2022 Agenda
Thursday, September 8, 2022 (Evening)
1:00 p.m. – 7:30 p.m.
Hospitality Desk
Indigo West Foyer
5:00 p.m. – 5:10 p.m.
Welcome
Session I: New Technologies and Broad Perspectives in Genomic Medicine (Eric Green, National Human Genome Research Institute and Michael Talkowski, Massachusetts General Hospital and Broad Institute Chairs)
Indigo Ballroom CDGH
5:10 p.m. – 5:45 p.m.
Stephen Kingsmore
President/CEO of Rady Children’s Institute for Genomic Medicine
“BeginNGS the end of the diagnostic (and therapeutic odyssey)”
5:45 p.m. – 6:20 p.m.
Diana Bianchi
National Institute of Child Health and Human Development (NICHD) and National Human Genome Research Institute (NHGRI)
“Prenatal precision medicine: The earlier the better for mom and baby”
6:20 p.m. – 6:55 p.m.
Daniel MacArthur
Center for Population Genomics, Garvan Institute of Medical Research
“Towards equitable genomic medicine”
6:55 p.m. – 7:15 p.m.
Emily Mrig (Abstract Selected)
University of California San Francisco
“When covering and discovering are at odds: How the logic of health insurance undercuts the promise of precision medicine for people with hereditary cancer risks”
7:15 p.m. – 10:00 p.m.
Welcome Reception
Promenade Plaza
Friday, September 9, 2022 (Morning)
7:30 am – 9:00 am
Breakfast
Indigo Terrace
8:00 am – 6:00 pm
Hospitality Desk
Indigo West Foyer
Session II: Genomic Medicine I: Prenatal Diagnostics (Wendy Chung, Columbia University and Diana Bianchi, NICHD, Chairs)
Indigo Ballroom CDGH
9:00 a.m. – 9:25 a.m.
Ronald Wapner Columbia University Irving Medical Center
“Fetal sequencing of congenital anomalies: The need for clinical laboratory collaboration”
9:25 a.m. – 9:50 a.m.
Christopher Barnett
Women’s and Children’s Hospital, Australia
“Slow, slow, quick, quick, slow: Genomic testing and research follow-up turnaround times affect both clinical yield and utility in genomic autopsy of pregnancy loss and perinatal death”
9:50 a.m. – 10:15 a.m.
Gretchen Bandoli
University of California, San Diego
“Advancing scientific approaches through administrative data”
10:15 a.m. – 10:35 a.m.
Harrison Brand (Abstract Selected) Massachusetts General Hospital
“A comprehensive and non-invasive fetal screen of all coding variation”
10:35 a.m. – 11:05 a.m.
Coffee Break/Exhibit Hall
Indigo Ballroom ABEF
Session III: Panel Session: Economic Barriers and Predictive Value to Genome Sequencing in Precision Medicine (Kathryn Phillips, University of California San Francisco, Chair)
Indigo Ballroom CDGH
11:05 a.m. – 12 p.m.
Ryan Taft
Illumina
Keith Yamamoto
UCSF
Sharon Terry
Genetic Alliance
Friday, September 9, 2022 (Afternoon)
12:00 p.m. – 1:10 p.m.
AGBT Lunch
Indigo Terrace
1:15 p.m. – 2:00 p.m.
Sponsor Workshops
Indigo Ballroom CDGH
1:15 p.m. – 1:40 p.m.
Diamond Sponsor – DNA Script
Chris Barbazette and John Lesnick
“Develop genetic testing assays faster by printing the needed oligos at your benchtop”
1:40 p.m. – 2:00 p.m.
Emerald Sponsor – FABRIC Genomics
Heidi Rehm, Ph.D.
Broad Institute Member, Co-director of the Program in Medical and Population Genetics
Diana M. Toledo, Ph. D., MS, CGD
Associate Lab Director – Clinical Research Sequencing Platform, Broad Genomics
“A validation study of whole genome sequencing using Fabric Genomics AI-based Platforms ACE and GEM at the Broad Institute’s Clinical Laboratory”
Session IV: Genomic Medicine II – Rare Disease and Public Health Initiatives (Professor Dame Sue Hill, NHS England and Howard Mcleod, Precision Health, Intermountain Healthcare, Chairs)
Indigo Ballroom CDGH
2:00 p.m. – 2:30 p.m.
Euan Ashley
Stanford University
“The whole genome in precision health”
2:30 p.m. – 3:00 p.m.
Sharon Terry
President and CEO of Genetic Alliance
“iHope genetic health: diagnosing the world’s undiagnosed”
3:00 p.m. – 3:20 p.m.
Bruce Korf (Abstract Selected)
University of Alabama, Birmingham
“The Alabama Genomic Health Initiative: Five years In”
3:20 p.m.- 5:20 p.m.
Poster Session & Exhibit Hall, Wine and Cheese Reception
Indigo Ballroom ABEF
6:30 p.m. – 9:00 p.m.
AGBT dinner
Promenade Plaza
Saturday, September 10, 2022 (Morning)
7:30 am – 9:00 am
Breakfast
Indigo Terrace
8:00 am – 6:00 pm
Hospitality Desk
Indigo West Foyer
Session V: Advances in Genome Biology (Heidi Rehm, Massachusetts General Hospital and Broad Institute and Len Pennacchio, Lawrence Berkeley National Laboratory, DOE Joint Genome Institute, Chairs)
Indigo Ballroom CDGH
9:00 a.m. – 9:30 a.m.
Kelly Frazer
University of California San Diego
“Leveraging iPSCORE – Fine-mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease”
9:30 a.m. – 10:00 a.m.
Stephen Montgomery
Stanford University
“Interpreting rare variants in common and rare genetic diseases”
10:00 a.m. – 10:20 a.m.
Caralynn Wilczewski (Abstract Selected)
National Human Genome Research Institute
“Genotype first: Clinical genomics research through a reverse phenotyping approach”
10:20 a.m. – 10:55 a.m.
Coffee Break & Exhibit Hall
Indigo Ballroom ABEF
11:00 a.m. – 12:00 p.m.
Fireside Chat: Patient stories (Stephen Kingsmore, Rady Children’s Hospital, Chair)
Nathaly Sweeney
Assistant Professor of Pediatrics, Neonatal-Perinatal Medicine, University of San Diego, and Rady Children’s Hospital
Jerica Lenberg
Genetic Counselor and Rady Children’s Institute for Genomic Medicine
The Wingate Family
Indigo Ballroom CDGH
12:00 p.m. – 1:00 p.m.
AGBT Lunch
Indigo Terrace
1:00 pm – 1:30 pm
Sponsor Workshops
Indigo Ballroom CDGH
1:03 pm – 1:18 pm
Sapphire Sponsor – Cambridge Consultants
Dr. Symon Cotton, head of life sciences, Cambridge Consultants
“Sequencing 2030 – the challenges and opportunities”
1:18 pm – 1:30 pm
Ruby Sponsor – Beckman Coulter Life Sciences
Calvin Cortes, M.P.H.,M.B.A.
“Optimizing your NGS lab with a game-changing, easy-to-use automation solution”
Session VI: National Initiatives in Genomic Medicine: All of Us and Genomics England (Geoffrey Ginsburg, All of Us Research Program, NIH and Professor Dame Sue Hill, NHS England, Chairs)
Indigo Ballroom CDGH
1:30 p.m. – 1:40 p.m.
Overviews from the Chairs
–
1:40 p.m. – 1:55 p.m.
1:55 p.m. – 2:15 p.m.
2:15 p.m. – 2:35 p.m.
The All of Us Research Program
Anji Musick, All of Us Research Program
“Progress with all the All of Us research program 2022”
Eric Venner, Baylor College of Medicine
“The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities”
Niall Lennon, Broad Institute of MIT and Harvard
“Taking the long view: driving discovery and advancing genomic medicine with new data types in AoU”
–
2:35 p.m. – 3:00 p.m.
3:00 p.m. – 3:25 p.m.
Genomics England
Richard Scott, Chief Medical Officer, Genomics England
“The UK newborn genomes programme”
Augusto Rendon, Chief Bioinformatician, Genomics England
“UKs 100,000 genomes program update and beyond”
3:25 p.m. – 3:45 p.m.
Coffee Break
Indigo Foyer AB
Session VII: Neurodevelopmental Genomics (Penelope Bonnen, Baylor University, Chair)
Indigo Ballroom CDGH
3:45 p.m. – 4:15 p.m.
Stephan Sanders
University of California, San Francisco
“Genes, isoforms, and function in neurodevelopmental disorders”
4:15 p.m. – 4:45 p.m.
Kaitlin Samocha
Massachusetts General Hospital
“Investigating the contribution of rare variation to severe developmental disorders”
4:45 p.m. – 5:00 p.m.
