Family Gene Toolkit: A digital service to support genetic care in Europe
Description: Genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS) can guide treatment for individuals affected by cancer, while cascade genetic screening of young, unaffected biological relatives can reduce cancer morbidity and mortality at the population level through timely screening and early detection. During face-to-face consultations, clinicians have to explain the health implications associated with HBOC or LS and create an appropriate plan for cancer risk management. Family outreach for cascade testing of biological relatives is delegated to the individual with the pathogenic variant, due to privacy laws for the protection of genetic information. Given the amount of information that patients have to process in a short period of time, and the potential decisional conflict associated with some risk management options (e.g., risk-reducing salpingo-oophorectomy for premenopausal women), patients are often left overwhelmed and with little support. This, in turn, creates missed opportunities for effective translation of genetic information into clinical practice. Evidence from Swiss and international studies show that about 50% of individuals who meet eligibility criteria do not have genetic testing, while 30-40% of those with an HBOC- or LS-associated variant do not have cancer screenings consistent with their level of risk. This leads to delayed diagnoses, several missed opportunities for risk reduction, and overall poorer cancer-related outcomes. Increasing access to genetic services is a fundamental problem that makes using digital technology an attractive option for cost-effective care. Based on our decade-long research, we developed the Family Gene Toolkit, a digital service that provides reliable information and empowers patients concerned with HBOC- or LS-associated variants participate in shared decision-making, while it can support clinicians to effectively organize patient care. The Family Gene Toolkit is comprehensive, with versatile functions and unique features, allowing many issues to be addressed with one software framework. The level of innovation of the product is currently ILR3/ILR4. Prototypes v1.0 and v2.0 have been tested with focus groups, while v2.0 is currently being tested for patient outcomes in a randomized trial.The next steps involve product validation, assessing market fit, and technology advancement with AI-powered functions in order to enhance patients’ experience and the clinical utility of the digital service. The BRIDGE Discovery award will enable the maturity of the product to IRL6/IRL7, where the digital service and outcomes will be tested in development mode both for patients and clinicians. The specific aims of the project are to:1)Improve interface and functions for patients (User 1) by seeking input from those who have used the service 2)Assess market fit and the utility of the digital service for clinicians (User 2)3)Integrate new content and AI-based functions to expand the acceptability, applicability, and utility of the serviceAim 1 will be achieved with focus groups with patients who used prototype v2.0 during the randomized trial. Aim 2 will be achieved with interviews with clinicians from various specialties and insurance stakeholders. Data collected will feed new content and tools controlled by pre-trained AI models to support the functions of prototype v3.0 for Aim 3. Validation will involve clinicians testing the service in their praxis. We expect a minimum of 15% improvement in patient outcomes and satisfaction with care, and 30% improvement in measures of efficient patient care. Our implementation roadmap includes a soft-launch with our clinical partners, which will also provide evidence for traction.The three co-applicants and the eight clinical partners have a long-term research collaboration. The development and testing of the Family Gene Toolkit v2.0 have been supported by the Swiss CASCADE consortium, a partnership of the research team with clinicians and other stakeholders from 14 university and cantonal hospitals and private praxes across Switzerland. This established collaboration ensures the overall feasibility and success of the project, and the ultimate commercialization of the digital service.
Amount: CHF 1,598,000
Funding type: research
Funder scheme: Bridge - Discovery
Start date: 2026-01-01
End date: 2029-12-31
Investigator: Katapodi, Maria
Institution: University of Basel – BS
Subfield: Genetics
Domain: Life Sciences
Funded outputs count: 0
Funder award ID: 237643
OpenAlex ID: G144174161