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Research : IORD & Rare Diseases in India

There are an estimated 6000 to 8000 rare diseases in the world and any research on any of these diseases is always a welcome development.

While different countries define rare diseases differently as what is considered rare in a country may not be considered as such by others, but a disease is generally believed rare if it affects between 6% and 8% of the population.

Statistically, according to EURORDIS – Rare Diseases Europe and Orphanet Ireland, the estimated number of people living with a rare disease is around at 300 million worldwide including a significant number of them living in India.

This is where research comes into play to understand the prevalence of Rare Diseases in India and awareness level of the people towards various inter-connected issues such as genetic contribution, existing support system, government policies on rare diseases and orphan drugs.

Baseline Knowledge of Rare Diseases in India - A Survey by IORD

The aim of this study – authored by 15 healthcare researchers and published in International Journal of Rare Diseases and Disorders – was to evaluate the basic knowledge about Rare Diseases in the general population.

In the survey conducted by Indian Organisation for Rare Diseases, 6005 participants were reached out with a questionnaire to know their awareness level of RDs and ODs. Only 599 responded.

The outcome was shocking: Forty-three percent of health professionals had not seen rare disease patients, and a large percent of practicing physicians had not seen even one rare disease patient in their entire professional practice.

Entire research study can be accessed here.

A Journey Together: Rare Diseases and Orphan Products – India

It was on March 20, 2015 that Indian Organisation for Rare Diseases published a 16-page White Paper on Rare Disease in India in support of a National Policy for Rare Diseases in India, detailing the roadmap that India needs to chalk out to address its interconnected issues in a holistic manner.

This IORD Policy Document on Rare Diseases sought the assistance of external experts (former US NIH, FDA executives) to study the size of the problem, to gather successful examples from their countries, to objectively define the priorities and match the needs of India.

In brief, the roadmap detailed in IORD policy document touched the following points on Rare Disease.

Rare Diseases – Global Perspective
Rare Diseases, Orphan Products, Opportunities – India
Lessons Learned From The Experiences Of Other Countries
Commitment from Policy Makers
Expectations and Limitations of Societal Needs
Power of Patient Advocacy Groups
Research Consortiums
Orphan Product Regulations
Development of National Policy for Rare Diseases

You can access the copy of IORD’s 2015 Policy Document titled “A Journey Together: Rare Diseases & Orphan Products in India” here.

Two years later, Ministry of Health and Family Welfare Government of India finally come out with a National Policy for Treatment of Rare Diseases in 2017. It also acknowledges and cites IORD’s White Paper in its list of references (12th reference) on page 34 of the document.

NATIONAL POLICY FOR TREATMENT OF RARE DISEASES-2017

You can access the copy of Ministry of Health and Family Welfare Government of India’s National Policy for Treatment of Rare Diseases policy document here. However, this policy was kept in abeyance as the union ministry was working on another revised policy on RD that came out in 2020.

Broadly, 2017 Rare Diseases Policy throws light on the following undermentioned aspects:

Global Scenario
Indian Scenario
Rare Diseases As A Public Health Issue
Lack of Epidemiological Data
Varying Definitions and Prevalence Thresholds
Diagnosis of Rare Diseases
Research and Development
Unavailability and High Cost of Treatment
Balancing Competing Priorities of Public Health
Policy Development
Prof. V.K.Paul Committee Report
Prof. I.C.Verma Sub-Committee Report
Dr.Deepak Tempe Committee Report
Implementation Strategy
Role of Ministries / Department for Inter-Sectoral and Convergent Action To Tackle Rare Diseases

NATIONAL POLICY FOR RARE DISEASES - 2020

The Union Ministry of Health and Family Welfare reviewed the National Policy for Treatment of Rare Diseases (NPTRD) 2017 and came out with a new policy to overcome the shortcomings in the former.

The NATIONAL POLICY FOR RARE DISEASES – 2020 had the following terms and references:

To Review The National Policy for Treatment of Rare Diseases, 2017 and to suggest amendments / changes as may be required.
To Define Rare Diseases for India.
To Draft National Policy for Rare Diseases.
To suggest vision and strategy in country’s context.

The core contents of National Policy for Rare Diseases-2020 touched the following points:

It categorised Rare Diseases in India into three groups:

Rare Disease Disorders for which one-time treatment is available.
Diseases requiring long term treatment but with manageable cost.
Diseases requiring long term treatment with exorbitant cost.

It talks of providing financial support of up to Rs. 15 lakh under the Umbrella Scheme of Rashtriya Arogaya Nidhi to be funded by Central government (The financial support has now been enhanced to Rs 50 lakh).

It also focuses on the preventive strategies at three different levels:

Primary Prevention by identifying high-risk patients.
Secondary Prevention by taking steps to prevent the onset of complications in Rare Disease Patients.
Tertiary prevention through provision of better care and medical rehabilitation to Rare Disease Patients.

It Lists 8 Centers of Excellence for Rare Diseases (now 4 more Centres of Excellence have been added as on date):

All India Institute of Medical Sciences, New Delhi,
Maulana Azad Medical College (MAMC), New Delhi
Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Postgraduate Institute of Medical Education and Research(PGIMER), Chandigarh
Center for DNA Fingerprinting & Diagnostics, Hyderabad.
King Edward (VII) Memorial Hospitaland Seth Gordhandas Sunderdas Medical College, Mumbai
Institute of Post Graduate Medical Education and Research, Calcutta
Centre for Human Genetics(CHG), Bangalore
All India Institute of Medical Sciences, Jodhpur
Institute of Child Health, Egmore, Chennai.
Sree Avittam Thirunal Hospital (SAT)
All India Institute of Medical Sciences, Bhopal

Research

Research : IORD & Rare Diseases in India

Baseline Knowledge of Rare Diseases in India - A Survey by IORD

A Journey Together: Rare Diseases and Orphan Products – India

NATIONAL POLICY FOR TREATMENT OF RARE DISEASES-2017

NATIONAL POLICY FOR RARE DISEASES - 2020

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