title: Effectiveness of a web-based protocol for the screening and phenotyping of individuals with Tourette syndrome for genetic studies.
abstract: Genome-wide association studies (GWAS) and other emerging technologies offer great promise for the identification of genetic risk factors for complex psychiatric disorders, yet such studies are constrained by the need for large sample sizes. Web-based collection offers a relatively untapped resource for increasing participant recruitment. Therefore, we developed and implemented a novel web-based screening and phenotyping protocol for genetic studies of Tourette syndrome (TS), a childhood-onset neuropsychiatric disorder characterized by motor and vocal tics. Participants were recruited over a 13-month period through the membership of the Tourette Syndrome Association (TSA; n = 28,878). Of the TSA members contacted, 4.3% (1,242) initiated the questionnaire, and 79.5% (987) of these were enrollment eligible. 63.9% (631) of enrolled participants completed the study by submitting phenotypic data and blood specimens. Age was the only variable that predicted study completion; children and young adults were significantly less likely to be study completers than adults 26 and older. Compared to a clinic-based study conducted over the same time period, the web-based method yielded a 60% larger sample. Web-based participants were older and more often female; otherwise, the sample characteristics did not differ significantly. TS diagnoses based on the web-screen demonstrated 100% accuracy compared to those derived from in-depth clinical interviews. Our results suggest that a web-based approach is effective for increasing the sample size for genetic studies of a relatively rare disorder and that our web-based screen is valid for diagnosing TS. Findings from this study should aid in the development of web-based protocols for other disorders.
authors.affiliation: Langley Porter Psychiatric Institute, Department of Psychiatry, University of California, San Francisco, California 94143, USA. caegan@my.uri.edu
authors.forename: Crystelle A
authors.initials: CA
authors.lastname: Egan
authors.forename: Susan E
authors.initials: SE
authors.lastname: Marakovitz
authors.forename: Julia A
authors.initials: JA
authors.lastname: O'Rourke
authors.forename: Lisa
authors.initials: L
authors.lastname: Osiecki
authors.forename: Cornelia
authors.initials: C
authors.lastname: Illmann
authors.forename: Lauren
authors.initials: L
authors.lastname: Barton
authors.forename: Elizabeth
authors.initials: E
authors.lastname: McLaughlin
authors.forename: Rachel
authors.initials: R
authors.lastname: Proujansky
authors.forename: Justin
authors.initials: J
authors.lastname: Royal
authors.forename: Heather
authors.initials: H
authors.lastname: Cowley
authors.forename: Martha
authors.initials: M
authors.lastname: Rangel-Lugo
authors.forename: David L
authors.initials: DL
authors.lastname: Pauls
authors.forename: Jeremiah M
authors.initials: JM
authors.lastname: Scharf
authors.forename: Carol A
authors.initials: CA
authors.lastname: Mathews
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D055106:Genome-Wide Association Study; D006801:Humans; D020407:Internet; D008297:Male; D001523:Mental Disorders / Q000235:genetics; D009771:Obsessive-Compulsive Disorder / Q000235:genetics; D010641:Phenotype; D011795:Surveys and Questionnaires; D005879:Tourette Syndrome / Q000097:blood / Q000235:genetics*; D055815:Young Adult