Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years

Background To address the need for more effective genomics training, beginning in 2012 the Icahn School of Medicine at Mount Sinai has offered a unique laboratory-style graduate genomics course, “Practical Analysis of Your Personal Genome” (PAPG), in which students optionally sequence and analyze their own whole genome. We hypothesized that incorporating personal genome sequencing (PGS) into the course pedagogy could improve educational outcomes by increasing student motivation and engagement. Here we extend our initial study of the pilot PAPG cohort with a report on student attitudes towards genome sequencing, decision-making, psychological wellbeing, genomics knowledge and pedagogical engagement across three course years. Methods Students enrolled in the 2013, 2014 and 2015 course years completed questionnaires before (T1) and after (T2) a prerequisite workshop (n = 110) and before (T3) and after (T4) PAPG (n = 66). Results Students’ interest in PGS was high; 56 of 59 eligible students chose to sequence their own genome. Decisional conflict significantly decreased after the prerequisite workshop (T2 vs. T1 p < 0.001). Most, but not all students, reported low levels of decision regret and test-related distress post-course (T4). Each year baseline decisional conflict decreased (p < 0.001) suggesting, that as the course became more established, students increasingly made their decision prior to enrolling in the prerequisite workshop. Students perceived that analyzing their own genome enhanced the genomics pedagogy, with students self-reporting being more persistent and engaged as a result of analyzing their own genome. More than 90% of respondents reported spending additional time outside of course assignments analyzing their genome. Conclusions Incorporating personal genome sequencing in graduate medical education may improve student motivation and engagement. However, more data will be needed to quantitatively evaluate whether incorporating PGS is more effective than other educational approaches. Electronic supplementary material The online version of this article (doi: 10.1186/s12920-018-0319-0) contains supplementary material, which is available to authorized users.

: Course and study timeline show questionnaires, decision-making, sequencing and data return.
Adapted from Linderman et al [3]. Table S1 and Table S2 list the measures administered in each questionnaire. The measures and any modifications are briefly described below and in more detail in prior publications [1,2].

Measures
Decisional Conflict: Decisional conflict was assessed with 16-item Decisional Conflict Scale (DCS) [4,5] as described in the user manual [5]. DCS item 10 was not included in the questionnaire and so was mean imputed from the remaining 15 items[1]. The total DCS has a range of 0-100; a score < 25 is associated with implementing a decision and a score > 37. 5 is associated with feeling unsure about a decision.
Satisfaction with Decision: Satisfaction with decision was measured with the Satisfaction with Decision Scale (SWD) [6]. The introductory text was adapted to the context of WGS decision-making. The total scale has a range of 1-5 with 1 indicating low satisfaction and 5 indicating high satisfaction with the decision. In a previous study of women's decisions regarding management of menopause and hormone replacement therapy, the mean (SD) SWD score 3.9 (0.60) [6].
Decision Regret: Decision regret was measure with the Decision Regret Scale (DRS) [7]. The total scale ranges from 0-100 with higher values indicating increased regret. Previously reported mean scores ranged from 8.5 to 25.4 among various patient cohorts who had made healthcare-related decisions [7].
Test-related Distress: Test-related distress was assessed with a modified version of the Multidimensional Impact of Cancer Risk Assessment (MICRA) [13]. We administered the 21 core items plus the items for respondents with children. As described previously, we adapted the measure items to be more relevant to WGS [2]. The MICRA Distress subscale comprises 6-items with total range of 0-30.
Objective Knowledge: Objective knowledge was assessed with a newly developed 10question multiple-choice test. All correct answers are required for the question to be considered correct and scored as 1. The "Don't know" option was scored as 0, the same as an incorrect response.  1 Two of these students dropped the course during the semester 2 Two of the students who enrolled without the option to obtain their genome dropped the course during the semester. 3 One of the students who enrolled without the option to obtain their genome dropped the course during the semester.

Year
If the course had an impact on your family, how?

2014
"Told my father about our Alzheimer's risk, which is the same as the general population for ApoE. We still have Alzheimer's in the family and therefore a higher risk, but it was still relieving to see that that locus was not involved." "My mother became extremely interested in the ancestry analysis, so much so that she ordered a 23andme kit to find out to explore her own." "I gave them some information about risks" 2015 "I think they are more knowledgeable and maybe curious." "Mother is much more concerned about a finding that I had and used it as an opportunity to bring up her hate for my father!" "They are thinking about it more than they were before." "I told my brother that I was a carrier for classical galactosemia which gave him anxiety because he and his wife are expecting a baby." "I found I was a carrier for something and shared the information with my family." "Tell my siblings they need carrier screening when reach childbearing age, prompt to check on EKG results."