Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing

• DOI: 10.1001/jamainternmed.2017.8049
• Publication Date: 2018-01-22T17:30:32Z
• Authors: Barbara B. Biesecker; Katie L. Lewis; Kendall L. Umstead; Jennifer J. Johnston; Erin Turbitt; Kristen P. Fishler; John H. Patton; Ilana M. Miller; Alexis R. Heidleb...; Leslie G. Biesecker
• Keywords: Exome

A critical bottleneck in clinical genomics is the mismatch between large volumes of results and availability knowledgeable professionals to return them.To test whether a web-based platform noninferior genetic counselor for educating patients about their carrier from exome sequencing.A randomized noninferiority trial conducted longitudinal sequencing cohort at National Institutes Health February 5, 2014, December 16, 2016, was used compare with counselor. Among 571 eligible participants, 1 7 heterozygous variants were identified genes that cause phenotype recessively inherited. Surveys administered after enrollment, immediately following education, month 6 months later primarily healthy postreproductive participants who expressed interest learning results. Both intention-to-treat per-protocol analyses applied.A integrated education on personal designed directly parallel disclosure by The sessions took mean (SD) time 21 (10.6), 27 (9.3) minutes, respectively.The primary outcomes margins (δNI) knowledge (0 8, δNI = -1), test-specific distress 30, +1), decisional conflict (15 75, +6).After 462 (80.9%) provided consent randomized, all but 3 (n 459) completed surveys counseling; 398 (86.1%) 1-month 392 (84.8%) 6-month surveys. Participants predominantly well-educated, non-Hispanic white, married parents; age 63 (63.1) years 246 (53.6%) men. web assessed months: (mean group difference, -0.18; lower limit 97.5% CI, -0.63; (median 0; upper choosing learn 1.18; 2.66; +6). There no significant differences counselors detected modes delivery rates spouses (151 vs 159; relative risk [RR], 1.04; 95% 0.64-1.69; P > .99), children (103 117; RR, 1.07; 0.85-1.36; .59), or siblings (91 78; 1.17; 0.94-1.46; .18).This demonstrates among postreproductive, mostly adults. Replication studies younger more diverse populations are needed establish generalizability. Yet via may be sufficient subsets results, reserving greater health threat.clinicaltrials.gov Identifier: NCT00410241.