Table 3.

Enabling conditions for state-of-the-art delivery of genome-based testing.

	Issue	Goal	Description of Good Practice	Policy Example
Infrastructure
Creating communities of practice and healthcare system networks	Inequitable care delivery	▪Broad stakeholder agreement on appropriate use ▪Equitable care	▪Engagement across all stakeholders	The Australian Genomics Health Alliance, for example, is an attempt to accelerate and evaluate the application of genomic testing in healthcare. It is a “collaborative research partnership across more than 80 diagnostic laboratories, clinical genetics services, and research and academic institutions” [7].
Resource planning	Care interruptions, wait times or unsustainable care	▪Sustainable care delivery	▪Frequent (e.g., 1–3 years) reassessment ▪Available to all healthcare stakeholders	The US Government Accountability Office conducted a study forecasting a future shortfall of genetic counsellors and medical geneticists in general, and by geographic region [8].
Informatics	Uncoordinated or duplicative care, inconsistent test development, poor information for evaluation	▪Care coordination ▪Scientific insight –clinical discovery and health system performance	▪Across-region integration ▪Lab information integrated with electronic health record and healthcare evaluation function	The UK Department of Health & Social Care committed “£4 billion over a five-year period (2016-21) in digital technology, systems and infrastructure, to provide the health and care system with the digital capability and capacity it needs ….” [9].
Operations
Entry/exit point for innovation	Technology creep and poorly performing legacy technology	▪Appropriate health technology management	▪Open application and evaluation process ▪Proposals accepted from all stakeholders ▪Explicit timelines ▪Reassessment process	NHS England, has announced its decision to revisit tests annually, and considering the co-ordinated replacement of older tests with new and emerging approaches, including considering where evidence still needs to be collected to validate the benefit of moving to [whole-genome sequencing], and identifying where alternative genomic diagnostics, such as gene panels or microarrays, will continue to be needed [9].
Evaluative Function	Avoid low value care	▪Legitimacy in decision-making ▪Clear signal for innovators	▪Adherence to key principles in health technology assessment including transparency, timeliness and stakeholder engagement [10] ▪Consistent evaluative framework	An evaluative framework for genetic testing developed for the US Department of Defense recognized the practical need to triage adoption decisions based level on urgency through the use of rapid review and real-world evaluation of new tests [11].
Service models	Inequitable and inefficient care	▪Care coordination	▪Across-region coordination	NHS England Genomic Laboratory Hubs [12] and US Department of Veteran’s Affairs dedicated service centres for testing [13].
Awareness and care navigation	Confusion or lack of information regarding test availability	▪Access to care	▪Available, up-to-date information of test availability and how to access ▪Additional supports for care navigation	In France, where testing is more variable across regions, lists of different laboratory sites with contact information are provided [14].
Healthcare Environment
Integration of Innovation and Healthcare Delivery	Care lagging behind pace of care innovation and scientific advances	▪Maximize care value	▪Private public sector partnerships, and/or ▪Integration of investigational and established technology	UK and Australian private-public-sector partnerships [15,16]. In Ontario, Canada, reflex testing for newly diagnosed cases of NSCLC (adenocarcinoma/non-squamous) uses a panel consisting of established and investigational biomarkers [17]
Financing approach	Care interruptions, wait times or unsustainable care	▪Maximize care value ▪Access to care ▪Sustainable care delivery	▪Funds available once adoption decision made ▪Clear value-based, funding formula, amenable to reassessment ▪Funding for test development, additional human resource costs considered	The US Centers for Medicare and Medicaid Services (CMS) have attempted to incentivize molecular diagnostic innovation by enabling manufacturer-set free pricing for FDA-cleared or approved tests under certain conditions [18].
Education and Training	Inappropriate care; medical error; care lagging behind pace of care innovation	▪High quality workforce and care delivery	▪Training that addresses continuing professional development, knowledge transfer and quality improvement ▪Across-region educational standards	The Genomics Education Programme (GEP) in England plans to develop “genomic competencies for specialty training”, human resource planning, and providing supports for “curricula development and medical revalidatio” [9].
Regulation	Substandard care , negligence and legal liability	▪Minimize preventable harm to individuals from poor test quality	▪Regulation that addresses human resource qualifications and training, documentation of records, quality control processes, and proficiency testing [19,20,21]. ▪Across-region analytic standards	Regulation is typically addressed through accreditation processes that conform with the International Organization for Standardization (ISO) including ISO 15189 Medical Laboratories. Examples include regulation of clinical genetic testing through CLIA in the US and Canada
Data privacy and security	Inappropriate identification of patients and family members	▪Minimize preventable harm to individuals and families from testing	▪Framework that addresses privacy and security concerns from genetic testing ▪Across-region privacy standards	The Global Alliance for Genomics & Health, has created a Framework and “Core Elements for Responsible Data Sharing” [22].