PDF(Pubmed)
Abstract：
Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have been recognized, and new diseases are discovered every month. Although very few people are affected by each uncommon disease individually, millions of people are thought to be impacted globally when all these conditions are considered. Therefore, RDs represent an important public health concern. Although crucial for clinical care, early and correct diagnosis is still difficult to achieve in many nations, especially those with low and middle incomes. Consequently, a sizeable amount of the overall burden of RD is attributable to undiagnosed RD (URD). Existing barriers and policy aspects impacting the care of patients with RD and URD remain to be investigated.
To identify unmet needs and opportunities for patients with URD, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) conducted a survey among its members, who were from 20 different nations. The survey used a mix of multiple choice and dedicated open questions covering a variety of topics. To explore reported needs and analyze them in relation to national healthcare economical aspects, publicly available data on (a) World Bank ranking; (b) Current health expenditure per capita; (c) GDP per capita; (d) Domestic general government health expenditure (% of GDP); and (e) Life expectancy at birth, total (years) were incorporated in our study.
This study provides an in-depth evaluation of the unmet needs for 20 countries: low-income (3), middle-income (10), and high-income (7). When analyzing reported unmet needs, almost all countries (N = 19) indicated that major barriers still exist when attempting to improve the care of patients with UR and/or URD; most countries report unmet needs related to the availability of specialized care and dedicated facilities. However, while the countries ranked as low income by the World Bank showed the highest prevalence of referred unmet needs across the different domains, no specific trend appeared when comparing the high, upper, and low-middle income nations. No overt trend was observed when separating countries by current health expenditure per capita, GDP per capita, domestic general government health expenditure (% of GDP) and life expectancy at birth, total (years). Conversely, both the GDP and domestic general government health expenditure for each country impacted the presence of ongoing research.
We found that policy characteristics varied greatly with the type of health system and country. No overall pattern in terms of referral for unmet needs when separating countries by main economic or health indicators were observed. Our findings highlight the importance of identifying actionable points (e.g., implemented orphan drug acts or registries where not available) in order to improve the care and diagnosis of RDs and URDs on a global scale.
To identify unmet needs and opportunities for patients with URD, the Developing Nations Working Group of the Undiagnosed Diseases Network International (DNWG-UDNI) conducted a survey among its members, who were from 20 different nations. The survey used a mix of multiple choice and dedicated open questions covering a variety of topics. To explore reported needs and analyze them in relation to national healthcare economical aspects, publicly available data on (a) World Bank ranking; (b) Current health expenditure per capita; (c) GDP per capita; (d) Domestic general government health expenditure (% of GDP); and (e) Life expectancy at birth, total (years) were incorporated in our study.
This study provides an in-depth evaluation of the unmet needs for 20 countries: low-income (3), middle-income (10), and high-income (7). When analyzing reported unmet needs, almost all countries (N = 19) indicated that major barriers still exist when attempting to improve the care of patients with UR and/or URD; most countries report unmet needs related to the availability of specialized care and dedicated facilities. However, while the countries ranked as low income by the World Bank showed the highest prevalence of referred unmet needs across the different domains, no specific trend appeared when comparing the high, upper, and low-middle income nations. No overt trend was observed when separating countries by current health expenditure per capita, GDP per capita, domestic general government health expenditure (% of GDP) and life expectancy at birth, total (years). Conversely, both the GDP and domestic general government health expenditure for each country impacted the presence of ongoing research.
We found that policy characteristics varied greatly with the type of health system and country. No overall pattern in terms of referral for unmet needs when separating countries by main economic or health indicators were observed. Our findings highlight the importance of identifying actionable points (e.g., implemented orphan drug acts or registries where not available) in order to improve the care and diagnosis of RDs and URDs on a global scale.
摘要：
■患者，家庭,医疗保健系统,和整个社会都受到罕见疾病(RD)的显著影响。根据各种分类，目前有多达9000种不同的罕见疾病已经被确认，每个月都会发现新的疾病。尽管很少有人单独受到每种罕见疾病的影响，当考虑到所有这些情况时，数百万人被认为在全球受到影响。因此,RD是一个重要的公共卫生问题。尽管对临床护理至关重要，在许多国家，早期和正确的诊断仍然难以实现，特别是那些低收入和中等收入的人。因此,RD总负担中相当大的一部分归因于未确诊的RD(URD).影响RD和URD患者护理的现有障碍和政策方面仍有待调查。
■为了确定URD患者未满足的需求和机会，国际未诊断疾病网络（DNWG-UDNI）的发展中国家工作组在其成员中进行了一项调查，他们来自20个不同的国家。调查使用了多种选择和涵盖各种主题的专用开放式问题。探索报告的需求，并分析它们与国家医疗保健经济方面的关系，关于(a)世界银行排名；(b)当前人均卫生支出；(c)人均国内生产总值；(d)国内一般政府卫生支出(占国内生产总值的百分比)；(e)出生时预期寿命，总(年)纳入我们的研究。
■这项研究对20个国家的未满足需求进行了深入评估：低收入（3），中等收入（10），高收入（7）。在分析报告的未满足需求时，几乎所有国家(N=19)都表示,在试图改善UR和/或URD患者的护理时,仍然存在主要障碍;大多数国家报告说,与专业护理和专用设施的可用性相关的需求未得到满足.然而,虽然被世界银行列为低收入的国家在不同领域显示出最高的未满足需求，比较高点时没有出现具体的趋势，上,和中低收入国家。在按当前人均卫生支出划分国家时，没有观察到明显的趋势，人均GDP,国内一般政府卫生支出(占国内生产总值的百分比)和出生时预期寿命，总计（年）。相反，每个国家的国内生产总值和国内一般政府卫生支出都影响了正在进行的研究。
■我们发现，政策特征随卫生系统和国家的类型而有很大差异。在按主要经济或健康指标划分国家时，没有观察到转介未满足需求的总体模式。我们的发现强调了确定可操作点的重要性(例如，在没有的情况下实施孤儿药法案或登记册），以在全球范围内改善对RD和URD的护理和诊断。
■为了确定URD患者未满足的需求和机会，国际未诊断疾病网络（DNWG-UDNI）的发展中国家工作组在其成员中进行了一项调查，他们来自20个不同的国家。调查使用了多种选择和涵盖各种主题的专用开放式问题。探索报告的需求，并分析它们与国家医疗保健经济方面的关系，关于(a)世界银行排名；(b)当前人均卫生支出；(c)人均国内生产总值；(d)国内一般政府卫生支出(占国内生产总值的百分比)；(e)出生时预期寿命，总(年)纳入我们的研究。
■这项研究对20个国家的未满足需求进行了深入评估：低收入（3），中等收入（10），高收入（7）。在分析报告的未满足需求时，几乎所有国家(N=19)都表示,在试图改善UR和/或URD患者的护理时,仍然存在主要障碍;大多数国家报告说,与专业护理和专用设施的可用性相关的需求未得到满足.然而,虽然被世界银行列为低收入的国家在不同领域显示出最高的未满足需求，比较高点时没有出现具体的趋势，上,和中低收入国家。在按当前人均卫生支出划分国家时，没有观察到明显的趋势，人均GDP,国内一般政府卫生支出(占国内生产总值的百分比)和出生时预期寿命，总计（年）。相反，每个国家的国内生产总值和国内一般政府卫生支出都影响了正在进行的研究。
■我们发现，政策特征随卫生系统和国家的类型而有很大差异。在按主要经济或健康指标划分国家时，没有观察到转介未满足需求的总体模式。我们的发现强调了确定可操作点的重要性(例如，在没有的情况下实施孤儿药法案或登记册），以在全球范围内改善对RD和URD的护理和诊断。
