T1), most (17/19) students intended to receive their personal WGS data in the subsequent course, but many expressed conflict around this decision. Decisional conflict decreased after the introductory course (T2) indicating there was an increase in informed decision-making, and did not change before the advanced course (T3). This suggests that it was the introductory course content rather than simply time passing that had the effect. In the advanced course, all (19/19) students opted to receive their personal WGS data. No changes in technical knowledge of genomics were observed. Overall attitudes towards WGS were broadly positive.

Conclusions: Providing students with intensive introductory education about WGS may help them make informed decisions about whether or not to work with their personal WGS data in an educational setting.

Figure 1

Trend relating to desire to analyze one’s personal genome in an advanced genome sequencing course. This was observed at three time points before an introductory genomics course (T1), after the introductory genomics course (T2) and before the subsequent advanced genomics course (T3) taken by 19 students at the Icahn School of Medicine at Mount Sinai during the 2012 summer and fall semesters. Desire to analyze their own genome did not change between T1 and T2 (Wilcoxon signed-rank test P = 0.16), but significantly increased between T1 and T3 (Wilcoxon signed-rank test P = 0.014), and between T2 and T3 (Wilcoxon signed-rank test P = 0.025).

Figure 2

Trends relating to decisional conflict overall scale and five subscales about using one’s personal genome in an advanced genome sequencing course. These were observed as part of a two-part genomics course taken by 19 students at the Icahn School of Medicine at Mount Sinai in 2012. All P values were calculated using paired samples t-tests. Lower scores indicate lower levels of decisional conflict. Scores are means with standard error bars displayed. (A) Decisional conflict about whether or not to get one’s own genome sequenced decreased over time between T1 and T2 (P < 0.001) and T1 and T3 (P < 0.001). The difference was not significant between T2 and T3 (P = 0.10). (B) Scores on the informed subscale decreased between T1 and T2 (P = 0.002) and between T1 and T3 (P < 0.001) indicating students felt more informed at T2 and T3 than they did at T1. (C) Scores on the effective decision-making subscale decreased between T1 and T2 (P = 0.001) and between T1 and T3 (P = 0.001), indicating students felt more satisfied with their decisions at T2 and T3 than they did at T1. (D) Scores on the support subscale decreased between T1 and T2 (P = 0.003) and between T1 and T3 (P = 0.003), indicating students felt more supported at T2 and T3 than they did at T1. (E) Scores on the values clarity subscale decreased between T1 and T2 (P = 0.012) and between T1 and T3 (P = 0.005), indicating students felt greater clarity about their values at T2 and T3 than they did at T1. (F) Scores on the uncertainty subscale decreased between T1 and T3 (P = 0.006), indicating students felt less uncertainty about their decisions at T3 than they did at T1.

Figure 3

Trends relating to decisional conflict individual items. (A) I feel I have made an informed choice. (B) I am choosing without pressure from others. (C) I have enough advice to make a choice. (D) I know the risks of each option. (E) I know the benefits of each option. (F) This decision is easy for me to make.