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Maher et al. J Transl Genet Genom 2023;7:94-109 https://dx.doi.org/10.20517/jtgg.2023.04 Page 90

Figure 3. Self-rated understanding of a genomic test report excerpt. (A) Specialty workshops, (B) Blended learning course. Survey
question, including a report excerpt with VUS result: “How would you rate your understanding of the information presented in the
report excerpt?” Error bars: standard error of the proportion (SEp). For both programs, there was a significant difference in the
distributions of responses, shifting right from “Needs improvement” towards “Good”/“Very good”, from baseline to completion
2
2
(specialty workshops: X = 135.35, df = 4, P < 0.001; blended learning course: X = 46.35, df = 4, P < 0.001), and also from baseline to
2
2
follow-up for specialty workshops (X = 17.75, df = 4, P = 0.001) but not for the blended learning course (X = 6.05, df = 3, P = 0.109).

Figure 4. Understanding the implications of a genomic test result of a variant of unknown significance. (A) Specialty workshops, (B)
Blended learning course. Survey question, including a report excerpt with VUS result: “Could the referring doctor offer predictive testing
in this family?”. Error bars: standard error of the proportion (SEp). *Increase from baseline (using one-sided proportion test, comparing
the proportion correct versus incorrect/unsure combined): *P < 0.001, **P = 0.0012, ***P = 0.003.

Some respondents acknowledged that the education program illuminated gaps in their understanding:

“I still feel overwhelmed by the amount of knowledge WES [whole exome sequencing] gives and feel I need to
improve my knowledge of which panels to focus on. If anything I feel less confident but more aware of gaps to
address.” (Pediatric neurologist, specialty workshop, completion)

“[I have] better knowledge of when to refer to [discuss] with geneticist and interpretation of test results, but still
a lot to learn.” (Consultant Ophthalmologist, blended learning course, completion)

An actual change in practice was reported by 81% of respondents to the follow-up surveys (N = 291;
response rate 16.5%; Table 3); 76% of those who had attended a specialty workshop and 93% of those who
had attended the blended course. New activities since attending our education programs included referring
patients to a clinical genetics service, consulting a clinical genetics service for advice, requesting exome/
genome tests, and educating others about genomics.

Education aims and program feedback
At baseline, respondents were asked what they hoped to gain from completing a workshop or blended