jueves, 1 de febrero de 2018

Web Platform vs In-Person Genetic Counselor Return of Carrier Results | Genetics and Genomics | JAMA Internal Medicine | The JAMA Network

Web Platform vs In-Person Genetic Counselor Return of Carrier Results | Genetics and Genomics | JAMA Internal Medicine | The JAMA Network

NIH National Human Genome Research Institute

Online genetic counseling

Study: Sharing genomic results online works well for many, reduces health care costs

The cost of sequencing a person's genome has fallen considerably in the past 25 years. However, the cost of communicating genome results to patients is still sky-high, relying as it does on one-on-one counseling. In a new study, National Human Genome Research Institute researchers determined that sharing some types of genomic results online works well and could reduce health care costs. The next research question? Finding those for whom online sharing of genomic results doesn't work and ensuring they get in-person services.

January 22, 2018

Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome SequencingA Randomized Clinical Trial

JAMA Intern Med. Published online January 22, 2018. doi:10.1001/jamainternmed.2017.8049

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

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