India, 28th February 2022: The Organization for Rare Diseases India (ORDI) hosted the seventh edition of Racefor7 on Sunday to raise awareness for the rare disease community in India. The virtual race was flaged off by Dr. L. Swasticharan, Addl DDG & Director (Emergency Medical Relief). This year, 4000 people from across 200 venues participated in the race.

Racefor7 symbolically represents the 7000 known rare diseases, the estimated 70 million rare disease patients in India and the average of 7 years it takes to diagnose a rare disease. Keeping with the pandemic requirements, participants could run, walk or even cycle 7 kilometers from where they were located to lend their support for rare diseases. Every year in February, Racefor7 is held to honor Rare Disease Day, which occurs on the last day of the month.

Read :Only 1 in 10 people with rare diseases receive targeted treatment in India

Speaking at the inauguration, Dr. L. Swasticharan, Addl. DDG & Director Emergency Medical Relief; said. “I am happy that Organisation of Rare Diseases is hosting a mega event in India to raise awareness for rare diseases. There are many rare diseases in India but we are able to find solutions to only a few of them so far. So, we have to pledge that we help spread awareness for the rare diseases. I wish all our participants good luck for the race.”

Speaking about the event, Prasanna Kumar Shirol, Co-founder and Executive Director of ORDI, said, “It is really heartening to see so many people come out to support the cause of patients with rare diseases by participating in Racefor7. Every step taken is a major step forward in building advocacy and letting the voices of rare disease patients be heard stronger and wider which we know will lead to a better understanding of rare diseases and a brighter future for patients and their caregivers. Our sincere gratitude from  the rare disease community to all participants..”

All participants received a t-shirt bearing the name of one rare disease to help spread awareness, finisher medals and e-certificates.

Amit Mookim, Managing Director of IQVIA South Asia, main sponsors of Racefor7 said, “We are pleased to partner with ORDI to raise rare disease awareness in India. The wonderful turnout for Racefor7 even during the pandemic is indicative of the altruistic spirit of members of the public and we hope the support to the rare diseases community continues through the year. As an organisation, IQVIA remains committed to working with customers and other stakeholders to support rare diseases and ensure better outcomes for patients. “

Rare Disease Day, observed on the final day of February each year, is a worldwide movement aimed at achieving equity in social opportunity, healthcare, and access to diagnosis and therapies for those living with rare diseases. ORDI’s mission is to be a strong united voice for all rare diseases in India, to reduce inequalities and ensure that people living with rare diseases have access to the same resources as the rest of the population.

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Estimates indicate that over 70 million people are affected by rare diseases in India. Despite their prevalence in a small segment of the population, they are emerging as a public health challenge in the country. Further, only 1 in 10 patients receives disease-specific treatment. On Rare Diseases Day, the need of the hour is to raise awareness on these conditions and the need for early-stage genetic screening in expectant mothers.

The health ministry recently formulated the National Policy for Rare Diseases 2020, an amended version of the earlier draft released in 2017. Although the new policy mentions treatment as being available, it is only limited to certain categories. There is a need to include other diseases and ensure that more focus is given to R&D in this area, apart from creating awareness about these diseases.

A rare disease is a health condition which has a low prevalence and affects a small number of people. The most common conditions include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, and Lysosomal storage disorders.

Speaking about this, Ashish Dubey, COO and Co-founder, Redcliffe Life Sciences, says, “Given the prevalence of rare diseases and the fact that the research on their treatment is ongoing, it is important to ensure that every mother undergoes genetic screening at an early stage. Any genetic analysis post the birth of the baby can now be done in the fetus, in the first trimester itself. Screening for a broad range of conditions are becoming a routine aspect of prenatal care. Through Crysta we offer this facility wherein the parents-to-be can understand if the baby to be born has the likelihood of any diseases. In case of a positive diagnosis, it is possible to tailor treatment specific to the condition through what is called precision medicine. Many health-tech startups within the country are pioneering the use of precision medicine across use cases.”

Only 1 in 10 people with rare diseases receive targeted treatment in India. There is a lack of awareness about rare diseases in India which makes it imperative to come up with a comprehensive preventive strategy. Increased emphasis must be given to genetic screening programmes to prevent births of children with rare diseases and help parents take an informed decision.

Adding further, Dr Vishal Sehgal, Medical Director, Portea Medical, says, “Rare diseases are both a medical and social concern. People with these conditions not only suffer physically but also face a lot of emotional trauma. While screening is imperative in pregnant women to understand the risk factors, in case of children born with rare diseases, primary care plays an important role. Many of the diseases can be managed with replacement therapies administered for the patient’s entire life, or other supportive therapies. This is where organizations like Portea can play a supportive role in the form of rehabilitation and helping them manage their condition at home.”

According to Padma Shri Awardee, Dr K K Aggarwal, President, Heart Care Foundation of India (HCFI) and Confederation of Medical Associations of Asia and Oceania (CMAAO), “Treatment options for rare diseases are also available in the private sector and there is a need to extend funding to include support for follow-up therapy. For instance, in case of certain immune deficiency disorders that can be cured with treatment. The government should also consider amending the Insurance Act to provide cover for rare diseases and the scheme should be extended under the CGHS, PSU, ESI etc.”

Most diagnostics and treatment regimens available globally for rare diseases are now there in India as well. There are diagnostic tests available today that make use of the latest technology and reporting to give reliable data. The use of precision medicine and the data-pool gathered through such an approach will go a long way in solving the issue of rare diseases in our country. However, these facilities are expensive and usually available only in a few major cities. This is compounded by a lack of medical insurance schemes and government policies to support patients with rare diseases.

Under the draft policy released recently, however, the government proposed to fund one-time treatment cost to the tune of RS 15 lakh for certain treatable rare diseases. This is provided the patient is eligible under its flagship health insurance scheme, Ayushman Bharat’s Pradhan Mantri Jan Arogya Yojana.Researchers recently concluded a six-month pilot project of genome sequencing of Indians, which means the solution to the problem of rare diseases may just be around the corner.

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“A disease may be Rare but hope should not be” – Rare to the Rescue” .  Yes 80% of rare diseases are genetic but there is lack of awareness and scarcity of medical professionals. Early diagnosis through prenatal screening is helpful.

A young women athlete of 24 years suddenly develops severe eye pain out of the blue. Investigations confirm a condition called Neuromyelitisoptica (NMO). This is an autoimmune disease that can cause inflammation and demyelination of the optic nerves and spinal cord. The clinical presentation of NMO can include blindness, paralysis, or worse. Less than 1 person out of 100,000 is known to be afflicted with NMO worldwide and this condition often strikes in the prime of life. This is what happens in adult onset “Rare Disease” which suddenly strikes and forever changes the quality of life of both the patient and the family members.

Living with a condition is never easy for the person or for the family, but what adds up to rare diseases are that even health care providers are often unaware of the clinical presentations as it’s a black box and not much is known about it. Thus, the title of “Rare” interferes with the clinical management protocols and in most cases these are treated on basis of symptoms without much understanding of the condition. By definition, Rare diseases describe those medical manifestations which affect a very small number of the population. There are three aspects to describe the condition based on the total number of persons having the disease, its prevalence and non-availability of treatment for the disorder. This definition was put forward to raise awareness about clinical manifestations that are neglected by health care professionals. The World Health Organization (WHO) has suggested that a rare disease should be defined as one with a frequency of less than 6·5–10 per 10,000 persons. Many countries define ‘rare’ or ‘orphan’ diseases as those affecting less than a specific number of persons in the populations. About 11 % of infants born every year have a genetic problem and about 3-4 % has congenital abnormality.

Rare Diseases are denoted by a broad spectrum of disorders and clinical presentations that are variable not only from disease to disease but also from patient to patient suffering from the same disease. 80% of rare diseases have identified genetic origins whilst others are the result of infections, allergies and environmental causes. Some are degenerative and proliferate while 50% of rare diseases affect children. In most of the cases, there are no existing effective cures adding to the high level of pain and suffering endured by patients and their families.

India being an endogamous population, with consanguinity being practiced in many communities strewn across the nation, the people here are at increased the risk for “Rare Disease”. Due to such a social set up the frequencies of founder and common mutations are likely to be relatively higher in the Indian subpopulations. Rough estimates show that more than 56 million individuals in India are likely to be affected by single gene disorders (monogenic disorders) (Global Genes. RARE Facts and Statistics). With the lack of awareness in the general population about genetic disorders, and scarcity of specialized medical professionals and affordable genetic tests, the burden from these disorders is growing rapidly. This is, in part, due to the absence of a properly functioning social health care system in India, where the health professionals, including doctors and nurses, are not given enough exposure to medical genetics, molecular biology and rare disorders in their curriculum. There is also insufficient encouragement by the government for individual health insurance. Consequently, most of the population, especially in rural areas, does not opt for prenatal testing, predictive genetic diagnosis or timely genetic counseling with some families having more than one affected individual.

The WHO has stressed the need for prevention, early diagnosis and management of genetic disorders. The exact number of rare diseases is not known, but is estimated to be around 7000–8000 worldwide. With the rapid advances in genomic technologies in the last decade, the number is increasing steadily each year with new diseases and associated genes being discovered. About 80% of rare diseases are genetic in origin, many of which are thought to be monogenic (Global Genes. RARE Facts and Statistics).

Rare diseases include inherited cancers, autoimmune disorders, congenital malformations, and infectious diseases. Amongst others include Hemangiomas, Hirschsprung disease, Gaucher disease, Cystic Fibrosis, Muscular Dystrophies and Lysosomal Storage Disorders. The more common ones from out of 7,000 rare diseases are Down Syndrome, Muscular Dystrophy, Haemophilia, Thalassemia and Autism etc.

A majority of these diseases lack proper management options. Most diseases are treated / managed according to the symptoms. A major setback for diagnosis is the inability for clinicians to identify the disease and confirm upon a diagnosis in a timely manner leading to a delay in therapy. Early diagnosis is essential for proper disease management. The new born screening program in the USA covers about 31 metabolic disorders, which, when detected in the neonatal period, can be treated to prevent disability. An example of this is phenylketonuria (PKU), which can be managed nutritionally to save the child from the devastating effects of PKU. The average time to diagnose most rare diseases in the USA is about 7 years (Shire Human Genetic Technologies, 2013), causing significant anxiety and financial hardship to the families let alone increasing the morbidity in patients.

In developing countries, the time to diagnosis is even longer. Even after proper diagnosis, there is little hope for cure. Only around 400 FDA approved ‘orphan drugs’ are available on the US market, and ∼100 drugs approved by the European Medicines Agency (EMA) are available in the EU (Orphanet, 1997). Together, these approved drugs cover only about 11 million patients suffering from rare diseases leaving a majority of patients with no treatment options. Even where treatment is available, the cost is often prohibitive due to high development costs, fewer patients and lack of competition (Nogales, 2004). This is true for the enzymere placement therapies (ERT) that have been approved for mucopolysaccharidosis types I, II, IV-A and VI, Gaucher disease, Fabry disease and others. The prohibitive costs limit their use to very few patients in India and other low resource countries.

Charitable programs started for lysosomal storage disorders by companies and NGOs provide hope to some patients. These programs have also helped raise awareness among physicians, and stimulated them to make early and precise diagnosis. In India, enzyme therapies are provided either by the Pharma companies under their charitable programs, or by employers in India who are committed to giving ‘free’ health care to their employees and their dependents. A few associations of families of patients with rare disorders are also trying to persuade the government to cover the cost of therapies.

With the advance in technology genetic screening is at present not inaccessible through it is still extremely costly. Antenatal genetic screening helps the doctor in providing better health care services to the child or an affected adult. Prenatal screening of mothers or carrier screening in case of expectant parents helps to prevent child birth with gross anomalies or retardation. Genetic information about the condition would help doctors to confirm the diagnosis and also counsel and support families. Though genetic screening or diagnostic tests are at a hands distance, the choice of test, genetic counseling, and report interpretation are skills which need attention. There are very few genetic counselors to interact with the number of genetic reports generated. There is no guideline for screening and testing in case of most diseases. Also there are no protocol or rules that need to be followed at present in India to be able to judge the quality and judge the utility of such tests recommended by the clinicians. Most clinicians are not trained to understand or interpret such genetic report. The problem with insurance not covering the costs of a genetic screening or diagnostics test is a point of debate and policy makers would need to pay more attention towards having some kind of national guidelines for it.

Management of the diseases can also come in terms of prenatal screening and also detection or diagnosis in the fetus which would help families take an informed decision regarding the future of their pregnancy. Also this helps to plan properly in case an affected child is already present in the family. Advancement in technologies, have ensured that many chromosomal abnormality be detected as early as in 13 weeks of gestations and / also in an 8 celled blastcyst / embryo which helps parents to decide or even hope to have a healthy child.

Ref : Adapted from Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases’ community, Genet. Res., Camb. (2014), vol. 96, e009.

Dr. Dipanjana Datta
Molecular Geneticist, PhD, PDF (USA)
Senior scientist, Genetic Counselor
ORDI,
Bengaluru – 560055
Ph : +91 9980133300

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