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.


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


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


Keith Yamamoto


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


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.

Final Comments and SUM2Win Prize Winners Announced (Stephen Kingsmore, Rady Children’s Hospital)
Dinner on your own