Purpose

Social media may be particularly valuable in research in rare genetic diseases because of the low numbers of patients and the rare disease community’s robust online presence. The goal of this systematic review was to understand how social media is currently used in rare disease research and the characteristics of the participants in these studies.

Methods

We conducted a systematic review of six databases to identify studies published in English between January 2004 and November 2020, of which 120 met inclusion criteria.

Results

Most studies were observational (n = 114, 95.0%) and cross-sectional (n = 107, 89.2%), and more than half (n = 69, 57.5%) utilized only surveys. Only 101 rare diseases were included across all studies. Participant demographics, when reported, were predominantly female (70.1% ± 22.5%) and white (85.0% ± 11.0%) adult patients and caregivers.

Conclusion

Despite its potential benefits in rare disease research, the use of social media is still methodologically limited and the participants reached may not be representative of the rare disease population by gender, race, age, or rare disease type. As scholars explore using social media for rare disease research, careful attention should be paid to representativeness when studying this diverse patient community.

中文翻译：

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罕见遗传病社交媒体研究的机遇和陷阱：系统回顾

目的

社交媒体可能对罕见遗传病的研究特别有价值，因为患者数量少，而且罕见病社区在网上的影响力很大。本系统评价的目的是了解社交媒体目前如何用于罕见病研究以及这些研究参与者的特征。

方法

我们对六个数据库进行了系统审查，以确定 2004 年 1 月至 2020 年 11 月期间以英文发表的研究，其中 120 项符合纳入标准。

结果

大多数研究是观察性的（n  = 114, 95.0%）和横断面研究（n  = 107, 89.2%），超过一半的研究（n  = 69, 57.5%）仅使用调查。所有研究仅包括 101 种罕见病。据报告，参与者的人口统计数据主要是女性 (70.1% ± 22.5%) 和白人 (85.0% ± 11.0%) 成年患者和护理人员。

结论

尽管社交媒体在罕见病研究中具有潜在的好处，但社交媒体的使用在方法论上仍然受到限制，而且所接触到的参与者可能无法代表性别、种族、年龄或罕见病类型的罕见病人群。随着学者们探索使用社交媒体进行罕见病研究，在研究这个多样化的患者群体时应特别注意代表性。