Let ＂rare diseases＂ no longer be ＂orphans＂ —— What is the expectation of ＂one pill＂ for patients with major diseases？

Xinhua News Agency, Beijing, February 20th Question: Let "rare diseases" no longer be "orphans"-What is the expectation of "one pill" for patients with major diseases?

Xinhua News Agency reporters Xiao Sisi, Liao Jun, Bao Xiaojing and Lin Miaomiao

Following the price reduction of some anticancer drugs and medical insurance, "ensuring the use of drugs for 20 million patients with rare diseases" was put on the agenda and attracted much attention. Recently, the State Council held an executive meeting to deploy measures to strengthen the early diagnosis and treatment of cancer and drug security, and decided to give VAT concessions to rare drugs.

From frequently-occurring and common diseases to rare and difficult diseases, the state has played a "combination boxing" to meet the expectations of patients with major diseases for "one pill".

Prevention and treatment of rare diseases play a "combination boxing"

Rare diseases are often called "medical orphans" because of their few clinical cases and little experience, which leads to high misdiagnosis, high missed diagnosis and difficult medication.

Feifei, a two-year-old boy from Hefei, Anhui, suffers from "painless anhidrosis". He often bites his fingers until they are bloody and pulls out his four teeth with his hands, but there is no pain. There are only about 100 cases of this rare disease in the world.

Feifei’s "painless anhidrosis" is one of the more than 7,000 rare diseases confirmed at present. According to the definition of the World Health Organization, rare diseases refer to diseases in which the number of patients accounts for 0.65 ‰-1 ‰ of the total population, including gradual freezing, "glass man" (hemophilia), "puppet man" (multiple sclerosis), involuntary dancing (Huntington’s disease), limp children (spinal muscular atrophy), PNH (paroxysmal nocturnal hemoglobinuria) and so on. In fact, rare diseases are not rare. There are more than 7,000 rare diseases, and the total number of patients with all rare diseases in China has reached more than 20 million …

Pan Longfei, 30, is a patient with Kalman syndrome. This is a rare hereditary disease. Because of hypogonadism, patients suffer from hypoplasia or loss of secondary sexual characteristics, in addition to the loss of sense of smell.

"I was diagnosed at the age of 23." Pan Longfei said that since he was a child, he was thinner and sicker than others. From the age of 6, his parents took him everywhere for medical advice, and it was not until he was 23 years old that he was diagnosed. Every two or three days, he needs to inject human chorionic gonadotropin (HCG) to maintain hormone balance in the body. Pan Longfei said that there is a saying in the industry that "rare diseases are rare, but doctors who can see rare diseases are actually even rarer."

Zhang Shuyang, vice president of Peking Union Medical College Hospital, believes that "from caring for frequently-occurring and common diseases to caring for rare and difficult diseases, especially rare diseases with poor prognosis, caring for patients with rare diseases is the embodiment of social development and civilization, and also represents the fairness and justice of medical treatment. The standardization of diagnosis and treatment of rare diseases and the development of orphan drugs will also drive the development of the overall level of medicine. "

In the past year, the country gradually standardized the diagnosis and treatment of rare diseases.

The 2018 edition of the National Essential Medicines Catalogue and the First Batch of Rare Diseases Catalogue jointly formulated by five departments including the National Health and Wellness Commission have been published one after another … Cancer and rare disease patients have ushered in hope.

Recently, from cancer to rare diseases, the state once again introduced a "combination boxing" for the prevention and treatment of major diseases.

-ensuring medication for patients with rare diseases. Following the State Council’s inclusion of supporting "orphan drugs" in the key task of deepening medical reform in the 13th Five-Year Plan in December 2016, on February 11th this year, the Standing Committee of the State Council decided to give value-added tax concessions to drugs with rare diseases. From March 1st, for the first batch of 21 medicines with rare diseases and 4 APIs, VAT will be levied at a reduced rate of 3% for the import link with reference to anticancer drugs, and at home, VAT can be levied at a simple rate of 3%.

On February 15th, official website, National Health Commission issued the Notice of the General Office of the National Health and Wellness Commission on Establishing a National Collaborative Network for Diagnosis and Treatment of Rare Diseases, and selected 324 hospitals with strong diagnosis and treatment capabilities and more cases as collaborative network hospitals to form a collaborative network for diagnosis and treatment of rare diseases.

According to Wang Ping, Director of the Department of Drug Registration of National Medical Products Administration, a special review mechanism has been established for overseas new drugs that are urgently needed in clinic, and the first batch of 48 varieties that are urgently needed in clinic have been selected, including therapeutic drugs for rare diseases and some drugs that are seriously life-threatening. The approval time for therapeutic drugs for rare diseases is concluded within 3 months, and for other urgently needed therapeutic drugs, it is concluded within 6 months. In 2018, 18 new anticancer drugs were approved, an increase of 157% over 2017.

Shorten the "reflex arc" of policy dividends to the grassroots.

Reporters at the grassroots level found that the inability to buy medicine and the high cost of treatment have become a "life and death test" for patients with rare diseases.

The number of patients with some drugs is too small, pharmaceutical companies are unwilling to produce, and patients have no drugs available.

Zhang Shuyang said that among the 121 diseases listed in the first list of rare diseases, there are 54 medicines available for 39 diseases. Among them, 29 drugs listed in China can treat 21 diseases. There are also most rare diseases for which no medicine is available.

Some drugs for rare diseases are expensive, which makes patients daunting. Qin Jiong, director of pediatrics at Peking University People’s Hospital, said that in the United States, the average annual treatment cost for patients with rare diseases is $137,000, a large proportion of which is medicine.

In Wuhan Children’s Hospital, Xiao Yuzhe, who is more than one year old, lies quietly in his mother’s arms, his palm-sized face is covered by a mask, and his small hand is stuck with an indwelling needle. Xiao Yuzhe has been in the hospital for nearly five months.

"Langerhans histiocytosis-his father and I were stunned after hearing the doctor’s diagnosis. Two people sat outside holding their mobile phones and found out that they were crying with their children." Yuzhe’s mother counted with her fingers, and she has spent more than 110,000 yuan since she was admitted to the hospital. "I heard that the follow-up treatment will cost more than 100,000 yuan."

"cladribine, a needle costs more than 7000 yuan, one course of treatment takes 5 sticks, and the follow-up takes 3 or 4 courses. This does not include the cost of other therapeutic drugs. " Li Hui, deputy director of the oncology department of the hospital, said that Yu Zhe’s disease can’t be regarded as leukemia, and it can’t rely on solid tumors. He can’t even enjoy the policy of serious illness relief. This time, the country has published a list of rare diseases, and recently, the tax burden of these rare drugs has been greatly reduced, and the prices should be lowered accordingly, which brings a glimmer of hope to the families of rare patients like Yuzhe’s mother.

Due to the small amount of drugs used for rare diseases and the large investment of enterprises in drug research and development, the drugs for rare diseases produced in China are often scarce or expensive. However, this situation has gradually improved.

For example, Professor Liu Li, Chairman of the Rare Diseases Branch of Guangdong Medical Association and Director of the Department of Genetics and Endocrinology of Guangzhou Women and Children Medical Center, used to want to get drugs for treating rare diseases, but they could not be bought through formal channels. After the patient tried his best to buy the medicine, the hospital dared not give it to the patient. "With the introduction of a series of policies, some therapeutic drugs included in the list of rare diseases have quickly entered the China market through the green channel."

Reporters in Guangdong, Anhui, Hubei and other places learned that 17 kinds of anticancer drugs negotiated by the state have landed, and patients can enjoy medical insurance reimbursement. According to the Anhui Provincial Medical Insurance Bureau, while ensuring the implementation of 17 kinds of anticancer drug policies negotiated by the state, Anhui implemented quantity procurement for another 13 kinds of anticancer drugs at the end of 2018, and the average price of these 13 kinds of drugs dropped by 39.52%. For example, the drug with the biggest drop is gefitinib tablets for the treatment of non-small cell lung cancer, from more than 1,000 yuan per box to more than 400 yuan.

What other "prescriptions" are eagerly awaited by the masses?

At the grassroots level, what are the eager hopes for patients with major diseases to use drugs?

-Strengthen the research and development of new drugs and improve the accessibility of patients’ medication.

Ensuring the supply of orphan drugs is the basis for patients with rare diseases to "save their lives".

Experts from Beijing and Guangzhou believe that it is an indisputable fact that many patients with rare diseases are prone to early disability and young death. It is imperative for hospitals to buy medicines first.

Li Hui and other experts believe that the treatment of rare diseases mainly depends on drugs, and the proportion of drug expenditure in the main medical expenditure of patients with rare diseases often reaches 80% or even higher. The preferential tax on import has brought positive influence to the market of rare disease drugs. If patients with rare diseases can afford high-end drugs, the fundamental solution is to strengthen the production and research of independent drugs.

Yan Shijie, director of gynecology department of the First Affiliated Hospital of Anhui Medical University, believes that "orphan medicine" needs the support of national policies, directional production, tax reduction and exemption, and at the same time, the establishment of national reserve system and alarm mechanism to adjust supply and demand in time.

-Accelerate the improvement of the diagnosis and treatment system for major diseases such as cancer, promote the screening of rare diseases and cancers, and make efforts to reduce the mortality rate.

Early screening and early treatment are the first line of defense-according to clinical statistics, more than 80% of rare diseases are caused by heredity. Li Long, chief physician of Beijing Pediatric Research Institute, believes that the establishment of prenatal screening and physical examination for children is the cheapest and most efficient means to prevent and treat rare diseases. In addition, improving the standardized diagnosis and treatment of rare diseases nationwide, especially strengthening preventive treatment, can prevent them in advance and reduce the disability and death of rare diseases.

Liu Li believes that the establishment of the national rare disease cooperation network is to make the diagnosis and treatment of rare diseases relatively centralized and two-way referral, reduce misdiagnosis and mistreatment, and give patients with rare diseases who have already developed a more suitable diagnosis and treatment plan.

-Optimizing the medical security system. Clinical experts believe that some targeted drugs and immunotherapy are expensive, and it is necessary to establish a multi-level security system and a multi-payment system as soon as possible.

Hao Chunpeng, president of China Medical Insurance Magazine, believes that it is necessary to establish a multi-level medical security system, provide social support through medical assistance and charity, and make various high-level supplements through commercial insurance to ensure people’s different levels of medical needs.