Rare Diseases – A Huge Unmet Need in Diagnosis, Treatment and Management


By Corporate Communications

Rare diseases are usually defined as disorders that occur rarely and do not affect a large number of people.

KMS_Keynote_Rare_Diseases_5There are 6,000-8,000 rare diseases identified globally, out of which 450 have been identified in India. Some rare diseases in India are: haemophilia, thalassemia, sickle-cell anaemia and primary immuno deficiency in children, lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, cystic fibrosis, hemangiomas and certain forms of muscular dystrophies.

The World Health Organization (WHO) considers a disease rare if it affects fewer than 6.5-10 persons per 10,000 people. Developed countries have defined their own thresholds in the context of their respective population sizes–in the US, it is 7.5 people in 10,000; in Australia, 1; and in Japan, 4.

KMS_Keynote_Rare_Diseases_6Paradoxically, despite the low prevalence of rare diseases, they collectively affect a substantial proportion of a country’s population. There are an estimated 350 million people suffering from rare diseases worldwide, and the majority of them are children.

The exact burden of rare disorders in India is not known due to the lack of epidemiological data. Currently, we do not have a standard definition for rare disorders. However, extrapolating from the international estimate that 6-8% of the population is affected by rare diseases, India has between 72 to 96 million such patients, which is a significant number!

Rare Diseases Need to be Treated as a Public Healthcare Priority

Given these kind of numbers, it is imperative to recognise rare diseases as a public health issue and put them on the national health agenda to address the huge unmet needs in diagnosis, treatment and management of these diseases.


Rare diseases are severe and chronic, and often life-threatening. They cause severe disabilities that prevent patients from doing even simple daily tasks. Thus, rare diseases impose a significant societal, medical and economic burden on patients, communities and healthcare systems.

In terms of treatment options available, there has been limited research in the field of rare disease because they are not a public health priority. Where treatment is available, it is often unaffordable due to exorbitant costs.

Several multinational companies offer treatment protocols in India but the cost is prohibitive–for Enzyme Replacement Therapy (ERT), for instance, the cost ranges from Rs 50 lakh to 1.5 crore annually, depending on the patient’s body weight. It is impossible for most families to fund treatment of rare diseases, without any government support.

Since every person has a fundamental right to quality health care, the government should fulfil its obligation to ensure that people with rare diseases have access to affordable treatment options.

Fortunately, over the past few years, rare diseases have started getting some attention. This has been primarily attributed to the relentless work of patient organisations and the healthcare fraternity. They have highlighted the plight of the patients and showcased the urgency of providing timely treatment. Until recently, policy makers and public health authorities had no or minimum awareness about these conditions. However, today, we can see a shift in public opinion, which has resulted in the execution of certain noteworthy actions.

What India is Doing for Rare Diseases

Picture1In May 2017, the Indian government approved the country’s first National Policy for Treatment of Rare Diseases.

The policy has instituted a Rs 100 crore fund for diagnosis and treatment of rare diseases. The fund is to be used for rare genetic disorders only and not for rare blood disorders (like hemophilia, thalassemia and sickle-cell anemia) or for rare cancers, as there are separate government programmes for this already.

The policy recommends that state governments create a similar corpus, and share allocations with the central government in a 40:60 ratio.

The Health Ministry has also initiated the process of preparing a patient registry to collect epidemiological data on rare diseases.

To tackle the huge challenge presented by rare diseases, the government is also seeking the help of Indian Inc. The Rare Diseases policy therefore encourages public and private sector firms to contribute under provisions available to them in the Companies Act and the CSR Rules.

What Needs to Be Done


Early Diagnosis

Early diagnosis is crucial, but due to lack of awareness among patients as well as doctors, diagnosis is often delayed. On average, it takes 7 years to diagnose a rare disease after the onset of symptoms. The diagnostic process is tedious and requires high-end technology, making it expensive. Genetic testing technology, for instance, can cost between Rs 15,000 and 1 lakh.

 Karnataka, which has taken the lead in by becoming the first state in the India to come up with a draft of a Rare Diseases and Orphan Drugs Policy, has recommended the implementation of preventive and carrier testing as a means of reducing morbidity and mortality.

Given that over 80% of rare diseases have a genetic basis, the Karnataka policy has suggested next-generation sequencing technologies that allow for diagnosing hundreds of rare diseases in a single test. The Central government should give tax breaks to make such diagnostic tests more widely available in India.

Moreover, the government should invest in awareness and outreach programmes to ensure early diagnosis. In fact, there 30 to 50 disorders that can be eliminated through new born screening. Prenatal genetic testing for rare diseases should be made compulsory between the 11th and 12th weeks of pregnancy and once diagnosed the fetus can be terminated.

We have a lot of ground to cover when it comes to early diagnosis of rare diseases. Whereas nearly 80% of newborns in China are screened for genetic disorders, the corresponding percentage in India is less than 1%. Experts suhgest that that a Pulse Polio like national program should be initiated by the government to make genetic testing compulsory.

The health authorities will also need to establish one standard procedure that should be compulsory and universal to ensure quick and early diagnosis of rare diseases in India.

Further, healthcare workers, specifically in Tier II and III cities, should be provided on-the-job training and education regarding rare diseases and their diagnosis, thereby ensuring that cases in remote areas are also identified on time.

I was happy to read recently that as many as 27 indigenous diagnostics of rare genetic diseases may soon be available to patients across the country, thanks to the Institute of Genomics and Integrative Biology, which has transferred the technologies to Dr Lal Path Lab, one of India’s biggest pathological laboratory networks. Dr Lal Path Lab would bring these diagnostics to the market through its network of hundreds of diagnostic laboratories across the country, according to a media report.

Dedicated Orphan Drugs Policy

Given that the market is small, rare diseases are not considered profitable for drug developers and manufacturers globally. This makes the available treatments prohibitively expensive. Most of the innovative medicines are developed and manufactured in the West and there are no Indian manufacturers of drugs for rare diseases.

In 1983, the US government passed the Orphan Drugs Act to stimulate research in the treatment of diseases that have been largely ignored by the pharmaceutical industry. Similar laws have been enacted in Japan, Australia and the European Union. All these laws offer incentives such as shorter clinical trials, extended exclusivity, tax breaks and high rates of regulatory success. They have made it commercially attractive for pharmaceutical companies to invest in the R&D required to find a cure for these diseases.

India also needs such a dedicated Orphan Drugs Policy! This will enable India companies to come up with indigenous technology to develop innovative treatments for rare diseases.

Aten Biopharmaceuticals in Bengaluru is one of few companies working to develop drugs for rare diseases in India. The company started in 2013, and has received some funding from the Department of Biotechnology.

Further, the government should invest in basic research on rare diseases; ensure health data are digitised and epidemiological studies aggregated; and articulate a government policy to guide data sharing.

Patients suffering from rare diseases in India should also be encouraged to participate in global clinical trials. This is critical because if medicines are only tested on western population, they may or may not prove to be effective in treating Indian patients.

Health insurance for rare disease

India’s insurance laws put patients suffering from rare diseases at a disadvantage because private insurance companies treat genetic disorders as pre-existing conditions and on that ground, exclude them from coverage. Since most rare diseases are genetic, patients are routinely denied insurance cover.

The Karnataka policy asks that the Insurance Regulatory and Development Authority re-consider this exclusion and affirmatively require that insurance companies provide basic coverage of rare diseases at reasonable premiums.

China, which has the world’s largest population of people with rare diseases — numbering between 15 million and 20 million, has rolled out state medical insurance for some drugs over the past decade.

 Make Treatment Affordable

The government should provide incentives for global companies like Genzyme, Shire and BioMarin to work out licensing agreements with Indian manufacturers. The government should also look at bulk procurement of orphan drugs. These steps would drastically bring down cost of the drugs and enable easy access to therapy.

The Indian government should allow duty-free import of orphan drugs into India and provide other incentives (e.g., sales tax exemption, etc.) to help bring down prices.

Families living below the poverty line should be given free and supportive services in private or government hospitals for rare diseases.



I believe NGOs, disease specific patient advocacy groups, key opinion leaders, academicians, hospitals and government agencies need to come together to demand that patients affected by rare diseases should be entitled to the same quality of treatment as other patients. Various stakeholders will need to work together if we are to ensure that the ‘right to healthcare’ is sacrosanct for every patient.

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