ClinSeq - Clinical and Behavioral Aspects

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In FY2016 we have substantially advanced the goals and objectives for the ClinSeq clinical and behavioral project by performing the following ongoing substudies. Incidental findings. We are aggressively pushing into the area of malignant hyperthermia by convening an expert panel under the ClinGen umbrella to develop standards and evaluate variants for this important disease. I have also been appointed chair of the Clinical Pharmacogenetic Implementation Consortium working group on malignant hyperthermia. 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. As an important foundation for understanding many related questions, we have developed an extensive survey of baseline attitudes towards this sequencing technology. This survey has been completed, analyzed, and a draft publication is under review. Our major effort in this domain is that we have completed recruitment for a large (n=400), controlled experiment with experimental arms that vary the mode of return of results to compare the classical model of direct clinician interaction with a new mode of web-based results return. This experiment will be key to discovering efficient modes of return of results. We are currently analyzing data for this study. We are also exploring participant reactions to variants of uncertain clinical significance. This is a major challenge in genomics and we have designed 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.