Diagnosis And Treatment Of Rare Diseases: A Global Problem Of "Market Failure"

"Not to the mayor, to the market." This sentence has been pursued by countless people of the classic, at present in the face of rare diseases appear some pale.

"At present, most patients with rare diseases are still without drugs, and this problem is the market failure. How to break the market failure, enable enterprises to produce, develop and provide drugs for a small number of patients, and make these enterprises profitable and maintain sustainable development is a unique challenge in the field of rare diseases." Jin enlin, general manager and head of strategy and investment of Jingdong health and pharmaceutical department, said on the eve of international rare disease day on February 28.

For this challenge, Wang yiou, Secretary General of the Beijing pain challenge foundation, who is also a rare patient, shares his feelings. Wang yiou said that they have been trying to help more patients with rare diseases through the foundation, but their strength is still limited. However, in recent years, they are also exploring the "multi-party co payment" mode, allowing more forces to participate, so as to enrich the "diversification" of the system, subject, financing, payment and other modes. Through three years of practice, it has also proved the feasibility of this method.

Through medical insurance, rare disease medical assistance project and other charitable organizations, the medical burden of patients has been greatly reduced. For example, the medical burden of patients with Gaucher's disease and Fabry's disease decreased from 502% and 122% of family income to 14% and 7%, avoiding catastrophic medical expenditure.

A large number of patients with rare diseases need professional and timely diagnosis and treatment, but clinicians with rare disease diagnosis technology and ability are relatively concentrated in the tertiary hospitals in Beijing, Shanghai, Guangzhou, Shenzhen and some provincial capitals. Photo by Gan Jun

"Born extraordinary"

Wang yiou, who suffers from osteogenesis imperfecta, has an incidence rate of about one in ten thousand. A girl as high as a six or seven year old girl has obtained a double degree in law and management. He is the founder of the care center for rare diseases of porcelain dolls and the Secretary General of Beijing pain challenge public welfare foundation.

Wang yiou also set up a rare disease band named "8772". She said that because she likes music and because music can bring happiness, she can see her singing and playing with passion in many public occasions, full of love for life.

"Our greatest wish is that every patient with a rare disease can have the opportunity to live as an ordinary person according to his or her true wish." Wang yiou said.

From childhood to adulthood, Wang yiou has been fractured six times. As he grows up, his bone gradually becomes normal. In addition to his small size, his life-long medication and treatment, his mobility is no different from that of ordinary people. Wang said she was lucky because her illness was not life-threatening.

Since 2008, Wang yiou began to help the same osteogenesis imperfecta group as himself. In 2014, he joined hands with sina Weibo to let the "ice bucket challenge" land in China, and experience the survival state of ALS gradually frozen people. Since then, more and more patients with rare diseases gathered around Wang yiou, and they established the pain challenge foundation.

In February 2018, the pain Challenge Foundation launched the medical assistance project for rare diseases, becoming the first medical assistance public welfare project covering all kinds of rare diseases in China (after May 2018, the first batch of rare diseases list shall prevail). In the past three years, the medical assistance project for rare diseases has provided medical information consultation services for nearly 4000 patients, directly assisted 901 patients, and accumulated fund-raising And donated more than 12 million yuan.

Wang yiou also found many patients in need of help. In the process, they did help some patients. However, Wang yiou told the 21st century economic reporter that the strength of public welfare foundation is far from enough.

Both Jennie and her younger brother suffer from spinal muscular atrophy (SMA), a neuromuscular disease that is more common in infancy and can lead to severe disability in children. At present, the only approved treatment drug in China is expensive. After the price reduction in January this year, it still needs 550000 yuan per year on average, which requires lifelong medication.

There is no special medicine, the family can only watch the child's muscle atrophy day by day. From being unable to walk, deformed spine to pulmonary infection and bedridden, Jeanie was left with only her right thumb moving and had to undergo tracheotomy. She had to rely on the ventilator all the time. Over the years, the family has been heavily in debt for treating the two brothers and sisters.

It is obviously difficult to support the medical aid project for rare diseases alone. For groups like this, this public welfare project often helps to improve the quality of life of patients through reimbursement of expenses such as auxiliary equipment. For these families with rare diseases who persist in loneliness, the significance of the project may be to give them a warm hope.

"Out of order" market

According to the white paper on global scientific and technological innovation of rare diseases jointly released by plug and play China and Beijing pain challenge public welfare foundation, patients with rare diseases are facing difficulties in diagnosis, medication and security.

A large number of patients with rare diseases need professional and timely diagnosis and treatment. However, clinicians with rare disease diagnosis technology and ability are relatively concentrated in tertiary hospitals in Beijing, Shanghai, Guangzhou, Shenzhen and some provincial capital cities. Many clinicians in third and fourth tier cities, due to lack of relevant professional knowledge and clinical experience, limited technical facilities and other factors, make it difficult for doctors to independently diagnose rare diseases It's a lot.

Many doctors have little or no definite diagnosis of any rare disease in their professional experience. When doctors can not diagnose, patients can not get the right treatment. The high incidence of misdiagnosis and missed diagnosis often makes patients miss the best treatment opportunity, which seriously affects the quality of life of patients. For example, before 2006, it took an average of nine years for patients with neuromyelitis optica spectrum disease (nmosd) to be diagnosed.

In addition, because patients with rare diseases come from all over the country, and high-quality medical resources are concentrated in the first tier cities, remote medical treatment, remote diagnosis and follow-up visit will increase a lot of transportation, accommodation, work lost and other costs. Statistical data show that the average annual travel expenses and work lost expenses of patients with rare diseases for medical treatment are 17000 yuan.

According to the data cited in the report on multi party co payment practice of 2020 rare disease medical assistance project released by the Beijing pain challenge public welfare foundation, only 5% of rare diseases have effective treatment methods globally.

As of October 1, 2020, based on the 121 rare diseases listed in the first batch of rare diseases as the statistical basis, there are 74 rare diseases that can be treated in the world, while in China, 66 therapeutic drugs have been listed, involving 35 rare disease indications. The other 47 rare diseases on the list face "global drug-free".

Even if there are rare diseases, the price of drugs is very expensive, which is difficult for the general patients to afford. For example, the spinal muscular atrophy (SMA) treatment drug nosinasheng sodium injection, which was approved for marketing in China in 2019, costs about US $750000 a year in Europe and the United States. In China, the average annual cost of treatment is still 1.05 million yuan after taking the drug donation policy into account.

Jin enlin, general manager and head of strategy and investment of Jingdong health and medicine department, compared rare diseases to "the top of the pyramid" because it is a global problem.

"Rare diseases are first and foremost medical problems, but they are also economic problems. For example, at present, most patients with rare diseases are still without drugs, and this problem is the market failure. How to break the market failure, enable enterprises to produce, develop and provide drugs for a small number of patients, and make these enterprises profit and maintain sustainable development is a unique challenge in the field of rare diseases. " Kim pointed out.

"Multi party co payment" mode

In fact, the above-mentioned problems involve drug use, payment, accessibility and so on. Liu junshuai, vice president of Beijing Society for diagnosis and treatment of rare diseases, pointed out that the problems to be solved in medical security for all diseases are accessibility and fairness. However, for rare diseases, the protection of accessibility and fairness is particularly prominent and sharp.

It is gratifying to note that there is active support from the state to local governments, from public welfare organizations to pharmaceutical companies, insurance companies and even Internet medical enterprises for the treatment of patients with rare diseases.

For example, in Jin enlin's opinion, the positive role of internet medical and e-commerce platform can be brought into play to solve the problem of accessibility through the advantages of Jingdong retail and e-commerce. The Internet platform can effectively break the time and space restrictions. Doctors can issue the re purchase prescription of drugs online and remotely. Patients can purchase the required drugs more conveniently through the online purchase and delivery service.

At present, e-commerce platforms such as Jingdong health and Ali health are also actively participating. For example, on February 27, JD Health launched the "rare disease care program". Xin Lijun, CEO of Jingdong health, introduced that the first phase of the plan will focus on building "Jingdong pharmacy rare disease care center" and "rare disease care fund". In the future, we will provide more help for the rare disease groups from the perspectives of ensuring drug supply, facilitating medical services, and promoting the construction of multi payment system.

Jin enlin also pointed out that rare diseases can not be solved by one enterprise, which needs the support of pharmaceutical enterprises and academic circles.

Wang yiou also told the 21st century economic reporter that the current "multi-party co payment model" is a recognized and feasible payment security system for rare diseases in the industry. The realization of the security system needs to be led by the government, integrate the market, society and other resources, and build a real multi-level drug security for rare diseases.

Although there are a series of favorable policies from the state to the local government, so far, there has not been a systematic and complete protection system for rare diseases, especially the high value drugs for rare diseases have not been included in the medical insurance.

Wang yiou pointed out that from the current situation, there is an obvious regional imbalance in the protection of rare diseases.

At present, Qingdao, which belongs to Shandong Province, has the largest guarantee for special drugs for rare diseases, with the highest reimbursement rate of about 95%. According to the medication data of 8 patients with Gaucher's disease in Qingdao, the average annual treatment cost is 1.775 million yuan, including 59000 yuan for charitable drug donation and 1072200 yuan for supplementary medical insurance reimbursement, which can reach 93.5% of the total drug cost. If the part of civil aid is added, the average self payment amount is about 80000 yuan (the actual proportion of individual self payment is 0.46% ~ 8.87%). Zhejiang Province's drug use guarantee mechanism for rare diseases stipulates that the top line of individual self payment is 100000 yuan.

This situation provides a historical opportunity for the practice and exploration of the new model of medical security for rare diseases.

In fact, the practice of multi-party co payment mode is a process of enriching "diversification" of system, subject, financing and payment.

In terms of system, in practice, the government has continuously strengthened the medical policy guarantee such as basic medical insurance, serious illness insurance and medical assistance, and promoted the introduction of incentive policies for commercial insurance and non-governmental charity assistance; government departments, pharmaceutical enterprises, commercial insurance companies, non-governmental charitable organizations and individuals constitute the multi-party participants in drug protection for rare diseases; medical insurance fund, government special fund, social security fund, etc We will raise funds from various sources, such as relief funds and individual donations from enterprises, to jointly solve the drug use problem of medical insurance for rare diseases. Different participants will explore together and improve the payment security system for rare diseases through innovative payment mode.

At present, the feasibility of multi-party co payment model has been well verified in practical operation. From February 2018 to February 2021, a total of three phases of the medical assistance project for rare diseases were carried out (including three regional special projects: Zhejiang special project, Shanxi special project and Shandong special project) from June 2020 to February 2021. 694 patients (8 who did not participate in the medical insurance) were approved, with a total number of 901 person times, and the total amount of assistance was more than 12.3325 million yuan. The aid objects covered 30 provinces in China Municipal autonomous region, covering 58 diseases, benefited more than 3000 people.

From 2018 to 2020, the average annual family medical expenditure of patients with rare diseases is 138525.70 yuan, accounting for 284.51% of the annual family income (138525.70 / 48689.82 × 100% = 284.51%). The medical burden of children's families was higher than that of adults (306.84% vs 284.51%).

Through medical insurance, rare disease medical assistance project and other charitable organizations, the medical burden of patients has been greatly reduced. On the basis of medical insurance reimbursement, the medical burden was reduced to 98% of the annual family income after receiving certain support through the medical assistance project for rare diseases; on the basis of medical insurance reimbursement + rare disease medical assistance project, some patients also received donations from other social charity organizations (such as public fund-raising, Red Cross Society, charity fund, etc.), and the medical burden continued to drop to 62%. Among them, the medical burden of patients with Gaucher disease and Fabry disease decreased from 502% and 122% of family income to 14% and 7%, avoiding catastrophic medical expenditure.

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