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Genomic Medicine XV: Genomics and Population Screening

Event Details

On November 8-9, 2023, the National Human Genome Research Institute (NHGRI) will sponsor its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.

This meeting will discuss 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 are 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.)

Request an Accommodation

General Registration (Deadline: October 3, 2023)

Hotel Booking (Deadline: October 12, 2023)

All times are in ET.


Hyatt Regency Bethesda and Virtual

Zoom Webinar (Registration Required)

Wednesday, November 8

9:00 a.m. - Welcome and Introductions

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
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
Mike Murray

  • Principles of screening studies
  • Differences between genetic/genomic screening and “non-genetic” population screening
  • Differences between molecular findings and clinical diagnosis


10:45 a.m. - Break

11:05 a.m. - Session 2: Genomic screening technologies
Moderators: Jeff Brosco, Erin Ramos

Nuts and bolts: biospecimens, genotyping/sequencing approaches, analysis
Christine Eng

State-based genetic health screening programs
Robert Currier

Impact of variant-level thresholds (clinical sensitivity/specificity) and individual-level factors (incomplete penetrance, variable expressivity, pleiotropy), on monogenic screening interpretation
Jonathan Berg


12:35 p.m. - Lunch

1:20 p.m. - Session 3: Logistics of population screening
Moderators: Carol Bult, To be confirmed

Who conducts and manages results: primary/specialty care, health dept, DTC
Mylynda Massart

Whom to screen, particularly changing needs across lifespan
To be confirmed

Screening needs and challenges in genetically diverse populations underrepresented in genomic databases
Faith Fletcher

Workforce needs and education of patients/providers
Kelly East


3:05 p.m. - Break

3:25 p.m. - Session 4: Community engagement and population genomic screening
Moderators: Rex Chisholm, George Mensah

Goals of community engagement related to genomic screening
Vanessa Hiratsuka

Meaningful strategies for community engagement
To be confirmed

Concerns of communities, especially genetically diverse or underserved/under-represented persons, persons with disabilities, persons with strong family histories
To be confirmed

Panel on criteria that make conditions good targets for screening, what need to know about conditions to nominate them for screening (related ClinGen panel), more than actionability
Caitlin Allen, Ned Calonge, Jessica Hunter, Bob McNellis


5:10 p.m. - Adjourn Day 1

Thursday, November 9

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


Added value of genomic screening—effectiveness and availability of interventions, value from patient perspective
Marc Williams

Cost-effectiveness of screening
David Veenstra

Evidence of uptake and action in response to screening programs
Bruce Korf

Clinical experience with screening; APOL1 and TTR as examples
Carol Horowitz

10:25 a.m. - Break

10:45 a.m. - Session 6: Obstacles to screening
Moderators: Gillian Hooker, Dan Rader

Who pays for screening? Who pays for interventions? How does that inform questions about what to screen for? How could it impact issues of societal justice?
Michael Hultner

Informatics needs including patient access, transportability of results
Robert Freimuth

Health informatics challenges of following up genomic screening results, longitudinal data collection
Kate Nathanson

Family/community engagement as a cornerstone of implementation
To be confirmed


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
To be confirmed

Research on testing phase: what tests to recommend, how to obtain, provide results (consider focusing on specific examples such as HBOC, FH, LS, TTR)
Heidi Rehm

Research in follow-up to testing: uptake of interventions, cascade testing, transportability throughout lifespan
Bruce Korf


1:45 p.m. - Summary and Next Steps
Gail Jarvik and Teri Manolio

2:15 p.m. - Adjourn Day 2

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 29, 2023