The National Policy for Treatment of Rare Diseases (NPTRD) was formulated by the Ministry of Health and Family Welfare (MoH&FW), Government of India in July, 2017. The policy, however, has faced challenges with implementation. One of them was bringing the states on board and the lack of clarity on the quantum of support for the states from the Centre in terms of tertiary care.
Due to these challenges, an Expert Committee was constituted by MoH&FW in November, 2018 to review the NPTRD, 2017. The Expert Committee, along with the approval of the competent authority, finalised a draft of the National Policy for Rare Diseases and placed it in the public domain on January 13, 2020 for all stakeholders to review and recommend. Reviews and recommendations were examined by an Expert Committee set up by the Directorate General of Health Services (DGHS). It has finalised the policy after further deliberations, examination of recommendations. There are between 7000 and 8000 rare diseases, but less than 5 per cent have therapies available to treat them. About 95 per cent rare diseases have no approved treatment and less than 1 in 10 patients receive disease-specific treatment. Where drugs are available, they are prohibitively expensive, placing immense strain on the resources.
Rampant delayed diagnosis
There are also varying definitions of rare diseases. The World Health Organisation (WHO) defines rare disease as a debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. The US defines rare diseases as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). The European Union (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 per cent) in the country.
According to the ‘Rare Disease Impact Report: Insights from patients and the medical community’ (a report commissioned by Shire and developed in collaboration with an external advisory board), it takes patients in the US an average of 7.6 years and patients in the UK an average of 5.6 years to receive an accurate diagnosis, typically involving as many as eight physicians, four primary care and four specialists. In addition, two to three misdiagnoses are typical before arriving at a final diagnosis. Delay in diagnosis or a wrong diagnosis increases the suffering of the patients exponentially. There is an immediate need to create awareness amongst the general public, patients, their families and doctors. Training of doctors to facilitate early and accurate diagnosis, standardisation of diagnostic modalities and development of newer diagnostic and therapeutic tools is an urgent requirement.
Lack of ‘Orphan Drugs’
Despite the progress that life sciences has made in the last few decades, availability of medicines and therapy related to rare diseases to prevent morbidity and mortality has remained low. As per a paper published in the Lancet, there is no approved treatment for 95 per cent of rare diseases. The number of people suffering from rare diseases also termed as ‘orphan diseases’ are comparatively small, hence they do not constitute a significant market for pharma companies. Drugs to treat rare diseases are also called ‘orphan drugs’ and very few pharma companies make these drugs as the cost of R&D is monumental.
Continue reading your story on the app
Continue reading your story in the magazine
“Our allergic rhinitis drug is technologically superior, masks bitterness and 52% cheaper”
Alok Malik, Group Vice President & Head, India Formulations, Glenmark Pharmaceuticals, Mumbai
Techade REDEFINING FUTURE OF life sciences industry
Digital transformation is the topmost priority for global corporations and in a highly connected world that will remain largely contactless for an extended period, there are shifts in business models, customer experience, operations, and employee experience. With technology adoption accelerating across sectors, 2021 is likely to put the spotlight on the emergence of growth verticals in the life sciences sector namely healthcare, pharma, medical devices, diagnostics etc. India is now standing at the cusp of a re-imagined decade of technology, commonly being referred to as ‘Techade’. While we anticipate a significantly better global economic growth this year as compared to 2020, we are also very much looking forward to the enhancement being brought to the Indian life sciences industry as it continues its transformation journey in this redefined techade.
Multifarious Cataract cures emerge
Being documented as India’s most significant cause of bilateral blindness that is for both eyes, cataract has become an economic and social burden that is increasing with the ageing population.
WHO Updates Guidelines For TB Detection
The World Health Organization (WHO) has issued an update to its consolidated guidelines on the detection of tuberculosis (TB) and drug-resistant TB.
Is The 5G Health Scare Unfounded?
The introduction of the 5G network has been mired in numerous controversies. Governments across the globe, activists and telecom operators are embroiled in a bitter fight, filing lawsuits and protesting in large numbers. Although most of the available research on electromagnetic fields (EMF) reveals that there are no harmful effects from mobile radiation, some studies do reveal that it has the potential to damage the very structure of the DNA. Cancer, impaired reproductive health and numerous other disorders, including psychiatric, have been attributed to 5G. Will the implementation of the 5G network have serious health implications, or are these fears unfounded? We try to weigh-in the opposing sides.
Is Antibody Cocktail Offering The Right Mix?
Although the clinical outcomes, as well as clinical trials, have been very promising for patients treated with the antibody cocktail so far, the Delta plus variant is considered to be resistant to the monoclonal antibody (mAb) cocktail treatment.
Stride Ventures leads Rs 25 Cr debt round in MediBuddy
Stride Ventures, one of India’s leading venture debt funds, has led a debt round of Rs 25 crore in Bengaluru-based startup MediBuddy that helps its users consult specialist doctors, order medicines and book lab tests from the comfort of their homes.
‘‘We see growing interest of healthcare testing labs, Pharmaceutical QC and R&D labs in implementing next-gen lab automation solutions''
US-based Abbott Informatics, formerly known as STARLIMS, is one of the companies with a long and established presence in the space of lab automation. Taking pride in offering the world class technological solutions, the company has recently announced the launch of STARLIMS Quality Manufacturing Solution QM12.2 which is built on the latest STARLIMS Technology V12 platform, along with STARLIMS SDMS (Scientific Data Management System) V12.2. To find out more about the company’s automated offerings in India, BioSpectrum spoke to Pradeep Nagisetty, Regional Sales Manager - India & Sub Continent, Abbott Informatics - STARLIMS, Hyderabad.
‘Juvenile Idiopathic Arthritis' remains a puzzle
LET'S TALK HEALTH & SCIENCE
India proposes BRICS Consortium to tackle NCDs as flagship programme
Experts deliberated on emerging issues in the various fields of Biotechnology and Biomedicine at the fourth BRICS Working Group meeting on the subject area.
New meets old
A bold modern addition shakes up a traditional Cape in a historic Massachusetts town
Give your lawn and garden the care they need by removing debris, dividing crowded perennials, and adding mulch—so plants can come back stronger
Home Finances - Living under one roof
What it takes to make room in your home for mom and dad—or members of the younger generation
You'd best be geeked about our electric performance future
Change is the only constant in life. So said Greek philosopher Heraclitus some 2,500 years ago. Boy, was he right. Especially, it seems, vis-à-vis the car industry these days.
VINTAGE BLOWN 1965 CHEVY II “FUNNY” CAR THAT WAS SERIOUS BUSINESS
As Drew Hardin recalled, “Back in 1964, the term Funny Car wasn’t capitalized and was usually surrounded by quotation marks, because the cars those words described had altered wheelbases that made them look ‘funny.’
Cool home upgrades and problem-solving product picks
Trend 9.21 2022 Honda Civic Sedan
An unnecessary upgrade we’ll happily take
The Bitter Pill
This is a tough one to write. Remember in last month’s column when I described damage sustained to the Number 8 cylinder in the small-block I had just dropped into my ’67 C10? I had just changed the accelerator pump nozzle, then all hell broke loose after I started the engine and revved it a few times to see if the nozzle change worked. There was a brief clanging sound that stopped as suddenly as it started, but the engine developed a miss as a result.
TOH general contractor Tom Silva and TOH host Kevin O’Connor create an insulated ice chest that will keep cold beverages on tap and serve as an extra seat on a deck or patio
THE MOST EXCITING NEW CARS, TRUCKS, AND SUVS COMING IN 2021 OR LATER, ALL IN ONE PLACE