A Roadmap for Personalized Medicine: the findings of the IC2PerMed Project

doi:10.21203/rs.3.rs-4643972/v1

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A Roadmap for Personalized Medicine: the findings of the IC2PerMed Project

https://doi.org/10.21203/rs.3.rs-4643972/v1

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Personalized medicine (PM) tailors prevention and treatment to individuals based on their unique characteristics. It can improve health outcomes and healthcare sustainability by optimizing resource allocation. The European Union (EU) and China both prioritize PM. The IC2PerMed project aims to facilitate collaboration by developing a PM roadmap.

This paper presents the main project’s output, a roadmap for implementing PM in the EU and China, promoting best practice exchange, and addressing potential barriers.

We assessed PM in the EU and China by mapping policies, programs, funding mechanisms, and health ecosystems. Three Delphi surveys highlighted 65 priorities, which were synthesized into actions.

The study identifies priorities to unlock PM's potential for healthcare transformation and better public health. The roadmap includes structural actions, like enhancing health literacy, fostering intersectoral and international collaboration, continuously reviewing technologies, and facilitating innovation market entry through needs assessment and Health Technology Assessment. Data interoperability and shared standards are critical for creating international platforms, and ethical, social, and regulatory considerations are universal in PM processes.

A shared action plan can guide health policy and help policymakers understand the interconnection between healthcare, the economy, and society. By supporting international projects and investing in research and innovation, stakeholders can advance global healthcare.

Personalized medicine

Roadmap

China

European Union

Priorities

Since the completion of the Human Genome Project two decades ago, significant advances in genomic medicine and the incorporation of genomic information in diagnostic, treatment, and reimbursement practices contributed to reshaping medical practice [1, 2]. It started the so-called genomic revolution and the field of Personalized Medicine (PM), described as tailoring prevention, diagnostic methods and therapies based on patient’s genetic and lifestyle characteristics [3–5]. Shifting away from the traditional "one size fits all" approach, PM offers more precise and effective treatments and better outcomes, leading to advantages for healthcare professionals and systems in terms of quality of care and sustainability [6, 7]. The European Union (EU) issued several policies to foster the adoption of PM, such us digital innovation and interoperability, patients'/citizens' engagement and healthcare sustainability [8, 9]. Starting in 2015 with the definition of PM, the EU recognized the potential of PM and placed it at the forefront of its research agenda, supporting projects spanning the entire value chain of PM and promoting international collaborations through the International Consortium of Personalized Medicine (ICPerMed) [8, 9].

In the global networks, explored by specific Coordination and Support Actions funded by the EU Commission, the EU objectives in PM align with China [10], where the adoption and promotion of PM followed similar steps to the European scenario.

The Chinese attention to PM is testified by its inclusion in the 13th Five-Year Plan (2016–2020) and the following 14th Five-Year Plan (2021–2024), as well as in the Healthy China 2030 initiative. The country is committed to addressing the burden of non-communicable diseases and healthcare inequalities through substantial investments in multisector collaboration and innovation, particularly in cancer, promoting health education, raising awareness, improving early diagnosis, and enhancing treatment effectiveness. In addition, these plans address disparities in economic development and healthcare access across different regions of China, providing financial support, encouraging research and development, and creating a favourable regulatory framework [11, 12].Considering these similarities, the ICPerMed launched in 2020 the "Integrating China in the International Consortium for Personalized Medicine" (IC2PerMed) project, ultimately aiming at encouraging collaboration and integration in the network [8]. Laying its methodology foundation in the “ICPerMed Vision for 2030” [13], the IC2PerMed project supports research, funding, and implementation of innovative PM approaches, with the overarching goal of establishing a preferential exchange platform between the EU and China [14]. This comprehensive roadmap for PM implementation across both regions outlines action priorities to facilitate the exchange of best practices and address potential barriers, to deepen and promote alignment for the creation of a common ground for European and Chinese collaborations on PM.

The ICPerMed approach has been used as a guiding framework during the whole conduction of the project. The activities were organised in four phases (Fig. 1):

Mapping: identifying Chinese and EU PM-relevant policies, programs, stakeholders, actors and standards, to consider and involve in developments, envisioning benefits for healthcare ecosystems and for populations;

Expertising: building upon exchange between experts’ domains for fostering actionable approaches;

Exemplifying: setting concrete practices of collaboration over a PM core theme (biobanks) for illustrating and inspiring research collaborations;

Engaging: creating solid bridges with European, Chinese and global key stakeholders, integrating Chinese stakeholders in ICPerMed and liaising with international peers.

The IC2PerMed Roadmap is the result of a three-step methodology:

Mapping and experts’ survey
Workshops and Delphi survey of experts
Theme analyses and results synthesis into actions

Mapping and survey of experts

A literature mapping explored the current landscape of PM implementation, relevant policies, projects, initiatives, standards and regulations in the EU and China. Findings were revised and expanded through a survey of 47 experts, from EU and China, exploring the main areas of interest and the international collaborations in place [10]. The results were disseminated in scientific papers and publicly available deliverables [9, 14–17].

Workshops and Delphi survey of experts

As reported in the introduction section, the project’s structure followed the classification laid out in the ICPerMed Vision for 2030 [12]. The subsequent work was articulated in three pillars:

Shaping sustainable healthcare
Innovation and market
Research and clinical studies in PM.

Three working groups (WGs) were established, each addressing the challenges of one of the three pillars, respectively:

Shaping sustainable healthcare, focusing on Developing awareness and empowerment of patients and citizens, education and training of healthcare professionals and healthcare sustainability;
Innovation and market, focusing on Big data and Information Communications and Technology (ICT) solutions and Bringing innovation to market;
Research and clinical studies in PM, focusing on Translating basic to clinical research and beyond and research funding.

Each WG organized three rounds of workshops to discuss preliminary priorities, identify potential gaps in literature results and up-to-date evidence on laws and guidelines, and bring important topics left out from the mapping into the discussion. Finally, nine workshops took place [18].

The preliminary results obtained in each of the three WGs were further evaluated in three Delphi surveys, one for each main pillar of discussion. The consensus was reached after two rounds for each Delphi survey, and some priorities were identified.

The detailed methodology and the resulting list of 65 priorities were reported in four position papers [19–22].

Theme analyses and results synthesis into IC2PerMed actions

For each pillar, a theme analysis on the identified priorities was performed, using the NVivo software (version 12). The final 65 priorities, derived from the position papers, were consequently merged into IC2PerMed actions that fed our roadmap, coding them according to the sub-topic they dealt with.

The results are presented qualitatively, reporting the coded sub-topics as bullet points.

The study protocol was approved by the Università Cattolica del Sacro Cuore Ethical Review Board (ID5249).

The actions of the IC2PerMed Roadmap are reported according to the three main pillars in the Table 1. For each pillar, the actions were further grouped according to the main priorities in each WG (Table 1). The detailed description of each action is reported below, for each of the three pillars.

Table 1

IC2PerMed Roadmap’s actions
Pillar I: Shaping Sustainable Healthcare
Improving empowered and responsible citizens	Promoting a trained and up-to-date healthcare workforce		Fostering healthcare systems' sustainability
a. Health Literacy b. Research c. Public Trust d. ELSI	a. Education and ethics b. Collaborations c. Policies		a. Resources b. ELSI c. Evaluation d. Networks
Pillar II: Innovation and market
Bringing innovation to market		Adopting Big Data and ICT solutions
a. Cost-effectiveness b. Needs assessment c. Principles and guidelines d. Perspectives		a. Data Exchange b. Privacy, security, and trust c. Standards
Pillar III: Research and clinical studies in PM
Fostering research funding		Translating basic clinical research and beyond
a. Patient needs b. Value chain c. Synergies		a. Omics sciences b. Data and standards c. Collaborations

Pillar 1: Shaping sustainable healthcare

I-Improving empowered and responsible citizens

a. Health literacy

Promoting health literacy is a prerequisite for better citizens’ and patients’ engagement and empowerment. The growing significance of digital technologies and the pivotal role they play in facilitating the engagement process underscore the necessity to enhance digital literacy. Given the advancement of genomics and the widespread use of predictive genetic/genomic testing, informing citizens and patients could give them greater awareness about their health trajectories. The impact of healthcare professionals’ literacy should be considered, as they are a proxy for public engagement in the self-management of health and disease.

b. Research

Fostering needs-assessment research and communication activities in the field of citizens’ and patients’ education related to PM could lead to more effective empowerment of citizens and patients alike.

c. Public trust

Scientific research, public organisations and private institutions are key innovation actors in PM. Sustaining public trust and collaborations between different institutions nationally and internationally is the drive for healthcare transformation and public health promotion. In addition, public trust should be fostered and strengthened to protect patients’ rights through clear data governance in accordance with the Helsinki Declaration and the General Data Protection Regulation (GDPR), implementing technical solutions to safeguard cyber security, citizens and health practitioner engagement, and developing comprehensive consent procedures where needed.

d. Ethical challenges

A valid set of values and ethical principles should focus on the economic challenges and the inequality burden.

II-Promoting a trained and up-to-date healthcare workforce

e. Education and ethics

Improving healthcare professionals’ literacy and expertise, valuing integrity and ethics, could help foster PM. Research aimed at identifying effective methods should be promoted.

f. Collaborations

The future of healthcare professionals' training relies on multidisciplinary collaborations. Fostering collaborations between professionals from different specialities and between professionals and stakeholders while establishing more partnerships among countries to facilitate sharing of best practices.

g. Policies

Literacy in PM among healthcare professionals is an emerging focal point in national governmental strategies, policies, and agendas.

III-Fostering healthcare systems’ sustainability

h. Resources

A better allocation of resources on PM can foster the sustainability of health systems. In particular, the identification of a large investment stream for long-term data storage is a fundamental prerequisite for implementing PM strategies. Investment priorities for product and process innovation should be defined, considering the relationship between results and costs by identifying new payment models for public reimbursement.

i. ELSI & Costs

Ethical, Legal, and Social Implications (ELSI) and associated expenses must consistently factor into policy formation, assessment, and the governance of technological advancements in PM.

j. Evaluation

Health technologies are evolving rapidly and the translation of new discoveries underpins innovation and quality of care. Therefore, a system of continuous assessment of technologies and processes already in use and a change of perspective in Health Technology Assessment (HTA) is needed to integrate end-user perceptions into the innovation process. This would ensure greater effectiveness and usability.

k. Networks

Multidisciplinary and cross-sectoral collaborations for PM can promote the sustainability of health systems. Public-private partnerships and international networks should be valued for sharing experiences and promoting and evaluating best practices and progress in PM.

Pillar 2: Innovation and market

I- Bringing innovation to market

a. Cost-effectiveness

The application of personalized diagnostics and therapeutics should be geared towards lowering economic costs and barriers to market uptake. Regarding diagnostics, promoting research in PM aimed at more appropriate use of diagnostic tools (avoiding overuse, overdiagnosis and overtreatment) could lead to optimal use of resources in the field of prevention and, consequently, an increase in the value of healthcare. Health insurance providers should extend their coverage to innovative and high-value PM solutions, and reimbursement of services should be promoted or attempts should be made to reduce barriers to reimbursement. In implementation processes, economic, cost-effectiveness, and relative value analyses should consider both social and health budgets and non-optimal resource use in the system.

b. Needs assessment

Considering the epidemiological scenario, new solutions on the market must emphasize maximizing health outcomes for patients. Early, intensive, coordinated and continuous dialogue among all PM stakeholders is needed to foster process optimization and accelerate the acquisition of new technologies and tools.

c. Principles and guidelines

The PM actors should follow shared principles and universal data sharing and exchange guidelines. Innovations that aim for higher therapeutic value should be rewarded. Social value assessment should be systematically applied.

d. Perspectives

Stakeholders stimulating innovation should take a holistic and long-term perspective on the balance sheet. The interconnection and mutual dependence between diagnostic and therapeutic innovations and the potential for inappropriate use/ overuse must be taken into account.

II-Adopting Big Data and ICT solutions

a. Data exchange

To promote PM, Big Data must be analysable, comparable and interoperable across borders. The need emerges to carefully identify the type of information to be retained, increasingly favouring those related to health outcomes rather than information with no proven clinical or management value. To facilitate data exchange procedures, greater cooperation between academia, healthcare systems (including providers and payers), and industry would be advisable.

b. Privacy, security, and trust

Data security measures are a priority in developing new ICT solutions, which are crucial at the global level and not only focusing on high-income countries. Social and cultural differences between Europe and China should also be considered when it comes to public trust in government and state authorities, trying to reach a common understanding of shared challenges within PM. Involving the public can enhance awareness about data sharing benefits, its extended purposes, anonymization, privacy risks, security, private sector involvement, personal data protection, and foster frameworks aligned with societal agreement.

c. Standards

In the PM field, it is essential to study solutions aimed at effectively combining data from different sources (genetics, clinical data) and regions, focusing on their standardization for effective usage. Standards for data use should be adopted and implemented, also with a view to establishing common policies and global efforts for cross-border data sharing.

Pillar 3: Research and clinical studies in PM

I-Fostering research funding

a. Patient needs

Funding agencies should tailor investments to the needs of patients. There is a need to promote the voice of patients (and caregivers) at all stages of PM research, from co-designing research projects to advisory roles and enhancing educational initiatives to improve the scientific literacy of patients and researchers. Defining unmet needs and potential incremental innovation could help in laying the groundwork for new international collaborations.

b. Value chain

Investments, playing an important role in the entire value chain, are needed from basic science to implementing PM in healthcare. Funders, both public and private, act as the first filter on the prioritization of resource allocation which should be done responsibly. Furthermore, adequate investments are crucial in the research translation system.

c. Synergies

Establishing synergies between funders and the research community is the first step in implementing PM as a community. Implementing the exchange of researchers through mobility funding programs could promote collaboration and knowledge sharing between different countries and foster data sharing. Collaborations between funders should be established to align on research themes and fund larger, bold, cutting-edge projects that enable risk sharing.

II-Translating basic clinical research and beyond

d. Omics sciences

Omics sciences are fundamental to the development of PM. Phenotyping patients, following defined standards, could identify similar patients. Besides genomics, applications of different omics sciences and technologies should be promoted and used to identify biomarkers suitable for PM. Innovative methods that have shown great promise in the PM field, including induced pluripotent stem cell and organ-on-chips models, should be evaluated and adopted, valuing international partnerships.

e. Data and standards

Standardizing approaches, including controlled access models for data sharing and clinical trials, may facilitate their implementation and help in patient stratification. Patient stratification in non-genetic/complex diseases would benefit from research programs on machine learning algorithms. Furthermore, using specific use cases could help in the development of common international standards and tools for research. Exchanges and dialogue between regulatory agencies should be promoted to overcome regulatory problems in PM, particularly on benefit-risk relationships.

f. Collaborations

It is important to support non-profit foundations and funding agencies to promote international collaborations, especially in oncological care and rare diseases. Establishing specific funding programmes and operational frameworks for public-private collaboration can facilitate academic and industrial access to biological samples and data for research purposes. It is necessary to facilitate and strengthen the dialogue with regulatory and HTA agencies, companies, and academic entities to gain a clear vision regarding outcomes researched and identify the most appropriate research methods to investigate PM, ensuring patient safety and adapting to the characteristics of study populations.

The IC2PerMed roadmap illustrates strategic actions aimed at fostering international collaboration between China and the EU in the PM realm. These actions are intended to facilitate collaborative initiatives and enhance the optimization of research and developments, using the three pillars feeding the working groups’ activities as cornerstones.

Closer cooperation between the two sides can lead to synergies and gains for both. The alignment of research efforts and promotion of common research initiatives in science and technology could lead to reduction of redundancies and improved use of available monetary, technological and human resources. Generating substantial evidence can often be challenging due to limited data availability. This is particularly frequent for patients affected by some conditions, or undergoing personalized interventions, that might not generate enough data. Partnerships between institutions working in the same field can facilitate the collation of available evidence by pooling available data. On the other hand, collaborations between diverse entities can lead to reciprocal benefits, e.g. feedback on data reproducibility to basic research institutions while enabling translational institutions to gain insights and preliminary findings from closer collaborations. In this context, clusters that bring together different entities and foster cross-field cooperation play a crucial role in facilitating such joint efforts. The current high fragmentation of the sector calls for concerted efforts towards integration under common guidelines.

Engaging with all stakeholders is essential to incorporate diverse perspectives and ensure effective policy development. The IC2PerMed roadmap could orientate the efforts of policymakers, industry, healthcare professionals and citizens.

Policymakers often struggle to keep up with innovation, especially in high-transformative fields like PM. Policymakers play a central role as the primary recipients of countries' assistance and research priorities, wielding significant influence in the formulation and implementation of healthcare policies. The regulatory landscape is heterogeneous and fragmented in the EU and China, often relying on ad-hoc initiatives and projects [9]. The speed at which innovation proceeds is often incompatible with the times of policymaking, leaving much room for the introduction of unregulated technologies into practice, sometimes with negative effects [9]. In healthcare, normative gaps can expose people’s health and well-being to unanticipated risks. Therefore, emerging technologies and processes should be carefully evaluated before they are adopted [23]. Significant issues can arise, possibly related to the unintended effects of adopting some technology or concerning the data generated by it. If not stored safely and anonymously, data leakages or hacker attacks can lead to data theft, with several unwanted consequences that are particularly negative in the case of genomic data [24].

Facilitating the exchange of health data among different institutions, even from different countries, is a priority in the EU, that is working for the creation of the European Health Data Space to address health-specific challenges to electronic health data access and sharing, focusing on interoperability and cross-border sharing. More federated data infrastructures (as fostered by the 1 + Million Genomes Initiative, which has led to the Beyond 1 + Million Genomes and the Genomic Data Infrastructure projects) will also contribute to this goal [25–29].

Big Data raises several issues, including personal data ownership and protection, skill gaps in labour markets and an emerging new digital divide [30]. Hence, policies in this field are fundamental for regulating these aspects [30]. Regarding data protection, notable distinctions exist between Europe and China.

Europe’s regulation on data, the General Data Protection Regulation (GDPR), places significant emphasis on obtaining explicit consent or relying on legal exemptions for utilizing health data. In cross-border collaborations with third countries, such as China, data transfers necessitate adherence to the same level of data protection as enforced in the EU [31]. Conversely, China has implemented a comprehensive data protection framework, encompassing laws such as the Data Security Law, Cybersecurity Law, and Personal Information Protection Law [32]. These regulations are primarily oriented toward national security, public interest, and safeguarding fundamental data. Moreover, China has specific regulations, such as the Measures for Managing Scientific Data, governing the transfer of scientific data to designated data centres. These measures ensure the confidentiality and security of data, with a particular focus on prohibiting the disclosure of sensitive information [33–35].

The contrasting approaches between the two parts in data protection stem from their respective regulatory frameworks, varying consent requirements, and targeted legislation addressing different aspects of data protection and governance and promoting partnerships to facilitate data sharing and the creation of collaborative datasets [27, 36].

However, new solutions and advanced technologies, even if promising better outcomes for patients, can come at a high cost, hindering the implementation process and healthcare systems’ sustainability [37, 38]. Some solutions have been proposed, from checklists and instruments to measure PM solutions’ utility to performing economic evaluations that would ensure an intervention’s cost-effectiveness, like HTA and Health Impact Assessment (HIA) [39, 40]. Nonetheless, need-assessment and integration of end-users’ perspectives seem to be neglected.

For PM to reach its impact on patients’ health and well-being, translation of discoveries and communication across the continuum of research is required [41]. The development of preclinical and clinical model of disease benefits from the integration of ‘-omics’ data, useful to define molecular profiles. [42]. In order to standardize the process, identify biomarkers and correctly collect data, international consensus should be reached [42]. Developing new clinical trial designs including these innovative instruments and approaches contribute to the outcome research and the evaluation of interventions [42]. Cross-sectional research and collaboration should be supported by suitable funding mechanisms, valuing the existing instruments or promoting the establishment of new ones [43]. As per the mapping of major funding agencies and stakeholders in Europe and China in IC2PerMed’s deliverable D1.2, great similarities can be found in the structure of funding mechanisms and areas of interest [44].

Concerning industry and universities, which are the main actors in PM research and innovation in the EU and China [17], the results refer to the importance of investments of translating research into the market and partnerships between industrial partners and academia. Collaborations hold large economic potential, where global leaders can extend their reach and value chains to new markets. Both parties should pursue partnerships, collaborations and workshops to communicate and interact. Nonetheless, bridging the translational gap is crucial, and ensuring that universities and industries communicate will help address issues such as the skills mismatch [45, 46].

To implement PM in clinical and public health practice, both patients and health professionals should be aware of the possibilities offered and how to make the most of them [6, 19]. Given the need for informed, empowered, engaged and responsible citizens, there is a need to deepen digital literacy, knowledge of health data, public trust in institutions and easily accessible, reliable and understandable sources of medical information. Informed, accountable and empowered health service providers are also essential. Establish a normative framework for the exploitation of health information and research results in PM should be implemented for clinical practices [47]. Multidisciplinary collaborations improve the involvement of citizens in decision-making, promoting the creation of advocacy groups to represent the needs and perspectives of citizens and patients with policymakers [47]. Patients/citizens advocacy groups should collaborate with healthcare professionals and policymakers to improve health literacy and involvement in research, as well as to identify citizens' needs and sources of lack of trust [48]. It should be noted that the bilateral efforts on standardization in PM will benefit the whole field and allow health challenges to be tackled globally in a concerted manner.

The results of this work should be considered in light of some strengths and limitations. To the authors’ knowledge, this is the first attempt to present a comprehensive roadmap addressing multiple issues in the field of PM, with a specific focus on the collaboration with China. This document offers a tool for policymakers, highlighting emerging issues and experts’ considerations in the field. In addition, this roadmap includes other relevant stakeholders in the field of PM, adding value to its content.

The methodology used, particularly careful to intertwine the scientific literature, institutional sources and the opinion of experts, led to building a roadmap where each step was carefully evaluated and validated. This helped guarantee the quality and reliability of the results. In addition, the roadmap provides indications on aspects of PM that want to be as comprehensive as possible of the current scenario and challenges. However, arising from the international comparison of two realities, the European and the Chinese, which do not completely overlap in culture, political strategies, health systems, and technological advancement, it is possible that some aspects sound less specific compared to others. Furthermore, it is possible that some aspects relevant to PM have been neglected because of the adoption of as “perspectives” identified in the ICPerMed Vision for 2030.

PM has the potential to disrupt the medical field bringing major improvements for the benefit of public health. In doing so, PM affects citizens, patients, their families, and communities, at all levels of the entire healthcare system.

The development of PM requires concise action across universities, industrial partners, and national governments and urges for synchronous development on a global scale. To do so, the alignment of European and Chinese efforts, finding common ground across cultural, social, and language barriers can enhance public health efforts in applying PM strategies internationally.

Although different countries may have different perspectives because the specific national agenda may differ, PM acts as a collector of converging interests by acknowledging the best care for citizens and patients at its centre. The IC2PerMed roadmap represents an instrument for PM implementation, tackling the modern challenges of medicine and healthcare pragmatically in a list of doable actions. Implementing PM in a transversal way and welcoming new discoveries while considering sustainability holds the potential to have a revolutionary impact on healthcare, but this will require a concerted effort.

Ethics Approval Statement: This study does not involve human participants and ethical approval was not required.

Availability of data and materials: Not applicable

Conflict of Interest statement: None to declare.

Contributore: Sara Farina¹, Cosimo Savoia¹, Tommaso Osti¹, Benoit Masquin⁴, Svetlana Klessova⁴, Timo Strohäker⁶, Giuditta Magnifico⁷, Stefano Benvenuti⁷, Andrea Wutte⁸, Bettina Borisch⁹, Maria Mata⁹

Author Contributions: FB, FAC and MDM were major contributors to the drafting of the manuscript. All the other authors made important contributions and suggestions. WR and SB revised the manuscript substantially. All authors read and approved the final manuscript.

Fundings: This work was supported by the European Union’s Horizon 2020 research and innovation programme [grant numbers 87469]; the National Key R&D Program of Ministry of Science and Technology of the People's Republic of China (MOST) [grant number 2021YFE019240].

The authors wish to express their sincere gratitude to all the experts who took part in the project for their valuable contributions to this study.

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No competing interests reported.

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Reviewers agreed at journal
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A Roadmap for Personalized Medicine: the findings of the IC2PerMed Project

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Abstract

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Introduction

Material and methods

Mapping and survey of experts

Workshops and Delphi survey of experts

Theme analyses and results synthesis into IC2PerMed actions

Results

Discussion

Conclusion

Declarations

References

Additional Declarations

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Version 1