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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 94

between genetic services and medical specialty services across hospitals. Both these elements support the
[34]
diffusion of innovation . The extent to which genomics education workshops do support the development
of new relationships and thus support the implementation of genomics warrants further investigation.

Assessing the broader impacts of genomics education is a well-recognized challenge [32,35-37] . Evaluation of
participants’ self-reported changes to practice through follow-up surveys is a common approach [32,38-42] .
Survey respondents in our education programs did report undertaking new genomic activities in their real-
world practice, including educating others in their discipline about genomics, and patient-related activities.
However, we cannot confidently ascertain the magnitude of change to practice. As is common with follow-
up surveys, we had a low response rate. In addition, many of our program participants worked in specialties
where opportunities to engage with genomic medicine might be limited. If we take a conservative approach
and assume all those who made a change responded to the follow-up survey, nearly 15% of participants
changed their practice within two years. Audits of clinical practice provide an objective measure of
impact [26,41,42] . However, the breadth of hospitals employing participants, diversity of referral pathways, and
limited electronic data sources rendered audits following our programs unfeasible. We therefore relied on
self-reported behavior change at long-term follow-up.

Although objective measures of application of knowledge following education have been developed for use
within a single specialty or setting [25,32,40,43,44] , it is challenging to design scenarios and questions that
adequately reflect clinical decisions relevant to diverse specialties and contexts, especially in a rapidly-
developing field such as genomic medicine. We co-developed a scenario and question to assess the
application of genomic knowledge to clinical care to evaluate our workshops. In common with other
continuing genomics education programs, we also included subjective measures of evaluation [8,28,29,40,44] . The
long-term follow-up survey was deployed during the COVID-19 pandemic. The additional demands on
health professionals at this time may have contributed to the lower response rate than the baseline and
completion surveys. Survey responses at completion and follow-up may also be biased towards participants
who are more confident in their genomic practice.

Education has a key role to play in the implementation and adoption of genomic medicine within a health
system. We intentionally describe the theories and design principles referenced during the development of
our education programs, and include detailed descriptions and Supplementary Materials for both the
education and its evaluation, to provide insights into potentially effective and widely-applicable workforce
development strategies . Online modules provide a highly scalable approach to workforce education,
[45]
including supporting access by health professionals who work in regional towns or remote areas. We
hypothesize that wholly online learning may be sufficient preparation for medical specialists to offer
genomic testing to patients who meet clear diagnostic criteria, such as hematuria with hearing and vision
involvement (Alport syndrome). However, nuanced clinical decision-making is required for pre-testing for
complex patient presentations and often post-testing - where test results must be interpreted in the context
of the patient’s presentation and may influence patient management. Participants in our programs
particularly valued workshop discussions with specialty and genetics experts for these aspects. Some
respondents also wanted more complex cases, which could be provided as optional program extensions in
the future.

Adoption of genomic medicine requires more than just genomic literacy. A key feature of our program was
the use of “peer experts” to co-design and deliver education. Peer experts can mediate and “translate” the
evidence for the use of genomics in a specialty and adapt clinical genetics practice as appropriate to the
[33]
specialty; this makes them important mediators of change . Using peer experts in both co-design and