Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA, USA.
Lane Medical Library, Stanford University, Stanford, CA, USA.
Genet Med. 2021 Dec;23(12):2250-2259. doi: 10.1038/s41436-021-01273-z. Epub 2021 Jul 19.
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.
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.
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.
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.
社交媒体在罕见遗传疾病的研究中可能特别有价值，因为患者人数较少，而罕见疾病社区在网络上的活跃度很高。本系统评价的目的是了解社交媒体在罕见疾病研究中的当前使用情况，以及这些研究中参与者的特征。
我们对六个数据库进行了系统评价，以确定 2004 年 1 月至 2020 年 11 月期间以英文发表的研究，其中有 120 项符合纳入标准。
大多数研究为观察性研究（n=114，95.0%）和横断面研究（n=107，89.2%），超过一半（n=69，57.5%）仅使用调查。所有研究共纳入 101 种罕见疾病。报告的参与者人口统计学特征主要为女性（70.1%±22.5%）和白人（85.0%±11.0%）成年患者和护理人员。
尽管社交媒体在罕见疾病研究中有潜在的益处，但它的使用在方法学上仍然受到限制，而且通过性别、种族、年龄或罕见疾病类型，所涉及的参与者可能无法代表罕见疾病人群。随着学者们探索使用社交媒体进行罕见疾病研究，在研究这个多样化的患者群体时，应谨慎关注代表性。
