Edition of 29 May 2020

Rare cancers are the rare diseases of oncology, as they are homogeneous and managed by the same group of physicians (for example medical oncologists, or surgical oncologists), in comparison with rare diseases that are varied by groups of diseases. Rare cancers are low in number, and are different from common cancers, which are the two main causes of mortality within wealthy societies. The Surveillance of Rare Cancers in Europe (RARECARE) project, founded by the European Commission in 2008, worked the same year on a list of rare cancers. RARECARE defined rare cancers, based on incidence, and stated that cancer rarity rate at 6/100 000.

In 2016, The European Union (EU) created the Joint Action on Rare Cancers (JARC), composed by 18 member states, and 34 partners, with the aim of promoting quality care and research on rare cancers within the EU. JARC, in collaboration with other involved actors, including RARECARE, RARECAREnet, ERNs working on rare cancers (on paediatric cancers, or on rare adult solid cancers), scientific societies, and Member State representatives of JARC, reviewed RARECARE’s list of rare cancers, and grouped them into 12 rare cancer families. Rare cancers make up 10 to 20% of the total of cancer cases. JARC experts and other actors convened that the definition on rare cancers is better based on incidence and not on prevalence. JARC’s rare cancers refined list is a reference in medical care and research to fight against rare cancers and rare diseases.

Australia, Belgium, and Germany conducted studies to evaluate the implementation of newborn genetic screening for spinal muscular atrophy (SMA). In Australia, 103,903 newborns were screened, and ten were screened positive to SMA, while genetic information was found in 9/10 of newborns. In the same vein, in Belgium, following a pilot study started in 2018, and that will last three years, 35, 000 newborns have been screened and 5 of them addressed to appropriate centers for early treatment. And finally, in Germany, in a similar study conducted from January 2018 to February 2019, 165,525 babies were screened and 22 cases of SMA reported. In conclusion, SMA newborn screening allows early diagnosis of newborns SMA cases and early access to treatment.

A two-year qualitative study of the Western Australian Undiagnosed Diseases Program, through a sociotechnical approach, addresses the need to re-examine complex work systems as regards the needs of rare diseases patients with multi-systemic diseases, that require multiple clinical specialties, and efficient care transitions in the rare diseases patients’ odyssey to obtain a diagnosis. The study highlights the need to ease patients care transitions by reorganising the work systems and in relaying efficiently collaboration between healthcare centers and specialists, and by using new technologies to reduce information processing.