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Lack of medication hampers treatment of patients with rare diseases

By Wang Xiaodong | China Daily | Updated: 2019-05-23 07:58
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Children hug a rare diseases mascot in Beijing in February, days before Rare Disease Day on Feb 28. [ZHANG YUWEI/XINHUA]

Diagnosis dilemma

According to Dong Dong, a professor of public health at the Chinese University of Hong Kong, a lack of effective diagnosis and the high rate of misdiagnosis are major challenges for patients with rare diseases.

"Sixty percent of Gaucher patients in China have been misdiagnosed, and some have even had to visit several hospitals to have a diagnosis confirmed," she said. "Most patients can only obtain accurate diagnoses at large hospitals in Beijing."

Zhang Shuyang, vice-president of the China Alliance of Rare Diseases, said the country has a severe shortage of doctors capable of identifying such diseases, which is a major obstacle to diagnosis and treatment.

Qiu Zhengqing, a pediatrician at Peking Union Medical College Hospital, said that while diagnosis of rare diseases has improved over the past 10 years, medical professionals require more training.

"It is essential that we establish a network for the diagnosis and treatment of rare diseases to facilitate the transfer of patients (between hospitals)," she said.

"It is unrealistic to expect every hospital or doctor to provide accurate diagnoses of rare diseases. Because they are rarely seen, most doctors have not experienced such illnesses. However, with a sound network, doctors would be able to refer a suspected case to a certain hospital that excels in its diagnosis and treatment to enable timely intervention."

Spotlight

Since the beginning of the year, rare diseases have come under the spotlight, with a number of measures taken to facilitate diagnosis and treatment.

They include accelerated market approval procedures for medications developed overseas, reduced value-added tax on 21 drugs used to treat rare illnesses, and intensified training programs for doctors.

In February, the National Health Commission published China's first guidebook on the diagnosis and treatment of rare diseases to help medical professionals, especially those at grassroots institutions, better identify, diagnose and treat such illnesses.

A network of hospitals has also been established for the diagnosis and treatment of rare diseases, led by Peking Union Medical College Hospital.

The network, which covers 324 major hospitals nationwide, is expected to improve cooperation to improve diagnosis and treatment skills, promote training of doctors, establish related standards and regulations, and facilitate the referral of patients between hospitals.

Wang Lin, an expert on rare diseases at the Beijing Medical Association, said patients with rare illnesses were neglected in the past compared with those with other maladies, but in recent years they have received more attention.

"In the past, we were primarily focused on health insurance for common diseases," she said. "Now we try to cater to the interests of minority groups, such as people with rare diseases, which is a sign of progress."

However, many challenges remain to ensure effective diagnosis and treatment, including the provision of affordable drugs for such patients, she said.

The very low number of physicians capable of diagnosing rare diseases spread across a few major hospitals means it would be an arduous task to provide training for vast numbers of doctors nationwide to enable them to identify such diseases, she said.

"A long-term mechanism should be established to ensure financial resources to provide medical care for patients with rare diseases, including a basic medical insurance fund, commercial insurance and social relief funds," she added.

Li Dingguo, president of the Shanghai Rare Disease Prevention and Treatment Fund, said authorities should accelerate the inclusion of more drugs to treat rare diseases in basic medical insurance programs to improve patients' access to effective treatments.

He also suggested that laws and regulations should be formulated to improve patients' access to medication.

"Legislation is needed to speed up the entry procedures for drugs from overseas used to treat rare diseases and also to encourage domestic pharmaceutical companies to develop such drugs," he added.

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