Edition of 24 December 2020

Patients living with a rare disease (RD) and their parents in general face isolation, as do paediatric RD patients and their relatives. According to qualitative studies, online social platforms, such as Facebook groups, help paediatric RD patients, RD patients in general, and their families to escape from isolation. The mentioned platforms are currently a favoured solution to provide support, information exchange and health communication.

The authors of the study worked on 5 synonymous disease descriptions, using disease data extracted from the Oprhanet site. The authors were able to identify 6398 Facebook support groups (from which two-thirds are private groups) representing 826 diseases, and a total of 19.5% of all searched diseases. Facebook is the privileged social media channel used by support groups for rare paediatric diseases. For the authors, advantages and limitations of the Facebook tool for RD paediatric patients, their families and RD patients are to be investigated further.

An article of the Journal of Cancer Epidemiology highlights a large prospective cohort studies used to study rare cancers as little information is available concerning the validity of self-reported cancer diagnosis (including rare cancers) in Canada. A study was conducted through Alberta’s Tomorrow Project (ATP), and in collaboration with the Alberta Cancer Registry (ACR). Data from self-reported cancers gathered through a survey was placed into perspective with an ACR first cancer diagnosis, and logistic regression analysis was performed to discover factors such as incorrect cancer site reporting, false negative, and false positive results.

The sensitivity and positive predictive value (PPV) were also amongst the values taken into account to measure cancer status, and to be able to identify common or rare cancers. 30,843 participants from the ATP project took part to the registry linkage, and 810 primary cancers were diagnosed using the ACR registry. For rare cancers, a lower sensitivity was noted, as rare cancers had a lower sensitivity in comparison to common cancers (62.8% vs. 89.6%). It was not easy to identify rare cancers compared to common cancers. Authors concluded that it is possible to conduct research on rare cancers using large cohort studies, while registry linkage is completely adequate in the case of rare cancer diagnoses.