Innovative measures to combat rare diseases in China: The national rare diseases
registry system, larger-scale clinical cohort studies, and studies in combination
with precision medicine research
#MMPMID28357175
Song P
; He J
; Li F
; Jin C
Intractable Rare Dis Res
2017[Feb]; 6
(1
): 1-5
PMID28357175
show ga
China is facing the great challenge of treating the world's largest rare disease
population, an estimated 16 million patients with rare diseases. One effort
offering promise has been a pilot national project that was launched in 2013 and
that focused on 20 representative rare diseases. Another government-supported
special research program on rare diseases - the "Rare Diseases Clinical Cohort
Study" - was launched in December 2016. According to the plan for this research
project, the unified National Rare Diseases Registry System of China will be
established as of 2020, and a large-scale cohort study will be conducted from
2016 to 2020. The project plans to develop 109 technical standards, to establish
and improve 2 national databases of rare diseases - a multi-center clinical
database and a biological sample library, and to conduct studies on more than
50,000 registered cases of 50 different rare diseases. More importantly, this
study will be combined with the concept of precision medicine. Chinese
population-specific basic information on rare diseases, clinical information, and
genomic information will be integrated to create a comprehensive predictive model
with a follow-up database system and a model to evaluate prognosis. This will
provide the evidence for accurate classification, diagnosis, treatment, and
estimation of prognosis for rare diseases in China. Numerous challenges including
data standardization, protecting patient privacy, big data processing, and
interpretation of genetic information still need to be overcome, but research
prospects offer great promise.
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