Govt submits rare diseases policy to Delhi HC: Will aim to facilitate effective diagnosis, affordable treatment

The Indian government has approved and finalised the country’s first National Policy for Treatment of Rare Diseases. The Ministry of Health and Family Welfare filed an affidavit before the Delhi High Court on Thursday, with which it submitted a copy of the national policy.

The policy was submitted after the Delhi High Court had ordered the ministry, in three separate writ petitions, to frame it. A copy of the document, which has not been made public yet, was procured by Firstpost.

The Delhi High Court, in a judgment passed in 2014, had ordered the Delhi government to provide Mohammad Ahmad, a seven-year-old suffering from Gaucher disease with the necessary enzymes. This, according to Ahmad’s advocate Ashok Agarwal, gave the legal struggle for a policy on treatment of rare diseases the required impetus.

Gaucher is a hereditary disorder caused by the absence of an enzyme that breaks down fat. Without this enzyme, fat builds up all over the body, resulting in bone pain anaemia and eventually death.

In this judgment, Justice Manmohan’s conclusion, that “every person has a fundamental right to quality healthcare that is affordable, accessible and compassionate”, paved the way for the policy on rare diseases.

The seven-year-old son of a rickshaw puller had moved to the court seeking government support in treatment as the cost of medication was far beyond what he could effort.

“Presently, 13 cases of a similar nature are being heard in the Delhi High Court,” Agarwal said. The high court had ordered the health ministry to finalise a draft within six months, in November 2016.

Prasanna Kumar Shirol, a founding member of Organisation for Rare Diseases India, told Firstpost that his organisation had participated in the consultations held by the ministry as stakeholders.

Explaining why a national health Policy is required for treatment of rare diseases, Shirol, whose daughter Nidhi suffers from Pompe disease – that causes a progressive degeneration of muscles – said, “Treatment for patients suffering from rare diseases is prohibitively expensive, which is one of the reasons why a separate policy for treatment of these diseases is required.”

The policy stated that the IC Verma committee, appointed by the health ministry, reported that treatment of such diseases ranges from about Rs 40 lacs to 1.72 crores, which is an unbearable burden for any family.

The newly framed policy has set for itself the goal of forming a corpus fund by the Government of India with an initial funding of Rs 100 crores. The states would also require to set up a similar fund with 60 percent contribution from the Centre.

To ensure sustainability of the corpus, Public Sector Units and Corporate houses will be encouraged to contribute funds as part of corporate social responsibility, the policy said.

Shirol added that diagnosis of such rare diseases is equally time-consuming. “The average time required to accurately diagnose a rare disease is seven years, even in countries with an advanced diagnostic mechanism such as the United States,” he adds.

The reason for the tediousness of the diagnostic process in such diseases is the multi-organ involvement. “In other diseases, one or two tests can lead to an accurate diagnosis. But in rare diseases, blood tests, enzyme tests and hormone tests of various kinds are required,” he explained.

The policy says, “Diagnosis of a rare condition may take up to several years, owing to the difficulty in diagnostic modalities and lack of awareness among doctors. For many rare diseases, no diagnostic method exists, or diagnostic facilities are unavailable.”

Since 80 percent of the rare conditions are genetic in nature and this field is yet evolving, technical impediments make the process of diagnosis time-consuming.

“Traditional genetic testing can only address a few genes at a time. As a result, physicians must often provide their best guess on which genes to investigate. If the test is negative, further testing will be required, which is an expensive and time-consuming process,” the policy said.

According to the policy, the government is also going to accredit institutions to diagnose and treat rare diseases.

Unavailability of drugs is another reason why the need of a separate policy was felt says Shirol. He said that there are nearly 8,000 rare diseases, but only 500 of them have FDA approved drugs, and hence the patients of remaining diseases are to be provided with supportive care system.

A Livemint report said that the reason behind the low availability of drugs for rare diseases is economics. “Given the low volumes at which the drugs needed to treat such diseases would be consumed, pharmaceutical companies have little commercial incentive to produce them,” the report said.

Setting the goal to make drugs for rare diseases available and affordable, the policy entrusts the Drug Controller General of India with the responsibility of exploring the feasibility of amending the Drug and Cosmetics Act, to add appropriate provisions to make clinical trials and import of ERTs possible.

Since rare diseases are not covered by insurance, the policy entrusts the responsibility of covering rare diseases under insurance scheme to the Department of Financial Services.

It further says, “Employees State Insurance Corporation (ESIC)to explore whether the ceiling limit on funding treatment for rare diseases can be increased through suitable amendments,”

Most of these diseases are genetic in nature and categorised as a pre-existing condition by the insurance sector. The policy is also likely to make abortion of pregnancies legal, where the foetus is proven to be with a rare disease, in ante-natal tests.

“As a preventive measure, consider feasibility of providing pre-conception andante-natal genetic counselling and screening programmes for diagnosing genetic disorders, which would provide a choice to parents about giving birth to children with genetic disorders, especially to families that have a diagnosed genetic disorder or a high risk for it,” says the policy.

As per the policy rare diseases are, in most cases, serious, chronic, debilitating and life-threatening, often requiring long and specialised treatments.

In addition, they often result in some form of handicap, sometimes extremely severe. About 50 percent of new cases are in children and are responsible for 35 percent of deaths before the age of one, 10 percent between the ages of one and five years and 12 percent between five and 15 years.

The policy has given Indian Council for Medical Research the responsibility of patient registry, as India has no epidemiological data regarding rare diseases.

In the United States, 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). The European Union defines rare diseases as a life-threatening or chronically debilitating condition affecting no more than five in 10,000 people. Japan identifies rare diseases as diseases with fewer than 50,000 prevalent cases.

But, due to a lack of epidemiological data, India has not formulated a definition of rare diseases. The policy sets the goal to collect epidemiological data to arrive at a clear definition.

A rare disease is a health condition of particularly low prevalence that affects a small number of people compared with other prevalent diseases in the general population.

In spite of the fact that rare diseases are individually rare, they collectively affect a considerable size of the population in a country, which is normally between six percent to percent in any country.