i3S leads European project to find better financing models in Health

The PREVENTABLE project, led by researcher Carla Oliveira, leader of the «Expression Regulation in Cancer» group, was recently funded with five million euros by the Horizon Europe Program of the European Commission. The three year project’s main objective is to use specialized clinical knowledge in very rare hereditary tumor syndromes (RTRS), clinical data from families with these diseases, and the experience of professionals and patients to estimate the cost-benefit of preventive interventions and reduce the risk of cancer.

The project, whose original name was “Cancer prevention vs cancer treatment: the rare tumor risk syndromes battle”, also aims to outline guidelines for communication between clinical teams and between clinicians and patients. The ambition, adds Carla Oliveira, is to demonstrate that a European risk reduction strategy for patients with RTRS, based on prevention and early diagnosis, will reduce the high mortality associated with these diseases and reduce the costs of health systems.

This project involves a multidisciplinary team of 15 European partners, of which five are Portuguese, three Spanish, two French, and one each from Norway, the Netherlands, Germany, the United Kingdom, and Belgium respectively. As the coordinating entity, i3S will receive 1.660 million, with the other Portuguese institutions receiving around one million euros: Centro Hospitalar Universitário de São João (CHUSJ), Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), NOVA Medical School at NOVA University of Lisbon, and the Portuguese Innovation Society (SPI). The project also has the collaboration of EVITA - Support Association for Carriers of Changes in Genes Related to Hereditary Cancer.

A new challenge for i3S in the health sciences

This project is “unprecedented, completely innovative and comprehensive” because it’s the first time a study of this kind will be based on complex real clinical data from patients with eight rare syndromes, rather than on predictive economic models. The same syndrome, explains Carla Oliveira, “can cause many different diseases in the same person and different diseases in different people in the same family. We will predict all the clinical scenarios that can happen in the context of each syndrome and then we will confirm with the clinical data collected by the partners. We then compare the scenarios in which the disease was prevented with the scenarios of those who received treatment, to assess whether there is an advantage, in economic terms and in terms of patient survival, when preventive measures are applied”.

PREVENTABLE follows the first study on the cost-benefit model in hereditary breast and ovarian cancer syndromes, which was also coordinated by Carla Oliveira and that won the 2021 Alfredo da Silva Research Prize. “We already have this pilot, so it will be easier to work with the other syndromes. Furthermore, as researchers in the Health field, we feel that it is our duty to demonstrate the great social and financial benefits of prevention, not only for patients with these syndromes, but also for health care providers, caregivers and for society in general”.

The i3S team will also be responsible for collecting data for two syndromes; one that causes diffuse gastric cancer (Carla Oliveira), and the other that causes stromal gastrointestinal tumors (Paula Soares), and for developing and implementing the IT infrastructure that will manage the data collected by the consortium partners.

About very rare hereditary tumor syndromes (RTRS)

RTRS syndromes are rare diseases that are caused by inherited genetic variants and affect between 1 in 5,000 and 250,000 people at birth. When undiagnosed or unexamined, many asymptomatic patients from families with these syndromes develop particularly aggressive cancers, leading to premature death. "But these cancers can be prevented if asymptomatic patients are monitored systematically, if cancer-prone organs are surgically removed (if possible) before the disease sets in, or if very small cancerous or precancerous lesions are removed or treated” underlines the project coordinator.

Most health systems continue to opt for cancer treatment, despite the high costs that this entails, instead of following the path of prevention or early diagnosis and curative treatment. As such, explains Carla Oliveira, “it is urgent to demonstrate the cost-effectiveness of applying preventive measures in RTRS syndromes. As part of this project, we will estimate how much it costs to intervene early and outline guidelines with the aim of implementing a cost-effective care network focused on these patients in Europe”.

Very rare hereditary tumor syndromes (RTRS) constitute a part of hereditary cancers that are rare and neglected, a reality recently recognized by the European Commission and which led to the launch of a European Reference Network (ERN) in 2017, especially dedicated to Syndromes of Genetic Tumor Risk (GENTURIS) and which in Portugal is led by Carla Oliveira.
 
In the eight rare cancer syndromes considered in this project there is a high to very high predisposition to develop one or more early cancers. Since only 20-30% of people with genetic tumor risk syndromes have been diagnosed to date, ERN GENTURIS is working to improve their identification, minimize variation in clinical outcomes, design and implement clinical guidelines, develop registries and biobanks, support research, improve the quality and interpretation of genetic tests, and increase patient participation in clinical research programs. GENTURIS, adds the researcher, brings together reference centers for this type of tumors in 23 European countries and nine of the 15 partners of the PREVENTABLE project are members of GENTURIS.

Focus on RTRS healthcare models

Research by NOVA Medical School at NOVA University of Lisbon (NMS-UNL), a partner of this consortium, will focus on the behavioral analysis of decision-making in relation to health care models in RTRS syndromes.

According to researcher Marta Marques, co-PI of the EpiDoc unit at the Comprehensive Health Research Center (CHRC) of the NMS-UNL, “we will use a mixed methodological approach: data collection by questionnaire and focus groups, in the various countries that make up the consortium. Specifically, we will use the conceptual frameworks of behavioral science as a basis to identify barriers and facilitators to the implementation of health care delivery models focused on the prevention of RTRS syndromes, with clinical teams, with patients and with their support network”. Based on the results of this work, recommendations will be developed for communicating healthcare delivery models in this context, using a person-centric approach.

Giving visibility to RTRS and encouraging prevention

As a partner in this consortium, Ipatimup, more specifically the Cancer Prevention Unit, will make use of its experience in the area with the aim of giving visibility to the RTRS and encouraging prevention. According to Nuno Teixeira Marcos, coordinator of this Unit, “this is a project on rare cancer syndromes, and one of the difficulties of these low-incidence diseases is that they have very little visibility, both by the public and by the medical and of policy makers. But it is precisely because they are rare that these syndromes need a dedicated, incisive and creative approach, so that we can help individuals at risk to make informed decisions, clinicians to be alert to risk criteria and preventive options, and to make better policies for the management of these diseases”.

The work of this partner, adds the researcher, “will make use of the results generated by the clinical component of the project, by the economic component and by the sociological component, to create an information program specifically targeted to at-risk individuals, first-line doctors and policy makers”.

São João Hospital team will map patient trajectories

The team at Centro Hospitalar Universitário São João (CHUSJ) is led by epidemiologist Ana Azevedo and includes professionals from multiple categories (doctors, nurses, geneticists, senior cancer registry technicians, managers, nutritionists , and psychologists) from the following areas and services: Hospital Epidemiology, Medical Genetics, Oncogenetics, General Surgery, Breast Center, Gastroenterology, Medical Oncology, Plastic Surgery, Pathological Anatomy, Management Planning and Control, Nutrition, Psychology, and Cancer Registry.

As a healthcare provider recognized as an effective member of the GENTURIS European Reference Network, and including the aforementioned experts, CHUSJ will map the trajectories of patients diagnosed and treated with rare cancer syndromes, and the primary and secondary prevention measures that applied to them, as well as other types of treatment, the respective costs and the resulting clinical results. “These are fundamental, real-life inputs for the cost-effectiveness analysis of the different alternatives for case management”, explains Ana Azevedo.

Maximize the impact of outcomes and facilitate innovation in preventive medicine

As a partner of this consortium, Sociedade Portuguesa de Inovação (SPI) will use its vast experience in internationally financed projects to act as a facilitator of innovation. SPI will be responsible for implementing the communication and dissemination strategies of the PREVENTABLE project, in order to ensure an adapted and adequate dissemination to the different identified target audiences. The PREVENTABLE project will allow SPI to intervene in the fields of preventive medicine, positioning itself as a multiplier of the impact of research results and promoting awareness and dissemination of the importance of preventive medicine in the sustainability of health systems.