Introdution

 

GHELP is a 37-month project approved by the Interreg Sudoe Program and co-financed through the European Regional Development Fund (ERDF). The project started in April 2018 and is coordinated by the Otorhinolaryngology Department of the Clinic of the University of Navarra in Spain. The other seven beneficiaries, all from the Southwest European regions, the Institute of Public Health and Labor of Navarra (ES) (PT), Centro Hospitalar Lisboa Central, EPE- Hospital of Dona Estefânia (PT), Center Hospitalier Universitaire de Montpellier (FR) and Center Hospitalier Universitaire de Toulouse II (FR).

As Associate Partners, the PORTUGUESE ASSOCIATION OF BEARERS OF PROSTHESIS AND HEARING IMPLANTS (PT) and the Spanish Confederation of Families of Deaf People (ES). These entities will support the dissemination of the project to ensure that information reaches as many target people as possible, ie people with hearing loss and their relatives.

Expected Results

 

Ghelp Genetic Panel

The GHELP Panel, developed in this project offers the opportunity to study, by NGS technology in a single blood sample, the 183 most relevant genes in deafness, avoiding gene-to-gene study, maximizing the time to diagnosis and leading to an earlier intervention. Based on this analysis, GHELP will have positive impacts in the participating territories: the tool, being more rational, will improve the diagnostic quality and cost-effectiveness of current programs (reducing them by half). NGS technology allows sequencing of genes that would have been discarded with other technologies due to technical problems. Thanks to this tool, the process will be more effective and of added value: decision-making on the treatment to be followed will be avoided, unnecessary additional tests will be avoided and the families of the affected persons will have access, if they wish, to crucial information for the understanding of hearing loss..

Training Program GHELP

This training program aims to transfer theoretical-practical knowledge about NGS sequencing in the genetic diagnosis of hearing loss. The design and execution of this training program allows an economy focused on the generation and transfer of knowledge, reducing the existing innovation asymmetries among the participating SUDOE regions.

The program is intended for medical professionals not familiar with the genetic diagnosis with NGS technology. The 20-hour training consists of theoretical-practical sessions, based on modules taught in English.

The documentation to be developed by the University of Navarra consists of: application documents for genetic study (order form) and clinical protocol, clinical report documents with the steps followed for the interpretation of variants (ACMG guides, databases: HGMD, ExAC, etc.), document of interpretation of variants, guidance document and advice for clinical practice and genetic counseling.

Working Plan

#1 Retrospective Validation of the genetic tool

Lead by: 
Biodonostia

Main Objectives:
1) Drafting informed consent documents and obtaining the necessary approvals from ethic committees.
2) Drafting the sheet to gather information from patients and the data base

#2 Prospective validation of the genetic tool

Lead by: : 
Centre Hospitalier Universitaire de Toulouse

Main Objectives:
1) Drafting informed consent documents and obtaining the necessary approvals from ethic committees.
2) Drafting the sheet to gather information from patients and the data base

#3 GHELP Training and Mobility Program

Lead by: 
Universidad de Navarra

Main Objectives:
1) Create the GHELP Training Program to Universities and higher education centers, institutes, laboratories and research centers, hospitals and clinics.
2) Create Guidelines and advice for clinical practice and genetic counseling, Illustrative clinical reports including the steps taken to interpret variants and Illustrative genetic study request form and clinical protocol.

#3 Draft reports and hold meetings to come up with improvement proposals to the current hearing loss detection programs for children

Lead by:  
Instituto de Salud Pública y Laboral de Navarra

Main Objectives:
1) Draft a report explaining the outcome of the GHELP project for Public Healthcare services and Deaf Patient associations in the participating SUDOE regions.
2) Conducting a longitudinal and economic study on the implementation of this universal tool in the SUDOE territories, as part of the existing healthcare programs for the early detection of hearing loss among children and organize meetings with public healthcare administrations and Deaf Associations

Horizontal Work Packages

#1 Project Management

Lead by: 
Universidad de Navarra

Main Objectives:
1) Structures, responsibilities and procedures to manage and coordinate the day-to-day of the project.
2) Policy and technical decision-making bodies regarding the project and its competences.
3) Internal communication system within the partnership.
4) Internal organization foreseen to draft the execution reports.
5) Financial management of the project

#2 Project communication

Lead by: 
Hospital CUF Porto, S.A

Main Objectives:
1) Creating the logotype, as well as the Bi-yearly Newsletters and the Poster with information about the
2) Design the Website to  website which will serve to make the GHELP known to the general public in order to maximize the impact of the project.
3) Communicate the project on social networks.
4) Creating the communications materials to support the final meeting.

#3 Acompanhamento e avaliação do projeto

Lead by: 
Centro Hospitalar Lisboa Central, EPE Hospital de Dona Estefânia

Main Objectives:
1) Monitor the project, analising the results and the reports sending by the partners. 2) Procedures planned to manage risk and control quality

Plan of action for improvement

The action plan to improve current hearing loss screening programs will consist in a document that exposes the genetic results obtained, thus enabling the display of gene panel utility. It will include the results of the socioeconomic study on the economic, social and sanitary viability of the implementation of this tool in the current programs of early detection of childhood hearing loss. It will also include a guide on how to deploy the tool in the SUDOE territories participating in the project.