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European Reference Network on GEnetic TUmour RIsk Syndromes - GENTURIS [ERN GENTURIS] [768995] - Operating Grant
Project abstract

GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients are at very high hereditary risk of developing multiple tumours, which are often located in multiple organ systems. In case they are diagnosed with cancer they need different treatment and follow-up as compared to non-hereditary cancers. In addition GENTURIS takes care of the relatives of these patients, for which prevention and early detection of tumours is of great importance too.
WHAT IS OUR MISSION: To inspire hope and contribute to health and well being by organizing and providing the best care to every patient in Europe with a genetic tumour risk syndrome through integrated multidisciplinary healthcare, guidelines, education and research.
WHAT IS OUR DESIRED END-STATE: Striving to be the world’s leader of genetic tumour risk syndromes in patient participation, clinical care, research and education.
The ERN GENTURIS is addressing the following challenges when it comes to the identification, genetic testing, tumour prevention and treatment of patients with genturis: 1) Great majority of genturis patients are not yet identified 2) Large variation in clinical outcomes resulting in impaired prognosis and avoidable costs 3) Guidelines are lacking or implemented insufficiently 4) Almost no patient registries and biobanks 5) Limited research programs 6) Fragmented patient empowerment activities.
There are 4 thematic groups of syndromes: 1: Neurofibromatosis type 1, 2 & Schwannomatosis. 2: Lynch syndrome & polyposis. 3: Hereditary breast & ovarian cancer. 4: Other rare - predominantly malignant - syndromes. This group includes syndromes not covered in the other groups. It is a heterogeneous group with very small numbers of patients that will benefit greatly from a centralized approach. Within the next years not yet covered as well as newly discovered genturis will be included as well.

Summary of context, overal objectives, strategic, relevance and contribution of the action

ERN GENTURIS is a European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis). These patients are at very high hereditary risk of developing multiple tumours, which are often located in multiple organ systems. In case they are diagnosed with cancer they need different treatment and follow-up as compared to nonhereditary cancers. In addition GENTURIS takes care of the relatives of these patients, for which prevention and early detection of tumours is of great importance too.
ERN GENTURIS is working to improve identification of these syndromes, minimise variation in clinical outcomes, design and implement guidelines, develop registries and biobanks, support research, and empower patients. The network will educate the public and healthcare professionals, and foster the sharing of best practice across Europe. Access to multidisciplinary care will be improved, with new models and standards for sharing and discussing complex cases. The network is enhancing the quality and interpretation of genetic testing, and increasing patient participation in clinical research programmes.

Methods and means

ERN GENTURIS is coordinated by Radboud university medical center in Nijmegen, The Netherlands. The current list of 23 participating healthcare providers covers 12 European member states (see figure 1).
The syndromes are grouped in three thematic groups that have overlap in manifestations and/ or genetic cause, plus a group of even more rare syndromes with predominantly malignant tumours (see figure 2). Six Task Forces are set up, each dealing with specific tasks (see figure 2).

Work performed during the reporting period

In year 1, ERN GENTURIS focussed on:
• establishing a governance structure compliant with EU criteria
• designing draft patient pathways
• identifying best practices for composition and organisation of multidisciplinary teams
• the clinical patient management system (the secure web-based application functioning as the platform where healthcare professionals from the European Reference Networks (ERNs) discuss real patient cases)
• identifying process, clinical outcome, quality and patient safety indicators for genturis
• developing a GAP analysis and an Annual Education work plan
• create a minimal data set outline and select a registry system
• develop a Research work plan
• involve patient representatives in all relevant committees
• develop a Communication and Dissemination Work Plan

These activities were carried out by the six Task Forces and four Thematic Groups (see figure 2).

The main output achieved so far and their potential impact and use by target group (including benefits)

The Board terms of reference and Board policies were agreed upon by all members and signed. ERN GENTURIS chaired the ERN coordinators Working group on ethical and legal issues and took the lead in writing the ERN-wide policy on the conflict of interest.
All members familiarized themselves with the clinical patient management system and the first patients were enrolled by the end of year 1.
Draft care pathways including basic draft clinical guidelines were developed for Neurofibromatosis 1, Lynch and Polyposis, Hereditary Breast and Ovarian Cancer, Cowden syndrome and Li-Fraumeni syndrome.
The best practice for the composition of the MDT per genturis group was identified, as well as the organisation of the MDT in relation to the use of the Clinical Patient Management System.
A list of GENTURIS performance and outcome indicators was selected from the draft of the ERN-wide indicators prepared by the ERN Coordinators Working group on Monitoring, assessment and quality improvement. Indicators were selected on the basis of their relevance and feasibility to use in GENTURIS.
The Annual Education Workplan describes the local courses planned in 2018 by ERN GENTURIS members, the Spring Course in Hereditary Cancer Genetics organised by ERN GENTURIS members (24th – 27 April 2018, University Residential Centre of Bertinoro, Italy), as well as plans how improve and develop education, training, professional development. Gap analysis were designed for national coordinators, participants of the Bertinoro course and participants at a workshop organised by ERN GENTURIS coordinator Prof. Nicoline Hoogerbrugge at the European Society of Human Genetics Conference (ESHG) 2018, (Milan, Italy, June 16-19 2018).
The Strategic Research Plan describes that a GAP was identified in the really rare genturis research projects. Therefore, we will concentrate the search for funding of research on the ultra-rare Genturis of thematic group 4: LFS, CDH1, PTEN etc. The minimal data set has been defined and will be operationalised and implemented in a registry in year 2. We evaluated several available open-source, licensed or commercial data registry systems to see whether they support the minimal requirements.
During year 1 six patient representatives (ePAG members) became part of the GENTURIS Advisory board and the GENTURIS Board , as well as taskforces 2-6 and the four thematic groups to support their activities. The public website www.genturis.eu went online on 3 February 2017 and was updated regularly in collaboration with all partners and the ePAG representatives. The website was translated into Spanish and French. The German and Dutch website texts are currently being fine-tuned by the national coordinators. In the upcoming year, the website will be translated into Portuguese, Polish and Slovenian.
The communication and dissemination plan describes the wide range of stakeholders, with different objectives, key messages and appropriate communication and dissemination channels. In version 1.0 of the communication and dissemination plan, the main stakeholder groups are identified, which will be further expanded in the next years of the ERN. For all stakeholders GENTURIS will set up a two-way or multi-way communication and dissemination approach, for instance by facilitating focus groups or dialog groups.

Achieved outcomes compared to the expected outcomes

Most achieved outcomes are in line with the expected outcomes. However, a number of outcomes have been prepared in a draft or first version and need be finalized in collaboration with the stakeholders.

Dissemination and evaluation activities carried out so far and their major results

In year 1, ERN GENTURIS members engaged in nearly 100 dissemination activities. These activities included notably 4 television interviews and one radio interview. The most frequent type of dissemination was the oral presentation, 59% of which was directed to a scientific audience and 41% to the general public. Of all the dissemination activities, 14% was directed towards patients in combination with other stakeholders, 25% towards the general public, and 55% to medical specialists only. 77% of the dissemination was targeted domestically, 12% at European countries and 11% at non-European countries.

Evaluation of the performance of GENTURIS was done at the coordination level and at Task Force Level. The main finding is that the amount of work is more than anticipated and that a shortage in budget, time and expertise in (some of) the Task Forces has led to a delay in the activities.