Rare genetic disease in China: a call to improve clinical services
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LETTER TO THE EDITOR
Open Access
Rare genetic disease in China: a call to improve clinical services M. Chopra1,2,3 and T. Duan1* Patients with rare genetic diseases are becoming increasingly recognised worldwide as an important public health challenge. Despite dramatic advances in public medicine and genomic research in China, the needs of the rare disease patient population are far from being met. Lack of accurate epidemiological data in China means that the true number of patients affected with a rare disease is unknown. 10 million is often cited, less than 1 % of the nation’s population of 1.3 billion [1, 2]. This is likely to be a gross underestimate. Rare diseases, most of them being genetic in origin, are often chronic, disabling and/or life—limiting [1]. 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 now that science is generating results which can directly benefit this population with enormous unmet needs. A rigorous epidemiological study is needed to understand the extent of this challenge in the world’s most populous nation. A number of important rare disease initiatives in China have been previously reported, including the establishment of patient registries, increased funding for translational research and advocacy for orphan drug legislation [1–3]. 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. Clinical Genetics services are offered in general hospitals in China mainly through obstetrics and paediatrics [4], but there is no minimum standard of care for the provision of such services. The Ministry of Health does not recognise Clinical Genetics as a medical specialty and no formal training program exists to qualify those * Correspondence: [email protected] 1 Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China Full list of author information is available at the end of the article
obstetricians, paediatricians and laboratory personnel who practice in this field. These physicians are under enormous pressure to see patients quickly, with limited time to perform the detailed clinical assessments and extensive literature searching that rare disease patients so often require. Accessing these services is a further challenge. With 50 % of patients in China living in rural centres [5], distance, cost and a fragmented province—based health system serve as barriers to access, as services are concentrated in the most populous cities. In non-metropolitan areas, there is lack of awareness amongst health professionals about the referral pathway for patients with undiagnosed genetic conditions [6]. While next generation sequencing rapidly progresses in China, a number of barriers l
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