Genetics Consortium Meeting Agenda - February 1st & 2nd, 2022
The agenda outlines discussions and presentations at the Genetics Consortium Meeting on February 1st & 2nd, 2022 in Los Angeles. Topics include GIRA progress, return of results, transgender-inclusive research, polygenic risk scores, and collaboration across consortiums.
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Wednesday, February 1st, 2022 Venue: Meeting Room: Centennial Ballroom C&D Breakout Room: Legacy A&B UCLA Luskin Conference Center, 425 Westwood Plaza, Los Angeles, CA 90095 8:00 - 8:30 AM Working breakfast: Discussions on GIRA progress (Centennial Prefunction) 8:30 - 8:45 AM NHGRI Program Officer Report | Robb Rowley (NIH/NHGRI) 8:45 - 9:00 AM Announcements, opening remarks | Rex Chisholm (SC Chair, Northwestern) 9:00 - 10:40 AM Panel: GIRA & Integration Return of Results & Early Lessons Learned (30 mins) | Nita Limdi (UAB), Eimear Kenny (Mt. Sinai), Wendy Chung (Columbia) GIRA Review Process (15 min) | Scott Nigbur (Mayo) Edge Cases in the Wild (10 min) | Matt Lebo (MGB) Return of Results Education (15 min) | Sabrina Suckiel (Mt. Sinai) & Maya Sabatello (Columbia) General Q & A, Discussion (20 min) 10:40 - 11:05 AM Networking Break 11:05 - 11:30 AM Conducting transgender-inclusive research in genetics | ST Bland (VUMC) & Kate Mittendorf (VUMC) Presentation: Operations update of Broad & Invitae, lessons learned | Niall Lennon (Broad) & Sienna Aguilar (Invitae) 11:30 - 12:00 PM 12:10 - 1:10 PM Working Lunch: Discussions on recruitment progress (Centennial Prefunction) 1:30 - 1:50 PM Realizing the potential of secure and decentralized harmonization of clinical and genetic data for precision medicine | Gamze Gursoy (Columbia) 1:50 - 3:10 PM Workgroup breakout session CARE (Centennial Hall) EHRI & Clinical Decision Support (Legacy A&B) 3:10 - 3:30 PM Networking Break 3:30 - 3:55 PM Presentation: Outcomes update since ESP meeting | Nita Limdi (UAB) & Dave Veenstra (UW) 3:55 - 4:15 PM A Polygenic Risk Score for Chronic Kidney Disease in African American Populations | Alana Jones (UAB) 4:15 - 4:20 PM Closing Remarks | Rex Chisholm (SC Chair, Northwestern) 4:20 PM Adjourn 5:15 - 7:30 PM Courtyard Welcome eMERGE & PRIMED | Iman Martin, Robb Rowley, Leah Mechanic and Rachel Hanisch Discussion Topic: Collaboration across the consortiums Historical GWAS data and biases The future of data availability & collaboration General Session Meeting ID: 950 1865 3269 Passcode: 840651 Meeting Link: https://zoom.us/j/95018653269?pwd=ekVISTNnYlhJZkxBZnV3RDNrdmpOQT09 Dial-In: +13126266799,,95018653269#,,,,*840651# or Information Breakout Session Meeting ID: 918 4528 2587 Passcode: 819103 Meeting Link: https://zoom.us/j/91845282587?pwd=Z245c1Q2Y3NuS3RSeXZKUVZER1ZyQT09 Dial-In: +13052241968,,91845282587#,,,,*819103# or +13092053325,,91845282587#,,,,*819103# Dial-In A G C T A A A T G C G A G G T C T T A G C T A A A T G C G A G G T C T T A G C T A A A T G C G A G G T C T T A G C T A A A T G C G A G G T C T T A G C T A A A T G C G T C G +16465588656,,95018653269#,,,,*840651#
PRIMED & eMERGE Polygenic Risk Scores: Past, Present, & Future Joint Steering Committee Meeting AGENDA Wednesday, February 1st, 2023 Courtyard 5:15 - 7:30 PM Welcome eMERGE & PRIMED | Iman Martin, Robb Rowley, Leah Mechanic and Rachel Hanisch Discussion Topic: Collaboration across the consortiums Historical GWAS data and biases The future of data availability & collaboration Thursday, February 2nd, 2023 Venue: 90095 Meeting Room: Breakout Room: UCLA Luskin Conference Center, 425 Westwood Plaza, Los Angeles, CA Centennial Ballroom Legacy, Exploration, & Illumination 7:30-8:30 AM Network working breakfast: Discussions on PRS in diverse groups (Centennial Foyer) 8:30-8:50 AM 8:50-9:20 AM 9:20-10:50 AM NHGRI Program Introduction | Iman Martin (NHGRI, PRIMED) & Robb Rowley (NHGRI, eMERGE) Network Overview | Eimear Kenny (PRIMED; Mt. Sinai) & Rex Chisholm (eMERGE; Northwestern) Panel:Conceptualizing and assessing PRS performance in diverse groups. Moderators | Anna Lewis (MGB) & Josep Mercader (Broad) Continuous and robust conceptualizations of genetic ancestry in PRS development | Eimear Kenny (Mt. Sinai) Population descriptors, population-specific methods and PRS development | Gen Wojcik (JHU) Approaches to improve the performance of type 2 diabetes polygenic scores in diverse and admixed populations by increasing diversity, sample size of genetic discovery, and coverage of linkage disequilibrium reference panels | Alicia Huerta (Broad) An approach to calibration of population variance in implementation of PRS for diverse populations | Niall Lennon (Broad) Discussion & Q/A Networking break 10:50-11:05 AM 11:05-12:20 PM Workgroup breakout session Phenotyping fidelity & impact PRS Evaluation Cloud resources and data sharing Social, ethical, and policy implications 12:20-1:20 PM Network working lunch: Discussions on joint consortium projects (Centennial Foyer) 1:20-2:35 PM Panel: Translational aspects of PRS. Moderators | Josh Peterson (VUMC) & John Witte (Stanford) Social and ethical considerations for PRS development and application | Megan Shuey (VUMC) Integrating and contextualizing genomic risk with other risk factors | Iftikhar Kullo (Mayo) Threshold for evidence for clinical implementation | Beth Karlson (MGB) Discussion & Q/A 2:35-2:55 PM 2:55-3:00 PM 3:00 PM Joint projects from breakout sessions. Moderators | Clement Adebamowo & Rex Chisholm Closing remarks | Clement Adebamowo (PRIMED; U of Maryland) & Rex Chisholm (Northwestern) Adjourn General Session Meeting ID: 997 7428 5138 Passcode: 881710 Meeting Link: https://zoom.us/j/99774285138?pwd=dVlqTWwzeEJuWVo2ckFEZm53Z3VoUT09&from=addon Dial-In: +1 312 626 6799 or +1 646 558 8656 or +1 301 715 8592 or +1 346 248 7799 or +1 669 900 6833 or +1 253 15 8782 Breakout Meeting ID: See following slide for breakout zoom information
PRIMED & eMERGE Polygenic Risk Scores: Past, Present, & Future Joint Steering Committee Meeting AGENDA Thursday, February 2nd, 2023 Workgroup breakout session 11:05 AM -12:20 PM Title & Zoom Link Affiliated PRIMED WG(s) Affiliated eMERGE WG(s) NIH Program Officer Facilitator Location Phenotype Harmonization (& domain specific sub- WGs) Leslie Lange, Laura Raffield Phenotyping WeiQi Wei, Chunhua Weng; CARE Gail Jarvik, Cindy Prows, Iftikhar Kullo Phenotyping fidelity & impact Iman Martin Ballroom Methods Review (& subWGs) John Witte, Bogdan Pasaniuc PRS Validation & Evaluation Eimear Kenny, Niall Lennon, Leah Kottyan PRS Evaluation Robb Rowley Legacy SEIPR; Population Descriptors sub-WG, Phenotype Harmonization Genevieve Wojcik, Braxton Mitchell Stephanie Gogarten, Peter Kraft, Iain Konigsberg Leslie Lange, Laura Raffield Recruitment, Retention, sIRB & ELSI Digna Velez- Edwards, Ingrid Holm, Wendy Chung Provider Uptake & Outcomes Dave Veenstra, Nita Limdi Social, ethical, and policy implications Rachel Hanisch & Rene Sterling Exploration Genotype Harmonization; Phenotype harmonization; CC data leads Yun Li, Josep Mercader Leslie Lange, Laura Raffield Ben Heavner, Matthew Conomos EHRI (& CDS) Luke Rasmussen, Robert Freimuth, Eta Berner, Emma Perez Cloud resources and data management Chris Wellington Illumination Please see this table of PRIMED and eMERGE Working Group (WG) and sub-WG chairs (name and contact) and brief descriptions.
PRIMED & eMERGE Polygenic Risk Scores: Past, Present, & Future Joint Steering Committee Meeting Zoom Links Thursday, February 2nd, 2023 General Session: Meeting URL: https://zoom.us/j/99774285138?pwd=dVlqTWwzeEJuWVo2ckFEZm53Z3VoUT09&from=addon Meeting ID: 997 7428 5138 Passcode: 881710 Workgroup Breakout Session - Phenotyping fidelity & impact: Meeting URL: https://zoom.us/j/99774285138?pwd=dVlqTWwzeEJuWVo2ckFEZm53Z3VoUT09&from=addon Meeting ID: 997 7428 5138 Passcode: 881710 Workgroup Breakout Session - PRS Evaluation: Meeting URL: https://zoom.us/j/95934746105?pwd=Z2V4UmNac045M1VlaittS3hWblVGZz09 Meeting ID: 959 3474 6105 Passcode:692993 Workgroup Breakout Session - Cloud resources and data sharing: Meeting URL: https://zoom.us/j/99477731297 Meeting ID: 994 7773 1297 Passcode: Workgroup Breakout Session - Social, ethical, and policy implications: Meeting URL: https://zoom.us/j/95300537101?pwd=VXF3cDBXQWV1elVNMVBlRFo5SWFMUT09&from=addon Meeting ID: 953 0053 7101 Passcode: 179421
Consortium Meeting Agenda Thursday, February 2, 2023 Venue: UCLA Luskin Conference Center Meeting Room: Centennial Ballroom 3:00 - 3:15 PM Networking Break 3:15 - 4:00 PM Joint eMERGE/PRIMED Breakout Session Review/Recap | Moderator: Dan Schaid 4:00 - 5:00 PM PRIMED Working Group Updates | WG Co-Chairs | Moderator: Matt Conomos 5:00 - 6:00 PM PRIMED Cross-Site Networking Event | Pitches here | Ballroom Foyer (no virtual option) Friday, February 3, 2023 Venue: Meeting Room: Breakout Room: UCLA Luskin Conference Center Centennial C & D Room Pathways Room 7:00 - 8:00 AM Working Breakfast (Plateia Restaurant) | AnVIL Office Hour | Matt Conomos and Ben Heavner Welcome | Iman Martin on behalf of the NIH PRIMED Team 8:00 - 8:10 AM 8:10 - 9:00 AM Progress on Addressing ESP Report and Recommendations Across Sites & WGs | WG Co- Chairs | Moderator: Eimear Kenny 9:00 - 10:00 AM Population Descriptors and Genetic Ancestry in PRS development and application | Stephanie Gogarten and Meng Lin | Moderator: Loes Olde Loohuis 10:00 - 10:15 AM Networking Break 10:15 - 11:15 AM Considerations for SDOHs in PRS Development for Diverse Populations | Allan Just and Laura Raffield | Moderator: Nancy Cox 11:15 AM - 12:00 PM AnVIL Hands-on Session | Stephanie Gogarten PI Breakout | Moderator: Iman Martin 12:15 - 1:15 PM Working Lunch (Plateia Restaurant) 1:15 PM Adjourn Meeting Goals: Review and develop plans to address ESP feedback and recommendations from the Fall 2022 meeting, including (1) Identify and prioritize potential cross-Consortium collaborative projects and analyses, and establish timelines; (2) Discuss ideas for using genetic ancestry and population descriptors including methodological, social, and ethical considerations; (3) Develop plans for collecting SDOH variables and incorporating them into PRS development and application; and (4) Further develop plans for how the Consortium will manage, share, and utilize data in AnVIL. PRIMED General Session 2/2 and 2/3 Meeting ID: 932 3953 5094 Passcode: 216294 Meeting Link: https://washington.zoom.us/j/93239535094?pwd=dTdVcEtucmFWdDMy ajZSNnhJVUtLZz09 Dial-In: +1 206 337 9723 or +1 253 215 8782 or +1 346 248 7799 PRIMED Breakout Session 2/3 Meeting ID: 953 1344 4349 Passcode: 964018 Meeting Link: https://washington.zoom.us/j/95313444349?pwd=WlpFZGZwYWl2elBve jhTZnp1UXU1UT09 Dial-In: +1 253 215 8782 or +1 206 337 9723 or +1 669 219 2599
