Work Package 5

Delivering Personalised Medicine cross-borders: Implementation in healthcare systems and societal impact

Access to genomic and linked phenotypic data at scale has tremendous potential to effectively advance Personalised Medicine in healthcare systems. To fully realise this ambition, it is crucial that the genome and health data-sharing framework established by the B1MG can effectively reach healthcare systems in European Member States and beyond.

This is a challenging undertaking. Countries are at variable stages of maturity regarding genomic medicine programmes, and have diverse healthcare system infrastructures, processes and legislation. Many countries have not yet established national genomic medicine programmes, and the countries that have invested at either a national or regional level have different focus areas. These are often a given disease, such as rare diseases and/or cancer, although some are genomic profiling the general population towards prevention of common complex disorders.

For any healthcare system, the integration of genomic data for personalised medicine requires extensive adjustments. These adjustments include, but not limited to, the development of technical infrastructure, competences and ELSI frameworks, for acquiring, storing, sharing, interpreting and delivering genomic information. In addition, healthcare systems need to ensure efficacy benefits, economic viability, and equity in access.

For genomic data use to be successfully adopted by healthcare, it is fundamental that a close collaboration is established with healthcare systems stakeholders in each country. We need to understand the challenges and expectations of effective data sharing and data usage, so that the generated framework becomes useful and sustainable. This can be achieved by identifying the challenges and barriers in health systems to the efficient and sustainable use of shared genomic data.

The alignment of healthcare systems to a B1MG maturity level model will allow the mapping of the current situation and the identification of gaps and needs for progression within the model. This will lead towards better processes to take full advantage of genomic data in healthcare, data available from the 1+MG initiative framework. This recognition of a path to be followed will allow the definition of a roadmap of actions towards sustainability, to support the progression of healthcare systems in each country from the current situation to the target level, in a stepwise and iterative fashion.

One additional step for implementation of genomics into Personalised Medicine is the analysis of economic viability. This analysis is underdeveloped internationally, as most initiatives still have a major fundamental research component, and focus less on adoption by healthcare. The definition of harmonised methodology for economic evaluation across health systems will thus provide yet another tool to support the future implementation of genomic data in healthcare systems.

Objectives

Tasks

To understand the maturity of the adoption of genomic data in diverse healthcare systems, we will develop a B1MG maturity level model tool to which each country’s progress can be aligned, and that can then be used to systematically chart the evolution of health systems towards optimisation of the adoption processes.

This will require setting up best practice standards, and the development of a review framework for healthcare systems to evaluate effectiveness against these standards, identify areas of improvement and devise strategies to implement these. For this purpose, we will define SMART (Specific, Measurable, Achievable, Relevant, Timely) indicators to assess processes and outcomes that contribute to progress.

Standards and indicators will focus on multiple aspects of implementation, including technical requirements for genomic and health data acquisition and sharing processes, infrastructures, and ELSI guidelines, based on outputs from WP2, 3 and 4, and also literacy and education. The review systems and indicators will be co-created with the relevant 1+MG working groups, in particular the working groups for Health economics and outcome research (WG6) and for Use Cases Cancer, Rare diseases and Complex disorders/pharmacogenomics (WG8, 9, 10).

We will also consult with other country representatives and experts as needed, including policy makers, health managers, health professionals, and legal aids, to profile healthcare systems in selected case study countries, towards the alignment with the B1MG maturity level model. The result will be a dynamic expert network to support adoption of genomics into mainstream healthcare.

Participants: INSA (Astrid Vicente, Teresa C. Almeida, Mafalda Bourbon, Alexandra Costa), ELIXIR Hub (Serena Scollen), UT (Andres Metspalu).

Participants' roles: INSA: develop the B1MG maturity level model, including standards and indicators, and carry out the review/audits with each country. ELIXIR Hub: support the network of national representatives and mirror groups. UT: provide consultancy for the maturity level model development.

We will engage policy makers, health and other professionals from the expert network with effective influence in national healthcare systems to co-create a roadmap for the adoption of genomic data in healthcare. Development of the roadmap will also consider inputs from key stakeholders, taking advantage of the stakeholder group created in WP5.

The roadmap will be informed by the B1MG maturity level model, which incorporates the experiences of Use Cases as well as progress models of national healthcare systems, enabling each country to choose the most appropriate path to converge in a shared solution for the adoption of genomic data in healthcare.

The roadmap will address issues in the entire chain of value, including implementation of technical infrastructure for generating genomic data and delivery in clinical context, enactment of ELSI policies, promotion of synergies with research and industry, capacity building, sustainable financing and reimbursement models and healthcare policy development.

As such, the roadmap will provide a guidance tool to support the progression of healthcare systems along the B1MG maturity level model towards optimisation of infrastructure, processes and policy for sustainability. A strong effort will be made to promote the roadmap with key decision makers in governments, who have power regarding health investment decisions and strategic orientation of health systems.

Participants: INSA (Astrid Vicente, Teresa C. Almeida, Mafalda Bourbon, Alexandra Costa), ELIXIR Hub (Serena Scollen), UT (Andres Metspalu).

Participants' roles: INSA: develop the roadmap. ELIXIR Hub: support the network of national representatives and mirror groups. UT: provide consultancy for roadmap development.

Contributing to a sustainable implementation of personalised medicine in healthcare systems, this task will address health economics aspects of the adoption of genomics in healthcare.

The first objective is to harmonise and standardise economic evaluation models, in collaboration with Health Technology Assessment (HTA) experts. Economic evaluation models, including cost-efficiency estimations for genomic data using case studies, are underdeveloped so far, and harmonised methodology in Europe will generate comparable evidence across European healthcare systems that will promote genomic data adoption.

Multiple dimensions will be considered, including technical feasibility, economic indicators, and we will address conditions for public-private partnerships. Cases studies in cancer monitoring and intervention, diagnosis of rare diseases, including the specific setting of neonatal units, pharmacogenomics, common disorders like dyslipidemias or others will be tested in selected European Countries, allowing the development of a harmonised methodology that takes into consideration specificities of national health care systems.

For this purpose we will work closely with working groups from the 1+MG initiative, in particular the working groups for Health economics and outcome research (WG6) and for Use Cases Cancer, Rare diseases and Complex disorders/pharmacogenomics (WG8, 9, 10), mirror groups and other national health economics experts.

Participants: Lygature (Ilse Custers), INSA (Astrid Vicente, Teresa C. Almeida), UT (Andres Metspalu), ELIXIR Hub (Serena Scollen), ISCII (Esther Rodriguez)

Participants' roles: Lygature: coordinate the development of health economic evaluation models and testing in case studies. INSA: participate in case studies. UT: participate in case studies. ELIXIR Hub: support the network of national representatives and mirror groups.

We will organise a series of workshops and country exchange visits. These will be directed at key players in the co-creation of the roadmap to:

  1. improve understanding of the B1MG maturity level model, standards, indicators, and review processes, and
  2. promote knowledge exchange and capacity building towards the process of adoption of genomic data in healthcare. These will be focused on technical aspects developed by WP2, 3 and 4 (Processes, Infrastructures, ELSI), and taking advantage of exemplars in Europe (e.g. Genomics England and the National Health System (NHS), FinnGen and the Estonian Genome Center).

The main objective is fostering discussion and creative solutions around the roadmap, and an improved understanding of key actors about the implementation of genomics in healthcare systems.

Workshop 1 will take place in the mid to late stages of defining the B1MG maturity level model, standards and indicators but before starting reviews in selected case study countries, and will target national representatives of national healthcare systems. Workshop 2 will be carried out within the first year of the project to set up the basis, specific objectives and working models for Task 5.3.

Country exchange visits are intended as policy dialogues that include the site visit. They will also include extensive discussions of participants’ national healthcare systems, processes for adoption of genomic data in healthcare, and sustainability plans, so that a profitable interaction can be achieved towards shared solutions in the roadmap.

Discussion will focus on strategic aspects of the roadmap, including infrastructure, capacity building, ELSI, funding models, healthcare policy development and synergies with other sectors and industry. As a result, policy briefs and reports will be developed and adapted to national healthcare systems, to report on the outcomes of these visits of main relevance for each country. The country exchange visits will target policy makers and other national representatives and experts, including mirror groups members.

Participants: INSA (Astrid Vicente, Teresa C. Almeida, Alexandra Costa), LYGATURE (Ilse Custers), ISCIII (Esther Rodriguez, Pepa Lopez), ELIXIR Hub (Serena Scollen), UT (Andres Metspalu).

Participants' roles: INSA: host Workshop 1. LYGATURE: host workshop 2. INSA: organise country exchange visits. ISCIII: support the country visits. ELIXIR HUB: promote and support the country exchange visits. TAI and UT: host one country exchange visit.

Deliverables

Name Description Due
D5.1 B1MG maturity level model and country-specific alignment within the model.
Report on the maturity level model and profiling of selected national healthcare systems against the model including the main conclusions of the reviews regarding adoption of genomic data, the alignment with the model and the national goals and commitments to achieve within the maturity level model.
May 2022
D5.2 Roadmap and guidance tool for countries.
“Towards embedding genomic and health data shared by the 1+MG initiative into healthcare systems for effective implementation of Personalised Medicine”. Roadmap describes the overall strategy and main steps for the adoption of genomic data in healthcare systems, and will be disseminated as an overall report and policy briefs in several domains with potentially different target audiences: infrastructure, capacity building, ELSI, funding models and healthcare policy development.
May 2023
D5.3 Economic models methodology and case studies.
Lygature Report on harmonisation of economic evaluation models for application of genomic medicine in cancer, rare diseases, and for prevention of complex diseases.
November 2022

WP leaders

Astrid Vicente
Astrid Vicente (INSA)
Serena Scollen
Serena Scollen (ELIXIR Hub)

Participants

INSA, ELIXIR/EMBL/EBI, ISCIII, Univerity of Tartu, Lygature.

See also: