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Population Descriptors for Legacy Genomic Data: Challenges and Future Directions

Event Details

Several National Institutes of Health (NIH) Institutes, Offices, and Centers* partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 

This workshop brought together leaders of genomic data science resources, researchers who use legacy data, and other partners to make recommendations regarding the application of population descriptors to existing data. A meeting report will be written and disseminated publicly. 


Agenda: May 28 | May 29

Workshop Summary Report (PDF)

Workshop Materials

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Virtual

Objectives

The workshop objectives were to:

  • Understand NASEM report recommendations, and consider how they relate to the ongoing use of legacy data; 
  • Summarize current approaches to the use of population descriptors in/for legacy data;   
  • Define challenges with current approaches to harmonization, interoperability and analysis, including genetic similarity;  
  • Address challenges and identify potential solutions;  
  • Develop practical recommendations that can be widely adopted; and 
  • Identify opportunities for future research or collaboration.

For more information, please contact: Lucia Hindorff (hindorffl@mail.nih.gov) or Joannella Morales (joannella.morales@nih.gov).

Day 1: May 28

All times listed in ET.

1:00 - 1:05 PM - Welcome
Lucia Hindorff and Joannella Morales
National Human Genome Research Institute

Video

1:05 - 1:15 PM - Talk: Workshop Purpose and Objectives
Moderator: Lucia Hindorff
Speakers:  
Vence Bonham, National Human Genome Research Institute
Sheri Schully, All of Us Research Program

Video

1:15 - 1:35 PM - Talk: Population Descriptors in Genomic Legacy Data
Moderator: Joannella Morales
Speakers: Workshop Co-Chairs
Melissa Davis, Morehouse School of Medicine 
Malia Fullerton, University of Washington

Video

1:35 - 1:55 PM - Talk: Introduction to the NASEM Report: Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field
Moderator: Ebony Madden
Speaker: Genevieve Wojcik, Johns Hopkins Bloomberg School of Public Health

Video NASEM Report

1:55 - 2:25 PM - Talk: Lessons learned from the All of Us Research Program
Moderator: Leah Mechanic
Speakers:
Anjené Musick, All of Us Research Program
Eric Boerwinkle, UTHealth Houston School of Public Health

Video

2:25 - 2:35 PM - Break

2:35 - 2:40 PM - Instructions for Breakout Groups
Lucia Hindorff

Video

2:40 - 3:25 PM - Panel: Current challenges related to population descriptors in select contexts
Moderator: Jonathan King
Panelists:
Charles Rotimi, National Human Genome Research Institute
Kyle Brothers, University of Louisville
Katherine Chao: Broad Institute

Video

3:25 - 4:10 PM - Breakout Groups: Additional challenges related to population descriptors in genomic legacy data
Moderated Discussion
Moderator: Lucia Hindorff
 

Breakout Groups Document

4:10 - 4:50 PM - Large Group Discussion: Breakout Groups Report Back 
Moderator: Lucia Hindorff

Video

4:50 - 5:00 PM - End of Day 1 Check-In
Speakers: Workshop Co-Chairs
Melissa Davis, Morehouse School of Medicine 
Malia Fullerton, University of Washington

Video

Day 2: May 29

11:00 - 11:05 AM - Welcome and Breakout Group Instructions
Moderator: Joannella Morales

Video

11:05 - 11:25 AM - Talk: Population Inferences and Genetic Similarity
Moderator: Liz Gillanders
Speaker: Peter Kraft, National Cancer Institute

Video

11:25 - 12:00 PM - Panel: Addressing challenges related to harmonization and interoperability of legacy genomic data
Moderator: Cheryl Jacobs
Speakers:
Karen Miga, University of California, Santa Cruz
John Witte, Stanford University

Video

12:00 - 12:10 PM - Break

12:10 - 12:30 - Talk: Adapting the NASEM Report framework to legacy data
Moderator: Christina Daulton
Speakers: 
John Novembre**, University of Chicago
Genevieve Wojcik, Johns Hopkins Bloomberg School of Public Health

** John Novembre was unable to present at this time and his talk recorded after the workshop on June 18, 2024. Genevieve Wojcik presented in his place.

Video (Wojcik) Video (Novembre)

12:30 - 1:15 PM - Breakout Groups: Adapting the NASEM Report framework to legacy data through the lens of distinct use cases
Moderated Discussion
Moderator: Joannella Morales

Breakout Groups Document

1:15 - 1:55 PM - Large Group Discussion: Breakout Groups Report Back 
Moderator: Joannella Morales

Video

1:55 - 2:05 PM - Break

2:05 - 3:00 PM - Summary of Workshop / Recommendations and Discussions
Speakers: Workshop Co-chairs
Melissa Davis, Morehouse School of Medicine 
Malia Fullerton, University of Washington

Video

*Participating NIH Institutes, Centers and Offices

All of Us Research Program
National Cancer Institute
National Human Genome Research Institute
National Institute on Aging
National Institute of Child Health and Human Development
National Institute of Diabetes and Digestive and Kidney Diseases
National Institute of Environmental Health Sciences
National Institute of Nursing Research
Office of Behavioral and Social Sciences Research 
Office of Science Policy

Request an Accommodation

Sign language interpreting and CART services are available upon request to participate in this event. Individuals needing either of these services and/or other reasonable accommodations should contact Britny Kish at britny.kish@nih.gov, 240-381-1283. Requests should be made at least five days in advance. To access Telecommunications Relay Services (TRS), call 711. 

Last updated: September 5, 2024