Diseases

Health refers to the state of being well enough to function well physically, mentally and socially. Health is a relative term: for a flute player, having enough breathing capacity and being in good mental health to play flute must be healthy.

Such situations may lead to an unhealthy life. It basically depends on the environment:

1. Physical environment such as disasters and Famine.
2. Social environment: The physical environment is decided by the social environment. For example, if nobody picks garbage in the locality! No one cleans the drain; Also, social equality and harmony necessary for individual health. Such issues are generally associated with poverty.

There is a difference between being disease-free and being in good health. A person might not be able to function well even without any disease.

Diseases:

When either the functioning or the appearance of one or more systems of the body change for the worse.

1. Symptoms: things we feel are wrong. Headache, rashes, cough, loose motions etc. They do not indicate disease; For example, Headache might just mean stress.
2. Signs of disease: What physicians will look for based on symptoms

Disease v/s disorder

The main difference between a disease and a disorder is that a disease has a known cause, while a disorder does not:

• A disease is a medical condition with a specific cause and recognizable signs and symptoms. Diseases are involuntary physiological or biological illnesses.
• While disorder refers to a group of symptoms that disrupt normal physical or mental functions, but does not have a known cause. Disorders are functional abnormalities or disturbances.

For example, Anxiety disorder is a disorder that is characterised by an uncontrollable intense feeling of fear. However, it may or may not have a clear cause. Whereas, diabetes is a disease with clear symptoms, which can also include anxiety.

Classification of Diseases

Diseases based on duration

The most obvious factors that determine how we perceive the disease is its duration:

• Acute disease: Disease that lasts only for a short period. For example, the Common cold lasts for a few days.
• Chronic disease: That lasts for a lifetime. For example, infection-causing Elephantiasis: is common in some parts of India.

Diseases based on mechanism

Based on what causes diseases, these can be of two types –

1. Infectious Diseases: Diseases where microbes are immediate causes. This is because microbes can spread rapidly in the community.
2. Non-infectious diseases are due to certain types of abnormalities but not by infectious agents

Non-Communicable Diseases:

Non-infectious or Non-communicable diseases (NCDs) are a group of diseases that cannot be communicated from one person to another;

These are not caused by infectious agents but by factors related to lifestyles. For example, some cancers are due to genetic abnormalities. High blood pressure due to excessive weight or lack of exercise.

Communication Diseases often have a severe reaction in a short time. Non-communicable diseases rarely

They affect individuals over an extended period causing a socio-economic burden to the nation.

• Nearly71% of all deaths worldwide occur due to NCDs such as hypertension, diabetes, cardiovascular diseases, chronic respiratory diseases, and cancer.
• In 2008, NCDs accounted for 5.2 million deaths in India. A rising trend in the burden of NCDs is expected in the years ahead.
• India: Health of the Nation’s States report, 2016, 55% of the total disease burden in India was caused by NCDs, with the burden of NCDs increasing across all States from 1990 to 2016.

Causes of Non-Communicable diseases:

Lifestyle issues:

• Lack of physical activity: It leads to obesity which commonly leads to malnutrition, cardiovascular disease, pancreatitis and diabetes.
• Unhealthy diet: A diet rich in fats, oil and sugar can lead to obesity, hypertension, thyroid imbalances diabetes etc.
• Use of tobacco: According to the 4^th round of the Global Youth Tobacco Survey (GYTS-4) conducted in 2019, nearly 50% of the students aged 13-15 used some form of tobacco product. Worryingly, tobacco cessation activities and rehabilitation have not been included in response plans. This is the leading reason for the high incidence of different types of cancers in India.
• Use of Alcohol: There is a strong link between alcohol and non-communicable diseases, particularly cancer, cardiovascular disease, liver disease, pancreatitis and diabetes

Socio-Economic Issues

• Ageing Population: With fewer communicable diseases and longer lives, age-related diseases have become common, raising the need for geriatric care facilities.
• Rapid unplanned urbanization and globalization – For example, air pollution is the most prevalent risk factor among surveyed the population (76%), followed by low physical activity (67%), and poor diet (55%). These three factors even beat stress, tobacco consumption, and obesity.
• India’s food subsidy structure promotes the growth of a calorie-based diet.
• Environment: Pollution and disasters.

Major Non-communicable Diseases:

1. Cardio-vascular diseases
2. Diabetes
3. Cancers
4. Mental Illness
5. Rare Diseases
6. Other Illnesses

Cancer

Cancer is a broad term used to describe a group of diseases that occur when abnormal cells in the body begin to grow uncontrollably. These cells can form masses known as tumours, which may invade surrounding tissues and spread to other parts of the body through the blood and lymphatic systems.

There are over 100 types of cancer, each classified according to the type of cell it originates from, such as carcinoma (from epithelial cells), sarcoma (from connective tissues), and leukaemia (from blood-forming cells).

Causes of Cancer

Cancer arises due to mutations in the DNA within cells. These mutations can result from a variety of factors, often occurring due to a combination of genetic predisposition and environmental influences. The most common causes of cancer include:

Exposure to Carcinogens:

1. Tobacco Use: Smoking and chewing tobacco are the leading causes of lung cancer, as well as cancers of the mouth, throat, and pancreas. Carcinogens in tobacco damage DNA and lead to mutations.
2. Radiation Exposure: Exposure to ultraviolet (UV) radiation from the sun or tanning beds can lead to skin cancer, while exposure to ionizing radiation (such as from X-rays or radioactive materials) can increase the risk of various cancers, including leukemia and thyroid cancer.

Lifestyle issues

3. Unhealthy Diet and Obesity: Diets high in processed foods, and fats, and low in fibre have been linked to cancers such as colorectal and breast cancer. Obesity also increases the risk of several cancers due to hormonal changes and chronic inflammation.

Other causes

4. Infections: Certain viruses, like human papillomavirus (HPV), can lead to cervical cancer, while the Epstein-Barr virus (EBV) is associated with lymphoma. Hepatitis B and C increase the risk of liver cancer.
5. Genetics and Family History: A family history of certain cancers can increase the likelihood of developing similar cancers. Some inherited genetic mutations, such as BRCA1 and BRCA2, are known to elevate the risk of breast and ovarian cancer.

Types of Cancers

Carcinomas

Carcinomas are cancers that begin in the epithelial cells, which are the cells that line the inside and outside surfaces of the body. They are the most common type of cancer. Carcinomas can be further divided into:

• Adenocarcinoma: Starts in glandular (secretory) cells. Examples include breast cancer, colon cancer, and prostate cancer.
• Squamous Cell Carcinoma: This begins in the squamous cells, which are found in the skin, lungs, and other organs. Lung and skin cancers (non-melanoma) are examples.
• Basal Cell Carcinoma: A type of skin cancer that originates in the basal cells, the lower part of the skin’s outer layer.
• Melanoma: Melanoma is a cancer that develops from melanocytes, the pigment-producing cells in the skin. It is the most serious form of skin cancer due to its ability to spread to other parts of the body (metastasize). While melanoma often starts in the skin, it can also occur in the eyes and internal organs.
• It includes Renal, stomach, oesophageal carcinomas etc.

Sarcomas

Sarcomas are cancers that arise in the connective tissues of the body, such as bones, muscles, tendons, cartilage, and fat. Sarcomas are relatively rare compared to carcinomas but can occur in many parts of the body.

• Osteosarcoma: A cancer that starts in bone cells.
• Liposarcoma: Begins in fat cells.
• Rhabdomyosarcoma: Starts in muscle cells.

Central Nervous System Cancers

These are cancers that originate in the brain or spinal cord and are classified as central nervous system (CNS) cancers. These can arise from the brain cells themselves or from the protective tissue surrounding the brain and spinal cord.

• Gliomas: A type of cancer that starts in glial cells, which provide support to neurons. Types include glioblastomas and astrocytomas.
• Meningiomas: Develop in the meninges, the protective lining of the brain and spinal cord.

Endocrine Cancers

These cancers begin in the endocrine glands, which produce hormones. Examples include:

• Thyroid Cancer: Affects the thyroid gland and can be of different subtypes, such as papillary or follicular thyroid cancer.
• Pancreatic Cancer: Starts in the pancreas and is known for being difficult to detect in its early stages.
• Ovarian Cancer: Ovarian cancer originates in the ovaries and is often not diagnosed until it has reached advanced stages due to its subtle symptoms. Treatment typically involves surgery and chemotherapy.
• Breast Cancer: Breast cancer is one of the most common cancers, particularly in women, though men can also develop it. It begins in the cells of the breast tissue, often in the ducts (ductal carcinoma) or lobules (lobular carcinoma).
• Prostate Cancer: Prostate cancer begins in the prostate gland in men and is typically slow-growing. It is one of the most common cancers in men, with symptoms that include difficulty urinating and blood in the urine.

Leukemias

Leukaemia is a cancer of the blood or bone marrow, characterized by an overproduction of abnormal white blood cells. These cancerous cells crowd out normal cells and impair the body’s ability to fight infections, clot blood, and carry oxygen.

Lymphomas

Lymphomas are cancers of the lymphatic system, which is a part of the immune system. Lymphomas start in lymphocytes, a type of white blood cell.

Treatment and Prevention of Cancers

Cancer treatment depends on the type, stage, and location of the cancer, as well as the overall health of the patient. Common treatment methods include:

1. Surgery: Removing tumours or cancerous tissue from the body.
2. Chemotherapy: Using drugs to kill cancer cells or stop their growth. This method can affect the entire body. Drugs or other substances that specifically target cancer cells with minimal effect on normal cells (Targeted Therapy).
3. Radiation Therapy: Using high-energy rays to target and destroy cancer cells.
4. Immunotherapy: Stimulating the body’s immune system to fight cancer.

Cardiovascular Diseases

Cardiovascular Diseases (CVDs) refer to a group of disorders that affect the heart and blood vessels. These included diseases such as stroke, heart attacks and coronary artery disease are the top cause of global deaths.

High Mortality Rate: Globally, 25% of deaths occur due to cardiovascular diseases, especially among younger patients. Premature loss of life due to NCDs in the age group of 30-69 years is also very high among Indians. 50% of deaths due to cardiovascular diseases occur in the age group of 40-69 years.

Types of Cardiovascular Ailments

Although most of the cardiovascular ailments occur over a period, some are even Congenital heart defects that are structural problems present since birth. These defects can range from mild to severe and may require surgery or other treatments.

Hypertension (High Blood Pressure)

Hypertension is a major risk factor for heart disease and stroke. It occurs when the force of blood against the walls of the arteries is consistently too high. High blood pressure can damage blood vessels over time, leading to heart attack, stroke, and kidney disease.

Hypertension is often called the “silent killer” because it usually has no symptoms until significant damage occurs.

Coronary Artery Disease (CAD)

Coronary artery disease is the most common type of heart disease. It occurs when the coronary arteries, which supply oxygen-rich blood to the heart muscle, become narrowed or blocked due to a build-up of plaque (atherosclerosis). This can lead to chest pain (angina), heart attacks, and heart failure.

Heart Attack

A heart attack happens when a coronary artery becomes completely blocked, depriving a part of the heart muscle of oxygen. This can result in the death of heart muscle tissue and permanent damage to the heart, a condition known as heart failure.

Heart Failure

Heart failure is a condition in which the heart is unable to pump blood effectively to meet the body’s needs. It can occur as a result of:

1. Weakened heart muscles (systolic heart failure) or a stiff heart muscle that cannot relax properly (diastolic heart failure). Symptoms include shortness of breath, fatigue, fluid retention, and swelling in the legs and abdomen.
2. Conditions like coronary artery disease or heart attacks.
3. Conditions like High blood pressure, diabetes and kidney disease over a long period can also cause heart failure.
4. Valvular Heart Disease: It occurs when one or more of the heart valves are damaged or diseased, affecting blood flow and increasing the risk of heart failure or arrhythmias. Conditions like mitral valve prolapse or aortic stenosis can impair the heart’s ability to pump blood effectively.

Stroke

A stroke occurs when the blood supply to the brain is interrupted, either due to a blockage (ischemic stroke) or rupture of a blood vessel (hemorrhagic stroke). This interruption leads to a loss of brain function and can result in paralysis, speech problems, or even death.

1. Ischemic Stroke: The most common type, occurring when a blood clot blocks a blood vessel supplying the brain.
2. Hemorrhagic Stroke: This happens when a blood vessel in the brain ruptures, causing bleeding.

Arrhythmias

Arrhythmias are abnormal heart rhythms, which can range from harmless to life-threatening. The heart may beat too fast (tachycardia), too slow (bradycardia), or irregularly (fibrillation).

• The most common type of arrhythmia is atrial fibrillation, where the heart’s upper chambers (atria) beat irregularly, increasing the risk of stroke and heart failure.
• Ventricular arrhythmias, which occur in the lower chambers of the heart, can lead to sudden cardiac arrest if left untreated.

Disease in Arteries

• Peripheral artery disease (PAD) occurs when the arteries that supply blood to the limbs, particularly the legs, become narrowed or blocked due to atherosclerosis. It can cause pain, numbness, and difficulty walking due to insufficient blood flow. PAD is a risk factor for heart attack and stroke.
• An aortic aneurysm is an abnormal bulge in the wall of the aorta, the large artery that carries blood from the heart to the rest of the body. Aneurysms can develop in any part of the aorta and may lead to rupture if they grow too large, causing life-threatening internal bleeding.

Risk Factors for Cardiovascular Diseases

Several factors increase the likelihood of developing cardiovascular diseases:

• Unhealthy diet: A diet high in saturated fats, trans fats, and cholesterol can lead to the build-up of plaque in the arteries.
• Physical inactivity: Lack of exercise contributes to obesity, high blood pressure, and elevated cholesterol, all of which are risk factors for CVD.
• Tobacco use: Smoking damages blood vessels and raises blood pressure, significantly increasing the risk of heart disease and stroke.
• Excessive alcohol consumption: Drinking too much alcohol can raise blood pressure and contribute to heart problems.
• Chronic conditions: Conditions like diabetes, high cholesterol, and high blood pressure are key risk factors for cardiovascular diseases.
• Family history and genetics: A family history of heart disease or stroke can increase the risk, suggesting a genetic component in many cardiovascular conditions.

Prevention and Treatment of Cardiovascular diseases

Preventing cardiovascular diseases involves managing risk factors through lifestyle changes such as:

• Healthy diet: Eating a balanced diet rich in fruits, vegetables, whole grains, and lean proteins.
• Regular exercise: Engaging in physical activity, like walking, running, or cycling, to strengthen the heart and improve circulation.
• Maintaining a healthy weight: Being overweight or obese increases the risk of cardiovascular diseases.
• Smoking cessation: Quitting smoking is one of the most effective ways to reduce the risk of heart disease.
• Limiting alcohol intake: Moderating alcohol consumption can help lower blood pressure and reduce cardiovascular risk.
• Managing stress: Reducing stress through techniques such as meditation, yoga, or deep breathing exercises can improve heart health.

Diabetes:

Diabetes is a group of metabolic diseases characterized by high blood sugar (glucose) levels, either due to the body’s inability to produce insulin or ineffective use of insulin. Insulin is a hormone produced by the pancreas that helps regulate blood sugar.

• Over the long-term high glucose levels are associated with damage to the body and failure of various organs and tissues.
• Diabetes is a major cause of blindness, kidney failure, heart attacks, stroke, and lower limb amputation.

Insulin

Insulin was discovered in 1921 and has been synthesised using the rDNA technology since the 1980s. However, it’s still only available in brand-name forms. Drug companies have made small changes to insulin over time to extend their patents.

There are two main types of diabetes:

Type 1 Diabetes:

• Definition: An autoimmune condition where the body’s immune system attacks and destroys insulin-producing beta cells in the pancreas, leading to little or no insulin production.
• Causes: The exact cause is unknown, but genetic factors and environmental triggers (like viral infections) are believed to play a role. It is commonly diagnosed in children and young adults.
• Treatment: Insulin therapy (daily insulin injections or an insulin pump) is required. Patients must also monitor blood sugar levels regularly and maintain a healthy diet and exercise routine. There is no cure for Type 1 diabetes.

Type 2 Diabetes:

• Definition: A condition where the body becomes resistant to insulin or doesn’t produce enough to maintain normal blood sugar levels.
• Causes: Primarily linked to lifestyle factors like poor diet, lack of exercise, obesity, and genetics. It typically develops in adulthood but is increasingly seen in children due to rising obesity rates.
• Gestational Diabetes: A temporary form of high blood sugar that occurs during pregnancy. Hormonal changes during pregnancy can make the body less responsive to insulin, leading to increased blood sugar.
• Treatment: Lifestyle changes, including a healthy diet and regular exercise. Oral medications like metformin are often prescribed to help regulate blood sugar. In some cases, insulin therapy may be required. Bariatric surgery may also be an option for obese patients. No cure, but it can be managed effectively with proper treatment.

Prevalence of Diabetes:

• International Diabetes Federation Diabetes Atlas(7th Edition): China had the largest number of patients(11.43 cr.) followed by India (7.29 Cr.) in 2017. [out of 42Cr in the world]
• Increased cases with time: The number of people with diabetes in India increased from 26·0 million in 1990 to 6.5 Cr in 2016.
• Younger population affected: The prevalence of diabetes in adults aged 20 years or older in India increased from 5·5% in 1990 to 7·7% in 2016.
• State-wise: The prevalence in 2016 was highest in Tamil Nadu & Kerala, according to the Global Burden of Disease Study, 2018. Higher levels of diabetes in the southern and eastern parts of India as being linked to diets of “rice-meat-and-fish” and a higher intake of “sweets and snacks” that were rich in trans-fats.
• Gender-wise: NFHS 2015-16: 5.8% of women and 8.0% of men in India have blood sugar levels above 140 mg/dl, in the age group of 15-49 years.
• WHO has begun an initiative to cut the prices & increase access to insulin access for diabetes.

Mental Health:

According to the WHO, Mental Health is a state of well-being in which an individual realizes his or her own abilities, can cope with the normal stresses of life, can work productively, and can contribute to his or her community.

• Thus, mental health refers to the ability of a person to perform better personally, professionally and socially.
• It is not just the absence of mental disorders or disabilities. Peak mental health is about not only avoiding active conditions but also looking after ongoing wellness and happiness.

Data about India: WHO also estimates that about 7.5% of Indians suffer from some mental disorder and predicts that by the end of 2020, roughly 20% of India will suffer from mental illnesses.

Symptoms of mental illness are:

• Loss of interest or pleasure in your activities
• Weight change: loss or gain
• Trouble getting to sleep or feeling sleepy during the day
• Feelings restless and agitated, or else very sluggish and slowed down physically or mentally
• Being tired and without energy
• Feeling worthless or guilty
• Trouble concentrating or making decisions
• Thoughts of suicide.

Stress: A response to an external cause, such as a deadline at work or an argument with a friend. Stressors can be one-time or short-term, or they can happen repeatedly over a long time.

Anxiety: A reaction to stress that can occur even if there’s no current threat. Anxiety is characterized by a persistent feeling of apprehension or dread in situations that are not actually threatening.

Anxiety usually comes on gradually, while panic attacks start suddenly and peak within minutes.

Vulnerable Groups:

Who will suffer from psychological distress, anxiety, depression, substance abuse, suicide and suicidal behaviour due to economic recession, insecure job situation, unemployment, and lower socio-economic status?

Reasons for rising Mental disorders:

• Livelihood issues: Job loss or fear of losing a job. Most of such patients happen to be male. They are usually the breadwinners and are impacted more by uncertainty over jobs and livelihood.
• Psychiatric illnesses: “Post-Traumatic Stress Disorder, Obsessive-Compulsive Disorder, anxiety and panic disorders, generalised anxiety disorder and mood disorders will be at the top of the list and the impact on mental health could be long-lasting.

Treatment

• Professional help: People should not hesitate to seek professional help if required. Delays in seeking professional help because of the stigma surrounding mental health will cause more issues.
• Electroconvulsive therapy (ECT) is a procedure, done under general anaesthesia, in which small electric currents are passed through the brain, intentionally triggering a brief seizure. ECT seems to cause changes in brain chemistry that can quickly reverse symptoms of certain mental health conditions.

Tele MANAS Cell

• Tele MANAS cell is an initiative facilitating tele-mental health services in India.
• It’s a digital extension of the District Mental Health Programme (DMHP).
• Operated jointly by the Ministries of Health and Family Welfare and Defence.
• Aims to provide comprehensive, integrated, and inclusive mental health support.
• Offers 24/7 services accessible via a toll-free number, 14416, in every State and Union Territory.

Rare Disease:

A rare disease is a health condition of low prevalence, affecting a small number of people, as compared to other prevalent diseases in the general population.

1. There is no universal or standard definition of rare disease. A disease that occurs infrequently is generally considered a rare disease.
2. It has been defined by different countries in terms of prevalence – either in absolute terms or in terms of prevalence per 10,000 population.
3. A country defines a rare disease most appropriate in the context of its own population, health care system and resources.

WHO’s definition of Rare Diseases

Rare diseases are those diseases that are often debilitating lifelong diseases or disorder conditions with a prevalence of less than 1 per 1000 persons. However, different countries have their own definitions. Despite being less prevalent and individually rare, collectively they affect between 6% and 8% of the total population in any country.

• 80% of all rare disease patients are affected by approximately 350 rare diseases.
• Types: They include genetic diseases, rare cancers, infectious tropical diseases and degenerative diseases. 80% of rare diseases are genetic in origin and hence disproportionately impact children. For Example, Haemophilia, Thalassemia, Sickle-cell anaemia, auto-immune disease, etc are common in India.

Situation In India:

• About 95% of rare diseases have no approved treatment.
• Less than one in 10 patients receives disease-specific treatment.
• Very few pharmaceutical companies manufacture drugs to treat rare diseases and India has no domestic manufacturer.

Problems Faced:

• Lack of epidemiological data
• Varying definitions and prevalence thresholds(1/1000 or 5/10000 etc)
• Diagnosis of rare diseases: Diagnosis of a rare condition may take up to several years, owing to difficulty in diagnostic modalities and lack of awareness among doctors.
• R&D difficult: Rare Diseases are difficult to research as the patient pool is very small and it often results in inadequate clinical experience.
• Unavailability and High Cost of Treatment: These are known as Orphan Diseases as the market for their drug development is not economically viable.
• Balancing competing priorities of public health: Policy generally prioritizes diseases that impact a larger proportion of the population.

Fact File

Lysosomal Storage Diseases: a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function. [Lysosome: Waste disposal System/Suicide bag] Acute Flaccid Myelitis (AFM): Polio-like condition; but not Polio; It is a neurological illness that leads to paralysis  of the limb, inflation in the spine Thalassemia are inherited blood disorder characterized by abnormal haemoglobin production.

National Policy on Thalassemia:  MoH&FW has prepared and issued comprehensive guidelines for Haemoglobinopathies (Thalassemia, Sickle cell anaemia and other variant anaemia) for the prevention and management of Haemoglobinopathies. The guidelines provide for: Screening of every pregnant woman during ANC, Pre-marital counselling at the college level and Onetime screening for variant anaemia for all children in class VIII. §  There is no proposal to make carrier testing compulsory for relatives of thalassemia patients as it should be voluntary and not cause stigmatisation of the family.

Orphan drug:

Developed specifically to treat a rare medical condition, referred to as an orphan disease.

• Orphan Status helps in getting financial incentives.
• The assignment of orphan statusto a disease and to any drugs developed to treat it is a matter of public policy in many countries and has resulted in medical breakthroughs that may not have otherwise been achieved due to the economics of drug research and development.
• In the US and the EU, it is easier to gain marketing approval for an orphan drug, and there may be other financial incentives, such as an extended period of exclusivity, a time during which that company is the only one allowed to market the orphan drug—all intended to encourage the development of those drugs which might otherwise lack a sufficient profit motive and market to attract companies’ research budgets and personnel.

The National Policy for Rare Diseases, 2021:

The document specifies increasing the government support for treating patients with a ‘rare disease’ from ₹15 lakh to ₹20 lakh. It divides diseases into three groups:

1. Group 1: Disorders amenable to one-time curative treatment:
2. Group 2: Diseases requiring long-term/lifelong treatment having relatively lower costs of treatment and benefits have been documented in the literature and annual or more frequent surveillance is required.
3. Group 3: Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit, very high cost and lifelong therapy.

Problem: 

1. GROUP 3 PATIENTS: The new policy has absolutely no consideration for Group 3 patients, who require lifelong treatment support
2. It offers no support to patients awaiting treatment since the earlier National Policy for Treatment of Rare Diseases 2017 was kept in abeyance.
3. Looking at the number of rare disease patients diagnosed and considered eligible for treatment by the respective State technical committees, the immediate requirement of funds to support the immediate treatment needs of the diagnosed patients shouldn’t exceed ₹80 crore to ₹100 crore annually. The Centre’s contribution would work out to ₹40 to ₹50 crore if it is able to convince the StateS for a load-sharing model,

• Examples: A few States like Kerala, Tamil Nadu and Karnataka have already indicated

Challenges:

1. Research and development: A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases
2. Unavailability of treatment: Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases. Despite progress in recent years, effective or safe treatment is not available for most of the rare diseases. Hence, even when a correct diagnosis is made, there may not be an available therapy to treat the rare disease.

UMMID (Unique Methods of Management and Treatment of Inherited Disorders):

• Recently launched by the Department of Biotechnology (DBT).
• Aim: to create awareness about genetic disorders amongst clinicians and establish molecular diagnostics in hospitals so that the benefits of developments in medical genetics could reach patients.
• Three components of the UMMID initiative:
  • To establish NIDAN Kendras (National Inherited Diseases Administration). These are Diagnostic centres to provide counselling, prenatal testing and diagnosis, management, and multidisciplinary care in Government Hospitals.
  • To produce skilled clinicians in Human Genetics, and
  • To undertake screening of pregnant women and newborn babies for inherited genetic diseases in hospitals at aspirational districts.

Draft National Policy for Rare Diseases: M/o Health and Family Welfare

• It lists 450 diseases as rare but does not provide a detailed roadmap for treatment.
• It creates three categories of rare diseases-
  1. diseases requiring one-time curative treatment,
  2. diseases that need long-term treatment, but cost is low,
  3. diseases that require life-long treatment and the cost is high.
• Short Term Measures:
  • The National Registry for Rare Diseases will be created at ICMR
  • Definition Problem: ICMR will help to arrive at a definition of rare diseases, best suited to India.
  • Financial support for treatment:
    • For BPL(Below Poverty Line) under existing Rashtriya Arogya Nidhi.
    • It will also fund one-time treatment costs to the tune of ₹15 lakh for certain treatable rare diseases, for patients under its health insurance scheme, Ayushman Bharat/ Pradhan Mantri Jan Arogya Yojana, which covers 40% of the population.
    • Limitations:
      • There is no clarity of Centre and State responsibilities on patients not covered in the above schemes.
      • Not even half of the population is covered.
    • Awareness generation: developing materials for generating awareness in the general public, patients and their families and for training of health care providers.
  • Long-Term Measures:
    • Diagnostics & Reporting:
      • Put systems in place for reporting and data collection.
      • Explore formulating a plan for piloting, and rolling out testing for rare genetic diseases in new-borns.
      • Standardized Protocol Development: Develop standardized protocols for diagnosis and treatment/management of rare diseases, to be revised in conformity with the evolving diagnosis and treatment landscape.
      • Strengthen laboratory networks for diagnosis of rare diseases.
      • Accredit centres for diagnosis and treatment of rare diseases could be developed as Centres of Excellence (CoE) over some time, in a phased manner.
    • Studies & Research:
      • Conduct epidemiological studies to estimate the prevalence of rare diseases.
      • Take measures to improve R&D for treatment, diagnostic modalities, care and support including assistive devices, drug development for rare diseases etc.
    • Legal & Other Measures to Enhance Access to Treatment:
      • For encouraging local manufacturing of drugs for rare diseases.
      • To control the prices of Orphan rugs to ensure their affordability and sustainability.
      • Drug Controller General of India (DCGI) to consider the feasibility of amending the Drugs and Cosmetics Act or otherwise taking measures under it, to include appropriate provisions on drugs for rare diseases, including provisions to facilitate clinical trials and import of ERTs.
    • Sustainable Funding Measures:
      • Encourage funding support from PSUs and the corporate sector and explore other options for sustainable funding for the corpus.
      • Ensure insurance coverage for rare genetic disorders.
      • Allow imports of Enzyme Replacement Therapies (ERTs) and remove import duty on them as well as on assistive devices.
    • Preventive Measure: Explore the feasibility of a plan for providing and progressively scaling up pre-conception and antenatal genetic counselling and screening in a targeted manner, or otherwise, to provide the option to parents to prevent conception or birth of a child with rare genetic diseases.
  • Institutional framework:
    • The government plans to notify certain medical institutes as Centers of Excellence for Rare Diseases.
    • At the National Level: Inter-ministerial Consultative Committee to coordinate and oversee activities.
    • Rare Diseases Cell within MoHFW, ICMR and DoP in the M/o Chemicals and Fertilizers.
  • Funding framework:
    • Creating a National and State Level Corpus: GOI to set up a corpus fund with an initial amount of Rs. 100 crore towards funding the treatment of rare genetic diseases, which can further be scaled up.
      • GOI will contribute funds towards the State corpus to the ratio of 60:40.
      • Web-based application for the online application process to access the corpus funds.
    • It recommends crowdfunding as a source to fund the treatment of rare diseases and advises hospitals to report such cases on digital platforms to gather funds.
  • It follows a multi-sectoral convergent approach to tackling rare diseases, which involves all levels of government and multiple ministries.

Solutions for tackling NCDs

Lifestyle Changes

• Including Tobacco: India’s response plan to address the growing burden of NCDs must include tobacco cessation activities as tobacco consumption has been indisputably linked to hypertension, cardiovascular diseases and stroke.
• A multidisciplinary approach: Strategies must include mitigation efforts to address administration challenges, a strong health workforce, infrastructure, supplies, maintaining the standard of care, and continued access and care for vulnerable populations.
• The importance of physical activity and mental health due to restrictions on movement should be brought to the forefront. Multiple risk factors that are interrelated, such as raised blood pressure, glucose, lipids, and obesity, are preventable.
• Innovative Campaigns on maintaining a healthy lifestyle: the monotony of broadcasting the same message over and over again must be broken. Effective and participatory leadership with strong vision and communication is the need of the hour to tackle the silent epidemic transition to NCDs.

Policy changes

• Use of Telemedicine: The use of alternative modalities such as online platforms for disseminating information on exercise and mental health management must be made available to the marginalised. Telemedicine can reduce travel expenses, thus lowering patients’ expenditure burden.
• Digital Collection of Data: for patients who have an NCD.
• Giving Equal Weightage to NCDs: There is an urgent need for national and State health policymakers to draw up a road map that gives equal weight to patients living with NCDs.
• Utilising the existing network of NGOs while respecting local factors will go a long way in tackling the growing burden of NCDs.
• Screening for NCDs at the grassroots level and the delivery of locally relevant and contextual messages for health promotion and primordial prevention of NCDs can be significantly improved by incentivising the already overburdened ASHA workers.
• Access to essential NCD medicines and basic health technologies in all primary healthcare facilities is essential to ensure that those in need receive treatment and counselling.

Conclusion: Primary healthcare systems must ensure that persons at risk of NCDs receive appropriate screening, counselling and treatment. In India, those with NCDs find that productive years of life are lost and there is high-out-of-pocket expenditure on treatment. Urgent action is needed using the ‘all of society approach’ to achieve the WHO goal of a 25% relative reduction in overall mortality from cardiovascular diseases, cancer, diabetes, or chronic respiratory diseases by 2025.
This can be achieved by strengthening the primary health system to prevent, diagnose and provide care for NCDs in the future, especially during health emergencies such as a pandemic.

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