The role of patient organisations in implementing newborn screening for rare diseases
A recent article published in the Rare Disease and Orphan Drugs Journal highlights the critical role of patient organisations in promoting newborn screening for rare diseases. The goal of these tests is to improve the quality of life for patients and their families. Early detection of rare conditions allows for prompt medical intervention, preventing disease progression. Patient and family communities work tirelessly to expand the range of diseases in newborn screening programs and make them accessible to everyone.
This article details a collaboration between the IRDiRC (International Rare Disease Research Consortium) and the PACC (Patient Advocacy Constituent Committee), a patient committee within the consortium. It describes various actions and initiatives led by several organisations and presents key conclusions drawn from their efforts.
Through educational campaigns, scientific evidence gathering, and collaboration with authorities and the medical community, these organisations have successfully advocated for the inclusion of more rare diseases in newborn screening programs across several countries. The article highlights the efforts of the Colombian Federation for Rare Diseases (FECOER), which has achieved legislative advancements to expand neonatal screening in Colombia, and the Cyprus Alliance for Rare Disorders (CARD), which successfully lobbied for the inclusion of new metabolic diseases in Cyprus’s screening program.
It also mentions the work of Rare Diseases South Africa, which is piloting a project to extend neonatal screening using the infrastructure of existing health programs. In Europe, EURORDIS collaborates with European Union institutions to standardise newborn screening. At the same time, SMA Europe, an alliance supporting people affected by spinal muscular atrophy, established the SMA NBS Alliance in 2020 to promote early detection of SMA, as early diagnosis greatly enhances treatment effectiveness.
In conclusion, newborn screening is a powerful tool for improving the quality of life of people with rare diseases and their families. Patient organisations play a vital role in making these tests widely available by working alongside healthcare professionals, governments, and society.
