In FY2014 we have substantially advanced the goals and objectives for the ClinSeq clinical and behavioral project by performing the following ongoing substudies. Incidental findings. The topic of incidental findings has exploded onto the clinical and research agenda, to no small extent facilitated by the ClinSeq(c) study. In the prior periods, we piloted incidental findings by identifying cancer susceptibility variants (Johnston et al, 2012), cardiomyopathy and dysrhythmia variants (Ng et al, 2013) and malignant hyperthermia (Gonsalves et al, 2013). We have extending this into a broader project to explore all null variants (novel and known) in genes known to cause human disease in an autosomal dominant pattern and correlating this with phenotype. The analysis for this is completed and a draft manuscript has been submitted.. Indeed, the ClinSeq(c) experience substantially contributed to the recommendations issued by the American College of Medical Genetics on incidental findings (Green et al, 2013). 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 will be submitted this fall. Our major effort in this domain is that we have initiated 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 accruing 10 participants per week 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.
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