A rare disease, also known as an orphan disease, is a medical condition that affects a small percentage of the population.
Published Feb 23, 2024 | 8:00 AM ⚊ Updated Feb 23, 2024 | 8:00 AM
Rare diseases are defined differently, but they are generally considered to affect a relatively low number of people. (Shutterstock)
The Centres of Excellence (CoEs) from South India, dedicated to the treatment of rare diseases, have significantly underutilised the funds allocated by the Union Government in the last three years.
The reason? The General Financial Rules pull them one way, while the country’s emphasis on the “Make in India” policy pulls them the other way.
According to an answer presented in the Lok Sabha, the Centre for DNA Fingerprinting & Diagnostics, in collaboration with Nizam’s Institute of Medical Sciences (CDFD-NIMS) in Hyderabad, received ₹7.38 crore in but utilised only ₹27 lakh.
Similarly, the Government Medical College of Thiruvananthapuram utilised a mere ₹53 lakh out of the allocated ₹3 crore.
The Center for Human Genetics (CHG), partnering with the Indira Gandhi Hospital in Bengaluru, was granted ₹17.38 crore, of which only ₹10 crore has been utilised.
The Institute of Child Health and Hospital for Children (ICH & CH) in Chennai has utilised all its funds.
A rare disease — also known as an orphan disease — is a medical condition that affects a small percentage of the population. Rare diseases are defined differently in various regions, but they are generally considered to affect a relatively low number of people.
In the United States, a disease is considered rare if it affects fewer than 200,000 individuals, whereas in the European Union, a disease is defined as rare if it affects fewer than 1 in 2,000 people.
There are thousands of different rare diseases, and they often have a genetic basis, meaning they are caused by mutations in the genes.
Due to their low prevalence, rare diseases can be challenging to diagnose and may lack dedicated research, resulting in limited treatment options for affected individuals.
The treatment for rare diseases varies depending on the specific condition, but common approaches include symptomatic management to improve the patient’s quality of life, specialised medical care provided by expert teams, and participation in clinical trials or experimental therapies.
Genetic therapies, such as gene replacement or editing, may be explored for conditions with known genetic causes.
Orphan drug programmes incentivise the development of treatments for rare diseases.
The high cost of treatment of rare diseases is primarily driven by the unique challenges associated with these conditions. Rare diseases affect a small patient population, resulting in limited market potential for treatments.
The development of therapies for rare diseases involves extensive research, clinical trials, and regulatory processes, contributing to high research and development expenses.
Governments and regulatory agencies offer incentives, such as orphan drug designation, to encourage the development of treatments for these conditions, but these incentives may also contribute to higher prices.
Additionally, the complexity of some rare-disease therapies, such as gene therapies, further adds to development and manufacturing costs.
Limited competition in the market, regulatory challenges specific to rare diseases, and issues related to ensuring access for patients further contribute to the elevated costs.
Very few companies make these drugs, some of which can cost up to ₹17 crore for each dose.
In 2021, the Union government took a significant step to address the healthcare needs of patients with rare diseases by launching the National Policy for Rare Diseases (NPRD).
As part of this initiative, the establishment of CoEs was announced to ensure specialised treatment for individuals affected by rare diseases. The Union government has established 12 CoEs in the country till date.
For the southern region, the Centre for Human Genetics (CHG), in collaboration with the Indira Gandhi Hospital in Bengaluru, was designated a CoE in the fiscal year 2021-22.
In the following year, the Centre for DNA Fingerprinting & Diagnostics partnered with the Nizam’s Institute of Medical Sciences in Hyderabad, and the Institute of Child Health and Hospital for Children (ICH & CH) in Chennai were announced as CoEs.
In 2023-24, the Sree Avittam Thirunal (SAT) Government Medical College in Thiruvananthapuram was added to the list of designated CoEs.
The NPRD aims to provide financial support of up to ₹50 lakh to patients suffering from any category of rare diseases, facilitating their treatment in any hospital.
This financial assistance is a crucial component of the government’s commitment to addressing the healthcare challenges faced by individuals with rare diseases in the country.
Even though the programme started in 2021-22, institute like the CDFD-NIMS have not utilised the funds allocated to them due to the fact that the institutions have to follow the General Financial Rules to float tenders for medicines and the treatment required from outside the country, even though the patients have to wait for the government’s approval.
After all, institutes like the CDFD falls under the Union government, and therefore have to follow the financial rules.
“As a Central government institute, we adhere to the general financial rules, and due to the ‘Make in India’ initiative, we are restricted from importing medicines costing more than ₹5 lakh. Consequently, we are actively seeking permission from the Union Department of Biotechnology to be exempted from the global tender requirement,” Dr Ashwin Dalal, the chairperson of the CoE of the CDFD-NIMS, told South First.
He added that the CoE currently treats over 75 patients with medicines manufactured in India using the available funds.
“Despite the perception that these funds are underutilised, the funds primarily cover medicines made in India, benefitting the 75 patients receiving treatment,” explained Dalal.
He pointed out that while the financial constraints prevent them from purchasing expensive medicines, it didn’t diminish the impact on patients already benefiting from the available resources.
He, however, also said: “It’s important to highlight that our institute, being a Central government entity, must adhere to specific financial regulations that might differ from state government institutes.”
Regarding patient selection for treatment, the CoE had a committee overseeing the process, he noted.
“Patients need to fill out a form provided by the CoE. Each month, the committee reviews these forms and approves treatments accordingly,” he explained.
“Although many patients receive approval for treatment, the challenge lies in procuring the medicines. “Meanwhile, the efforts continue to secure permissions for the procurement of more expensive medicines,” he said.
“I personally don’t believe that a significant amount remains unutilised at CoEs,” said Prasanna Shirol, the co-founder of the Organisation for Rare Diseases India (ORDI), a non-profit national-level umbrella organisation representing the collective voice and needs of all rare disease patients and stakeholders.
“The money from the central government is released only on the approval of the patient,” he confirmed to South First.
“There are many patients waiting, and we have seen patients being approved for getting treatment and receiving them as well. So, there could be a delay in approval, you know. However, CoEs are utilising 80-90 percent of the funds monthly,” he said.
He said that the delay in approval, present in only some centres, might contribute to the perception of unutilised funds.
He also explained that in cases like Gaucher disease, where some states keep patients pending because the annual treatment cost exceeds ₹50-60 lakh. They may initiate treatment until a certain fund threshold, and then pause, he said.
“This pause might be due to the procurement process, when you need 100 vials for the treatment over the year but you can’t keep these vials openly: You need cold chains. So, you won’t procure all the vials at once. you’ll procure some and keep the funds for the remaining procurement,” added Shirol.
He also pointed out the scenarios where funds are reserved for specific needs, such as special diets for patients diagnosed with inborn errors of metabolism (IEM) immediately after birth. In such cases, a reserve of funds is necessary to procure these specialised diets.
“The Speaker suggests that funds might be strategically parked for future use. For example, if a patient requires a certain medication weekly, funds could be approved for the patient and parked until needed, procuring the medication quarterly or as required,” he said.
Shirol also pointed out that the funds provided by the patient were less as well, as the approvals were key in delay.
“Many CoEs don’t have bone marrow transplantation facilities. So, they have to outsource it to private institutions. These CoEs wait for government approval while the patient keeps waiting for the treatment,” explained Shirol.
