ClinSeq - Clinical and Behavioral Aspects

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In FY2019 we have substantially advanced the goals and objectives for the ClinSeq clinical and behavioral project by performing the following ongoing substudies. Randomized controlled trial of return of results As sequencing technology is new, it is important to understand how the medical system can take up this technology. We developed a cost effective web-based return of results platform and tested it in a randomized controlled trial. This study has been completed, analyzed, and three publications have emanated from this. We have also explored participant reactions to variants of uncertain clinical significance. This is a major challenge in genomics and we have completed a trial where we will return variants of unknown significance either above or below the 50% threshold of likelihood of pathogenicity to gauge participant reactions to such variants, and measure their intentions to implement medical care based on these results. Finally, with respect to our new African-American cohort, we have performed a baseline survey of attitudes and intentions, which has been published. We are now performing focus groups to explore preferences and intents in a more nuanced way. We are running a randomized controlled trial of returning negative secondary findings reports by web interface.