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National Policy For Rare Diseases : Implications & Shortfalls

23 May 2021 6:29 AM GMT
National Policy For Rare Diseases : Implications & Shortfalls

The concept of 'rare disease' can be termed as a phenomenon to which medical professionals are well acquainted with, but not the remaining majority of populace. Except for those who are visited with this catastrophe and the people who are working towards this cause, by and large it is still an unknown concept. As a matter of fact, there is no universally recognized or...

The concept of 'rare disease' can be termed as a phenomenon to which medical professionals are well acquainted with, but not the remaining majority of populace. Except for those who are visited with this catastrophe and the people who are working towards this cause, by and large it is still an unknown concept. As a matter of fact, there is no universally recognized or a common definition for rare diseases. At the same point of time, different nations have come forward with their own definitions based on various criteria that include prevalence of such disease amongst its population, health care system and resources. The said definitions were discussed in National Policy for Rare Diseases, 2021[1], which reads as;

"WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources. In the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). EU defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than 5 in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases (0.04%) in the country."

As far as India is concerned, it was noted in the policy that there is a need for further research so as to understand the extent of the existing diversity of definitions for rare diseases and to examine the scope of arriving at a definition, which is best suited to the conditions in our country. It was further noted that till such time the data is formulated to arrive at a definition, for the purpose of the policy, certain groups of disorders were identified and categorized by experts based on their clinical experience as Group 1, Group 2 and Group 3. In each of the groups, different disorders are included in accordance with the standard of norms fixed thereat.

The policy states that around 7000 to 8000 disorders come within the ambit of rare diseases, and the commonly reported diseases in our country includes Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher's disease, Mucopolysaccharidoses, Pompe disease, fabry disease etc.) small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias etc.), Cystic Fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies and spinal muscular atrophy, etc. It is estimated that a total of 450 rare diseases are recorded within India till now, and the list is not exhaustive[2]. It is also estimated that worldwide rare diseases affect approximately 400 million people and about 80% of these diseases have a genetic origin, which ranges from minor to life threatening[3].

As the name suggests, the number of persons suffering from individual rare diseases is so small that they do not constitute a significant market for drug manufacturers to develop drugs and bring the same to market[4]. For the same reason, rare diseases are often referred as 'orphan diseases' and the drugs therein are called as 'orphan drugs'[5]. The price of the orphan drugs is very much high considering the extensive research involved, as also to enable the manufacturer to recoup the amount expended for the research and development[6]. It is beyond any cavil that only a few pharmaceutical companies are manufacturing drugs for rare diseases globally and there are no domestic manufacturers in India except for Food for Special Medical Purposes(FSMP) for small molecule inborn errors of metabolism[7]. However, treatment of rare diseases is not pinned down only because of the prohibitive cost of orphan drugs involved but also due to certain other factors too. The scarcity of knowledge and training on rare diseases makes the diagnosis as well as management of these diseases difficult[8]. The delay in the diagnosis or misdiagnosis can make the situation further woeful to the patients and the healthcare system as well[9]. Apart from the said factors, there are certain additional areas which further worsens India's plight. To name a few would be lack of awareness, lack of infrastructure, cultural influences, lack of government initiatives and funding[10]. Thus, it can be definitely said that rare diseases also affect physicians and healthcare system in general.

As discernable from the earlier paragraphs, a policy on rare diseases was approved by the Ministry of Health and Family Welfare on 03-04-2021[11], before which India admittedly did not have any such policy or guidelines pertaining to rare diseases. Though a rare disease policy was formulated during 2017, the same was shelved on objections being raised by certain State Governments and accordingly an expert committee was constituted to further study the matter[12]. After obtaining report from the expert committee as also with the approval of the competent authority, a draft policy was prepared and the same was placed in the public domain inviting comments/views from all the stakeholders[13]. However, the suggestions that appeared in the National Policy for Treatment of Rare Diseases, 2017 was conspicuously absent in the new policy. The erstwhile policy provided for creating a corpus fund for Rs 100 Crores, wherein the proportion of Central Government and State Government were fixed at 60:40, and further suggested the feasibility of amending Drugs and Cosmetics Act, 1940, to include appropriate provisions on drugs for rare diseases, including provisions to facilitate clinical trials and import of Enzyme Replacement Therapies (ERTs)[14]. The latest policy however does not have this corpus fund and only has got a maximum amount of Rs 20 Lakhs as one time assistance. As far the feasibility of amendment of Drugs and Cosmetic Act, 1940, is concerned, the same is also absent in the present policy. It is stated in the policy that research for repurposing the drugs would be encouraged. It further states that approval for new drugs and decision related to trials will continue to be provided by Drugs Controller General of India under the New Drugs and Clinical Trial Rules, 2019. It may be pertinent to point out at this juncture that even though the policy provides for requesting the Ministry of Finance for reduction in custom duties on import of medicines related to rare diseases, the same is yet to happen. In fact, on browsing through the crowd funding platforms such as milaap[15] and impactguru[16] etc, the cases of children afflicted with rare diseases can be seen where the price of the drugs are at a whopping amount of Rs 16 Crores.  

When the history of rare diseases and orphan drugs are closely examined, it can be seen that only a full-fledged action by Government can have some impact by supporting and upgrading the public health infrastructure. The first legislation in this regard was passed by US Congress during 1983, known as Orphan Drug Act, whereby the production of orphan drugs were encouraged by providing financial incentives to pharmaceutical industries thereby reducing its potential losses of marketing drugs to a small market[17]. Further, the US Congress passed another legislation during 2001, known as the "Muscular Dystrophy Community Assistance, Research and Education Amendments of 2001" (MD CARE Act), which promoted surveillance and research, improved screening techniques, fostered collaboration among muscular dystrophy centers, and stimulated the development of educational programs for all types of muscular dystrophy. Research that resulted from the MD CARE Act included early detection, diagnosis, prevention, and treatment for muscular dystrophy[18]. Yet another legislation that was passed in this arena was the Rare Diseases Act, 2002 whereby Office of Rare Diseases was given statutory authorization as a federal entity enabling it to recommend a national research agenda, coordinate research, and provide educational activities for researchers[19]. It may also be worthwhile to point out that by virtue of Orphan Medicinal Product Regulation (EC) 141/2000, European Union had taken steps to stimulate research and to promote the development of orphan drugs to treat patients with rare diseases. Europe has further developed the European Project for Rare Disease National Plan (EUROPLAN) to facilitate the creation of national plans in the region[20]. In fact, some of the other countries has also got similar programs whereby they are providing financial and marketing incentives to produce medicines for patients with rare diseases, along with subsidizing life-saving drugs for patients who are afflicted with serious rare medical conditions[21]. Some of the said programs also provide for rare disease management, to create a database and also for newborn screening[22]. To put it pithily, it can be seen that law-based interventions aimed at curbing rare diseases have encouraged the production of orphan drugs and accommodated health care systems to the needs of patients with rare diseases.    

However, much before the formulation of such a policy, the Courts of India already seized the matter with respect to rare diseases. The High Court of Delhi, in Mohammed Ahmed (Minor) vs Union of India and Others, had declared unequivocally after surveying the precedents that "Just because someone is poor, the State cannot allow him to die. In fact, Government is bound to ensure that poor and vulnerable sections of society have access to treatment for rare and chronic diseases, like Gaucher especially when the prognosis is good and there is a likelihood of the patient leading a normal life. After all, health is not a luxury and should not be the sole possession of a privileged few".[23] The Court, following the precedents laid down by the Hon'ble Apex Court declaring that right to health and medical care is a fundamental right under Article 21 read with Articles 39(e), 41 and 43[24] and taking note of various international conventions[25] to which India is a party, also included suggestions as to how to tide over the predicament caused by rare diseases. On a cursory perusal of draft of the policy that came out during 2017, it can be seen that the High Court of Delhi issued similar directions in other matters also and the case numbers therein finds a place in the draft[26].

An identical situation was faced by High Court of Kerala in the case of Manoj M vs State of Kerala and others[27], wherein petitioner's son was suffering from Pompey, which is a Lysosomal Storage Disorder and the child required eight vials Myozyme every fortnight. One vial of Myozome would come close to Rs 45,000/- and the yearly amount of treatment would come to Rs 43,00,000/-. The petitioner approached Court seeking a direction to provide Enzyme Replacement Therapy to his son at free of cost. Though the writ petition was stiffly resisted by the State, it was categorically declared by the Court that Article 21 imposes a duty on the Government to take whatever steps that are necessary to ensure that drugs are made available to such persons, for a welfare state cannot permit anybody to die for the reason that he/she has no means to afford the expenditure involved. It would be apposite to quote a relevant paragraph from the said judgement to understand the reasoning of the Court;

"7. Article 21 of the Constitution casts an obligation on the State to preserve the life of every citizen. Article 24(2)(b) of the United Nations Convention on the Rights of the Child, to which India is a party, casts an obligation upon the State parties to ensure the provision for necessary medical assistance and health care to all children. Article 25.01 of the Universal Declaration of Human Rights to which India is a party affirms that everyone has the right to a standard of living adequate for the health of himself and of his family, including food, clothing, housing and medical care and necessary social services. Article 12.01 of the International Covenant on Economic, Social and Cultural Rights to which India is a party makes it obligatory for the State parties to recognise the right of everyone to the enjoyment of the highest attainable standard of physical and mental health. The scope of Article 21 is, therefore, to be understood in conformity with the terms of the aforesaid International instruments."

Finally, the writ petition was allowed and the State Government was directed to extend Enzyme Replacement Therapy at free of cost to son of the petitioner. As against the said judegment, the State Government preferred a writ appeal wherein an interim order of stay was granted by the Division Bench. However, the Court thereupon took the responsibility to itself in initiating treatment for the children afflicted with rare diseases and has issued successive directions to see to it that the treatment is being continued as also funds are being generated. The Court also impleaded the manufacturer of the drug, and had also directed the State Government at one instance to have a dialogue and try to arrive at an understanding with respect to procuring the drugs. It was heartening to note that the Court appealed to the legal community as such, along with Central and State Governments to leave no stone unturned so as to generate funds for this cause[28]. The Court again paved the road by donating a considerable amount towards the corpus[29]. The said orders were widely publicized, and were praised by everyone from all spheres of the society.

There is no doubt that 'Public health and sanitation; hospitals and dispensaries', comes within the domain of State List at serial number 6. At the same point of time, it shall also be borne in mind that by virtue of item 19 in Concurrent List, 'Drugs' would come within the domain of Central as well as State Governments. If the scheme of the policy for rare diseases is closely examined, it can be seen that the Central Government will provide an amount of Rs 20 Lakhs for those rare diseases that require a one-time treatment[30]. The policy further states that beneficiaries for such financial assistance would not be limited to BPL families, but extended to about 40% of the population, who are eligible as per norms of Pradhan Mantri Jan Arogya Yojana, for their treatment in Government tertiary hospitals only. Thereafter, the policy states that the Government will notify selected Centres of Excellence (COE), which will be premier Government tertiary hospitals with facilities for diagnosis, prevention and treatment of rare diseases[31]. The proposed COEs shall be given one-time financial support up to a ceiling of Rs 5 crore for procurement of equipment as per individual centers need for strengthening patient care services for screening, diagnosis and prevention (prenatal diagnosis) of rare diseases based on a gap analysis[32]. The Policy also states that Nidan Kendras have been set up by Department of Biotechnology (DBT) under Unique Methods of Management and treatment of Inherited Disorders (UMMID) project for genetic testing and counseling services. Their main function would be to perform screening, genetic testing and counseling for rare diseases[33]. In almost all the other scenarios stated in the policy, the Central Government has taken the role of a facilitator and not of a front runner. By virtue of Article 253, exclusive power is vested with parliament to make law for giving effect to any treaty, agreement or convention with any other country or countries or any decisions made at any international conference. As evident from the judgements cited above, it is also clear that India is a signatory to various international covenants which mandate right to adequate physical and mental health to the citizens of its signatories. From the recent Covid-19 episodes itself, it is clear that even though public health comes within the ambit of State List, the Central Government cannot be a mute spectator of the process taking place therein. The validity and relevance of the rare disease policy has to be tested in the wake of aforesaid factors.

When the policy is examined scrupulously, it can be noted that the policy is liable to be revisited for manifold reasons. The first one is for violation of Article 14 of Constitution of India. It is trite law that nothing stops the government from classifying its subjects on the basis of various criteria, but the same cannot be done arbitrarily or whimsically. When a classification is being made, it has to be noted that as to whether such a classification is based on (1) any intelligible differentia which distinguishes those who are grouped together from others, and (2) the differentia must have a rational relation to the object sought to be achieved by the act. Admittedly, the price of the drugs involved for rare disease/orphan drugs are at such prohibitive costs that even if a family is not from BPL category (Below Poverty Line), they also will not be able to meet the expenses of the drug or treatment. The Central Government had further provided for a one-time assistance that too only for an amount of Rs 20 Lakhs, for the rare diseases falling within group 1 of the policy. No presumption can be taken as to the fact that if a family is floating above BPL category, they will be able to meet the expenses of the treatment. After admitting the difficult scenario involved within the policy itself [34], the Central Government could not have classified its citizens on the basis of BPL condition and above the same. On further scrutinizing the policy, it can also be seen that the policy is in violation of Article 21 too, for the reason that the policy does not have anything in its fold to safeguard the lives of its citizens if they cannot meet the expenses of the treatment. It can be said without any doubt that the policy issued now will not be efficacious enough to meet the contingencies caused due to the rare diseases. Once the policy is tested against the aforesaid constitutional provisions and international covenants to which India is a party, it is only plausible that the Central Government will have to take a cue from the policies or legislations existing in other countries, and should come up with a legislation dealing with orphan drugs or in the alternate should bring a suitable amendment in the Drugs and Cosmetic Act, 1940, for the development of orphan drugs and its manufacture. Considering the fact that the Republic of Philippines, which lies much lower to India in its GDP output, came out with an enactment known as The Rare Disease Act of the Philippines, during 2016, would show that what is lacking with the Central Government is only a will to act and nothing more[35]. Instead of being a mere facilitator, the Central Government will have to be the front runner.

It would be only apt to conclude this article with quote of Martin Luther King Junior, which was cited by the High Court of Delhi[36] "of all forms of inequality, injustice in health care is the most shocking and inhumane".      

  (Arjun Raghavan is an advocate practicing before the High Court of Kerala. He may be reached at [email protected] Views are personal)


[1] National Policy for Rare Diseases, 2021

(accessible at

[2] India Rare Disease Initiatives – A Review, published in International Journal of Innovative Medicine and Health Science, Volume 12, 2020, p.82-88.

(accessible at

[3] A Compilation of National Plans, Policies and Government Actions for Rare Diseases in 23 Countries , published in Intractable & Rare Diseases Research, 2018; 7(4): 213-222,

(accessible at

[4] supra, National Policy for Rare Diseases, 2021, at page 9.

[5] ibid

[6] ibid

[7] ibid

[8] supra, A Compilation of National Plans, Policies and Government Actions for Rare Diseases in 23 Countries, at page 213.

[9] ibid

[10] Organisation for Rare Diseases India (ORDI) – Addressing the Challenges and Opportunities for the Indian Rare Diseases' Community, published in Genetics Research, vol 96, 2014,Cambridge University Press, accessible at;

[11] Union Health Minister Approves National Policy for Rare Diseases, 2021
(accessible at

[12] supra, National Policy for Rare Diseases, 2021, at page 4.

[13] ibid

[14] National Policy for Treatment for Treatment of Rare Diseases, 2017, accessible at

[15] Vedika Won't Make It To Her 1st Birthday Without Your Help, accessible at (

[16] Ayaansh Needs World's Most Expensive Drug. You Are His Last Hope, accessible at

[17] supra, A Compilation of National Plans, Policies and Government Actions for Rare Diseases in 23 Countries, at page 214.

[18] ibid

[19] Rare Diseases Act of 2002, accessible at (

[20] supra, A Compilation of National Plans, Policies and Government Actions for Rare Diseases in 23 Countries, at page 215.

[21] id, at page 216.

[22] ibid

[23] Judgement dated 14-04-2014 in WP(C) 7279 of 2013 by the High Court of Delhi, accessible at (

[24] Paschim Bangal Khet Mazdoor Samity and Others Vs. State of W.B. and Another, (1996) 4 SCC 37; Consumer Education and Research Centre and Others Vs. Union of India and Others, (1995) 3 SCC 42; Confederation of Ex servicemen Associations and Ors. vs. Union of India & Ors., AIR 2006 SC 2945; State of Punjab & Ors. vs. Ram Lubhaya Bagga, (1998) 4 SCC 117.

[25] Universal Declaration of Human Rights; International Covenant on Economic, Social and Cultural Rights; International Covenant on Civil and Political Rights, 1966.

[26] supra, National Policy for Treatment for Treatment of Rare Diseases, 2017,at page 16.

[27] ILR 2016 (4) Ker. 583

[30] supra, National Policy for Rare Diseases, 2021, at page 21.

[31] ibid

[32] ibid

[33] supra, National Policy for Rare Diseases, 2021, at page 22.

[34] supra, National Policy for Rare Diseases, 2021, at page 9.

[35]supra, A Compilation of National Plans, Policies and Government Actions for Rare Diseases in 23 Countries, at page 218.

[36] supra,Judgement dated 14-04-2014 in WP(C) 7279 of 2013, at page 1.

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