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PREVENTABLE · Project

Economic Case for Preventive Care in Rare Genetic Cancer Syndromes

healthTestedTRL 5

Some people are born with genetic switches that make them almost certain to develop aggressive cancers. Instead of waiting for the disease to appear and paying for expensive hospital stays, this work shows how removing high-risk organs early is cheaper and safer. It is like fixing a leak in a roof before the whole house floods, rather than rebuilding the house after the storm.

By the numbers
5 per 10,000
Prevalence of Rare Tumour Risk Syndromes
100%
Maximum lifetime risk to develop cancer in RTRS
50%
Chance of transmitting the disease to offspring
The business problem

What needed solving

Healthcare systems currently spend too much on treating advanced cancers in patients with known genetic risks because they lack the economic data to justify expensive preventive surgeries.

The solution

What was built

An IT tool for systematic registration of patient data and automated cost estimation of care pathways.

Audience

Who needs this

Health insurance companiesPublic health policy makersClinical oncology software providersRare disease diagnostic labs
Business applications

Who can put this to work

Health Insurance
enterprise
Target: Private Health Insurance Provider

If you are a provider dealing with high costs of advanced cancer hospitalization — this project developed cost-benefit models that prove preventive surgeries are more affordable than treating late-stage disease. This allows for better risk-pooling and lower long-term payouts.

Health IT
SME
Target: Medical Software Developer

If you are a software firm dealing with fragmented patient tracking — this project developed an IT tool for systematic registration of real patient data and automated cost estimation. This can be integrated into clinical management systems to track patient trajectories.

Public Health
any
Target: National Health Service/Government Agency

If you are a public health body dealing with inefficient resource allocation for rare diseases — this project developed guidelines for risk-reduction interventions. This helps shift spending from expensive emergency treatments to planned preventive care.

Frequently asked

Quick answers

How does this project impact the cost of cancer care?

It demonstrates that hospitalization for advanced cancer is the highest expense and shows that preventive measures are more cost-effective.

Can this be scaled to other rare diseases?

Based on available project data, the project focuses specifically on Rare Tumour Risk Syndromes (RTRS) affecting 5 per 10,000 people or less, but the economic modeling approach could potentially be adapted.

What IP or licensing is available?

The project has developed an IT tool for data registration and cost estimation; however, specific licensing terms are not detailed in the provided data.

What is the timeline for implementation?

The project runs from 2023-01-01 to 2026-06-30, with the first reporting period already completed.

How is this integrated into current clinical workflows?

It uses European Reference Networks and specialized clinical knowledge to define pathways of care and associated clinical procedures.

Consortium

Who built it

The consortium is heavily weighted toward research and academia, with 11 partners from universities and research institutes. However, it includes 16 partners across 9 countries, providing a broad European data set. The industry presence is low at 6% (1 company), suggesting the project is currently more focused on clinical validation and economic proof than immediate commercial productization.

How to reach the team

Contact I3S - Instituto de Investigacao e Inovacao em Saude da Universidade do Porto

Next steps

Talk to the team behind this work.

Contact us to explore licensing the RTRS cost-estimation IT tool.

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