India’s fight against rare diseases

Subject: Science and tech

Section: Health

Context:

The tragic death of 19-year-old child actress Suhani Bhatnagar from dermatomyositis, a rare disorder that causes inflammation in muscles, came in the same month as Rare Disease Day, which is marked today.

More on news:

The last day of February every year is consecrated to support crores of individuals who, because of their rare medical conditions, have long been neglected and stigmatized.
According to the World Health Organization, rare diseases afflict 1 or less per 1,000 population.
Barely 5% of the over 7,000 known diseases worldwide are treatable.
Most patients typically receive only basic treatment that alleviates symptoms.

What are ‘rare diseases’?

These are often serious, chronic, and life-threatening conditions.
WHO defines a rare disease as an often-debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population.
However, different countries have their own definitions.
A disease or disorder is defined as rare in India when it affects fewer than 1 in 2500 individuals.
There may be as many as 7,000 rare diseases, individual diseases may be rare, and the total number of people with a rare disease is large.
Examples: Lysosomal Storage Disorders (LSD), Gaucher disease, Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, hemophilia, MPS 1 and 2, and Fabry disease.

Treatment:

About 95% of rare diseases have no approved treatment even when a correct diagnosis is made.
Rare diseases are also called ‘orphan diseases’ and drugs to treat them are called “orphan drugs” because of the expensive nature of available drugs.

Rare diseases in India

India accounts for one-third of the global rare disease incidence, with over 450 identified diseases.
These range from widely known ones such as Spinal Muscular Atrophy and Gaucher’s disease to lesser-known ones such as Mucopolysaccharidosis type 1 and Whipple’s disease.
About 8 crore-10 crore Indians suffer from one rare disease or another; over 75% are children.

About National Policy of Rare Diseases (NPRD)

Aim:

To increase focus on indigenous research and local production of medicines.
To lower the cost of treatment of rare diseases.
To screen and detect rare diseases early at early stages, which will in turn help in their prevention.

Categorization:

The policy has categorized rare diseases into three groups:

Group 1: Disorders amenable to one-time curative treatment.
Group 2: Those requiring long-term or lifelong treatment.
Group 3: Diseases for which definitive treatment is available but challenges are to make an optimal patient selection for benefit, very high cost, and lifelong therapy.

Financial Support:

Provision for financial support of up to Rs. 50 lakhs to the patients suffering from any category of Rare Diseases and for treatment in any of the Centre of Excellence (CoE) mentioned in NPRD-2021, outside the Umbrella Scheme of Rashtriya Arogaya Nidhi.
Rashtriya Arogya Nidhi: The Scheme provides financial assistance to patients, living below the poverty line (BPL) and who are suffering from major life-threatening diseases, to receive medical treatment at any of the super speciality Government hospitals/institutes.

Centers of Excellence:

The policy aims to strengthen tertiary health care facilities for the prevention and treatment of rare diseases through designating eight health facilities as ‘Centres of Excellence and these will also be provided one-time financial support of up to Rs. 5 crores for the upgradation of diagnostics facilities.

Challenges in India:

We still don’t define ‘rare diseases’, a failure the policy attributes to a lack of sufficient data, as if regular data collection and epidemiological assessments are not the government’s job.
Less than 50% of the 450-odd rare diseases identified in India are treatable. Treatments approved by the Drugs Controller General of India are available for just about 20 rare diseases and can be availed only from Centres of Excellence (CoEs).
Since CoEs are few (12), unevenly distributed, and uncoordinated, late diagnosis, inadequate therapies and lack of timely availability are the norm.
The Budget’s allocation for rare diseases, although increasing over the years, remains low at ₹93 crore for 2023-2024.
Last year, the government waived off GST and customs duty on medicines for rare diseases.
But this exemption applies only to drugs which are to be “imported for personal use” and not to the ones commercially available in India.