Rare Disease & National Rare Disease Policy 2021.

What are Rare diseases?

A rare disease is any disease that affects a small percentage of the population such as fewer than 200,000 people across a broad range of possible disorders.
These rare diseases are majorly thought to be genetic and are passed on from one generation to the next.
In India, Haemophilia, Thalassemia, Sickle cell anemia and Primary Immuno Deficiency in children, auto-immune diseases, and Lysosomal storage disorders such as Pompe disease and Gaucher’s disease are on the rare diseases list.
India has close to 50-100 million people affected by rare diseases or disorders, the police report said almost 80% of these rare condition patients are children and a leading cause for most of them not reaching adulthood is due to the high morbidity and mortality rates of these life-threatening diseases.
Govt. of India has set up a 5-member panel to present a report which can help in tackling the problem of rare diseases.

Rare disease management:

Effective RD management requires prevention, early diagnostics, timely intervention, rehabilitation of patients, and an efficient data-driven public health surveillance system.

Primary prevention:

It is essential to identify causal factors and plan systematic prevention strategies.

RDs can be caused by various factors including genetics, environment, exposure to teratogens (infections or toxic agents), maternal health, nutritional deficiencies, or unknown factors.
The primary prevention strategy of childhood RDs needs to integrate prevention mechanisms in existing prenatal and postpartum health programs.
Primary reproductive health care is an essential public health service and crucial to RD management.

Secondary prevention: Screening and Early Identification

The secondary preventive measures seek to detect conditions early, ideally before symptoms appear to enable early action.

For many RDs, prompt treatment can stop the disease before it reaches a crippling stage and avoid long-term disability.
One such preventative measure that has been effectively used to manage or prevent the effects of curable RDs in children in several countries is newborn screening.
Rashtriya Bal Swasthya Karyakram (RBSK) is NHM’s flagship program for child health and screening that aims to improve the survival outcomes of children born with congenital anomalies through early identification and intervention.

Diagnosis

In India, on average, diagnosis of RDs takes about 7 years or more after the onset of symptoms and in many cases, it remains undiagnosed.

District Early Intervention Centres (DEIC) provides service coordination and referrals to appropriate tertiary healthcare services for further diagnosis, treatment, and management.

Treatment and management

Among all the globally identified RDs, only 5% are treatable.

Most RDs do not have an approved treatment and patients usually receive non-targeted functional therapies for their symptoms.
In the absence of epidemiological data, NPRD 2021 identifies three groups of disorders as RDs based on their treatment.

What is the National Rare Disease Policy 2021?

Aim:

Increase focus on indigenous research and local production of medicines.
Lower the cost of treatment of rare diseases.
Screen and detect rare diseases early for prevention.

Major Provisions of the Policy:

Categorization:

Group 1: Disorders amenable to one-time curative treatment.
Group 2: Diseases requiring long-term or lifelong treatment.
Group 3: Diseases with available treatment but challenges in patient selection, 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 Arogya Nidhi.
Financial support of up to Rs. 20 lakhs under Rashtriya Arogya Nidhi for rare diseases listed under Group 1.
Rashtriya Arogya Nidhi assists patients with major life-threatening diseases, regardless of their poverty status.
Voluntary crowdfunding for treatment through a digital platform for individual and corporate contributions.

Centres of Excellence:

Designation of eight health facilities as ‘Centres of Excellence’.
One-time financial support of up to Rs. 5 crore for upgrading diagnostic facilities.

National Registry:

Creation of a national hospital-based registry of rare diseases.
Ensuring comprehensive data and definitions for research and development purposes.