Genomic Medicine XII: Genomics and Risk Prediction
Event Details
On May 6-7, 2019, the National Human Genome Research Institute (NHGRI) sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction.
The objectives of the meeting were:
- Review the state of science of polygenic risk scores and how it can be improved
- Examine other information sources that should be integrated with genetic variant information in predicting risk
- Identify research directions in development and implementation of genomic risk prediction
Summaries
Sheraton Silver Spring
Silver Spring, Maryland
Agenda
-
Monday, May 6, 2019
- 8:30 a.m. Welcome and Introductions
Teri Manolio, Dan Roden
Video (Roden) - Video (Manolio) - Slides - Session 1: Risk prediction with and without genomics
(Moderator: Teri Manolio) - 8:50 a.m. Risk prediction in the Framingham Heart Study
Adrienne Cupples
Video - Slides - 9:20 a.m. Development and application of polygenic risk scores (PRS)
Eric Boerwinkle
Video - Slides - 9:50 a.m. Risk prediction in non-European Ancestry (EA) populations
Olufunmilayo Olopade
Video - Slides - 10:20 a.m. Break
- 10:40 a.m. Current state of risk prediction literature
Genevive Wojcik
Video - Slides - 11:00 a.m. Discussion
Video - Session 2: Using informatics and electronic health record (EHR) data in risk prediction
(includes lunch)
(Moderator: Dan Roden) - 11:50 a.m. Phenotype risk scores (PheRS) for risk prediction
Josh Denny
Video - Slides - 12:10 p.m. Clinical machine learning for risk prediction
Mark Craven
Video - Slides - 12:30 p.m. Lunch
- 1:00 p.m. Predicting risk from multiple Observational Health Data Sciences (OHDSI) databases
George Hripsak
Video - Slides - 1:20 p.m. Family history risk predictions from the electronic medical records (EMR)
Nicholas Tatonetti
Video - Slides - 1:40 p.m. Discussion
Video - Session 3: Choosing the best models - lessons from diverse complex diseases
(Moderator: Mary Relling) - 2:20 p.m. Breast Cancer
Montserrat García-Closas
Video - Slides - 2:40 p.m. Schizophrenia
Naomi Wray
Video - Slides - 3:00 p.m. Atrial fibrillation
Patrick Ellinor
Video - Slides - 3:20 p.m. Genomic risk through the lifespan
Amit Khera
Video - Slides - 3:40 p.m. Discussion
Video - 4:20 p.m. Break
- 4:40 p.m. Debate: Genomic information is essential to clinical assessment of complex disease risk (Moderator: Howard McLeod)
Pro: Stephen Chanock
Con: Isaac Kohane
Video - Slides (Chanock)
Video - Slides (Kohane) - 5:30 p.m. Discussion
Video - 6:00 p.m. Adjourn
-
Tuesday, May 7, 2019
- Session 4: Other 'omic data
(Moderator: Pat Deverka) - 8:30 a.m. Metabolomics
Robert Gerszten
Video - 8:50 a.m. Expression Data
Nancy Cox
Video - Slides - 9:10 a.m. Epigenetics
Myriam Fornage
Video - Slides - 9:30 a.m. Environmental exposures
Peter Kraft
Video - Slides - 9:50 a.m. Discussion
Video - 10:30 a.m. Break
- 11:00 a.m. Panel: Do we need a clinical trial of genomic risk prediction? If so, what should it test, in whom, and with what outcomes? What do we need to know before planning such a trial?
(Moderator: Howard McLeod)
Muin Khoury
Alicia Martin
George Mensah
Gina Peloso
David Valle
Video - Combined Slides - 12:30 p.m. Lunch
- 1:00 p.m. Research directions
(Moderator: Marc Williams)Discussion involving all participants to address questions from the sessions to date, such as:
- What are the critical knowledge gaps?
- What impact do age and other factors have on the clinical value of genomic risk prediction?
- How should other risk factors, such as clinical characteristics, environmental factors, and family history, be integrated with genomic risk prediction?
- How and in what contexts should genomic risk prediction be implemented?
- What thresholds of disease risk or actionability should be considered for implementation?
- Should genomic risk predictors be assessed for protective effects (i.e., low risk) and should that information be used to modify preventive health recommendations? If so, at what thresholds?
Video - Slides - 2:00 p.m. Summary and Next Steps
Teri Manolio, Dan Roden
Video - Slides - 3:00 p.m. Adjourn
Additional Resources
Last updated: May 6, 2019