Abstract

Rare genetic disease in China: a call to improve clinical services.

Highlights

  • Patients with rare genetic diseases are becoming increasingly recognised worldwide as an important public health challenge

  • Accepting that rare genetic disease is an enormous public health challenge is the first step to health care and policy reform to better serve the needs of this patient population, especially that science is generating results which can directly benefit this population with enormous unmet needs

  • While there is no doubt that a response to rare disease in China needs to be multifaceted—as it has been in Western countries—we believe that the most important priority at present should be to systematically improve the quality and accessibility of services for the diagnosis of rare genetic disease

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Summary

Introduction

Patients with rare genetic diseases are becoming increasingly recognised worldwide as an important public health challenge. Lack of accurate epidemiological data in China means that the true number of patients affected with a rare disease is unknown. Accepting that rare genetic disease is an enormous public health challenge is the first step to health care and policy reform to better serve the needs of this patient population, especially that science is generating results which can directly benefit this population with enormous unmet needs.

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Conclusion
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