Kirsten Johnson
Chair of the Council, Rare Diseases International
Just weeks ago, the World Health Assembly (WHA) passed a resolution for rare diseases.
The text noted that diagnosis of a rare condition can take over five years, and some never get a diagnosis; around 70% of rare conditions are genetic in origin; and nearly half of these start in childhood.1
United for rare disease equity
The WHA recognised ‘that insufficient screening programmes, including newborn screening and unequal access to diagnostic services, infrastructure and expertise contribute to delayed diagnosis and management.’
Rare Diseases International developed a global coalition of stakeholders, 280 strong, to support this resolution, bringing together people living with rare conditions and their families, clinicians, researchers, industry, government ministries, NGOs and others.
Recognising the benefits of early diagnosis
The overwhelming support for ‘recognising that early identification can prevent the onset of disease symptoms or delay the progression of both common and rare diseases, thereby reducing child mortality and morbidity, improving the quality of life of persons living with a rare disease and conferring significant benefits on them, their families, their caregivers and society as a whole’ was astounding, with this resolution passing unanimously.
The baby has a right to be
diagnosed and receive early
interventions and treatment.
Global push for newborn screening
This resolution shows global solidarity for change. There is a groundswell of support internationally for newborn screening, early interventions and pre-symptomatic treatment to save lives and give the best quality of life to those with life-long conditions. In the UK, a treatment must be available before a condition can be added to the newborn blood spot test. However, for many conditions, even if there are no treatments, narrowly understood, there are early interventions which would increase quality of life.
Early screening supports informed families
Complex conditions can present in a range of ways, with families being ping-ponged around the health system, costing money, time off work, impacting relationships and mental health. Newborn screening can also help people make informed family planning decisions around future children.
Newborn screening is a human right
I sit on the Lancet Commission for Rare Diseases, and we are framing our upcoming report through the human rights lens, building on the 2021 U.N. Resolution on Rare Diseases. Newborn screening is a human rights issue. The baby has a right to be diagnosed and receive early interventions and treatment to achieve the best life possible.
[1] World Health Organization. 2025. Seventy-eighth World Health Assembly – Daily update: 24 May 2025.
