POCKET GUIDE · 2020. 2. 27. · ACMG Foundation Awards HBG Convention Center Street Level, Hall 1 12:15 pm – 1:15 pm PLATFORM SESSIONS (No Credits) Platform Session 1 Abstracts

Sponsored by the American College of Medical Genetics and Genomics

POCKET GUIDESCHEDULE AT-A-GLANCE

Montréal 2020

24th International Conference on Prenatal Diagnosis and Therapy

16–19 June 2020 Montréal, Canada

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Courses: Fetal phenotyping, Gene sequencing and reproductive care, Neurogenetics of the brain, Mosaicism

Invited: CRISPR, AI, WES vs WGSDebates: Non-isolated fetal anomalies,

Polygenic disorders, Expanded NIPT

International Society for Prenatal Diagnosis

Building Global Partnerships in Genetics and Fetal Carewww.ispdhome.org/ISPD2020

www.acmgmeeting.net • #ACMGMtg20 1

ACMG 2020 Schedule at-a-Glance

Monday, March 163:00 pm – 7:30 pmSHORT COURSE

LGG Alternative Certification Pathway Short Course: Mentored Clinical CasesHBG Convention Center Level 2, Room 225 ABCD

Tuesday, March 1712:30 pm – 5:30 pmSHORT COURSES

Prenatal to Postnatal Renal and Genitourinary Anomalies: Genetics, Management and Outcomes — A Joint Course with ISPDHBG Convention Center Level 3, Room 301 ABC

Essential Fundamentals — Next Generation Sequencing from the BeginningHBG Convention Center Level 2, Room 221 ABCD

4:15 pm – 5:00 pmWORKSHOP

First Time Attendee OrientationHBG Convention Center Level 2, Room 225 ABCD

5:45 pm – 7:45 pmSPECIAL INTEREST GROUP FORUMS

Public Health: Hot Topics 2020 Public Health Genetics and GenomicsHBG Convention Center Level 3, Room 301 ABC

Adult Genetics: Polygenic Risk Scores: Ready for Prime Time? Pros, Cons, and Tips for ImplementationHBG Convention Center Level 3, Room 303 AB

2 2020 ACMG Annual Clinical Genetics Meeting

6:00 pm – 7:30 pmWORKSHOP (Pre-registration required)

Paving the Path Towards a Clinical-Grade HGVS NomenclatureHBG Convention Center Level 3, Room 302 ABC

SATELLITE SYMPOSIA (Pre-registration required)

Assessing the Potential Role of Emerging Therapies in the Early Diagnosis and Optimal Management of Chronic Visceral Acid Sphingomyelinase DeficiencySA Grand Hyatt Hotel, Lone Star Ballroom F

Cases and Conversations: Patient-Minded Approaches to Managing Fabry DiseaseSA Grand Hyatt Hotel, Lone Star Ballroom ABC

RECEPTION

Welcome Reception for Fellows, Residents, Trainees and StudentsHBG Convention Center Street level, Broken Crust Cafe

Wednesday, March 188:00 am – 9:30 amSATELLITE SYMPOSIA (Pre-registration required)

Overcoming Barriers to Clinical Adoption of NGS: Quality Coverage and Data AccessHBG Convention Center Level 3, Stars at Night Ballroom B1

Lessons Learned from Newborn Screening for Pompe Disease and Mucopolysaccharidosis Type IHBG Convention Center Level 2, Room 225 ABCD

Functional Modeling – The Next Frontier in Variant InterpretationHBG Convention Center Level 2, Room 221 ABCD


WORKSHOPS

Early Career Genetic Professionals Workshop – Building Leadership/Management SkillsHBG Convention Center Level 3, Room 302 ABC

ClinGen Industry Stakeholder Partnership Meeting (RSVP required)HBG Convention Center Level 3, Room 301 ABC

From Evidence to Guidelines: An Overview of the ACMG Evidence-Based Guidelines ProgramHBG Convention Center Level 3, Room 303 AB

10:00 am – 12:00 pmPLENARY SESSION

ACMG Presidential Plenary Session: Mayer-Rokitansky-Kuester-Hauser (MRKH) Syndrome — A Non-lethal Birth Defect with Broad Implications for Health Care featuring the Presentation of the 2020 ACMG Foundation AwardsHBG Convention Center Street Level, Hall 1

12:15 pm – 1:15 pmPLATFORM SESSIONS (No Credits)

Platform Session 1 Abstracts presented: 1/O – 4/OHBG Convention Center Level 3, Stars at Night Ballroom B1

Platform Session 2 Abstracts presented: 5/O – 8/OHBG Convention Center Level 3, Stars at Night Ballroom B2/3


1:30 pm – 3:30 pmSCIENTIFIC CONCURRENT SESSIONS

The Heart of the Matter– Congenital Cardiac Disease and PregnancyHBG Convention Center Level 2, Room 221 ABCD

The Evolving Landscape of Delivering Genetics Services: Tangled Policies and Financial ConsiderationsHBG Convention Center Level 3, Stars at Night Ballroom B2/3

Laboratory Diagnostic Challenges (Constitutional and Neoplastic Cases in Molecular, Cytogenomic, and Biochemical Genetics Specialties)HBG Convention Center Level 3, Stars at Night Ballroom B1

Neurogenetics Updates: What’s New in Genes, Pathways, Testing, and Treatments for Intellectual Disability and EpilepsyHBG Convention Center Level 2, Room 225 ABCD


The Genetics Hotline: Responsibility and Liability When Handling Unsolicited Patient CommunicationsHBG Convention Center Level 3, Stars at Night Ballroom B1

PLATFORM PRESENTATIONS

Cancer Genetics and Therapeutics Abstracts presented: 9/O – 14/OHBG Convention Center Level 3, Stars at Night Ballroom B2/3

Public Health, Health Services and Implementation Abstracts presented: 21/O – 26/OHBG Convention Center Level 2, Room 225 ABCD


Legal and Ethical Issues; Education Abstracts presented: 27/O – 32/OHBG Convention Center Level 3, Room 302 ABC

Genetic Counseling Abstracts presented: 15/O – 20/OHBG Convention Center Level 2, Room 221 ABCD

5:30 pm – 7:30 pmRECEPTION

Opening of Exhibits and ReceptionHBG Convention Center Street Level, Hall 2

Thursday, March 19

8:00 am – 10:00 amPLENARY SESSION

Featured Platform Presentations TED-Style Talks

HBG Convention Center Street Level, Hall 1

9:30 am – 4:30 pmEXHIBITS AND POSTERS

Poster Presentations | 10:00 am – 11:30 am (Odd-numbered Posters)

Exhibit Theaters Learning Lounges

HBG Convention Center Street Level, Hall 2


11:45 am – 1:15 pmLUNCHEONS

Trainee/Mentor LuncheonHBG Convention Center Level 3, Room 301 ABC

Genetic Counselors Luncheon and ForumHBG Convention Center Level 3, Stars at Night Ballroom B2/3

WORKSHOP

From Evidence to Guidelines: An Overview of the ACMG Evidence-Based Guidelines Program HBG Convention Center Level 3, Room 302 ABC


Excellence in Medical Genetics and Genomics Through DiversityHBG Convention Center Level 2, Room 225 ABCD

Inherited Cancer Predisposition: Emerging Evidence to Guide Testing and Treatment Among BRCA Carriers, Lynch Syndrome Carriers and BeyondHBG Convention Center Level 2, Room 221 ABCD

Artificial Intelligence and Genomics: Powerful Tools in Pre- and Postnatal Decision MakingHBG Convention Center Street Level, Hall 1

ClinGen Community Curation Interactive WorkshopHBG Convention Center Level 3, Room 302 ABC(ticketed event with limited enrollment)



Driving Precision Oncology Through Standards and Resources for Somatic Variant InterpretationHBG Convention Center Level 3, Stars at Night Ballroom B1

Neurofibromatoses: New Frontiers in NF1, NF2, and SchwannomatosisHBG Convention Center Level 3, Stars at Night Ballroom B2/3

The Gene Pool: Sharing Our Best Ideas for the Genetics WorkforceHBG Convention Center Level 2, Room 221 ABCD

Bringing the New Era of Mitochondrial Genomic Medicine to GeneticistsHBG Convention Center Level 2, Room 225 ABCD

6:00 pm – 7:00 pmMEETING

ACMG Annual Membership Business Meeting (ACMG members only)HBG Convention Center Level 3, Room 302 ABC

7:30 pm – 9:00 pmRECEPTION

ACMG Foundation Donors Recognition Reception (by invitation)SA Grand Hyatt Lone Star Ballroom Lobby


Friday, March 207:15 am – 8:45 amSATELLITE SYMPOSIA (Pre-registration required)

Identifying, Assessing, and Treating Hypophosphatasia (HPP) HBG Convention Center Level 2, Room 221 ABCD

Propionic and Methylmalonic Acidemias: Defining Best Practices for Diagnosis and Treatment HBG Convention Center Level 2, Room 225 ABCD

Targeting Pathogenic Mutations in the DNA Damage Response PathwayHBG Convention Center Level 3, Stars at Night Ballroom B1

7:30 am – 8:30 amDIVERSITY BREAKFAST (Pre-registration required)

HBG Convention Center Level 3, Room 301 ABC

9:00 am – 10:00 amPLENARY SESSION

Hot Topics: Liquid Biopsy Cancer Diagnostics and Application of Immunogenomics to Cancer TherapyHBG Convention Center Street Level, Hall 1

9:30 am – 1:00 pmEXHIBITS AND POSTERS

Poster Presentations | 10:30 am – 12:00 pm (Even-numbered Posters)

Day of Caring Bicycle Presentation | 10:30 am Exhibit Theaters Learning Lounges

HBG Convention Center, Hall 2


1:00 pm – 3:30 pmSTUDENT SESSION

Careers in Medical Genetics: An Informational Session for Students and TraineesHBG Convention Center Level 3, Room 301 ABC


Genetic and Genomic Testing Outside of Clinical Care: Changing Paradigms for Access, Application & Understanding – R. Rodney Howell SymposiumHBG Convention Center Level 3, Stars at Night Ballroom B1

Adult and Cancer Diagnostic ChallengesHBG Convention Center Level 3, Stars at Night Ballroom B2/3

Prenatal Diagnostic ChallengesHBG Convention Center Level 2, Room 221 ABCD

Chromatin Remodeling Disorders: An Expanding Clinical SpectrumHBG Convention Center Level 2, Room 225 ABCD

Genomic Informatics on Clinical Service and Approaches to Evaluate the Unknown/Uncertain Variants: An Interactive Workshop (ticketed event with limited enrollment)HBG Convention Center Level 3, Room 303 AB


Polygenic (Multifactorial) Risk Scores in Context: Utility for Clinical Practice and Population ScreeningHBG Convention Center Level 3, Stars at Night Ballroom B1


PLATFORM PRESENTATIONS

Prenatal Genetics Abstracts presented: 37/O – 42/OHBG Convention Center, Level 2, Room 225 ABCD

Biochemical/Metabolic Genetics Abstracts presented: 49/O – 54/OHBG Convention Center, Level 3, Room 302 ABC

Clinical Genetics and Therapeutics Abstracts presented: 43/O – 48/OHBG Convention Center, Level 3, Stars at Night B2/3

Laboratory Genetics and Genomics Abstracts presented: 55/O – 60/OHBG Convention Center, Level 2, Room 221 ABCD

6:00 pm – 7:30 pmSCIENTIFIC SESSION

Pediatric Diagnostic Dilemmas (Rare Knowns and Unknowns)HBG Convention Center Level 3, Stars at Night Ballroom B1


Saturday, March 21

8:00 am – 10:00 amSCIENTIFIC CONCURRENT SESSIONS

Cardinal Signs of Common and Uncommon DisordersHBG Convention Center Level 3, Stars at Night Ballroom B1

Classification of Constitutional Copy Number Variants: Using the Updated ACMG/ClinGen Technical StandardsHBG Convention Center Level 2, Room 221 ABCD

Power in Numbers: The Benefits of Rare Disease Consortia in Inborn Errors of MetabolismHBG Convention Center Level 3, Stars at Night Ballroom B2/3

10:30 am – 12:30 pmCLOSING PLENARY SESSION

Defining Best Clinical Practices in Genomic Testing of Healthy IndividualsHBG Convention Center Street Level, Hall 1

CALL FOR PROPOSALS2021 ACMG Annual Meeting

Proposal Submission Opens March 2020Submission Deadline: May 27, 2020

April 13-17 | Exhibit: April 14-16

Los Angeles Convention Center | Los Angeles, CA

ACMGMeeting.net

Navigating genetics in pediatric care

www.thieme.com/journals/pedInstitutional Subscribers: [email protected]

Ad_JPG_ACMG 2020_89x127_k0.indd 1Ad_JPG_ACMG 2020_89x127_k0.indd 1 24.01.2020 12:19:5924.01.2020 12:19:59

CALL FOR PROPOSALS2021 ACMG Annual Meeting

Proposal Submission Opens March 2020Submission Deadline: May 27, 2020

April 13-17 | Exhibit: April 14-16

Los Angeles Convention Center | Los Angeles, CA

ACMGMeeting.net

Download the free app. Scan the QR code or enter the URL in your device browser to download.

ACMGMeeting.net

Apple https://ativ.me/qmw

Android https://ativ.me/qmx

Web https://ativ.me/qmy

April 13-17 | Exhibit: April 14-16Los Angeles Convention Center | Los Angeles, CA

Documents

POCKET GUIDE · 2020. 2. 27. · ACMG Foundation Awards HBG Convention Center Street Level, Hall 1 12:15 pm – 1:15 pm PLATFORM SESSIONS (No Credits) Platform Session 1 Abstracts