Table 3 Opportunities for international collaborations.
Evidence generation
Catalog ongoing evidence-generating projects
Assess availability of data and specimens
Define standards for evidence
Establish standards for genetic and genomic tests
Encourage development of professional practice guidelines
Identify countries/systems willing to enable access to patient data
Develop systems to capture outcomes from EMRs and other clinical systems
Health information technology
Define key elements that should be stored in EMR
Identify and share existing IT solutions that are more robust and generalizable (clinical decision support, variant databases, informatics pipelines)
Develop global resource for actionable clinical variants
Define and link necessary federated databases needed to implement genomic medicine
Collect and aggregate gene and variant data [for example, Exome Aggregation Consortium (ExAC), ClinVar]
Develop controlled vocabulary for phenotypes (ontology); identify available ontologies
Establish clearinghouse of genomic medicine implementation guidelines
Education/workforce development
Genomics professionals
○ Collect data on genomic professional workforce and training in different countries
○ Summarize existing workforce surveys and conduct new ones as needed
○ Share competencies and training paradigms
○ Compare training paradigms for geneticists and identify best practices
○ Examine extending current capabilities by telemedicine and other remote approaches
Other health professionals
○ Examine curricula and determine where genetics competency training can be accommodated
○ Define necessary genomic competencies for trainees at completion of training, which may differ across regions/countries
○ Deploy new educational tools, such as distance learning
○ Develop region/country-specific teaching materials, perhaps on common templates
○ Adapt existing products and activities, such as DNA Day, to specific cultures
○ Extend to students at secondary school level
○ Engage patient support groups to sponsor programs, develop and distribute educational materials
○ Provide clearinghouse for accumulated educational resources
○ Consider novel educational paradigms
Promote improved quality-of-evidence base for pharmacogenomics implementation
Prioritize for study and implementation inexpensive drugs with risk of treatment failure or severe adverse drug reactions likely to be limited to genetically defined subset
Develop and pilot large-scale implementation project around successful programs such as global eradication of genetically mediated SJS/TEN
Data sharing and regulatory issues
○ Map current activities and issues being addressed
○ Perform gap analysis
○ Establish “network of networks” in policy development to share information
Costs and benefits
○ Identify burdens of disease and points in care pathway where genomic tools would integrate and have the greatest impact on outcomes
○ Improve capacity for conducting convincing economic, feasibility, and sustainability analyses
○ Perform economic, feasibility, and sustainability analyses from perspective of different stakeholders, such as payers, delivery systems, national health services
○ Engage payers and payment decision processes
○ Work in and learn from systems with one or a few centralized payers