2023 ACMG Genetics and Genomics Review Course - Digital Edition
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The ACMG Genetics and Genomics Review Course was held June 12-16, 2023. This digital edition offers a pre/post exam, 21 recorded presentations, 5 recordings of faculty Q&A, and an electronic syllabus.

Additional purchases:

2023 Qbank - My Personal Practice Exam

2023 Genetics and Genomics Review Course PRINTED Syllabus

Image For Activity Cover
Availability
On-Demand
5 Courses
Expires on Jun 30, 2025
Cost
ACMG Member: $695.00
Non-Member: $795.00
Postdoc/Trainee (M): $695.00
Postdoc/Trainee (NM): $795.00
Student (M): $695.00
Student (NM): $795.00
Credit Offered
20 CME (AMA) Credits
20 CME (Other) Credits
20 P.A.C.E. Credits
20 CCP-PART II Credits
  • First time users
  • Course Description
  • Outline & Topic Learning Objectives
  • Meet the Faculty
  • ACMG Accredited Continuing Education Information
  • Financial Disclosures

First time users: You will need to check your degree as you created an ACMG account. The system designates educational credits according to your degree. Be sure you are logged in (do you see your name on the top right under the ACMG Genetics Academy logo?). If not, log in before proceeding.

For technical support, please send an email to: education@acmg.net or call 301-718-9603.

Or click on the “Help” Badge Question Mark with solid fill icon on the left-hand side of your screen for more information.

Date of Release: June 23, 2023

Expiration Date: June 30, 2025

Credits offered: CME, P.A.C.E.®

ABMGG Continuing Certification - Lifelong Learning and Self-Assessment (Part II)

NSGC Category 2 CEUs/Genetic Counselors (self-report)

 

Estimate time of completion: 20 hours


Course Description
The ACMG Genetics and Genomics Review Course was held June 12-16, 2023. This digital edition offers recorded presentations, recordings of the live Q&A with the faculty, a pre/post exam, and an electronic syllabus.

  • A Pre- Exam (required)
  • 5 recorded Q&A Sessions with Faculty and a Live Exam Workshop 
  • 20 Recorded Lectures (15 New 2023 Recordings and 5 Recorded in 2021)
  • PDFs of slides provided
  • Supplemental material includes PDF of slides and Syndromes Every Geneticist Should Know
  • Electronic Syllabus
  • Mini-Practice Test (42 questions)

 

Not included in this version:

  • Printed Syllabus ship-to-order (additional fee)
  • 2023 Qbank - My Personal Practice Exam (additional fee)

 

Successful completion of this course includes:

  1. You must complete a pretest. This is required and you cannot access content until you answer 42 test questions.
  2. Access the educational content
  3. You must complete a posttest. This will show you data for areas for improvement.

 

Target Audience
This course is designed to assist genetics healthcare professionals who are seeking to update and reinforce their general knowledge of medical genetics. This course also allows ABMGG individuals to prepare for Board Certification. Genetic counselors are welcome to participate in this course.

 

Overall Learning Objectives

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

  • Identify common genetic disorders
  • Discuss the clinical features of common genetic disorders
  • Interpret genetic test data
  • Explain how to communicate molecular test results to families
  • Perform basic quantitative genetic calculations
  • Solve basic quantitative genetic calculations related problems
  • Describe principles of cytogenetics
  • Identify features of common chromosomal disorders
  • Recognize clinical features of selected metabolic disorders
  • Describe the molecular basis of selected metabolic disorders
  • Review how to provide counseling about selected metabolic disorders
  • Discuss the extents and limits of prenatal tests
  • Explain how to perform routine prenatal counseling
  • Explain clinical and molecular aspects of inherited cancer syndromes
  • Provide genetic counseling for common human cancers
  • Incorporate genomics into clinical practice

 

2023 ACMG Genetics and Genomics Review Course - OnDemand

 

Cell Biology/Genomics| Clinical Cytogenetics| Cancer Genetics 1 & 2 - June 12

Cell Biology/Genomics                                                                   Fady M. Mikhail, MD, PhD, FACMG

Clinical Cytogenetics                                                                      Fady M. Mikhail, MD, PhD, FACMG

Cancer Genetics I                                                                             Sharon Plon, MD, PhD, FACMG

Cancer Genetics II                                                                            Sharon Plon, MD, PhD, FACMG

Faculty Q&A June 12                                                                       Drs. Mikhail and Plon

 

Genetic Transmission| Neurogenetics| Genomics - Basics| Exam Preparation Tips - June 13

ABMGG who we are                                                                        Miriam (Mimi) Blitzer, PhD, FACMG

Genetic Transmission                                                                     Bruce R. Korf, MD, PhD, FACMG

Neurogenetics                                                                                  Bruce R. Korf, MD, PhD, FACMG

Genomics - Basics                                                                             Robert Hufnagel, MD, PhD, FACMG

Exam Preparation Tips                                                                   John A. Bernat, MD, PhD, FACMG

Faculty Q&A June 13                                                                       Drs. Korf and Hufnagel

 

Clinical Molecular Genetics| Clinical Genomics| Biochemical Genetics 1 & 2 - June 14

Clinical Molecular Genetics                                                          Pinar Bayrak-Toydemir, MD, PhD, FACMG

Clinical Genomics*                                                                          Heidi Rehm, PhD, FACMG

Biochemical Genetics I                                                                   Gerard Berry, MD, FACMG

Biochemical Genetics II                                                                  Gerard Berry, MD, FACMG

Faculty Q&A June 14                                                                       Drs. Bayrak-Toydemir, Rehm, and Berry

 

Reproductive Genetics 1 & 2| Newborn Screening| Developmental Genetics| Exam Workshop - June 15

Reproductive Genetics I*                                                             Louise E. Wilkins-Haug, MD, PhD, FACMG

Reproductive Genetics II*                                                            Louise E. Wilkins-Haug, MD, PhD, FACMG

Newborn Screening                                                                        John A. Phillips, III, MD, FACMG

Developmental Genetics*                                                            Tony Wynshaw-Boris, MD, PhD, FACMG

Faculty Q&A June 15                                                                       Drs. Wilkins-Haug, Phillips, and Wynshaw-Boris

Exam Workshop June 15                                                               Dr. Bernat with Drs. Mikhail, Plon, Korf, Hufnagel, Bayrak-Toydemir, Rehm, Berry, and Al-Beshri

 

Genetic Counseling & Risk Assessment| Systems-Based Disorders 1 & 2 | Genomic Medicine - June 16

Genetic Counseling & Risk Assessment*                                Pamela L. Flodman, MSc, MS, LCGC

Systems-Based Disorders I                                                           Ali Al-Beshri, MBBS, FACMG

Systems-Based Disorders II                                                          Angela Grochowsky, MD, FACMG

Genomic Medicine                                                                          Bruce R. Korf, MD, PhD, FACMG

Faculty Q&A June 16                                                                       Ms. Flodman, Drs. Al-Beshri, Grochowsky, and Korf

 

*Recorded 2021

Exam Preparation Practice Exam & Tips – John A. Bernat, MD, PhD, FACMG

  • Identify areas where further preparation is needed
  • Prepare for on-going exam preparation and effectively, and optimize opportunities offered at the Genetics and Genomics Review Course

Cell Biology/Genomics – Fady M. Mikhail, MD, PhD, FACMG

  • Provide a brief history of cytogenetics
  • Review chromosome structure and composition of the human genome  
  • Paraphrase the mammalian cell cycle and appropriately describe the steps of meiosis and mitosis.
  • Review the types of chromosomal abnormalities and clinical cytogenetic disorders including polyploidy and aneuploidy disorders
  • Discuss X chromosome inactivation and the pseudoautosomal regions

Genomics - Basics – Robert Hufnagel, MD, PhD, FACMG

  • Describe molecular testing methods
  • Compare testing strategies based on spectrum of pathogenic variants
  • Apply genetic/genomic concepts for diagnostic testing

Clinical Cytogenetics – Fady M. Mikhail, MD, PhD, FACMG

  • Review the clinical indications for cytogenetic analysis
  • Describe the methods of chromosome analysis and their applications to patient’s diagnosis
  • Review the basics of the cytogenetic nomenclature
  • Discuss copy number variants and their molecular mechanisms
  • Define genomic disorders including recurrent microdeletion/microduplication syndromes
  • Discuss genomic imprinting and its role in disease
  • Provide an overview of cancer cytogenetics

Clinical Molecular Genetics - Pinar Bayrak-Toydemir, MD, PhD, FACMG

  • Apply Bayesian calculation to carrier residual risk
  • Review molecular test strategies and results for common disorders
  • Interpret molecular results for triplet repeat diseases

Cancer Genetics I - Sharon E. Plon, MD, PhD, FACMG

  • Recognize the major mutation types for oncogenes in tumor samples
  • Define the pattern of cancer and recurrence risk for patients with RB1, P53 and APC pathogenic variants.
  • Define the Knudson two-hit hypothesis as it applies to hereditary and sporadic cancers

Cancer Genetics II - Sharon E. Plon, MD, PhD, FACMG

  • Distinguish the genetic mechanisms that result in the two major forms of hereditary colon cancer.
  • Define the cancer risk and risk management recommendations for hereditary breast – ovarian cancer. 
  • Summarize the major classes of autosomal recessive disorders that result in an increased risk of childhood cancer. 

Newborn Screening - John A. Phillips, III, MD, FACMG

  • Review the approach used in Newborn Screening (NBS)
  • Review clinical presentations, Dx & Rx of selected disorders in the TN NBS Panel
  • Access ACMG ACT sheets & New England Emergency Protocols
  • Use the ACMG ACT sheets & New England Emergency Protocols

Developmental Genetics - Anthony J. Wynshaw-Boris, MD, PhD, FACMG

  • Analyze normal human embryology and development
  • Select and appropriately use electronic references and texts to work up patients with dysmorphology.
  • Distinguish and classify common birth defects, such as malformations, deformations, disruptions and syndromes, and counsel families about recurrence.

Genetic Counseling & Risk Assessment - Pamela L. Flodman, MSc, MS, LCGC

  • Interpret family and medical histories in combination with results of genetic testing
  • Assess the chance of disease occurrence or recurrence.
  • Provide counseling to promote informed choices and adaptation to the risk or condition

Biochemical Genetics I - Gerard Berry, MD, FACMG

  • Describe biochemical mechanisms of common classes of metabolic disorders
  • List common principles of inborn errors of metabolism
  • Describe treatment strategies for common metabolic disorders

Genetic Transmission - Bruce R. Korf, MD, PhD, FACMG

  • Recognize patterns of Mendelian transmission
  • Describe deviations from classical Mendelian transmission
  • Perform basic population genetic calculations
  • Describe models of multifactorial inheritance
  • Use odds ratios in risk assessment based on GWAS data
  • Explain how polygenic rick scores are derived

Reproductive Genetics I - Louise E. Wilkins-Haug, MD, PhD, FACMG

  • Examine aneuploidy screening
  • Compare serum screening to Non-Invasive Prenatal Testing (NIPT, ffDNA, cfDNA,)
  • Explain the caveats of cfDNA
  • Assess the role of fetal ultrasound “soft markers” and structural anomalies

Neurogenetics - Bruce R. Korf, MD, PhD, FACMG

  • Formulate genetic differential diagnosis for neurological problems
  • Recognize indications for genetic testing for neurological disorders
  • Describe natural history and management for selected neurogenetic disorders

Biochemical Genetics II - Gerard Berry, MD, FACMG

  • Explain the mechanisms of recombination, transitions, TRN expansions, DNA methylation silencing, gene fusions, imprinting, and provide examples of each
  • Describe DNA and gene structure, function, replication, and expression
  • Identify types of polymorphisms and pathogenic variants, with examples of each

Systems-Based Disorders I - Ali Al-Beshri, MBBS, FACMG

  • Describe the molecular basis of each of the genetic disorders reviewed. 
  • Interpret laboratory data on molecular tests for the most common genetic disorders.
  • Describe multiple testing technologies and testing strategies designed to test for specific types of pathogenic variants, as well as the limitations of the test.

Exam Workshop - John A. Bernat, MD, PhD, FACMG

  • Identify areas where further preparation is needed
  • Direct post-course preparation to specific resources
  • Optimize exam performance

Systems-Based Disorders II - Angela Grochowsky, MD, FACMG

  • Summarize selected genetic pulmonary, immunology, hematology, endocrine, connective tissue, and renal disorders
  • Select disorders that are important, have treatment options and/or a recent GeneReviews update
  • Emphasize key clinical features; genetic, diagnostic & management information for each disorder

Reproductive Genetics II - Louise E. Wilkins-Haug, MD, PhD, FACMG

  • Discuss the modalities for screening for aneuploidy.
  • Compare prenatal diagnostic tests – pros and cons.
  • Describe how to incorporate ultrasound findings into prenatal genetic risk assessment.

Clinical Genomics - Heidi Rehm, PhD, FACMG

  • Classify variants following ACMG/AMP guidelines
  • Identify resources to support gene-disease validity assessment
  • Define approaches to analyze genomic data

Genomic Medicine - Bruce R. Korf, MD, PhD, FACMG

  • Discuss the genetic principles and clinical presentation of the genetic conditions used as examples
  • Recognize the importance of the emerging field of pharmacogenetics to healthcare and the personalized medicine movement
  • List challenges to applying pharmacogenetics to patient care at the present time

Course Directors

 

Bruce R. Korf, MD, PhD, FACMG

Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics

Chief Genomics Officer, UAB Medicine

University of Alabama at Birmingham

1720 2nd Ave. S., Kaul 230

Birmingham, AL 35294

Tel: (205) 934‐9411

E‐mail: bkorf@uab.edu

 

  

Dr. Korf is the Associate Dean for Genomic Medicine, School of Medicine; Chief Genomics Officer, UAB Medicine; Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, Professor of Genetics, Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine, Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute and editor-in-chief of the American Journal of Human Genetics. Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. His major research interests are genomic medicine and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium, and co-PI of the Alabama Genomic Health Initiative and the All of Us Southern Network. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), and Emery and Rimoin’s Principles and Practice of Medical Genetics.

 

Dr. Korf received his bachelors and medical degrees from Cornell University. He completed his PhD in Genetics and Cell Biology at Rockefeller University. He completed residency in pediatrics at Boston Children’s Hospital, neurology in the Harvard-Longwood Neurology Training Program, and genetics in the Harvard Medical School Genetics Training Program. He is certified by the American Board of Genetics and Genomics in clinical genetics, clinical cytogenetics, and clinical molecular genetics; the American Board of Pediatrics in pediatrics; the American Board of Psychiatry and Neurology in neurology (child neurology).

 

 

John A. Phillips, III, MD, FACMG

David T. Karzon Professor of Pediatrics

Professor of Pathology, Microbiology and Immunology and Professor of Medicine

Director, Division of Medical Genetics & Genomic Medicine

Vanderbilt University School of Medicine

DD‐2205 Medical Center North

Nashville, TN 37232‐2578

Tel: (615) 322‐7602

E‐mail: john.a.phillips@vumc.org

  

My current research interests are molecular investigations of the pathogenesis of Mendelian disorders. These include specific studies of the following: 1) genetic defects in the growth hormone (GH) synthetic pathway and regulation of alternative splicing of GH1 transcripts, 2) genetic basis of familial primary pulmonary hypertension (FPPH), 3) genetic basis of familial dyslexia, 4) genetic basis of idiopathic pulmonary fibrosis (IPF) and 5) determining the molecular basis of VLCAD, LCHAD and other selected disorders of fatty acid oxidation and genes that metabolize medications using a new patented method (GVS) to screen for human genome variation.

 

 Faculty

 

Ali S. Al-Beshri, MD, FACMG

Assistant Professor, Department of Genetics

Heersink School of Medicine, University of Alabama at Birmingham

1720 2nd Ave S., VH1L108B

Birmingham, AL, 35294-0019

Phone: (205) 934-9528

Fax: (205) 975-6389

Email: asabeshri@uabmc.edu

 


Ali Al-Beshri is an assistant professor in the Department of Genetics at the University of Alabama at Birmingham. He completed his medical degree at the Dammam University in Saudi Arabia. He completed a combined internal medicine and medical genetics residency at the University of Alabama at Birmingham and a medical biochemical genetics fellowship at the National Human Genome Research Institute at the NIH. He is board certified in Internal Medicine, Clinical Genetics and Genomics, and Medical Biochemical Genetics. His clinical interests are adult genetics, mitochondrial disease, and inborn errors of metabolism.

Pinar Bayrak-Toydemir, MD, PhD, FACMG

University of Utah School of Medicine

Professor, Clinical Pathology

Medical Genetics and Genomics Department

 30 N 1900 E

Salt Lake City, UT 84132

Tel: (801) 581-7498

Email: pinar.bayrak@aruplab.com


Dr. Bayrak-Toydemir is a medical director of the Molecular Genetics and Genomics Department at ARUP and a professor (tenure) of clinical pathology at the University of Utah’s School of Medicine. Dr. Bayrak-Toydemir received her MD at the Ankara University School of Medicine, and PhD in human genetics at the Ankara University School of Medicine. She completed a fellowship in clinical molecular genetics at the University of Utah, School of Medicine. She is certified with the American Board of Medical Genetics Medical Genetics and Genomics in Laboratory Genetics and Genomics, and a member of the American Society of Human Genetics, Hereditary Hemorrhagic Telangiectasia Foundation International, Inc., and the Turkish Society of Medical Genetics.

 

She served in the Academic Senate (2017-2019). She is a member of the School of Medicine Faculty Appointment, Review, & Advancement Committee. She is also member of the School of Medicine College Council.

 

Dr. Bayrak-Toydemir has focused her research efforts on understanding the molecular genetic characteristics of inherited vascular diseases. She primarily studies Hereditary Hemorrhagic Telangiectasia (HHT) disease. In addition to HHT, her research aims to identify genes that cause various inherited vascular malformations, including capillary malformation-arteriovenous malformation syndrome.

 

Dr. Bayrak-Toydemir is also interested in application of next generation sequencing to molecular diagnostics and involved developing many practice guidelines. Specifically, she has focused on undiagnosed diseases using exome and genome sequencing and deep sequencing of vascular tissues to identify somatic alterations. She is part of the NIH-undiagnosed disease network.

 

John A. Bernat, MD, PhD, FACMG

Clinical Associate Professor of Pediatrics

Division of Medical Genetics and Genomics

University of Iowa

200 Hawkins Dr, W125 GH

Iowa City, IA 52242

Tel: (319) 356-2675

E-mail: john-bernat@uiowa.edu

 

 


John Bernat, MD, PhD, is a clinical associate professor in the Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, at the University of Iowa. He is board-certified in clinical genetics and genomics and clinical molecular genetics and genomics. His clinical interests include lysosomal disorders, skeletal dysplasias, and 22q11.2 deletion syndrome. He currently serves as a site principal investigator for eleven active clinical trials involving lysosomal disorders and related metabolic disorders, including two gene therapy trials. He also serves as Past-Chair for ACMG's Education and CME committee.

 

Gerard Berry, MD, FACMG

Harvey Levy Chair in Metabolism Director,

Metabolism Program Division of Genetics and Genomics Boston Children’s Hospital

Professor of Pediatrics, Harvard Medical School,

Center for Life Science Building,

3 Blackfan Circle, Suite 14070

Boston, MA 02115

Tel: (617) 355‐4316

E‐mail: Gerard.Berry@childrens.harvard.edu

 

Gerard T. Berry, MD a biochemical geneticist and pediatric endocrinologist, is the Harvey Levy Chair in Metabolism and Director of the Metabolism Program at Boston Children’s Hospital, Professor of Pediatrics at the Harvard Medical School, and Director of the Harvard Medical School Biochemical Genetics Training Program. He is the President of the Society for Inherited Metabolic Disorders (SIMD). He is a Communicating Editor for the Journal of Inherited Metabolic Diseases and on the Editorial Board for the Journal, Metabolism. He is the Co-Editor for the Journal, Molecular Genetics and Metabolism-Reports. He is the co-chair for the Metabolomics Working Group of the NIH Undiagnosed Diseases Network (UDN). His review panel and other NIH service work included serving as a Member of Gene Therapy and Inborn Errors (GTIE) Special Emphasis Panel, a Member of the Therapeutic Advances for Genetic Diseases (TAG) study section and the Chairman of the Rare Diseases Clinical Research Network Data and Safety Monitoring Board 2. Dr. Berry has been the recipient of both NIH and non-federal grant awards. He has published over 200 peer-reviewed papers and over 45 book chapters. He was the recipient of the 2004 Emmanuel Shapiro SIMD Award. Dr. Berry’s primary clinical and basic science research efforts are focused on Galactosemia and, secondarily, on myo-inositol metabolism in the brain particularly during fetal development.

 

Pamela L. Flodman, MSc, MS, LCGC

Adjunct Professor, Pediatrics

School of Medicine

Director, Graduate Program in Genetic Counseling

Department of Pediatrics

University of California, Irvine

101 The City Drive

Orange, CA 92868

Tel: (714) 456‐5789

E‐mail: pflodman@uci.edu

 

Pamela Flodman, MSc, MS, LCGC is an Adjunct Professor in the Department of Pediatrics at the University of California, Irvine, where she serves as the program director for the Graduate Program in Genetic Counseling and as the Interim Chief of the Division of Genetic and Genomic Medicine.  Ms. Flodman received her MSc in applied statistics at the University of Oxford and her MS in genetic counseling at UC Irvine.  In her professional role as a board-certified, licensed genetic counselor, she works with individuals and families to assist them in understanding and adapting to the medical, psychological and familial implications of genetic variation for their health.  Her research focus is in genetic risk calculation and in the application of quantitative analysis to genetic data, to enable accurate communication of risk to patients and their families, and counseling strategies to promote informed decision making.

 

Angela Grochowsky, MD, FACMG, FAAP, FACP

Associate Professor

Vanderbilt University Genetics

3319 Acklen Avenue

Nashville, TN 37212

Tel: 256-566-4849

Email: angela.grochowsky@vumc.org


Dr. Angela Grochowsky is from a small town in Alabama near Huntsville. She pursued her undergraduate degree at The University of Alabama in Huntsville. Dr. Grochowsky obtained her medical degree from The University of Alabama School of Medicine in 2013. She then completed her combined Internal Medicine and Pediatrics residency at Indiana University. She went on to do her Medical Genetics fellowship at The National Institutes of Health and Johns Hopkins consortium. In addition, she went on to complete an additional fellowship in Medical Biochemical Genetics at The National Institutes of Health. She is board certified in Internal Medicine, Pediatrics, Medical Genetics, and Biochemical Genetics.  Dr. Grochowsky is passionate about caring for patients with genetic and biochemical disorders ranging from newborn to the end of life. She is highly interested in transitional care for patients with complex medical needs and has started a new Adult Down syndrome clinic at Vanderbilt over the past couple of years. She also loves teaching and helping healthcare professionals learn, understand, and appreciate the significance of genetics in patient care. She is the new Program Director for the Genetics Residency program at Vanderbilt and thoroughly enjoys spending time with residents and trainees.  When Dr. Grochowsky is not seeing patients or teaching she enjoys spending time with her 3 year old daughter, 1 year old son, french bulldog and husband. She is living out her dream job and truly loving being a Medical Geneticist.