Understanding the role of patient organisations in promoting and developing newborn screening

A new article has been published in Rare Disease and Orphan Drugs Journal, describing the work of six different patient organisations around the globe to advocate for newborn screening (NBS) and better awareness of rare diseases. In this collaboration between the International Rare Diseases Research Consortium (IRDiRC) and the patient advocacy constituent committee (PACC), the authors describe the different approaches each organisation takes towards advocacy, and draw conclusions on best practices for public engagement in the promotion of NBS programmes.

NBS programmes are important public health interventions which can support the early diagnosis of various rare diseases, thus enabling timely medical intervention and minimising the risk of long-term disease complications. As such, the widespread introduction, expansion, and awareness of such programmes is a priority for many rare disease advocates.

In this article, the authors examine the approaches of six different patient organisations who have prioritised NBS: the Colombian Federation of Rare Diseases (FECOER); the Cyprus Alliance for Rare Disorders (CARD); Rare Diseases South Africa (RDSA); the Asia Pacific Alliance of Rare Disease Organizations (APARDO); EURORDIS; and SMA Europe. As a whole, they employ techniques such as education, evidence gathering, and fostering multidisciplinary collaboration to advocate for the expansion of screening panels and implementation of NBS programmes.

Overall, the article demonstrates the crucial role of patient organisations in developing and implementing NBS policy. In particular, the authors recognise the essential involvement of such organisations to ensure equitable access to NBS.