American Society of Human Genetics (ASHG) Annual Conference Invited Workshop Session: Global Resources for Precision Medicine

Friday, October 22, 2021 3:30–5:00 p.m. ET
Location: Virtual Event

Conference Registration for ASHG 2021 Virtual Meeting

Submit your questions to our featured speakers in advance of the workshop here: ASHG2021@nih.gov

 

 

AGENDA

Opening Remarks

  • Joshua C. Denny, M.D., M.S.
    Chief Executive Officer, All of Us Research Program, National Institutes of Health

  • Latrice Landry, Ph.D.
    Genomic Medicine Fellow, Harvard Medical School and Harvard School of Public Health

Diversity and Scale in Precision Medicine Research

  • Joshua C. Denny, M.D., M.S.
    Chief Executive Officer, All of Us Research Program, National Institutes of Health

UK Biobank in 2021 and Beyond

  • Naomi Allen, M.D., Ph.D.
    Chief Scientist, UK Biobank

The IHCC Experience: Bringing Cohorts Data Together to Advance Precision Health Research Around the Globe

  • Laura Lyman Rodriguez, Ph.D.
    Interim Chief Program Support Officer and Senior Advisor to the Executive Director, Patient-Centered Outcomes Research Institute

GA4GH Standards to Enable Global Access and Interoperability of Data to Inform Precision Health

  • Heidi Rehm, Ph.D., FACMG
    Chief Genomics Officer, Department of Medicine, Massachusetts General Hospital; Professor of Pathology, Massachusetts General Hospital, Brigham and Women’s Hospital, and Harvard Medical School; and Medical Director, Broad Institute Clinical Research Sequencing Platform

Interactive Q&A with Panelists and Conference Attendees

 

Diversity and Scale in Precision Medicine Research
Joshua C. Denny, M.D., M.S.
ABSTRACT: The All of Us Research Program (AoURP) is building a national research cohort of one million or more participants with rich diversity, particularly those underrepresented in biomedical research (over 80% of participants represent populations historically underrepresented in biomedical research). More than 404,000 have consented, and more than 294,000 participants have completed all core aspects of the program. AoURP has recently begun generating genotyping and whole genome sequencing data for return of genetic ancestry and trait results to participants, with 97% expressing a desire to receive their results. Since launching the Genetics Engagement Module (GEM) in December 2020, AoURP has notified thousands of participants about receiving their genetic ancestry and trait results (72% response rate). GEM provides AoURP participants with genetic principles education while reinforcing engagement with the program in preparation for the return of health-related genetic results. To responsibly return genetic results, AoURP provides access to genetic counselors to help answer questions from participants and their health care providers through a network of awardees nationwide, including Color Genomics and a set of leading genome centers to generate the genetic data: Baylor College of Medicine, the Broad Institute, and the Northwest Genomics Center at the University of Washington. AoURP is taking a phased approach to the return of additional genetic results over time, including plans in 2021 to begin offering participants the option to receive information about how their DNA may affect their body’s response to certain types of medicines (pharmacogenetics),and about genetic variants associated with an increased risk of certain diseases, based on American College of Medical Genetics and Genomics guidelines. Participants will receive information as their DNA samples are processed. AoURP also plans to begin making these genetic data available to researchers in late 2021, with strict privacy and security safeguards in place to protect participants’ information. At ASHG, AoURP will present results and initial findings from genomic associations’ demonstration projects and include replications of expected genetic findings across diverse ancestries. Program efforts to enable research on COVID-19 etiology also will be described. Finally, we plans to engage researchers from diverse backgrounds to undertake a wide range of studies and learn more about how to tailor care to people’s different needs will be discussed.

UK Biobank in 2021 and Beyond
Naomi Allen, M.D., Ph.D.
ABSTRACT: UK Biobank is a large-scale biomedical database and research resource, containing in-depth genetic and health information from half a million UK participants. The database is regularly augmented with additional data and is globally accessible to approved researchers undertaking vital research into the most common and life-threatening diseases. Results from UK Biobank’s studies about better understanding COVID-19 will be shown during the session, as will plans for major expansion in data and new researcher capabilities.

The IHCC Experience: Bringing Cohorts Data Together to Advance Precision Health Research Around the Globe 
Laura Lyman Rodriguez, Ph.D.
ABSTRACT: The International HundredK+ Cohorts Consortium is creating a global platform for translational research to inform the biological and genetic basis for disease and improve clinical care and population health. As of May 2020, IHCC had more than 100 member cohorts from more than 40 countries, involving nearly 50 million participants. To enable large-scale data sharing and analyses, a common data atlas has been developed to promote data harmonization and interoperability across cohorts. Methods and progress to populate this registry and to design and implement user functionalities to identify cohort data within IHCC that is relevant to specific research questions and to integrate semi-automated tools into the registry to enable importation of data dictionaries and the mapping of variables across cohorts will be demonstrated during this session. In addition, IHCC has launched eight studies on a range of diseases and conditions important to global health, including obesity, mental health, opioid use, and the COVID-19 pandemic. Preliminary study results from early trans-IHCC Scientific Projects will be shared, inclusive of polygenic risk score analyses, which focus on several areas posing significant global public health threats, and data emerging from studies examining metabolomic biomarker measures across diverse ancestries. Finally, efforts to define and improve standards for biospecimen collection for longitudinal population studies across different global scenarios will be discussed, and data collected from IHCC members regarding existing cohort data access and collaboration policies relevant to specific data types (e.g., health, genomic, environmental) at both the aggregate and individual level will be detailed.

Standards to Enable Global Access and Interoperability of Data to Inform Precision Health
Heidi Rehm, Ph.D., FACMG
ABSTRACT: The Global Alliance for Genomics and Health (GA4GH) was established to set policies and technical standards to enable responsible genomic data sharing within a human rights framework. With more than 600 organizational members—including 24 world-leading Driver Projects—the GA4GH community includes nationally funded clinical genomics initiatives, large-scale cohorts, disease-focused research, life sciences infrastructure, and more. Together, these groups are creating the structures necessary to move from local studies of human genomics to a global scale, inclusive of all populations and communities. To date, GA4GH has produced nearly two dozen interoperable technical standards in the areas of cloud computing, data use and researcher identity, large-scale genomics, discovery, and more. In addition, the GA4GH regulatory ethics work stream has produced 12 policy frameworks and published more than 60 papers that serve as guidance for the international community in developing responsible approaches to data sharing. This session will include presentations on a subset of these standards, with a focus on supporting interoperable human genomic and phenotypic data exchange across the world.