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Figure 2. Changes in confidence in genomic processes. (A) Specialty workshops, (B) Blended learning course. 1 = “Needs
improvement”, 3 = “Good”, 5 = “Excellent”. SEM: Standard error of the mean. Sample size for each item differs. For specialty workshops,
n at baseline, completion, and follow-up, respectively: Phenotyping, 198, 210, 33; Types of test, 198, 211, 33; Right test for patient, 198,
211, 33; Referral pathways, 197, 180, 33; Interpret report, 195, 212, 33. For blended learning course, n at baseline, post-online,
completion, and follow-up, respectively: Phenotyping, 63, 38, 62, 15; Types of test, 63, 38, 62, 14; Right test for patient, 63, 38, 62, 14;
a
Referral pathways, 63, 38, 61, 14; Interpret report, 63, 38, 62, 14. *Increased above baseline, P < 0.02; increased from previous time
b
point, P < 0.02; no significant difference from previous time point (Wilcoxon rank-sum or one-sided t-test as appropriate).
Understanding of genomic testing and skills in interpreting test results
Survey respondents in both education programs showed a marked increase in self-rated understanding of
the genomic test report from baseline to completion [Figure 3]. “Good” or higher self-ratings tripled for
both specialty workshops (from 28% to 85%; Figure 3A) and blended learning (27% to 87%; Figure 3B), with
substantial declines in “Fair” and lower ratings. “Very good” self-ratings increased incrementally through
the different components of the blended learning course [Figure 3B]. At follow-up, self-rating of “Good”
was maintained for specialty workshop respondents, while self-rating of “Good” or higher declined overall
compared to completion (85% to 63% workshops; 87% to 58% blended).

Objective understanding of the clinical implications of a VUS result improved after both programs
[Figure 4]. The proportion of respondents that correctly identified that predictive testing cannot be offered
based on a VUS finding increased substantially through both programs (workshops 66%, P < 0.001,
Figure 4A; blended 82%, P = 0.001, Figure 4B). Correct responses remained at similar levels at follow-up
(72% workshops; 75% blended). However, some respondents remained “Unsure” after program completion
(22% workshops; 5% blended).

Changing genomic practice
At program completion, most specialty workshop respondents (90%; 186/206) and all blended learning
course respondents (62/62) anticipated incorporating skills into their professional roles:

“[I can now make a] more informed choice of genetic testing in neuromuscular disease” (Consultant
neurologist, blended learning course, completion)

“[I can now give] more consideration of the limitations of [genomic] testing” (Consultant pediatrician, blended
learning course, completion)

“[I now have] confidence to convey information and interpret reports” (Acute care specialist, specialty
workshop, completion)