expert corner
PRECISION MEDICINE CAN OFFER
HOPE TO RARE DISEASE PATIENTS
A
The rare diseases have not received the attention they deserved within the health
policy initiatives in India, feels Prasanna Kumar B Shirol
rare disease is any disease that affects a
small percentage of the population. There is
no universal definition of Rare Disease. For
example, in the USA, it is defined strictly
according to its prevalence, specifically any disease
or condition that affects less than 200,000 persons;
in Japan is 50,000 persons; in Korea 20,000; in
Taiwan10,000; and in Australia 2000, etc. The
World Health Organization (WHO) has suggested
that a rare disease should be defined as one with a
frequency of less than 6.5–10 per 10,000.
The exact number of rare diseases is not known, but
is estimated to be around 7000–8000 world wide
increasing steadily each year with new diseases and
associated genes being discovered. About 80
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BioVoiceNews | August 2016
percent of rare diseases are genetic in origin and 50
percent of them affect children. All rare diseases
taken together affect about 6–8 percent of the
world’s population.
KEY CHALLENGES:
1. Awareness – Lack of awareness among general
public is very low, unfortunately even among
medical fraternity.
2. Early Diagnosis – Key challenge associated with
rare diseases globally is the inability of the medical
system to properly diagnose these diseases in a
timely manner, Early diagnosis is essential for
proper disease management. The average time to
diagnose rare disease is 7 years even in developed