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Table 1. Common learning objectives in clinical genomics

• Identify patients suitable for genomic testing
• Understand the importance of family history
• Recognise the importance of detailed phenotyping
• Discriminate between different genomic tests, e.g., chromosomal microarray, multigene panel, NGS exome or genome sequencing, and select
the right test for the patient, based on their purpose (indication), advantages and limitations
• Interpret a genomic test report
• Review the variant classification scheme (ACMG and AMP Guidelines) and the evidence-based foundation of the scheme (pathogenic; likely
pathogenic; uncertain significance (“VUS”); likely benign; benign)
• Apply appropriate clinical action based on a genomic test result, e.g., changes to patient management, segregation testing, prenatal screening,
or cancer therapy

Table 2. Format of the specialty workshops and blended learning course. All content included text and visuals. Online content also
included animations, videos, and knowledge checks. Registrants for both programs also had access to online interactive resources
and downloads available at https://learn-genomics.org.au
Content Specialty workshops Blended learning course
Foundational genetics and Pre-reading ~30 min Module 1 ~25 min
genomics theory • Introduction • Genomics-Background Biology e-book, including
• DNA, chromosomes, and genes links to animations and glossary
• Reading the code to make proteins • Video of workshop Introductory presentation
• Genomic variants • What is genomic testing?
• Genetic and genomic tests • What is the utility of genomic testing?
• Downloadable infographic of genetic and
Foundational concepts of Introductory presentation 20 min
genomic medicine • DNA, chromosomes genomic testing pipelines
• Genes and proteins
Pre-test aspects Module 2 ~35 min
• Genetic and genomic tests • Knowing your test options
• Genomic sequencing • The right patient
• Classifying variants
• The right test
• Interpreting reports • Pre-test counseling
• Clinical action
• Ordering genomic tests
Post-test aspects Module 3 ~25 min
• Variant identification, curation, and classification
• Interpreting microarray reports
• Interpreting exome reports
• Post-test counseling
Somatic (cancer) genomics - Module 4 ~30 min
• Introduction
• Pre-test aspects of somatic (cancer) genomics
• Variant interpretation (germline)
• Variant interpretation (cancer)
• Post-test aspects: interpreting somatic (cancer)
reports; actionability; genetic counseling
Case study applications of Specialty-specific 20-30 min/case Generic ~30 min/case
a • 3-4 specialty-specific cases per 2 h workshop,
genomic medicine • 4 cases per 2 h workshop, interspersed with
interspersed with expert-facilitated small group expert-facilitated small group discussions
discussions
a
More details of the case presentations are provided in Supplementary Materials.
Blended learning course
The course commenced with four online modules that covered foundational biology and genetics, and
principles of genomic testing and variant interpretation in greater detail than that provided in the specialty
workshop pre-reading [Table 2]. The modules addressed both germline and somatic (cancer) genomic
testing. Registrants were encouraged to complete online modules over a four-week period (August 2019),
with face-to-face workshops held after two weeks. Registrants could choose to attend one or two of three
two-hour workshops. Each consisted entirely of CBL using “generic” cases designed to be accessible to a
range of specialists while illustrating the principles of genomic testing: germline pediatric genomics,
germline adult genomics, and/or somatic (cancer) genomics.