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2020 ACMG Annual Clinical Genetics Meeting - Digital Edition
About this course

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Date of Release: May 1, 2020

Expiration Date CME, General CEU's, P.A.C.E.®: May 1, 2023

Expiration Date NSGC: May 1, 2022 [Expired]

Estimate Time of Completion: 66 Hours

Course must be completed by the expiration date


The 2020 ACMG Digital Edition of the Annual Clinical Genetics Meeting presents both research and clinical topics that promote the science and the practice of clinical genetics and genomics. Sessions focus on the latest discoveries of the etiology and the pathogenesis of genetic disorders, the latest developments in genetic testing and screening, the laboratory’s role in the diagnosis of genetic disorders, the treatment of genetic disorders in children and adults, the delivery of genetic services, and more.

This course contains accredited webinars, short courses, scientific sessions, platform sessions, and satellite symposia. Access is provided for viewing abstracts, posters and Exhibit Theaters.

Learning Objectives

At the conclusion of this course, participants should be able to:


  • Describe the advances in the detection of genomic variants using current and emerging technology
  • Manage initial care of new disorders on the recommended uniform screening panel
  • Describe the latest advances in the field of cancer genetics
  • Formulate differential diagnoses for inborn errors of metabolism with physical manifestations
  • Examine the potential and the challenges of prenatal genetics and newborn screening
  • Summarize the indications for genetic testing
  • Interpret pharmacogenomics reports to understand patient-specific clinical implications
  • Review the latest advances in targeted and personalized treatments for genetic conditions
  • Formulate innovative strategies to enhance healthcare delivery in the field of genetics medicine


Target Audience

All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:

  • Medical and clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems
  • Laboratory directors and technicians who conduct genetic testing
  • Researchers involved in the discovery of genetic disorders and treatments
  • Clinical, laboratory and research trainees of genetics and all biomedical sciences
  • Any healthcare and public health professionals who have an in interest in medical and clinical genetics and genomics
  • Advocates for patients with genetic conditions and their families


All times are Eastern Time (ET)

Live Webinars

CME | P.A.C.E.® | NSGC

April 29, 1:00 pm – 2:30 pm

Paving the Path Towards a Clinical-Grade HGVS Nomenclature


May 14, 1:00 pm – 2:30 pm

Early Career Genetic Professionals Workshop - Building Leadership/Management Skills


May 20, 2:00 pm – 3:30 pm

The Genetics Hotline: Responsibility and Liability When Handling Unsolicited Patient Communications


June 4, 11:00 am – 12:00 pm*

Defining Best Clinical Practices in Genomic Testing of Healthy Individuals


June 5, 1:00 pm – 2:00 pm*

Genetic and Genomic Testing Outside of Clinical Care: Changing Paradigms for Access, Application & Understanding - R. Rodney Howell Symposium


June 17, 12:00 pm – 1:30 pm*

Essential Fundamentals - Next Generation Sequencing From The Beginning – Short Course


July 20, 3:30 pm - 5:00 pm

Neurofibromatoses: New Frontiers in NF1, NF2, and Schwannomatosis



*(previewing required of presentations prior to webinar)




CME | P.A.C.E.® | NSGC

Prenatal to Postnatal Renal and Genitourinary Anomalies - Genetics, Management and Outcomes - A Joint Course with ISPD - Short Course


ACMG Presidential Plenary Session: Mayer-Rokitansky-Kuester-Hauser (MRKH) Syndrome - A Non-lethal Birth Defect with Broad Implications for Health Care


TED-Style Talks - 2020 Steven Benner on Re-synthesizing Biology and from 2019 Christopher Mason, Multiomic Investigation from the Urban Biome to Outer Space and Debra Regier, Next Generation Education Can Save Our Species Defective?


Neurogenetics Updates: What's New in Genes, Pathways, Testing, and Treatments for Intellectual Disability and Epilepsy


Cardinal Signs of Common and Uncommon Disorders


The Evolving Landscape of Delivering Genetics Services: Tangled Policies and Financial Considerations


Inherited Cancer Predisposition: Emerging Evidence to Guide Testing and Treatment Among BRCA Carriers, Lynch Syndrome Carriers and Beyond


Classification of Constitutional Copy Number Variants: Using the Updated ACMG/ClinGen Technical Standards


Hot Topic: Application of Immunogenomics to Cancer Therapy


Polygenic (Multifactorial) Risk Scores in Context: Utility for Clinical Practice and Population Screening


Genetic Counselor's Forum: Requesting and Working with Raw Genomic Data


Driving Precision Oncology Through Standards and Resources for Somatic Variant Interpretation


From Evidence to Guidelines: An Overview of the ACMG Evidence-Based Guidelines Program


Platform Presentations

CME | P.A.C.E.® | NSGC

Biochemical/Metabolic Genetics


Cancer Genetics and Therapeutics


Clinical Genetics and Therapeutics


Featured Platform Presentations


Genetic Counseling


Laboratory Genetics and Genomics


Legal and Ethical Issues; Education


Prenatal Genetics


Public Health, Health Services and Implementation


Webinars OnDemand

CME | P.A.C.E.® | NSGC

Paving the Path Towards a Clinical-Grade HGVS Nomenclature


The Genetics Hotline: Responsibility and Liability When Handling Unsolicited Patient Communications


Defining Best Clinical Practices in Genomic Testing of Healthy Individuals


Genetic and Genomic Testing Outside of Clinical Care: Changing Paradigms for Access, Application & Understanding - R. Rodney Howell Symposium


Early Career Genetic Professionals Workshop - Building Leadership/Management Skills


Essential Fundamentals - Next Generation Sequencing From The Beginning – Short Course


Neurofibromatoses: New Frontiers in NF1, NF2, and Schwannomatosis


Satellite Symposium

CME sponsored by a MedEd Company

P.A.C.E.® | NSGC

Cases and Conversations: Patient-Minded Approaches to Managing Fabry Disease



Assessing the Potential Role of Emerging Therapies in the Early Diagnosis and Optimal Management of Chronic Visceral Acid Sphingomyelinase Deficiency



Identifying, Assessing, and Treating Hypophosphatasia (HPP)



Overcoming Barriers to Clinical Adoption of NGS:  Quality Coverage and Data Access



Lessons Learned from Newborn Screening for Pompe Disease and Mucopolysaccharidosis Type I



Propionic and Methylmalonic Acidemias: Defining Best Practices for Diagnosis and Treatment



Targeting Pathogenic Mutations in the DNA Damage Response Pathway Genetic Testing and Counseling in the Era of Precision Medicine and Next-Generation Sequencing








educational credit


The American College of Medical Genetics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation
The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 66 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
CE (Continuing Education for non-physicians): This activity has been approved for CE credits.
*The certificate is accepted by the ABMGG for certification.

Genetic Counselor Credit

The National Society of Genetic Counselors (NSGC) has authorized ACMG to offer up to 6.6 CEUs or 66 Category 1 contact hours for the activity ACMG 2020 Digital Edition. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.

ACMG will report completed accredited sessions to NSGC for credit certificates on December 4, 2020, December 3, 2021 and July 8, 2022. Submissions outside of these parameters may incur a processing fee of $40.

P.A.C.E.® CEUs- Laboratory Directors and Laboratory Personnel

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program. The American College of Medical Genetics and Genomics designates this OnDemand course for a maximum of 66 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider #50-11878. This course is registered # 20-775394 with CEBroker.  ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®


1.  ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
a)  All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
b)  All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.

2.  Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.

3.  Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.


When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.


The ACMG supports medical information privacy. While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized. All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information. If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available upon request.


ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Financial Disclosures

Disclosure Statement

The American College of Medical Genetics and Genomics has implemented a process where everyone who is in a position to influence and/or control the content of a continuing education activity must disclose all relevant financial relationships with any commercial interest within the past 12 months and any conflicts must be resolved prior to the activity. Participants of educational programs must be informed of an organizer’s and/or a presenter’s academic and professional affiliations and existence of any relevant financial relationship a presenter has with any proprietary entity producing heath care goods or services consumed by, or used on patients, with the exemption of non-profit or government organization and non-health care

related companies. The intent of this disclosure is not to prevent a speaker from making a presentation. This policy allows the participant to be fully knowledgeable in evaluating the information being presented. All disclosures have been reviewed by the COI sub-committee conflicts of interest are resolved. Disclosure includes any relevant relationship that may potentially bias the planning of the continuing education activity or may potentially bias one’s presentation or which, if known, could give the perception of bias.



1. Major stockholder/ownership interest

2. Grant/Research Support (External)

3. Royalty (ies)/Honoraria

4. Consultant/consulting fees/other remuneration

5. Speakers bureau

6. Non-remunerative positions of influence such as officer, board member, trustee, or public spokesperson

7. Receipt of intellectual property

8. Consultant/Advisory Board

9. Other (Explain)

Financial Disclosures

Members of the ACMG Program Committee have the following disclosures:

Sarah Elsea, PhD, FACMG - Shire Genetic Therapies, 2

Akash Kumar, MD, PhD - MyOme, Inc, 1, 4

Anne Slavotinek, PhD, FACMG - UptoDate, 4, Wiley, Inc, Oxford, University Press, 3


The following members have nothing to disclose:


Jennelle C. Hodge, PhD, FACMG

Tuya Pal, MD, FACMG

Christian P. Schaaf, MD, PhD, FACMG

Anthony Gregg, MD, MBA, FACOG, FACMG

Kristina Cusmano-Ozog, MD, FACMG

Keith Eddleman, MD, FACMG

Michael Geraghty

Jodi D. Hoffman, MD, FACMG

Jennifer King, MD, MS

Pilar L. Magoulas, MS, CGC

Kelsey McIntyre, PhD, FACMG

David Stevenson, MD, FACMG

Jessica Smith, MD

Eli Williams, PhD, FACMG

Myra Wick, MD, PhD, FACMG

Michael S. Watson, PhD, FACMG

Jane Dahlroth, CEM, CMP-HC

Jane Radford, MHA, CHCP

Penelope Freire, CMP

Claudia Barnett

Jenna Cohen, CMP


Speakers and Moderators Disclosures

Presenters and moderators have disclosed the following:

Berry, Susan – Sanofi, 3, 8

Biesecker, Leslie - ArQule, 2, Illumina, Inc, 6, Cold Spring Harbor Press, 3, Salary, Spouse/Legally recognized domestic partner; RTI International, 9

Burton, Barbara - Biomarin, Shire, Genzyme, Horizon, Alexion, 4

Brill, Joel - Ambu, AnX Robotica, Cernostics, Check Cap, Digma Medical, Diversatek, Dune Medical, Echosens, Endogastric Solutions, Erbe, Exact Sciences, Exalenz, Gala Therapeutics, Glaukos,  Hello Heart, HyGIeaCare, Insightec, MaunaKea Technologies, Medtronic, Nuviera, Pacira, Penumbra, Proteus Digital Health, Reflexion, Senseonics, SonarMD, Stage Zero Life Sciences, Tabula Rosa Health Care, Tusker Medical, UCB Pharma, Vertos Medical, Wright Medical, 4

Carey, John - FDNA/Face2Gene, 8, John Wiley & Sons, Associate Editor American Journal of Medical Genetics, 4

Chung, Wendy - Regeneron Genetics Center, 8

Cunniff, Christopher - Biogen, 8, Eli Lilly and Company, 4

Dhar, Shweta - Acer Therapeutics, 8, PanGenomics, 1

Dubuc, Adrian - Lighthouse Lab Services and Thrive Genomics Rive Genomics, 4

Elsea, Sarah - Enzyvant, Millendo Therapeutics, 4, Shire, Inc. (Takeda), Vanda Pharmaceuticals, Rhythm Therapeutics, 2

Erlich, Yaniv - ArcBio, 8, LunaDNA, 4, DNA.Land, 1, Employee, MyHeritage, 9

Farrar, Michelle – Biogen, 4, 5, AveXis, 4, Roche 4

Freivogel, Mary - HCA/Sarah Cannon, 4, employee and stockholder, Invitae, 9

Gelb, Michael - PerkinElmer, Passage Bio, 4, Ultrageneyx, Takeda, Biomarin, CureGM1, 2

Gharavi, Ali - Astra Zeneca, 4, Renal Research Institute, 2

Gilllingham, Melanie - Ultragenyx Pharmaceutical, Reneo Pharmaceutial, 4

Gripp, Karen - FDNA, 8

Hagenkord, Jill - Former employee resigned June 2019, Color Genomics, 9

Hampel, Heather - Invitae, Genome, 23andMe, 8, Promega, 4, Myriad Genetics, 2

Harding, Cary - BioMarin Pharmaceutical Corp, Synlogic Inc, 4, StrideBio Inc, 2, Ultragenyx, Inc, 3

Hisama, Fuki -  Spouse/Legally recognized domestic partner, Zogenix, 4

Hsiao, Susan - Bristol Myers Squibb, Loxo Oncology, 8, Bristol Myers Squibb, 2

Janicek, Mike - Astra Zeneca, Clovis, 5

Kishnani, Priya - Alexion Pharmaceuticals, 8, 2

Korf, Bruce - Genome Medical, 8, AstraZeneca, SprinWorks Therapeutics, 4

Kuhn, Robert - Regeneron Inc, 2, UCSC Genome Browser, 3

Kurian, Allison - Myriad Genetics 2

Lachmann, Robin –Sanofi Genzyme, Kyowa Kirin International, Biomarin, 4, Takeda, 3

Laney, Dawn - Sanofi-Genzyme, Takeda-Shire, Amicus Therapeutics, 4, ThinkGenetic Inc, 1

Li, Marilyn - Roche Sequencing Solutions, 8

Lyon, Elaine - Genoox, 4

Maisenbacher, Melissa - Employee, Natera, 9

Mardis, Elaine - Kiadis Pharmaceuticals NV, PACT Pharma LLC, Interpreta LLC, 8, Qiagen NV, 1,  Board of Directors/Supervisory Board, Qiagen NV, 9

Might, Matthew - Q State Biosciences, 1

Monk, Bradley - Honorarium/Consultant, Abbvie, Advaxis, Agenus, Amgen, Aravive, Asymmetric Therapeutics, Boston Biomedical, ChemoCare, ChemoID, Circulogene, Conjupro, Easai, Geistlich, Genmab/Seattle Genetics, GOG Foundation, Immunogen, Immunomedics, Incyte, Laekna Health Care, Mateon (formally Oxigene), Merck, Mersana, Myriad, Nucana, Oncomed, Oncoquest, Oncosec, Perthera, Pfizer, Precision Oncology , Puma, Regeneron, Samumed, Takeda, VBL, Vigeo, Honorarium/Consultant/Speaker, AstraZeneca, Clovis, Janssen/Johnson & Johnson, Roche/Genentech, Tesaro/GSK, 9

Muenzer, Joseph - Sanofi Genzyme, Takeda (Shire), Bluebird Bio, 8, Takeda (Shire), Sangamo Therapeutics Inc, SOBI, 2

Nielsen, Sarah - Invitae, 1

Ortiz, Damara - Sanofi-Genzyme, 4

Palomaki, Glenn - Illumina, Ansh Labs, Roche, LabCorp, 4, PerkinElmer, 2

Phillips, Kathryn - Illumina, 4

Plotkin, Scott - AstraZeneca, 8, NFlection Therapeutics, NF2 Therapeutics, 1

Poduri, Annapurna - Tevard, 6, employee, Spouse/Legally recognized domestic partner, Sanofi Genzyme, 9

Rehder, Catherine  - Illumina, 4

Robinson, Peter - NIH, European Commission, 2, Patent application for algorithm that will be discussed among various other topics, Jackson Laboratory, 9

Roy, Somak - Roche Sequencing Solutions, 8

Rush, Eric -  Alexion Pharmaceuticals, Ultragenyx Pharmaceuticals, Biomarin Pharmaceuticals, 4, Alexion Pharmaceuticals, 2, Alexion Pharmaceuticals, Ultragenyx Pharmaceuticals, 5

Schiffmann, Raphael - Protalix Biotherapeutics, Amicus Therapeutics, 4D Molecular Therapeutics, 8, Idorsia, 2

Skotko, Brian - Gerson Lehrman Group, 4, LuMind IDSC Down Syndrome Foundation, 2, Woodbine House, 3

Slavin, Thomas - AstraZeneca, 3

Steiner, Robert - Acer Therapeutics, Censa Pharmaceuticals, E-Scape Bio, Alexion, 4, Alexion, 2, Acer Therapeutics, Censa Pharmaceuticals, 1, employee,  PreventionGenetics, Security Health Plan, 9

Ferrar, Michelle - AveXis, Inc, Biogen, Roche, Biogen, 2

Sutton, V. Reid - PTC Therapeutics, PWN Health, 8, Mereo Biopharma, 2, salary support from Baylor Genetics Laboratory, Baylor Genetics, 9

Viskochil, David - Sanofi-Genzyme, Shire-Takeda, 8, Sanofi-Genzyme, 4, Soleno Therapeutics, Shire-Takeda, 2


The following moderators and presenters have nothing to disclose:


Adam Gordon

Adrian Thorogood

Alessandra Sugrañes

Alice Popejoy

Alison M. Elliott

Amel Karaa

Amy Goldstein

Amy Nisselle

Amy Sturm

Andrea Gropman

Anita Moon-Grady

Ann Katherine M. Foreman

Ann Warren

Anthony Gregg

Ashley Cannon

Aya Abu-El-Haija

Azra Ligon

Barbara Evans

Barrie Suskin

Bianca Russell

Birgit Funke

Brielle Crovetti

Casie Genetti

Cedrik Ngongang

Chad Haldeman-Englert

Cherisse Marcou

Christa Martin

Christian Schaaf

Cindy Vnencak-Jones

Curt Scharfe

Daniel McGinn

Daniel Pineda-Alvarez

Danita Velasco

David Bick

David Bradley

David Miller

Daynna Wolff

Devin Oglesbee

Douglas Stewart

Elaine Spector

Ellen Clayton

Eli Williams

Eric Boerwinkle

Erica Andersen

Erica Sutton

Erik Thorland


Erin Riggs

Erin Wakeling

Eva Morava-Kozicz

Fabiola Quintero-Rivera

Fady Mikhail

Feng Xu

Gabrielle Geddes


Gillian Hooker

Gordana Raca

Hadley Smith

Hans Andersson

Heather Parsons

Heather Radtke

Heidi Rehm

Helga Toriello

Iman Hajirasouliha

James Holt

Janet Malek

Jennelle Hodge

Jennifer King

Jesse Walsh

Jessica Smith

Jill Fahrner

Jill Holdren

Jillian M. Carroll

Jodi Hoffman

Johan den Dunnen

John Mulvihill

Jonathan Berg

Joseph Shieh

Julie Gastier-Foster

Katarzyna Ellsworth

Katelynn G. Sagaser

Katherine Helbig

Kevin Glinton

Kilannin Krysiak

Kosuke Izumi

Kristen Deak

Kristina Cusmano-Ozog

Kuntal Sen

Laura Ellis

Leah Burke

Leora Witkowski

Leslie E. Oldfield

Lina Shao

Linda Randolph

Liza Johannesson

Louanne Hudgins

Louisa Ive

Louise Wilkins-Haug

Lucia Hindorff

Marc Williams

Marci Schwartz

Maren Scheuner

Marilyn Jones

Marissa Ellingson

Mark Caulfield

Mark Ewalt

Marshall Summar

Matthew Lebo

Melissa Wasserstein

Michele Caggana

Monica Giovanni

Nahla Khalek

Natalie Deuitch

Nicole Hoppman

Nicolas Ah Mew

Nora Henrikson

Nur Zeinomar

Oleg Shchelochkov

Paul Hillman

Paul Kruszka

Peter Krawitz

RaeLynn Forsyth

Ralitza Gavrilova

Robert Best

Robert Desnick

Rosanna Weksberg

Ross Rowsey

Ryan Schmidt

Samantha Caldwell

Samuela Fernandes

Samya Chakravorty

Shoumita Dasgupta

Stephanie Bielas

Steve Cole

Steven Benner

Sumit Parikh

Susan Wolf

Swaroop Aradhya

Tara Schmidlen

Theresa Grebe

Thomas Prior

Tuya Pal

Valerie Kantor

Vandana Shashi

Wen-Hann Tan

Whitley V. Kelley

Xiaowu Gai

Yang CAO


Participation Instructions (OnDemand)

  1. Complete Session by watching recordings.
  2. Pass a post-test with a score of 80% or better (Learning mode activated and reset)
  3. Complete session evaluations

Registration and Fees

ACMG Members and ACMG Trainees: ($349)

Non-members ($399)

Questions regarding CE credit should be directed to




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Availability: Retired
Cost: ACMG Member: $349.00
Non-Member: $399.00
Postdoc/Trainee (M): $349.00
Postdoc/Trainee (NM): $399.00
Student (M): $349.00
Student (NM): $399.00
Credit Offered:
No Credit Offered
Contains: 10 Courses

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