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Genomic Screening Research to Improve Health through the Lifespan: A Focus on Pediatric Participants

15 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 701
Research Methods
  • Accredited:
    • Accredited
  • Level of Learner:
    • Intermediate
Increased focus on research throughout the lifespan, including pediatrics, is needed to advance genomic implementation in clinical settings. Several NIH-funded Networks, Consortia, U-grants, and R-grants have engaged individuals through the lifespan in research to understand how genomics can be integrated into clinical care, with primary focus on screening or diagnostics. In this session we discuss the many challenges and lessons learned that can inform the design of future studies that implement genomic screening with the intent to improve health across the lifespan. 

We briefly highlight the aims, challenges encountered, and adaptations made to assess multi-site outcomes in 3 NIH-funded U-grants, the electronic MEdical Records and GEnomics (eMERGE) Network, the Clinical Sequencing Evidence-Generating Research (CSER) and the NSIGHT Program; an R-grant focused on adolescent decision making about learning genomic screening results; and the All of Us Research Program. Each phase of eMERGE (II, III, and IV) implemented a cross-site protocol and enrolled a new set of child and adult participants, implemented a different genomic test, and measured a unique set of process outcomes 6 and 12 months post return of results (RoR) specific to the genetic test implemented in that phase. On the other hand, each CSER Consortium site had its own implementation protocol, study population, genetic testing strategy, and outcomes. The goal of the NSIGHT program was to study how genomic sequencing could be integrated into newborn screening, with each of the 4 sites having their own study, and leading to challenges integrating data across the sites. The study focused on adolescent decision-making and responses to learning results based on their choices began as an eMERGE III sub-study and expanded as an R01 to include a more diverse group of adolescents and a wider age span (13 – 21 years). The findings of this study will be important in planning longitudinal genomic screening studies that enroll children and measure outcomes into their adult years, as in the All of Us Research Program. The All of Us Research Program will enroll over 1 million individuals of all ages to develop a large database of diverse participants and data for future research, with the potential to return genetic results to participants. Although All of Us began enrolling adults, a current focus is to support pediatric participation; as a longitudinal study, All of Us will need to carefully consider the transitions within childhood and to adulthood to enroll and retain all ages of participants in an ethical manner and has the opportunity to implement lessons learned from prior pediatric and adult studies. 

Genomic implementation studies that employ a lifespan perspective are challenging but past and current studies provide insight to inform future study designs and outcome measures that can advance evidence based genomic informed clinical practice.


Learning Objectives

  1. Identify challenges and solutions in single implementation research protocols with pediatric and adult participants
  2. Evaluate pros and cons of conducting genomic screening research within consortia of dissimilar studies working together
  3. Identify issues and solutions when implementing sequencing into Newborn Screening
  4. Identify pros and cons of genomic screening research focused on adolescent decision-making
  5. Discuss anticipated issues and solutions for All of Us Research Program Pediatric Supplemental Protocol


  • Cynthia A. Prows, MSN, APRN
    Moderator: Rationale for Including Pediatric Participants in Genomic Screening Research
    3:30 PM – 3:35 PM
  • Margaret H. Harr, MS LCGC
    eMERGE Network: When Interventions and Outcome Measures in Adults and Children are the Same
    3:35 PM – 3:50 PM
  • Kyle B. Brothers, MD, PhD
    CSER Consortium: Individual Site Projects and Outcome Measures
    3:50 PM – 4:05 PM
  • Ingrid A. Holm, MD, MPH, FACMG, FAAP
    NSIGHT: Integrating Data from Studies of Genomic Sequencing in Newborn Screening
    4:05 PM – 4:20 PM
  • Melanie F.. Myers, PhD, MS
    Genomic Screening in Adolescents: From eMERGE III to a Single Site Study - Lessons Learned
    4:20 PM – 4:35 PM
  • Sara L.. Van Driest, MD, PhD
    Incorporating Lessons Learned into a Longitudinal Observational Study: All of Us Pediatric Protocol
    4:35 PM – 4:50 PM
  • Panel Discussion
    Panel Discussion and Q&A
    4:50 PM – 5:00 PM