• The Survey workgroup reported that the survey is in its second wave of mailings. Deliverables have been on time, with the exception of reminder post cards due to Scantron issues. Final data will be available in September. The survey population demographics, sampling strategy rationale, experimental design, and response rates were discussed. Overall response rate is 12% with the expectation of an increase with the second wave to 15-16%. Preliminary results indicate that most people are interested and willing, and will allow their child to participate in a biobank, though they are a little more conservative about their children. The group discussed accepted and in-progress manuscripts. Analysis is expected to extend beyond the grant period, and a no cost extension has been granted for all sites until February 2016. • The overall Workgroup reported on the Infobutton project and the “For Health Professionals” section of MyHealthResults.org, which has experienced a significant level of usage. The group discussed overlap with the Return of Results workgroup and collaborations with other groups inside and outside of eMERGE (Including CSER and the pediatric workgroup). Challenges addressing regulation/regulatory environment were discussed, and ideas for future goals and efforts (such as online education) were developed. Group Health / UW Site Report – Gail Jarvik & Eric Larson • The site reported the results of their GWAS study of Varicella Zoster, in which recruitment for replication is in process. The group provided updates on the ongoing investigations into CAAD and C-diff phenotypes, copy number variations, and the PGx project. In addition, the site outlined the pilot study on hematological adverse drug events in the PGx cohort being conducted (which has been submitted as an abstract to ASHG). CERC highlights were provided- focus groups and stakeholder interviews, manuscripts in progress and published. • The group described their experience with Alzheimer disease studies, a phenotype ongoing from Phase I. Collaborating with the National Alzheimer’s Disease Consortium has been a positive and productive experience. Recently the site entered into a collaboration with a larger international consortium. • GH/UW conducted key informant interviews into appropriate and effective integration of genomic information into clinical care and the EMR, which illuminated interest in up-stream CDS processes. • The group has already returned the results of known pathogenic variants to 3 participants. The medical value of being able to study a family pedigree was discussed. • The site is on schedule to wrap up Phase II efforts on time. • The group discussed returning results and education efforts at different sites (including Mayo). eMERGE PGx Plenary Session – Dan Roden, Josh Denny, & Laura Rasmussen-Torvik • The group highlighted accomplishments (nearly completed with all goals, all goals expected to be completed by the end of the grant), reviewed work in progress (primarily Process Outcomes measures) and discussed moving forward (such as a one-time analysis of prescription based drug exposure data). Special attention was given to describing the cohort, and there was discussion on the differences between the variation found in the eMERGE cohort and that of other cohorts. The PGx set has significantly more variation than ExAC, for example, but we have more read depth. Variance is upstream, downstream, and intronic variance. Public data is only shared start to stop. Optimization of the sequencing platform is also a possible source of the discordance. BCH / CCHMC Site Report - Ingrid Holm and John Harley • The site reported their progress towards their aims. Results towards their first aim include creating a model for ensuring phenotypic standardization and national scalability (SHRINE). Aim 2 results include the indication of age dependence of the obesity phenotype, the identification of a subgroup of autistic patients that had seizures, and investigations into inversion/risk haplotype at BLK. • The group also described PGRNseq data (776 PGRNseq results were received and uploaded to SPHINX and dbGaP). Results towards aim 3 indicated parents and physicians used CYP2D6 results to care for the child, and parents were likely to share the CYP2D6 results with their child’s physician and pharmacist (but not with the child). Aim 4 results include providers placing importance on returning research results that could potentially improve their patients’ health outcomes (82% plan to enter CYP2D6 results in child’s EMR).