The vision

Governance

Country/region has a dedicated governanceThe process by which decisions are made and implemented. Governance is the process by which public institutions conduct public affairs and manage public resources. for genomics in healthcare

Priority

Genomics in healthcare is established as a priority at national/regional level

1. Genomics in healthcare is not included in national/regional health plans
2. Inclusion of genomics in healthcare in relevant national/regional health plans is under discussion
3. Genomics in healthcare is included in relevant national/regional health plans
4. Genomics in healthcare is implemented as part of national/regional health and other relevant plans (e.g. education, research)
5. Genomics in healthcare is implemented in health and other relevant plans, and is periodically evaluated for optimisation, taking into account novel developments at the international level

Strategy

There is a national/regional strategy for genomics in healthcare with a costed implementation planA multi-year roadmap that enables governments to prioritise interventions, engage stakeholders around one strategy, forecast costs and mobilise resources to meet identified gaps, namely to implement genomics in healthcare systems.

1. No genomics in healthcare strategy with costed implementation plan
2. A strategy for genomics in healthcare with costed implementation plan under discussion
3. A costed implementation plan for genomics in healthcare is developed and approved
4. The national/regional strategy for genomics in healthcare is under implementation
5. The national/regional strategy for genomics in healthcare is implemented, with monitoring and long term resources and aligned with European and international strategies

Investment

1. There is no established investment plan at the national or regional level for genomics in healthcare
2. Investment plans at the national or regional levels are under development
3. There is a national/regional investment plan for genomics in healthcare that is mostly dedicated to setting up infrastructure
4. There are national and/or regional investment plans for the regular operational costs of genomics in healthcare (e.g. for some rare diseases diagnostics, specific cancer treatments)
5. There is a national/regional investment plan for genomics in healthcare that incorporates innovation according to opportunities and international developments

Access and reimbursement

Data protectionCertainity that personal data is used fairly, lawfully and transparently – for specified, explicit purposes – in a way that is adequate, relevant and limited to only what is necessary, accurate and, where necessary, kept up-to-date, for no longer than is necessary, and handled in a way that ensures appropriate security, including protection against unlawful or unauthorised processing, access, loss, destruction or damage.

There are normsA set of principles of right action binding upon group members and serving to guide, control or regulate appropriate and acceptable behaviour. E.g. legislation, policies, professional regulations, codes of conduct. to protect and ensure the lawful, fair and transparent processing of personal dataData related to a living individual, who is likely to be identified by the data directly or combined with other data (e.g. through a pseudonym). [ref. Art. 4 GDPR]

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Quality of patient care involving genetic/genomic testing

There are norms ensuring the quality of genetic/genomic testing services (e.g. professional codes, self-regulatory bodies)

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Consent to genetic/genomic testing and genetic counselling

There are norms to ensure appropriate consent is obtained and counselling is provided in relation to genetic/genomic testing

Confidentiality, professional secrecy

There are norms protecting the confidentiality of patient genetic/genomic test results, and specifically clarifying where family members may have rights to access these results

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Preventing mis-use of genetic/genomic results

There are norms limiting genetic/genomic testing to legitimate purposes and preventing mis-use (e.g. no employer/insurer discrimination)

Health data reuseReuse, or secondary use, of health data for purposes other than the primary reason for which they were originally saved. Other purposes may include scientific research, development and innovation activities, teaching and statistics. and innovation

There is a national strategy for promoting health research and innovation, and associated data protectionCertainity that personal data is used fairly, lawfully and transparently – for specified, explicit purposes – in a way that is adequate, relevant and limited to only what is necessary, accurate and, where necessary, kept up-to-date, for no longer than is necessary, and handled in a way that ensures appropriate security, including protection against unlawful or unauthorised processing, access, loss, destruction or damage. rules allowing sharing and further processingThe processing of personal data for a different purpose(s) than the initially collected. of health/genetic dataGenetic data.
Personal data related to the inherited or acquired genetic characteristics of an individual, which give unique information about his/her physiology or health, that result from an analysis of a biological sample from the individual in question.
Personal data.
Related to the physical or mental health of an individual independent of its origin (e.g. healthcare context, research, clinical trials, the data subject directly, smart devices).
[ref. Art. 4 GDPR] for research or treating other patients

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Data sharing

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Coordinated research ethics oversight

There is a national (or regional if appropriate) research ethics committee or network to effectively and efficiently oversee the conduct of multicentre genetic/genomic studies

Biobanking

There are norms addressing the accreditation, registration, supervision, secure storage, and responsible use (including exchange and sharing) of human biological samples

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Awareness Public's level of understanding about the importance and implications of genomic medicine.

AcceptancePerceived usefulness of genomic medicine to patients. Recognition from citizens, patients and patients' associations of a positive impact of the use of genomic medicine on patients levels of satisfaction.

Synergies with patient associations are well established

Communication to the general public

Education

Genomics is integrated in general university curricula for medical doctors

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Genomics is integrated in general curricula for nurses

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Genomics is integrated in general curricula for pharmacists

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Careers in genomic medicine

There are officially recognised professional titles and career paths for genomic medicine

1. No workforce strategy or policy that recognises genomic medicine professionals, and distribution of professionals is ad hoc
2. Strategy or policy for genomic medicine professionals is proposed and under review
3. Strategy or policy for genomic medicine professionals is approved and under implementation
4. Strategy or policy for genomic medicine professionals is implemented, with full recognition and acceptance of career paths
5. Professional titles and career paths for genomic medicine professionals are flexible and regularly updated to incorporate needs from novel technologies and tools

There are training programmes for genetic counselling

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training graduates are available but not yet deployed
4. Training graduates are deployed, but essential personnel gaps remain
5. Sufficient numbers of training graduates are available to support evolving national/regional needs

There are life-long or continuing education programmes in genomic medicine for different healthcare professionals

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Policy makers

There are programmes for policy makers and healthcare managers to raise awareness on genomic medicine and its implications for healthcare

1. No or ad hoc
2. Needs assessed, gaps identified, program options under development
3. Programmes available, under implementation
4. Fully functional implementation of programmes at national level
5. Programmes are implemented and periodically evaluated for inclusion of novel tools and technologies

Information and Communications Technology (ICT) tools for clinical decision

1. ICT tools not available
2. ICT tools available in selected hospitals, frequently associated with research projects
3. ICT tools under wider implementation in healthcare systems following a strategy for genomic medicine
4. ICT tools implemented where needed as part of national/regional health systems strategies for genomic medicine
5. ICT tools implemented and periodically evaluated and optimised for novel tools and updates

Multidisciplinary teamsTeams comprised of individuals who span across different areas of expertise to cover all knowledge areas required for genomic medicine.

Clinical teams for genomic medicine are multidisciplinary and include ICT, biomedical and psychology experts

1. Not available
2. Teams are assembled in some hospitals as a bottom up initiative, but not all areas are covered or necessary tools are available
3. Guidelines for assembling multidisciplinary teams exist, and there are referral networks at regional/local level
4. Guidelines for assembling multidisciplinary teams and referral networks are implemented at regional/national level, aligned with a strategy for genomics in healthcare and with dedicated funding
5. Multidisciplinary teams are the norm for implementation of national genomics in medicine strategy and the guidelines for their assembly and operation, and referral networks, are reviewed and optimised periodically

Adoption of novel technologies and software tools to support clinical decisions is fit-for-purpose

1. No or ad hoc
2. Novel technologies and tools are selected and implemented locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. per hospital, laboratory)
3. There are plans and processes for adoption of novel technologies and tools to support clinical decision making, but not widely implemented at regional/national levels
4. Plans and processes for adoption of novel technologies and tools to support clinical decision making are centralised at the regional/national levels, and aligned with a national genomics in healthcare strategy
5. Plans and processes for adoption of novel technologies and tools to support clinical decision making are centralised at the regional/national levels, and aligned with a national genomics in healthcare strategy and with international standards

There are processes established for the integration of the clinics with research outcomes

1. No or ad hoc
2. Implemented at a local level, depending on individual initiative
3. Implemented at local and regional level according to a local strategy for integrating stakeholders and partnerships
4. Implemented at national level with well established partnerships, support from public funds and dedicated budget
5. Implemented at national and international level with well established partnerships, periodically evaluated, support from public funds and dedicated budget

1. No or ad hoc
2. Implemented at a local level, depending on individual initiative
3. Implemented at local and regional level according to a local strategy for integrating stakeholders and partnerships from the industry sector
4. Implemented at national level with well established partnerships, according to a national strategy for integration of industry stakeholders
5. Implemented with well established national and international partnerships, according to a national strategy for integration of industry stakeholders

Sequencing/ genotyping infrastructure

Genomic centres are established

1. No
2. Genomic centres are local (e.g. hospital, laboratory)
3. Genomic centres infrastructure networks are under development, to include common working guidelines and shared policies
4. Genomic centres infrastructure networks are implemented at the regional/national levels, and operate under common guidelines and policies
5. Genomic centres infrastructure networks are implemented at the regional/national levels, and operate under common guidelines and policies and aligned with global standards

Sequencing guidelines

Guidelines for sequencing are defined

1. No
2. Guidelines for sequencing data generation are available locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. hospital, laboratory, project)
3. Local level genomic sequence generation for clinical use is aligned with ISOThe International Organisation for Standardisation laboratory accreditation/protocols
4. Genomic sequence generation is co-ordinated at regional/national level and aligned with ISO laboratory accreditation/protocols
5. Genomic sequence generation at regional/national level is governed in alignment with ISO accreditation/protocols, reviewed periodically, and in line with international standards

Primary bioinformatics analysisThe initial analysis that turns the machine output of genomic sequencing into genomic information for clinical/research interpretation or other contexts.

Guidelines for genomic data analysis are defined

1. No
2. Guidelines for genomic data analysis are available at local/organisation level
3. Guidelines for genomic data analysis are available at the regional/national level
4. Standardised genomic analysis guidelines are implemented at national level and reviewed periodically
5. Standardised genomic analysis guidelines are implemented at national level, reviewed periodically and aligned with global standards

Structure of sequence-associated metadata

Guidelines for sequence-metadataData that provides information about other data, specifically about genomic-sequence data. structure to support clinical interpretation are established

1. No
2. Guidelines to structure metadata to meet clinical use cases are defined locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. at the hospital, laboratory level)
3. Guidelines to structure metadata to meet clinical use cases are defined regionally/nationally
4. Standardised guidelines to structure metadata to meet clinical use cases are implemented at the national level and are reviewed periodically
5. International guidelines to structure metadata to meet clinical use cases are followed, implemented at the national level and are reviewed periodically

Clinical interpretation

Guidelines for clinical interpretation of genomic resultsGuidelines for translating the technical output of a genetic or genomic test into potentially clinically actionable information. are defined.

1. No
2. Guidelines for clinical interpretation of genomic results are defined locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. at the hospital, laboratory level)
3. Guidelines for clinical interpretation of genomic results are defined regionally/nationally (e.g. by national genetics societies)
4. Guidelines for clinical interpretation of genomic results from internationally recognised bodies (e.g. ACMG, ClinGen) are implemented nationally
5. Guidelines for clinical interpretation of genomic results from internationally recognised bodies are implemented nationally, and there are interactions with these international bodies for guideline definition for specific diseases (e.g. ACMG, ClinGen)

Clinical reporting

Guidelines for clinical reporting of genomic resultsGuidelines for reporting the actionable results of a genetic or genomic test to the attending clinician and/or patient. are defined

1. No
2. Consistent clinical reporting guidelines are developed at an organisational level
3. National best practices for clinical reporting are defined and monitored, but not consistently enforced
4. National best practices for clinical reporting are enforced and monitored
5. Guidelines for clinical reporting are enforced at the national levels, in alignment with international standards and regularly reviewed based on changes in technological, regulatory and ethical considerations

Data security

Infrastructure and policies for data security are established

1. No
2. Security policies and infrastructure are defined at the organisation level
3. Security policies and infrastructure are nationally defined but not sufficiently enforced
4. Security policies and infrastructure are established under national regulation and fully enforced
5. Security policies follow international best practices for data security and are regularly reviewed based on changes in technological, regulatory and ethical considerations

Data discoverability (findable)

1. No
2. Guidelines for structuring metadata for datasets are established at the local level
3. Guidelines for structuring metadata for datasets established at the local level are documented and implemented, and their usage is tracked
4. Guidelines for structuring metadata for datasets are established nationally
5. Guidelines for structuring metadata for datasets are established nationally, and there is national level interaction with the development and adoption of international standards for dataset metadata structure and labelling

Data access management (accessible)

Data access governance framework is established

Data sharing policies and data flows are established

1. No
2. Data access granting is fully manual, with individual agreements created with each request
3. Standardised local data sharing policies are established, with limited data flows managed electronically
4. Electronic systems are implemented to support data sharing policies and are adopted nationally
5. Application for data access is semi-automated and follows international standards and there is national representation on the continued development of these standards

Reception and interfacesThis consists of two areas.
(1) Reception. Uniform processes (such as quality control and standardisation) to receive (download) or access (through API) both data and metadata in a consistent way, enabling infrastructures to adhere to global standards and principles for genotypic and phenotypic data. It includes logically describing datasets to the extent that they can become actionable on the infrastructure, even if they are stored nationally or locally.
(2) Interfaces. Organisations offer interfaces (APIs) following international standards that form the technically interoperable infrastructure backbone.
[Adapted from the 1+MG Scoping paper] (interoperable)

1. No
2. Guidelines for record structure for discovery are established at the local level
3. Guidelines for record structure for discovery established at the local level and are documented, implemented and their usage is tracked
4. Guidelines for record structure for discovery are established nationally and are documented, implemented and their usage is tracked
5. Guidelines for record structure are established nationally and there are national level interactions for the development and adoption of international standards for dataset structure for discovery

Guidelines for dataset structureThe dataset is formatted in a standard way to support interoperability, i.e. via use of international standards. are established

1. No
2. Guidelines for dataset structure and access for discovery are established at the local level
3. Guidelines for dataset structure and access for discovery established at the local level and are documented, implemented and their usage is tracked
4. Guidelines for record structure and access for discovery are established nationally and are documented, implemented and their usage is tracked
5. Guidelines for dataset structure and access are established nationally and there are national level interaction for the development and adoption of international standards for dataset structure and access for discovery

Data sharing infrastructure is established using a federated modelA distributed network of repositories for sharing genomic information.

1. No
2. Data sharing infrastructure is set up locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. by department or institution)
3. Data sharing infrastructure interoperates within the region
4. Data sharing infrastructure interoperates with infrastructures from other regions
5. Data sharing infrastructure interoperates with an international federation

Services for data receptionUniform processes (such as quality control and standardisation) to receive (download) or access (through API) both data and metadata in a consistent way, enabling infrastructures to adhere to global standards and principles for genotypic and phenotypic data. It includes logically describing datasets to an extent that they can become actionable on the infrastructure, even if they are stored nationally or locally. [Adapted from the 1+MG Scoping paper] to support interoperability are established

1. Genomic data services accept unstructured data without quality control measures
2. Genomic data services have quality control measures and formats implemented locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. by department or institution)
3. Genomic data services quality control measures and formats are implemented locally but all data received align with international standards
4. Genomic data services accept data only in formats agreed nationally/regionally and there is automatic quality control upon reception
5. All data received into genomic data services are automatically validated to ensure alignment with international standards

Processing and analysis (reusable)

A computational and data infrastructure for medical reuse and secondary data analysisThe use of existing data, collected for a prior study, to pursue a research interest that is different to that of the original work. is available

1. No
2. A computational and data infrastructure is available to support local analysis of data
3. A computational and data infrastructure is available to support transregional analysis of data
4. A computational and data infrastructure is in place to support national analysis of data
5. A computational and data infrastructure supports national analysis of data and is aligned with and supports cross-border data analysis

Governance
100%

Country/region has a dedicated governance bodyAgency/department/national working group with the legal mandate to establish and enforce legal, professional and behavioral norms of conduct, conventions and practices related to genomic medicine. for genomics in healthcare
86%

Priority
93%

Genomics in healthcare is established as a priority at national/regional level
93%

1. Genomics in healthcare is not included in national/regional health plans
2. Inclusion of genomics in healthcare in relevant national/regional health plans is under discussion
3. Genomics in healthcare is included in relevant national/regional health plans
4. Genomics in healthcare is implemented as part of national/regional health and other relevant plans (e.g. education or research)
5. Genomics in healthcare is implemented in health and other relevant plans, and is periodically evaluated for optimisation, taking into account novel developments at the international level

Strategy
100%

There is a national/regional strategy for genomics in healthcare with a costed implementation planA multi-year roadmap that enables governments to prioritise interventions, engage stakeholders around one strategy, forecast costs and mobilise resources to meet identified gaps, namely to implement genomics in healthcare systems.
93%

1. No genomics in healthcare strategy with costed implementation plan
2. A strategy for genomics in healthcare with costed implementation plan under discussion
3. A costed implementation plan for genomics in healthcare is developed and approved
4. The national/regional strategy for genomics in healthcare is under implementation
5. The national/regional strategy for genomics in healthcare is implemented, with monitoring and long term resources

Investment
93%

1. There is no established public funding for genomics in healthcare
2. Public funding for genomics in healthcare is allocated locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. at hospital level)
3. There is a national/regional investment plan for genomics in healthcare that is mostly dedicated to setting up infrastructure
4. There is a national/regional investment plan for the regular operational costs of genomics in healthcare (e.g. rare diseases diagnostics, cancer treatment)
5. There is a national/regional investment plan for genomics in healthcare that incorporates innovation according to opportunities and international developments

Access and reimbursement
100%

Data protectionCertainity that personal data is used fairly, lawfully and transparently – for specified, explicit purposes – in a way that is adequate, relevant and limited to only what is necessary, accurate and, where necessary, kept up-to-date, for no longer than is necessary, and handled in a way that ensures appropriate security, including protection against unlawful or unauthorised processing, access, loss, destruction or damage.
86%

There are normsA set of principles of right action binding upon group members and serving to guide, control or regulate appropriate and acceptable behaviour. E.g. legislation, policies, professional regulations, codes of conduct. to protect and ensure the lawful, fair and transparent processing of personal dataData related to a living individual, who is likely to be identified by the data directly or combined with other data (e.g. through a pseudonym). [ref. Art. 4 GDPR]
86%

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Quality of patient care involving genetic/genomic testing
86%

There are norms ensuring the quality genetic/genomic testing services (e.g. professional codes, self-regulatory bodies)
79%

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Consent to genetic/genomic testing and genetic counselling
86%

There are norms to ensure appropriate consent is obtained and counselling is provided in relation to genetic/genomic testing
92%

Confidentiality, professional secrecy
86%

There are norms protecting the confidentiality of patient genetic/genomic test results, and clarifying where family members may have rights to access these results
86%

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Preventing mis-use of genetic/genomic results
93%

There are norms limiting genetic/genomic testing to legitimate purposes and preventing mis-use (e.g. no employer/insurer discrimination)
93%

Health data reuseReuse, or secondary use, of health data for purposes other than the primary reason for which they were originally saved. Other purposes may include scientific research, development and innovation activities, teaching and statistics. and innovation
86%

There is a national strategy for promoting health research and innovation, and associated data protectionCertainity that personal data is used fairly, lawfully and transparently – for specified, explicit purposes – in a way that is adequate, relevant and limited to only what is necessary, accurate and, where necessary, kept up-to-date, for no longer than is necessary, and handled in a way that ensures appropriate security, including protection against unlawful or unauthorised processing, access, loss, destruction or damage. rules allowing sharing and further processingThe processing of personal data for a different purpose(s) than the initially collected. of health/genetic dataGenetic dataPersonal data related to the inherited or acquired genetic characteristics of an individual, which give unique information about his/her physiology or health, that result from an analysis of a biological sample from the individual in question.
Health data
Personal data related to the physical or mental health of an individual independent of its origin (e.g. healthcare context, research, clinical trials, the data subject directly, smart devices).
[ref. Art. 4 GDPR] for research or treating other patients
86%

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Data sharing
93%

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Coordinated research ethics oversight
86%

There is a national research ethics committee or network to effectively and efficiently oversee the conduct of multicentre genetic/genomic studies
93%

Biobanking
100%

There are norms addressing the accreditation, registration, supervision, secure storage, and responsible use of human biological samples
93%

1. Norms (e.g. legislation, policies, professional regulations, codes of conduct) do not exist
2. Norms are implemented but insufficient in scope
3. Norms are implemented but not yet consistently enforced
4. Norms are implemented and consistently enforced
5. Norms are implemented, enforced and fit-for-purpose

Awareness Public's level of understanding about the importance and implications of genomic medicine.
86%

AcceptancePerceived usefulness of genomic medicine to patients. Recognition from citizens, patients and patients' associations of a positive impact of the use of genomic medicine on patients levels of satisfaction.
93%

Synergies with patient associations are well established
86%

Communication to the general public
86%

Education
86%

Genomics is integrated in general university curricula for medical doctors
93%

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Genomics is integrated in general curricula for nurses
93%

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Genomics is integrated in general curricula for pharmacists
93%

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Careers in genomic medicine
93%

There are officially recognised professional titles and career paths for genomic medicine
86%

1. No workforce strategy or policy that recognises genomic medicine professionals, and distribution of professionals is ad hoc
2. Strategy or policy for genomic medicine professionals is proposed and under review
3. Strategy or policy for genomic medicine professionals is approved and under implementation
4. Strategy or policy for genomic medicine professionals is implemented, with full recognition and acceptance of career paths
5. Professional titles and career paths for genomic medicine professionals are flexible and regularly updated to incorporate needs from novel technologies and tools

There are training programmes for genetic counselling
86%

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training graduates are available but not yet deployed
4. Training graduates are deployed, but essential personnel gaps remain
5. Sufficient numbers of training graduates are available to support evolving national/regional needs

There are life-long or continuing education programmes in genomic medicine for different healthcare professionals
93%

1. No or ad hoc
2. Needs assessed, gaps identified, training options under development
3. Training available, under implementation
4. Training available and widely implemented
5. Training curricula regularly updated to incorporate novel technologies and tools

Policy makers
86%

There are programmes for policy makers and healthcare managers to raise awareness on genomic medicine and its implications for healthcare
86%

1. No or ad hoc
2. Needs assessed, gaps identified, program options under development
3. Programmes available, under implementation
4. Fully functional implementation of programmes at national level
5. Programmes are implemented and periodically evaluated for inclusion of novel tools and technologies

Information and Communications Technology (ICT) tools for clinical decision
86%

1. ICT tools not available
2. ICT tools available in selected hospitals, frequently associated with research projects
3. ICT tools under wider implementation in healthcare systems following a strategy for genomic medicine
4. ICT tools implemented where needed as part of national/regional health systems strategies for genomic medicine
5. ICT tools implemented and periodically evaluated and optimised for novel tools and updates

Multidisciplinary teamsTeams comprised of individuals who span across different areas of expertise to cover all knowledge areas required for genomic medicine.
93%

Clinical teams for genomic medicine are multidisciplinary and include ICT and biomedical experts
86%

1. Not available
2. Teams are assembled in some hospitals as a bottom up initiative, but not all areas are covered or necessary tools are available
3. Guidelines for assembling multidisciplinary teams exist, and there are referral networks at regional/local level
4. Guidelines for assembling multidisciplinary teams and referral networks are implemented at regional/national level, aligned with a strategy for genomics in healthcare and with dedicated funding
5. Multidisciplinary teams are the norm for implementation of national genomics in medicine strategy and the guidelines for their assembly and operation, and referral networks, are reviewed and optimised periodically

Adoption of novel technologies and software tools to support clinical decisions is fit-for-purpose
86%

1. No or ad hoc
2. Novel technologies and tools are selected and implemented locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. per hospital, laboratory)
3. There are plans and processes for adoption of novel technologies and tools to support clinical decision making, but not widely implemented at regional/national levels
4. Plans and processes for adoption of novel technologies and tools to support clinical decision making are centralised at the regional/national levels, and aligned with a national genomics in healthcare strategy
5. Plans and processes for adoption of novel technologies and tools to support clinical decision making are centralised at the regional/national levels, and aligned with a national genomics in healthcare strategy and with international standards

There are processes established for the integration of the clinics with research outcomes
86%

Sequencing/ genotyping infrastructure
86%

Genomic centres are established
93%

1. No
2. Genomic centres are local (e.g. hospital/lab)
3. Genomic centres infrastructure networks are under development, to include common working guidelines and shared policies
4. Genomic centres infrastructure networks are implemented at the regional/national levels, and operate under common guidelines and policies
5. Genomic centres infrastructure networks are implemented at the regional/national levels, and operate under common guidelines and policies and aligned with global standards

Sequencing guidelines
93%

Guidelines for sequencing are defined
93%

1. No
2. Guidelines for sequencing data generation are available locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. hospital/lab/project)
3. Local level genomic sequence generation for clinical use is aligned with ISOThe International Organisation for Standardisation laboratory accreditation/protocols
4. Genomic sequence generation is co-ordinated at regional/national level and aligned with ISO laboratory accreditation/protocols
5. Genomic sequence generation at regional/national level is governed in alignment with ISO accreditation/protocols, reviewed periodically, and in line with international standards

Primary bioinformatics analysisThe initial analysis that turns the machine output of genomic sequencing into genomic information for clinical/research interpretation or other contexts.
100%

Guidelines for genomic data analysis are defined
100%

1. No
2. Guidelines for genomic data analysis are available at local/organisation level
3. Guidelines for genomic data analysis are available at the regional/national level
4. Standardised genomic analysis guidelines are implemented at national level and reviewed periodically
5. Standardised genomic analysis guidelines are implemented at national level, reviewed periodically and aligned with global standards

Structure of sequence-associated metadata
93%

Guidelines for sequence-metadataData that provides information about other data, specifically about genomic-sequence data. structure to support clinical interpretation are established
93%

1. No
2. Guidelines to structure metadata to meet clinical use cases are defined locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. at the hospital or laboratory level)
3. Guidelines to structure metadata to meet clinical use cases are defined regionally/nationally
4. Standardised guidelines to structure metadata to meet clinical use cases are implemented at the national level and are reviewed periodically
5. International guidelines to structure metadata to meet clinical use cases are followed, implemented at the national level and are reviewed periodically

Clinical interpretation
100%

Guidelines for clinical interpretation of genomic resultsGuidelines for translating the technical output of a genetic or genomic test into potentially clinically actionable information. are defined.
100%

1. No
2. Guidelines for clinical interpretation of genomic results are defined locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. at the hospital or laboratory level)
3. Guidelines for clinical interpretation of genomic results are defined regionally/nationally (e.g. by national genetics societies)
4. Guidelines for clinical interpretation of genomic results from internationally recognised bodies (e.g. ACMG) are implemented nationally
5. Guidelines for clinical interpretation of genomic results from internationally recognised bodies are implemented nationally, and there interactions with these international bodies for guideline definition for specific diseases (e.g. ACMG/ClinGen)

Clinical reporting
100%

Guidelines for clinical reporting of genomic resultsGuidelines for reporting the actionable results of a genetic or genomic test to the attending clinician and/or patient. are defined
93%

1. No
2. Consistent clinical reporting guidelines are developed at an organisational level
3. National best practices for clinical reporting are defined and monitored, but not consistently enforced
4. National best practices for clinical reporting are enforced and monitored
5. Guidelines for clinical reporting are enforced at the national levels, in alignment with international standards and regularly reviewed based on changes in technological, regulatory and ethical considerations

Data security
93%

Infrastructure and policies for data security are established
100%

1. No
2. Security policies and infrastructure are defined at the organisation level
3. Security policies and infrastructure are nationally defined but not sufficiently enforced
4. Security policies and infrastructure are established under national regulation and fully enforced
5. Security policies follow international best practices for data security and are regularly reviewed based on changes in technological, regulatory and ethical considerations

Data discoverability (findable)
93%

1. No
2. Guidelines for structuring metadata for datasets are established at the local level
3. Guidelines for structuring metadata for datasets established at the local level are documented and implemented, and their usage is tracked
4. Guidelines for structuring metadata for datasets are established nationally
5. Guidelines for structuring metadata for datasets are established nationally, and there is national level interaction with the development and adoption of international standards for dataset metadata structure and labelling

Data access management (accessible)
93%

Data access governance framework is established
86%

1. No
2. Data access governance is established locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. by department or institution)
3. Scope of data access governance is defined nationally, with stakeholder consultation
4. Data access governance is led centrallyBased within a national or regional node., fully functional, and implementation is monitored based on a national work plan
5. Data access governance structure is institutionalised, protected from interference or organisational changes, and open to novel developments

Reception and interfacesThis consists of two areas.
(1) Reception. Uniform processes (such as quality control and standardisation) to receive (download) or access (through API) both data and metadata in a consistent way, enabling infrastructures to adhere to global standards and principles for genotypic and phenotypic data. It includes logically describing datasets to the extent that they can become actionable on the infrastructure, even if they are stored nationally or locally.
(2) Interfaces. Organisations offer interfaces (APIs) following international standards that form the technically interoperable infrastructure backbone.
[Adapted from the 1+MG Scoping paper] (interoperable)
86%

1. No
2. Guidelines for record structure for discovery are established at the local level
3. Guidelines for record structure for discovery established at the local level and are documented, implemented and their usage is tracked
4. Guidelines for record structure for discovery are established nationally and are documented, implemented and their usage is tracked
5. Guidelines for record structure are established nationally and there are national level interactions for the development and adoption of international standards for dataset structure for discovery

Guidelines for dataset structureThe dataset is formatted in a standard way to support interoperability, i.e. via use of international standards. are established
79%

1. No
2. Guidelines for dataset structure and access for discovery are established at the local level
3. Guidelines for dataset structure and access for discovery established at the local level and are documented, implemented and their usage is tracked
4. Guidelines for record structure and access for discovery are established nationally and are documented, implemented and their usage is tracked
5. Guidelines for dataset structure and access are established nationally and there are national level interaction for the development and adoption of international standards for dataset structure and access for discovery

Data sharing infrastructure is established using a federated modelA distributed network of repositories for sharing genomic information.
79%

1. No
2. Data sharing infrastructure is set up locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. by department or institution)
3. Data sharing infrastructure interoperates within the region
4. Data sharing infrastructure interoperates with infrastructures from other regions
5. Data sharing infrastructure interoperates with an international federation

Services for data receptionUniform processes (such as quality control and standardisation) to receive (download) or access (through API) both data and metadata in a consistent way, enabling infrastructures to adhere to global standards and principles for genotypic and phenotypic data. It includes logically describing datasets to an extent that they can become actionable on the infrastructure, even if they are stored nationally or locally. [Adapted from the 1+MG Scoping paper] to support interoperability are established
79%

1. Genomic data services accept unstructured data without quality control measures
2. Genomic data services have quality control measures and formats implemented locallyWithin a single institution, i.e. not beyond a lab, department or hospital. (e.g. by department or institution)
3. Genomic data services quality control measures and formats are implemented locally but all data received align with international standards
4. Genomic data services accept data only in formats agreed nationally/regionally and automatically quality controlled upon reception
5. All data received into genomic data services are automatically validated to ensure alignment with international standards

Processing and analysis (reusable)
93%

Computational and data infrastructure for medical reuse and secondary data analysisThe use of existing data, collected for a prior study, to pursue a research interest that is different to that of the original work. is available
86%

1. No
2. Computational and data infrastructure is available to support local analysis of data
3. Computational and data infrastructure is available to support trans-regional analysis of data
4. A national computational and data infrastructure is in place to support national analysis of data
5. The national computational and data infrastructure supports national analysis of data and is aligned with and supports cross-border data analysis