Invitation to participate in an online survey about the factors that influence the referral and uptake of care pathways for Rare Tumour Risk Syndromes (RTRS)

As part of the PREVENTABLE project, we are currently conducting an anonymous online survey to explore the factors that influence the referral and uptake of care pathways for RTRS.

RTRS are a group of hereditary rare diseases in which patients have a high risk of developing cancer and transmitting the disease to their descendants. The care options for these patients involve several procedures, including surveillance (e.g., scans, risk consultations), risk-reduction strategies and early and advance-stage treatments. Although several factors may influence the decision-making regarding the care pathways of choice, these factors haven’t been explored yet. Hence, this study aims to identify the factors (i.e., barriers and facilitators) that influence:

i. The decisions of patients with RTRS regarding their care options.

ii. Clinicians’ choices of referral to RTRS care pathways.

We invite patients with RTRS that are at least 18 years old, and clinicians with previous experience in making recommendations of care to patients with RTRS, to participate in this study. Specifically, we are studying eight RTRS:

– Hereditary Diffuse Gastric Cancer (variant in CDH1 or CTNNA1)

– Gastrointestinal Stromal Tumour Syndrome (variant in KIT or SDHA or SDHB or SDHC or SDHD)

– Birt-Hogg Dubbé Syndrome (variant in FLCN)

– Hereditary Leiomyomatosis and Renal Cell Carcinomas (variant in FH)

– Li-Fraumeni Syndrome (variant in TP53)

– PTEN Hamartoma Tumour Syndrome (variant in PTEN)

– Familial Malignant Melanoma (variant in CDKN2A or CDK4)

– Peutz-Jeghers Syndrome (variant in STK11)

The participation in this study consists in filling in the anonymous online survey once. Filling in the survey should take you no longer than 10 minutes. The study follows the ethical principles and data privacy protection of the European Regulation 2018/1725. Ethical approval was obtained from all the involved institutions. All data collected will be confidential and anonymous. Data will be analysed in an aggregated manner.

With your help, by filling in the online survey, we will be able to identify the factors (i.e., barriers and facilitators) influencing the choices that clinical teams managing RTRS and patients with RTRS make for the recommendation and uptake, respectively, of care pathways. These important findings will inform the development of guidelines for the recommendation and communication of preventive care pathways in RTRS.

If you have any questions related with your participation in this study, please do not hesitate to contact Filipa Machado

Please fill in the survey for patients by clicking Here or scanning the QR code:

Please fill in the survey for clinicians by clicking Here or scanning the QR code:

If you know someone suitable for this study, please do not hesitate to share this invitation with them.

Thank you for reading this information!