Genomic Medicine XV: Genomics and Population Screening
Event Details
On November 8-9, 2023, the National Human Genome Research Institute (NHGRI) sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
This meeting discussed the current state of population genomic screening in the U.S., as well as barriers and opportunities for expanded population screening, impact on clinical practice and outcomes, various genomic screening technologies and costs, and evidence gaps that may inform future research directions.
The objectives of the meeting were to:
- Review the current state of population genomic screening in the US
- Examine obstacles and opportunities for expanded screening and available evidence of the impact of screening on outcomes and cost
- Identify research directions to inform expanded screening as appropriate
- Variants and conditions to be screened for
- Populations to screen, including appropriate ages and other characteristics
- Role of community engagement
- Providers to order screening and manage results (primary care, specialty care, health department, etc.)
Executive Summary (PDF)
Meeting Summary (PDF)
Meeting Questions and Comments
Printable Meeting Agenda (PDF)
Browse Agenda by Day: November 8 | November 9
All times are in ET.
Hyatt Regency Bethesda and Virtual
Recorded Videos
View videos in YouTube Playlist: Genomic Medicine XV: Genomics and Population Screening
Wednesday, November 8
8:30 a.m. - Breakfast
9:00 a.m. - Welcome and Introductions
Goals of Genomic Medicine XV
Gail Jarvik
Structure, Goals, and Products of Prior NHGRI Genomic Medicine meetings
Teri Manolio
9:15 a.m. - Session 1: Laying the Groundwork
Moderators: Eric Green, Marc Williams
Keynote 1: Genomic Screening and the Reverend Bayes
Leslie Biesecker
- Principles of screening studies
- Differences between genetic/genomic screening and “non-genetic” population screening
- Differences between molecular findings and clinical diagnosis
Keynote 2: Genomic Screening: Who is Ready?
Mike Murray
- Current state of genomic screening: newborn screening, NIPT, pre-conceptual carrier screening, adult screening programs, polygenic risk scores
- ACMG working group charge/report
Discussion
10:45 a.m. - Break
11:05 a.m. - Session 2: Genomic screening technologies
Moderators: Jeff Brosco, Erin Ramos
Technical and Logistical Approaches to Genomic Screening
Christine Eng
Considering the factors involved in calculating the “number needed” in genomic screening
Jonathan Berg
Discussion
12:35 p.m. - Lunch
1:20 p.m. - Session 3: Logistics of population screening
Moderators: Carol Bult
Opening the Flood Gate of Results, are we ready, and how will we handle this in Health Care?
Mylynda Massart
Whom to screen when and how
Peter Kraft
Addressing the challenges of genomic screening in populations underrepresented in genomic databases
April Adams
Provider training and patient education: needs and opportunities
Kelly East
Discussion
3:05 p.m. - Break
3:25 p.m. - Session 4: Community engagement and population genomic screening
Moderators: Rex Chisholm, George Mensah
American Indian/Alaska Native Community Engagement Preferences and Tribal Code Requirements
Vanessa Hiratsuka
Opportunities for Meaningful Indigenous Community Engagement for Population Genomic Screening
Krystal Tsosie
Advancing Genomic Research through Community Engagement: The All of Us Research Program
Minnkyong Lee
Panel: Selecting conditions for screening
Caitlin Allen, Ned Calonge, Jessica Hunter, Bob McNellis
Discussion
5:10 p.m. - Adjourn Day 1
Thursday, November 9
8:00 a.m. - Breakfast
8:30 a.m. - Welcome
Day 1 Recap
Gail Jarvik and Teri Manolio
8:40 a.m. - Session 5: Evidence needed to support screening
Moderators: Pat Deverka, Dan Roden
The Value Proposition for Population Genomic Screening
Marc Williams
Cost-effectiveness of population genomic screening
David Veenstra
Uptake and Follow-up on Population Genomic Screening: Experience in the Alabama Genomic Health Initiative
Bruce Korf
APOL1 Screening: Opportunities, Lessons Learned and Evidence to Support Screening
Carol Horowitz
10:25 a.m. - Break
10:45 a.m. - Session 6: Obstacles to screening
Moderators: Gillian Hooker, Dan Rader
Why are payers reluctant to cover genetic screening tests?
Michael Hultner
Why is sharing genomic data so challenging?
Robert Freimuth
How do we integrate genomic medicine into the EHR?
Kate Nathanson
Why is it so hard to see health benefits from genetic screening?
Alanna Rahm
Discussion
12:30 p.m. - Break to grab lunches
12:45 p.m. - Research Directions
Gail Jarvik and Teri Manolio
Research on pre-testing phase: getting providers and patients/public to take up testing
Marc Williams
Research on testing phase: what tests to recommend, how are they offered and what types of results are provided
Heidi Rehm
Research in follow-up to testing: uptake of interventions, cascade testing, transportability throughout lifespan
Bruce Korf
Discussion
1:45 p.m. - Summary and Next Steps
Gail Jarvik and Teri Manolio
2:15 p.m. - Adjourn Day 2
Last updated: December 18, 2023