Using the internet to seek information about genetic and rare diseases: A case study comparing data from 2006 and 2011

Background: the genetic and rare disease information center (gard) is a major provider of web-based information on genetic and rare diseases. little is known about the type of web-based information individuals seek about genetic and rare diseases or their reasons for seeking. objective: the objective of this paper is to describe the types of web-based information sought about genetic and rare diseases and the reasons for seeking it from gard by examining inquiries from 2006 and 2011. methods: there were 278 english-language email and web-based inquiries posed to gard by lay individuals (ie,patients,parents,and relatives),which were randomly selected from inquiries in 2006 (n=68) and 2011 (n=210) and examined using content analysis. results: most often in both years,individuals sought basic disease information (51/68,75.0% and 132/210,62.8%; p=.067) and information about treatment (17/51,33.3% and 62/132,47.0%; p=.095). specifically,inquirers requested information about their disease prognosis (6/51,11.8% and 23/132,17.4%; p=.347) and made requests for specialists (8/68,11.8% and 31/210,14.8%; p=.536). in both 2006 and 2011,a substantial subset of inquirers requested information related to undiagnosed symptoms,representing 16.2% (11/68) and 11.9% (25/210; p=.362) of inquiries,respectively. inquirers were significantly more likely to have seen a health care provider before contacting gard (99/210,47.1% vs 20/68,29.4%; p=.010) and to ask about clinical research studies in 2011 than in 2006 (24/210,11.4% vs 2/68,2.9%; p=.037). in the 2011 data set,the majority of the inquirers were women (201/210,95.7%). in our 2006 sample,men were the majority source of inquiries (54/68,79.4%). conclusions: findings from this study indicate that lay people contacting a genetic and rare disease information center most often seek information about disease prognosis,finding a specialist,and obtaining a diagnosis for symptoms. unique characteristics of individuals searching the internet for genetic and rare diseases information,includes a growing interest in participating in clinical research studies and a desire to supplement or better understand information discussed during a visit with a health care provider. these efforts represent advancements in patient self-advocacy.