Virtual research visits and direct-to-consumer genetic testing in Parkinson’s disease

Abstract

Objective The purpose of this study was to conduct a proof-of-concept study to evaluate remote recruitment and assessment of individuals (“virtual research visits”) with Parkinson's disease who have pursued direct-to-consumer genetic testing. Methods Participants in 23andMe’s “Parkinson’s Research Community” were contacted by 23andMe. Fifty willing participants living in 23 states underwent a remote, standardized assessment including cognitive and motor tests by a neurologist via video conferencing and then completed a survey. Primary outcomes assessed were (a) proportion of participants who completed the remote assessments; (b) level of agreement (using Cohen’s kappa coefficient) of patient-reported data with that of a neurologist; and (c) interest in future virtual research visits. Results The self-reported diagnosis of Parkinson’s disease was confirmed in all cases ( k = 1.00). The level of agreement for age of symptom onset ( k = 0.97) and family history ( k = 0.85) was very good but worse for falling ( k = 0.59), tremor ( k = 0.56), light-headedness ( k = 0.31), and urine control ( k = 0.15). Thirty-eight (76%) of the 50 participants completed a post-assessment survey, and 87% of respondents said they would be more or much more willing to participate in future clinical trials if they could do research visits remotely. Conclusion Remote clinical assessments of individuals with known genotypes were conducted nationally and rapidly from a single site, confirmed self-reported diagnosis, and were received favorably. Direct-to-consumer genetic testing and virtual research visits together may enable characterization of genotype and phenotype for geographically diverse populations.