Community Research and Development Information Service - CORDIS


PLATGENE Report Summary

Project ID: 775441

Periodic Reporting for period 1 - PLATGENE (Development of a platform for a new model of interaction between geneticists and patients with Mendelian diseases.)

Reporting period: 2017-05-01 to 2017-10-31

Summary of the context and overall objectives of the project

Our project aims to develop and bring to market a web platform “”, based on telemedicine, which allows effective interaction between those who need genetic counselling and who can give it: patients, physicians, genetics laboratories on the one hand and geneticists on the other.
Our idea is to create a bridge between geneticists and people, to help them easily get high quality genetic counselling and testing, valorizing at the same time role and skills of the geneticists.
Genica platform would provide solutions to several issues related to the genetics, such as difficult access to expertises and services by patients affected by rare genetic diseases or familial cancers, poor recognition of the geneticist profession, poor genetic culture of most physicians that use genetics as support in diagnosis and/or in prenatal screening, lack of a reference point for data interpretation, as well as a guide to genetic testing for diagnostic purposes and not.
Through our platform, geneticists find a new way to valorize their expertise, using an organized and simplified online workspace. On the other side, people needing genetic counselling find effective solutions and a concrete reference point for their condition. They can avail of a telemedicine-based system, without the need to travel and move to other centers, saving time and money, accelerating time to get answers to their condition, and reducing their psychological stress.

Work performed from the beginning of the project to the end of the period covered by the report and main results achieved so far

During this period we focused first on market needs; we spoke to several geneticists to understand their interest in the project and their opinion on the present and future of genetics in Italy and in general. We discovered new stakeholders and new potential users that enlarged the target market both on the side of genetic counsellors and “counselling needy people”. Of particular relevance is the availability of SIGU (Italian society of genetics) to support the initiative with a team that will contribute to identify the detailed operative requirements with their experience in counselling and to project the platform. We spoke to physicians (gynaecologists and neurologists) both working for public and private entities. All of them allowed us to see new elements to be considered and introduced in the platform, and to reinforce our feeling that the platform could be very useful to many people and will fill an empty space. We also searched and find reports and numbers describing the market, customers and potential growth, to design our marketing plan and financial plan. We designed a scheme explaining the idea, actors and relations among them and an organizational chart describing key figures and activities for platform success. We identified an operational plan to achieve our market goals over 3 years.

Progress beyond the state of the art and expected potential impact (including the socio-economic impact and the wider societal implications of the project so far)

The expected outcome of the project is developing at European level a new business model in order to end the expensive and stressful diagnostic odyssey experienced by patients needing genetic counseling, make effective a conscious and functional use of genetics by physicians as support in diagnosis and prenatal screening, and provide a concrete job opportunity to geneticists.
The main social benefits for people are the availability of a unique and transparent platform allowing an easy access to genetic services (counselling and testing) and the ability to choose between several geneticists, based on their CV, skills and reviews by other users and other professionals.
The main economic benefit for geneticists is the possibility to use a tool to approach the market and expand their catchment area, in a way that validates the upstream skills, leaving independence and visibility. They do not need to invest in marketing to find patients and in the setup of procedures. The platform can accelerate knowledge acquisition and reduce costs to stay updated on the latest technologies.
The platform could facilitate access to high-quality, affordable and cost-effective genetic services for patients with medical conditions requiring rare expertise, improve recognition and visibility of the geneticist profession, promote an interdisciplinary approach to patient care through a greater cooperation between geneticists and physicians.
It could bring significant social benefits enabling equitable access to genetic counselling and genetic tests for the individual patients, regardless of the rarity of their condition or where they live. Moreover, It could also have economic impact in improving efficiency and effectiveness in the use of resources for health systems overall.
The platform also has the potential to become a European reference tool to share knowledge and experiences among professionals in different countries, promote cooperation between Member States, develop precise descriptions of the services required, and elaborate common guidelines.

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