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Defining a Clinical Data Ecosystem for Genomic Health

Event Details

On April 10-11, the National Human Genome Research Institute (NHGRI) will sponsor a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.

In the future, it is likely that genetic testing will consist of one genetic test that can be used longitudinally in patient care — that is, whole genome sequencing — rather than many different orderable panels. This data could be accessible at point of care, leading to identification of patients whose treatments could change due to their genetic profiles (such as the use different pharmaceuticals, gene-based therapeutics, and preventive strategies) as well as real-time genetic diagnosis. This data could also lead to differences in reproductive decision-making as well as facilitate disease risk modeling and population health genomics.

Ideally, this genomic information would travel with the patient and the clinical use of it achieved through bioinformatics systems, enabling inexpensive and rapid utilization of genomic data. For example, advanced clinical decision support systems (CDSS) could leverage genomic data to enhance care and could be extended through the use of wearable technology. Artificial intelligence models could predict and adjust a patient’s health trajectory towards optimal outcomes.

This vision holds promise, but there is currently no data ecosystem in place to support such an endeavor. Thus, the goal of this workshop is to identify clinical informatics needs for enabling large-scale utilization of genomic sequence data in delivery of genomic healthcare and examine research that could address these needs. 

Printable Agenda

Agenda: April 10 | April 11

Request an Accommodation


Hybrid: Virtual and In-Person

The LINE DC Hotel

Video Recordings

Coming Soon


The objectives of this meeting are to:

  • Define data ecosystem outlining current and optimal paths of genomic data from lab to EHR to patient/clinician and across health systems
  • Determine informatics standards to be adopted, systems to be built, policies to be developed 
  • Identify research directions for optimizing genomic data integration and utilization in delivery of healthcare

April 10

8:00 - 8:30 AM: Breakfast

8:30 – 9:15 AM: Introduction 

Overview of the Current Issue and Objective
Nephi Walton

Open the Genome to All
Laura Duque Lasio

Chief Medical Information (CMIO) perspective
Kevin O'Bryan

9:15 - 10:45 AM: Real World Genomic Data in Clinical Care 

Germline Mendelian Disease Data
Ian Campbell

Systematic Review of Genomic Clinical Decision Support
Darren Johnson

Pharmacogenomics Data / External Systems
Mark Dunnenberger 

Informatics Challenges Open Discussion
Moderator: Travis Osterman

10:45 - 11:05 AM: Morning Break 

11:05 AM - 12:50 PM: Real Time and Rapid Genetic Diagnosis

Real-Time Genetic Diagnosis at the Point of Care
Marc Williams

Expanding Rapid NICU Sequencing
Luca Brunelli 

Rapid NICU Sequencing Infrastructure
Valerie Willis 

Implementation Challenges Open Discussion
Moderator: Ken Wiley 

12:50 - 1:20 PM: Working Lunch 

1:20 - 3:00 PM: AI and Polygenic Risk Scores

Data Availability
Iftikhar Kullo

FHIR Genomics Operations
Bob Dolin

Maximizing Genomic Clinical Utility: Context and Learning
Pradeep Natarajan

Implementation Challenges Open Discussion
Moderator: Josh Peterson

3:00 - 3:20 PM: Break 

3:20 – 4:50 PM: Delivering Genomics Information to Patients and Providers 

Primary Care Perspective
Sharice Wood

Chatbots for Patient Outreach, Education, and Access to Genetic Testing
Guilherme Del Fiol 

Implementation of Genomic Information Resources
Casey Overby Taylor

Implementation Challenges Open Discussion
Moderators: Alana Rahm and Juliann Savatt

4:50 - 5:00 PM: Closing Remarks

5:00 PM: Adjournment

April 11

8:00 - 8:30 AM: Breakfast

8:30 – 9:45 AM: Models for Genomic Data Sharing

Brief Day One Recap
John David Nolen

ACMG Points to Consider: Designated Record Set
Marc Williams

Models for Data Sharing
Bret Heale 

Is PACS a Model for FHIR Genomics?
Srikar Chamala 

Group Discussion
Moderator: John David Nolen

9:45 - 10:05 AM: Morning Break

10:05 - 11:50 AM: Model Design Workshop
Moderator: Bret Heale

11:50 AM - 12:20 PM: Working Lunch 

12:20 - 1:05 PM: Evaluating the Model: Data and Technical Standards

Group Discussion Moderators
Robert Freimuth and Robert Carroll

1:05 - 1:50 PM: Evaluating the Model: Governance, Legal, and Ethical Challenges 

Group Discussion Moderators
Jorge Contreras, Kevin O’Bryan and Casey Overby Taylor

1:20 - 245 PM: Evaluating the Model: Sustainability

Group Discussion Moderators
Michael Murray, Kevin O’Bryan and Bryce Christensen 

2:45 - 3:20 PM: Path Forward and Action Plans

Synthesis of Key Points from Discussions
Nephi Walton

Setting Priorities: Identifying the Most Critical Barriers
Nephi Walton

Closing Remarks and Future Collaboration
Nephi Walton

3:20 PM: Adjournment

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: April 11, 2024