#RareDiseaseDay 2015: Rare diseases are rare but rare disease patients are numerous

Rare disease is any disease that affects a small population. Majority of rare diseases are genetic and present in early childhood. The definition of rare disease is different in different geographies. An incidence of less than 1 in 2000 in Europe and affection fewer than 200,000 at any given time in USA is considered as a rare disease. The importance of rare disease is in the fact that the actual number of patients affected by rare disease are large and the poor diagnostic and therapeutic measures makes the battle difficult to win. The #RareDiseaseDay is an initiative by some organisations to increase the awareness and spread the word about this not so rare condition.

Some facts about rare diseases:

1. Till now there are about 6000-7000 and rare diseases and new diseases are constantly being added to the  medical literature
2. Nearly all genetic diseases are rare diseases, but not all rare diseases are genetic diseases
3. Some rare  infectious diseases, such as auto-immune diseases and rare cancers also come under this group
4. Rare diseases are serious, often chronic and progressive, diseases.
5. Some rare diseases may present at birth or in childhood
1. Proximal spinal muscular atrophy
2. Neurofibromatosis
3. Osteogenesis imperfect
4. Chondrodysplasia
5. Rett syndrone
6. About  50% of rare diseases appear during adulthood
1. Huntington diseases
2. Crohn disease
3. Charcot-Marie-Tooth disease
4. Amyotrophic lateral sclerosis
5. Kaposi's sarcoma
6. Thyroid cancer.

Medical and social consequences of rare diseases

1.       No cure for many of the rare diseases
2.       An appropriate treatment and medical care for the rare diseases with treatment available can improve the quality of life of those affected and extend their life expectancy
3.  3.     Difficulties faced by rare disease patients: diagnostic measures, relevant information and proper direction towards qualified professionals
4.  4.    The patients are also more psychologically, socially, economically and culturally vulnerable
5.  5.     Biggest challenge is due to the lack of sufficient scientific and medical knowledge, majority of patients are not diagnosed and their disease remains unidentified

Way forward

1.  1.       Extend diagnostic  reach
2.  2.       Improve knowledge of the natural history by the creation of registries
3.  3.       Enhance research and development
4.  4.       Implement patient friendly health policy which should target on making screening, diagnosis and treatment available to the general population

Read more at

http://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN

http://www.rarediseaseday.org/article/what-is-a-rare-disease

#MalariaResistance #K13MolecularMarker #GlobalMalariaProgramme #ArtemesininResistance

A recent study published in The Lancet infectious diseases, has recorded high prevalence of P falciparum parasites carrying K13-propeller mutations next to the northwestern border of Myanmar with India. The study was a cross-sectional survey between Jan 2013-Sep 2014 at 55 malaria treatment centres in Myanmar, and in relevant border regions in Thailand and Bangladesh.

The main results observed are:

•            39% of samples with K13-propeller mutation
•           70% of the ten administrative regions of Myanmar, the combined K13-mutation prevalence was more than 20%
•           Geospatial mapping showed an overall prevalence of K13 mutations exceeding 10% in much of the east and north of the country
•           In Homalin, Sagaing Region, 25 km from the Indian border, 21 (47%) of 45 parasite samples carried K13-propeller mutations.
•           Artemisinin resistance extends across much of Myanmar.

Some of the factors leading to the development of artemisinin resistance are:

·        Uncontrolled use of artemisinin-based combination therapy (ACT)

·        Mobile populations and migrants

·        Artemisinin monotherapy

·        Use of subtherapeutic levels of artesiminin

·        Substandard and counterfeit drugs

·        High treatment cost, and

·        Co-use of artemisinin derivates as prophylactic agents

Way forward

According to the #GlobalMalariaProgramme by WHO the continued use of oral artemisinin-based monotherapy (oAMT) is one of the main contributing factors for the development and spread of artemisinin resistance. The way forward is to protect the therapeutic life of artemisinin-based combination therapy (ACT).

In view of the rapidly spreading artemisinin resistance, the countries specially affected will be malaria-endemic countries. This will also threaten the progress achieved in malaria control by many countries.  

Read more at

http://www.thelancet.com/journals/laninf/article/PIIS1473-3099(15)70032-0/abstract

http://www.who.int/malaria/publications/atoz/oral-artemisinin-based-monotherapies-1may2014.pdf

#WorldCancerDay 2015: Yesterday, today and tomorrow

World cancer day was originated in 2000 at the first World Summit Against Cancer in Paris. It was an initiative of the Union for International Cancer Control supporting the goals of the 2008 World Cancer Declaration. The significance of the day is to create awareness and involve the government leaders and policy makers to reduce the global cancer burden. This can only be achieved by an integrated approach where every single individual contributes.

Turacoz Healthcare Solutions as a medical communication company is joining the fight against cancer by launching an online portal exclusively for creating awareness, bringing the latest in healthcare in terms of diagnosis, management, quality of life and rehabilitation.

The theme for 2015 is "Not Beyond Us" with a main goal to reduce cancer related illness and deaths by 2020. It calls for a positive approach towards the problem with the best utilization of available resources and solutions.

The four key areas of focus this year are:

1. Choosing healthy lifestyles

2. Delivering early detection

3. Achieving treatment for all

4. Maximizing quality of all

The journey towards a cancer free world is long and enduring. The participation of every individual, community, healthcare professionals, pharmaceuticals, biotech companies and policy makers in their own capacities can achieve the goals and targets of World Cancer Day.

#ReachEveryChild: Vaccines work and can change the healthcare equation

Starting from Edward Jenner’s small pox vaccine in 1796 to the latest vaccines on rotavirus and shingles, vaccination has come a long way. Be it the triumph of small pox eradication in 1980 to the recent polio eradication, continuous dedicated directional healthcare efforts have been pivotal in these health treats. Every child born has a right to be vaccinated against the preventable infectious diseases to attain the optimal health status. For vaccination to eradicate a given infection almost 90% of the population should be vaccinated.

How to improve vaccination coverage?

1. Increase community demand for vaccination
   1. Client reminder/recall: target the children at birth and regular follow up with providing education on the importance of vaccination
   2. Compulsory vaccination schedule to be produced at the time of admission in schools, colleges and offices targeting all age groups
   3. Increase awareness at community level by regular articles and write-ups in newspapers and social media
2. Enhance access to vaccination services
   1. Make the vaccines affordable
   2. Expand the access of health care by reaching out more and more population: conducting camps in villages, towns, school, market places etc
   3. Encourage home visits for healthcare and vaccinating professionals to target individuals who cannot reach the clinics and hospitals: elderly, children and women
3. Interventions at the level of the provider
   1. Provider reminder/recall
   2. Collect feedback from the providers which can target difficulties and problems encountered
   3. Educate the provider with the importance of vaccination and its role in the cost effectiveness and improved health outcomes

#ReachEveryChild is an endeavor of Gavi.org with a global presence. The estimated birth cohort of 2014 for India was 25,519,497 with an under-five child mortality rate of 53 per 1000 live births. About 70% of childhood deaths are due to due to conditions that are preventable or treatable with affordable interventions.

Advantages of vaccination are multifold

1. Disease control benefits
   1. Eradication of disease
   2. Elimination of disease
   3. Control of mortality, morbidity and complications
2. Reduced severity of disease in vaccinated individuals
3. Protects unvaccinated population due to herd immunity
4. Prevents related diseases and cancer like liver cancer due to hepatitis B infection, acute otitis media prevention by HIB vaccination etc
5. Benefits to the society:
   1. Healthcare savings
   2. Prevents development of antibiotics resistance by reducing the usage of antibiotics
   3. Extends life expectancy
   4. Safe travel to endemic regions
   5. Empowerment of women by improving the health status of children and women
   6. Protect against bioterrorism

So to conclude vaccination is beneficial way beyond the prevention of specific diseases and makes very good economic sense.

Reduction of global child mortality by vaccination is a moral obligation for the international community as it is a human right for every individual to have the opportunity to live a healthier and fuller life. We cannot achieve the Millennium Development Goal 4 (two-thirds reduction in 1990 under-5 child mortality by 2015) without this basic health care intervention.

Read more at:http://www.gavi.org/, http://www.who.int/bulletin/volumes/86/2/07-040089/en/

Spread a Word: Protect yourselves from Cervical Cancer

January is Cervical Health Awareness Month which is chance to raise awareness about how women can protect themselves from HPV (human papillomavirus) and cervical cancer. Cervical cancer is the most common cancer and also the leading cause of cancer mortality in women, both in India and abroad. It occurs in the lower part of the uterus, which is called as cervix. Overgrowth of abnormal cells in the cervix leads to cervical cancer. It is caused by a virus known as Human Papilloma Virus (HPV). Not all HPV infections cause cervical cancer, some cause genital warts while some others show no symptoms at all. Most HPV infections resolve on their own, but sometimes they cause genital warts or lead to cervical cancer.

How do you know you can have Cervical Cancer-

• Abnormal bleeding from vagina between menstrual periods or after sexual intercourse or after menopause
• Pain during sexual intercourse
• Abnormal vaginal discharge
• Pain in pelvis/lower belly.

Chance increase if you are

• Into an early marriage
• a smoker
• Using hormonal contraceptives
• Having high number of pregnancies

 

Cervical cancer screening tests-

• Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient’s health habits and past illnesses and treatments will also be taken.
• Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum.
• Pap test: A procedure to collect cells from the surface of the cervix and vagina. A piece of cotton, a brush, or a small wooden stick is used to gently scrape cells from the cervix and vagina. The cells are viewed under a microscope to find out if they are abnormal.
• Human papillomavirus (HPV) test : A laboratory test used to check DNA or RNA for certain types of HPV infection. Cells are collected from the cervix and DNA or RNA from the cells is checked to find out if an infection is caused by a type of HPV that is linked to cervical cancer. This test may be done using the sample of cells removed during a Pap test. This test may also be done if the results of a Pap test show certain abnormal cervical cells.
• Endocervical curettage : A procedure to collect cells or tissue from the cervical canal using a curette (spoon-shaped instrument). Tissue samples may be taken and checked under a microscope for signs of cancer. This procedure is sometimes done at the same time as a colposcopy.
• Colposcopy : A procedure in which a colposcope (a lighted, magnifying instrument) is used to check the vagina and cervix for abnormal areas. Tissue samples may be taken using a curette (spoon-shaped instrument) and checked under a microscope for signs of disease.
• Biopsy : If abnormal cells are found in a Pap test, the doctor may do a biopsy. A sample of tissue is cut from the cervix and viewed under a microscope by a pathologist to check for signs of cancer. A biopsy that removes only a small amount of tissue is usually done in the doctor’s office. A woman may need to go to a hospital for a cervical cone biopsy (removal of a larger, cone-shaped sample of cervical tissue).

If you fall under 21-30 yrs age group, you should have PAP tests once in every 3 years

• If you fall under 30-65 yrs age group, you should have a combination of HPV and PAP test once in every 5 years
• If you are above 65 yrs, you do not need any PAP tests if you had 2 HPV+ PAP tests with normal results in a row

Screening tests are highly recommended for women who-

• Are above 35 years of age
• Have HPV infection
• Are married for more than 8 years
• Have an abnormal PAP smear

Cervical Cancer Treatment-

Treatment of cervical cancer varies according to the stage the individual is in. The affected person may need to undergo one or more treatments or a combination of the following treatments.

• Surgery- This involves surgical removal of uterus (hysterectomy) and removal of pelvic lymph nodes with or without removing ovaries and fallopian tubes. This can be avoided if cancer is found early.
• Chemotherapy - This involves using medications to kill cancerous cells. It is used to treat advanced stages of cervix cancer.
• Radiation therapy - This involves exposure to high dose X-rays or implants in vaginal cavity to kill cancerous cells. It is mostly used in combination with surgery.
• Chemoradiation - This involves the use of both chemotherapy and radiation to treat both early as well aslate stages of cervical cancer.

It is very important for women to get themselves checked regularly for the presence of cervical cancer. Getting tested in the above recommended time intervals can help to detect the disease at an early stage and thereby prevent cervical cancer. HPV vaccination is also highly recommended to avoid HPV infections, which can cause cervical cancer. Lets pledge on this Cervical Awareness month to increase public understanding of the disease, including its prevalence, approaches to screening and prevention, treatment options, and resources that offer updated cervical cancer information throughout the year.

Turacoz's Insight: Influenza vaccination Week, 7-13 Dec 2014

Influenza Vaccination Week was from December 7-­13, 2014, with a primary aim to remind everyone that 6 months and older should be vaccinated with the flu vaccine. National Influenza Vaccination Week (NIVW) was established in 2005 by the Centers for Disease Control and Prevention (CDC) to draw attention to the importance of continuing influenza vaccination after the holiday season into January and beyond.

The influenza is an infectious respiratory illness which can cause mild to severe illness, and at times lead to death.  According to recent estimates influenza attacks 5-10% of adults and 20-30% of children globally, thus leading to considerable levels of illness, hospitalization and deaths. Children <5 years of age, and particularly those <2 years of age, have a high burden of influenza. In India, influenza virus has been reported to cause 1.5% to 14.5% of all acute respiratory infections (ARIs) episodes. The two major mechanisms by which these viruses undergo rapid changes in their genetic constituents are “antigenic drift and antigenic shift” and are a challenge in the field of vaccination.

Globally, trivalent inactivated vaccines (TIV) and live attenuated influenza vaccines (LAIV) are the most common vaccines available for influenza whereas in India, LAIV is not available and a monovalent vaccine containing single pandemic strain, A (H1N1) pdm09 is available. Current trivalent influenza vaccines are not approved for children <6 months of age. Children (previously immunized with seasonal influenza vaccine) and adults should receive one dose of influenza vaccine each year. Children 6 months to < 9 years of age receiving seasonal influenza vaccine for the first time should be given two doses, with a minimum interval of four weeks between doses. For intramuscular (IM) TIV, the dose is 0.5 ml for all age groups.⁴

The "Influenza Vaccination Week" focused on the following activities:

• Increase awareness by interactive programs and blogs to get vaccinated in December, January and beyond for better protection.
• Remind parents and providers of the need for high risk children receive a second dose of flu vaccine for optimal protection.
• Provide an opportunity for interaction with people ask questions about the flu and flu vaccination.
• Provide an update on local influenza activities.
• CDC launched a Google keyword search and display to raise awareness that everyone 6 months of age and older should get vaccinated.

Recommendations of Advisory Committee on Immunization Practices (ACIP) for influenza vaccination 2014-2015

• The flu shots are recommended for children as ≥6 months of age and in pregnant women and people with chronic health conditions and for children < 6 months are not recommended for a flu shot. Factors like an egg allergy and presence or clinical history of Guillain-Barré Syndrome (GBS) require a consultation from doctor before getting a flu shot. 
• The nasal spray vaccine is approved for people 2 -49 years of age. Asthmatic patients, patients with chronic condition like lung disease, heart disease, kidney or liver disorders, neurologic/neuromuscular, or metabolic disorders and the presence or clinical history of Guillain-Barré Syndrome (GBS) require a consultation from doctor before getting a nasal spray.

Read more at:

Key Facts about Influenza (Flu) & Flu Vaccine. www.cdc.gov/flu/keyfacts.htm (Accessed on December12, 2014).

WHO. Vaccines against influenza. WHO position paper – November 2012 Weekly Epidemiol Record 2012.87(47):461–76. 

Medical Device Price Control in India

With the growing middle class and increasing world class healthcare facilities, India has emerged as one of the largest medical device markets in Asia and is rallying ahead in this field with striking rate. The medical device market in India is expected to grow with a rate 15% per year for the coming years. Selling of medical devices in India requires compliance with Indian Medical Device regulations. Foreign companies cover 70% of the medical device market in India.

For the first time after 2005, medical devices have been regulated under Drugs and Cosmetics Rule in India, which is under the control of Central Drugs Standard Control Organization (CDSCO) headed by Drug Controller General of India (DCGI). The manufacturers of medical devices either from India or from International market require their prior market authorization in US, Canada, Europe, Australia, Japan or any other international market as well as proof of approval in their home market, in order to register the device in India.

National Pharmaceutical Pricing Authority (NPPA) of India controls the prices of drugs and other products in India. The essential drugs are regulated under a Drug Price Control Order (DPCO) in India, to make them affordable to poor patients. In recent past, the Maharashtra Food and Drugs Administration (FDA) has recommended to the DCGI and NPPA to bring the medical devices in India under DPCO. This recommendation came in the wake of some studies conducted by the Maharashtra FDA in which it was found that manufacturers in collusion with importers, distributors and hospitals which ultimately provide the devices to the patients and fixes maximum retails price (MRP) of medical devices randomly which is finally passed on to credulous patients. Specially, in the case of drug eluting stents (DES), MRP was found to be exorbitantly high and patients have no option but buy it without any bargain. MRP of the devices are fixed in India by the importers and not the manufacturers. There is one more startling fact associated with the costing that, the cost of devices is recovered immediately from patients (sometimes even before implantation in patients), but the payment to distributors are made after a period of 60-120 days, and applicable taxes to the state government are made only within 51 days by the distributors.

In one case of overpricing it was found that a DES imported in India at around Rs. 31,000 has an MRP of Rs. 1,62,000, it was sold to distributor for Rs. 67,000 and in turn the DES is provided to hospital at a price of Rs. 1,06,650 by the distributor which was in turn sold to patients.

In yet another case of profit making practice by the importer, A DES imported from Europe for Rs. 40,710  has an MRP of Rs. 1,50,000, a mark-up of more than 250%, was sold to a distributor at Rs. 73,440 and in turn sold to the hospital at Rs. 1,13, 400 and the patient paid a price of Rs. 1,19,070.

These devices are generally not available freely in the market and patients get the supply from hospitals at their quoted price through distributor and are forced to pay double or triple the price at which it has been imported. It has also been reported that distributor bribe doctors and hospitals from the extra money through selling at higher prices.

NPPA has taken steps recently in response to the recommendation from Maharashtra FDA about the price violation of these devices; especially FDA demanded a price cap on DES and orthopaedic implants. It is recommended that most effective way to regulate the price of these devices is to bring them in National List of Essential Medicines (NLEM), which can bring relief to millions of patients. In India two medical devices – intra uterine device and condoms are already covered under NLEM and their prices are under control.

Role of NPPA in this regard can be effective in this scenario to bring relief to the common middle class population of this country.

References:

http://www.pharmabiz.com/NewsDetails.aspx?aid=83063&sid=1

http://epaperbeta.timesofindia.com/Article.aspx?eid=31808&articlexml=RevealmedicaldeviceMRPcompaniestold10122014017011#