Effectiveness of a web-based protocol for the screening and phenotyping of individuals with Tourette syndrome for genetic studies

Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):987-96. doi: 10.1002/ajmg.b.32107. Epub 2012 Oct 22.

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.

Publication types

  • Research Support, American Recovery and Reinvestment Act
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Genome-Wide Association Study
  • Humans
  • Internet*
  • Male
  • Mental Disorders / genetics
  • Obsessive-Compulsive Disorder / genetics
  • Phenotype
  • Surveys and Questionnaires*
  • Tourette Syndrome / blood
  • Tourette Syndrome / genetics*
  • Young Adult