Date of Release: August 6, 2021
Expiration Date: August 1, 2023
Credits offered: CME, P.A.C.E.®
Estimate time of completion: 32 hours
Course must be completed by the expiration date.
www.acmgeducation.net
Course Description
The ACMG Genetics and Genomics Review Course was held July 16 – 25, 2021. This digital edition offers hosts the recorded presentations, recorded Q&A with faculty, and a practice exam. Topics include an exam preparation and lectures that cover a broad range of genetic and genomic topics presented by recognized experts in the field (see list below).
Topics include:
- Cell Biology/Genomics
- Molecular Biology
- Laboratory Genetics and Genomics
- Genetic Transmission
- Biochemical Genetics
- Developmental Genetics
- Cancer Genetics
- Genetic Counseling & Risk Assessment
- Newborn Screening
- Neurogenetics
- Reproductive Genetics
- Systems-Based Disorders
- Genomic Medicine
Learning Objectives
Exam Preparation Tips - Gary S. Gottesman, MD, FAAB, 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 - Cindy L. Vnencak-Jones, 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 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 NonInvasive 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 - Bruce R. Korf, MD, PhD, 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 - Gary S. Gottesman, MD, FAAP, FACMG
- Identify areas where further preparation is needed
- Direct post-course preparation to specific resources
- Optimize exam performance
Systems-Based Disorders II - John A. Phillips, III, 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
- Employ filters to analyze genomic data
- Contrast analytical and clinical sensitivity
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
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.
Course Directors
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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
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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).
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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@vanderbilt.edu
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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
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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
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"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
Mail Code: 4482
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.
Robert Hufnagel, MD, PhD, FACMG
Chief, Medical Genetics and Ophthalmic Genomics Unit
Chief, Ophthalmic Genomics Laboratory
NIH: National Eye Institute
10 Center Drive
Building 10, Room 10N109
Bethesda, Maryland 20814
Tel: (301) 503-1305
E-mail: robert.hufnagel@nih.gov
Dr. Robert Hufnagel is a clinician-scientist in the Ophthalmic Genetics and Visual Function Branch of the National Eye Institute. This branch of the National Institutes of Health plans and conducts clinical and laboratory research of gene expression, molecular genetics, cell biology, and molecular interactions important to the eye, and applies clinically relevant research findings to the prevention, diagnosis, and treatment of diseases affecting the eye and the visual system.
The goal of Dr. Hufnagel’s cutting edge research program applies the scientific approaches of developmental biology and molecular genetics to hereditary ophthalmic diseases to improve diagnosis and ultimately vision for these patients. Dr. Hufnagel has developed a translational research program using genomic sequencing to identify disease etiologies to discover novel disease genes and molecular targets for therapeutic trials.
His medical and research training has centered around clinical genetics, next-generation sequencing, bioinformatics, genome editing, induced pluripotent stem cells, and animal models including mouse, zebrafish, and lizard.
Dr. Hufnagel received his Ph.D. in neuroscience and his M.D. from The University of Cincinnati. He has published numerous publications and received many accolades for his work including the Director’s Award from the National Eye Institute.
Gary S. Gottesman, MD, FAAP, FACMG
Center for Metabolic Bone Disease and Molecular Research
Shriners Hospitals for Children – St. Louis
4400 Clayton Avenue
St. Louis, MO 63110‐1624
SHC Genomics Institute
2900 North Rocky Point Drive, Tampa, FL 33607
Tel: (314) 872‐8305
E‐mail: ggottesman@shrinenet.org
Gary S. Gottesman, MD, is the medical geneticist in the Center for Metabolic Bone Disease and Molecular Research at the Shriners Hospital for Children in St. Louis and Medical Director of the Shriners Hospitals for Children Genomics Institute since its inception in early 2019. He is also Adjunct Associate Professor of Pediatrics at Saint Louis University School of Medicine. He will be rejoining the Faculty at Washington University School of Medicine July 1, 2021 as Professor of Pediatrics in the Divisions of Endocrinology & Diabetes and Genetics & Genomic Medicine. As a Fellow of the American College of Medical Genetics and Genomics he is a faculty member for the Genetics and Genomics Review Course and previously served on the ACMG Social, Ethical and Legal Issues Committee.
After graduating from Harvard College he attended the University of Michigan Medical School and completed his pediatrics and medical genetics training at the St. Louis Children’s Hospital and Washington University School of Medicine. He was in the first class of the Howard Hughes Medical Institute - National Institutes of Health Research Scholars Program in 1985-1986. His medical genetics fellowship was funded by the Pediatric Scientist Development Program. He is board certified in Pediatrics and Medical Genetics.
After almost two years on the faculty at Washington University School of Medicine, jointly working at the Shriners Hospitals for Children-Saint Louis, Dr. Gottesman moved to the Saint Louis University (SLU) School of Medicine for several years. He left for a position at the National Human Genome Research Institute and subsequently moved to the National Institute on Aging. Dr. Gottesman returned to SLU as Director of the Division of Medical Genetics in 2003. He served on the Cardinal Glennon Children’s Medical Center Ethics Committee for seven years. In 2008, he became Academic Chair of the Department of Physician Assistant Education and Program Director of the Physician Assistant Program at SLU, before returning to the Shriners Hospitals for Children-St. Louis in early 2011.
Dr. Gottesman's areas of interest in medical genetics include: metabolic bone diseases, heritable disorders of connective tissue, skeletal dysplasias, neurofibromatosis, neurogenetics, clinical dysmorphology, inborn errors of metabolism, medical ethics and education.
Fady M. Mikhail, MD, PhD, FACMG
Co‐Director, Cytogenetics Laboratory
Professor, Department of Genetics, University of Alabama at Birmingham
720 20th Street South, Kaul Genetics Building,
Room #314A
Birmingham, AL 35294
Tel: (205) 934 9588
E‐mail: fmikhail@uab.edu
Dr. Mikhail graduated from the Faculty of Medicine, University of Alexandria, Egypt in 1990. He completed his Clinical Pathology residency at the Department of Clinical Pathology in the same University. He received an Egyptian government scholarship to conduct this PhD thesis research work in the United States where he worked as a visiting scholar in the Pathology Department, School of Medicine, University of Illinois at Chicago, IL. He earned his PhD from the Faculty of Medicine, University of Alexandria, Egypt in 2003. Dr. Mikhail did his Clinical Cytogenetics fellowship at the Department of Genetics, School of Medicine, University of Alabama at Birmingham, AL, and was certified by the ABMGG in 2007. He joined the faculty in the Department of Genetics, School of Medicine, University of Alabama at Birmingham, AL as an Assistant Professor in 2006. He was promoted to an Associate Professor in 2012 and to a full Professor in 2017. Dr. Mikhail served on the ACMG Laboratory Quality Assurance (Lab QA) Committee from 2011 to 2021 and served as the chair of this committee from 2019 to 2021. His research interests include identification of novel constitutional genomic disorders caused by microdeletions and microduplications using chromosomal microarray (CMA) technologies with special interest in neurodevelopmental disorders, and characterization of the clinical phenotype, molecular breakpoints, mechanism of rearrangement, as well as the functional categorization of the involved genes. Dr. Mikhail’s research interests also include identification of novel cytogenetic rearrangements in patients with various hematologic malignancies that might have a causal role in the oncogenic process using molecular cytogenetic techniques, and identification of the underlying genes.
Sharon E. Plon, MD, PhD, FACMG
Professor, Pediatrics/Hematology‐Oncology
Professor, Molecular and Human Genetics
Human Genome Sequencing Center
Director, Medical Scientist Training Program
Department of Pediatrics
Baylor College of Medicine
Feigin Center Room 1200.18
1102 Bates Street
Houston, TX 77030
Tel: (832) 824‐4251
E‐mail: splon@bcm.edu
Dr. Sharon Plon is a board-certified medical geneticist and a longstanding cancer genetics researcher including leading to the discovery of new cancer susceptibility genes and the implementation of genomic testing in medicine. Dr. Plon holds the Dan L Duncan Comprehensive Cancer Center Professorship at Baylor College of Medicine in the Departments of Pediatrics/Hematology-Oncology, Molecular and Human Genetics and Human Genome Sequencing Center. Drs. Plon and D. William Parsons were principal investigators of the NHGRI/NCI-funded BASIC3 clinical trial on the incorporation of exome sequencing into the care of newly diagnosed childhood cancer patients and this study is now being expanded into diverse patient populations across Texas (KidsCanSeq trial). Since 2013, Dr. Plon has served as one of the Principal Investigators of the Clinical Genome (ClinGen) Resource and chairs the ClinGen hereditary cancer effort. She currently co-chairs the germline reporting effort of the national NCI/COG Pediatric MATCH Precision Oncology trial. Dr. Plon is also working closely with Dr. Philip Lupo on a population-based study to understand the association between birth defects and cancer risk in children. Dr. Plon recently finished terms on the Board of Directors of the American Society of Human Genetics and the NIH Human Genome Research Advisory Council.
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Heidi Rehm, PhD, FACMG
Center for Genomic Medicine, Massachusetts General Hospital
Chief Genomics Officer, Department of Medicine, MGH
Professor of Pathology, MGH, BWH and Harvard Medical School
Medical Director, Broad Institute Clinical Research Sequencing Platform
Center for Genomic Medicine
Simches Research Building, MGH
185 Cambridge Street, Boston, MA 02114
Tel: 617-643-3217 (MGH M/W)
Email: hrehm@mgh.harvard.edu
Broad Institute of Harvard and MIT
105 Broadway
3rd floor: Rm 375
Tel: 617-714-7939 (Broad T/T/F)
Email: hrehm@broadinstitute.org
Admin: Lauren Witzgall lwitzgal@broadinstitute.org
Twitter: @HeidiRehm
Laboratory Website: RehmLab.org and the-tgg.org
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Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital working to integrate genomics into medical practice. She is a board-certified laboratory geneticist, Medical Director of the Broad Institute Clinical Research Sequencing Platform and Professor of Pathology at Harvard Medical School, working to guide genomic testing for clinical and clinical research use. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to also aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role as vice chair of the Global Alliance for Genomics and Health. Rehm is also a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US and co-leading gnomAD, the Genome Aggregation Database.
Rehm received her bachelor's degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss. She also completed a fellowship in Clinical Molecular Genetics at Harvard Medical School followed by board certification by the ABMGG.
Cindy L. Vnencak-Jones, PhD, FACMG
Professor of Pathology, Microbiology & Immunology and Pediatrics and Medical Director, Molecular Diagnostics Lab, Vanderbilt University Medical Center (VUMC).
Vanderbilt University Medical Center
4918C TVC
Nashville, TN 37232
Tel: (615) 343-9074
E-mail: cindy.vnencak-jones@vumc.org
Cindy Vnencak-Jones received her Ph.D. in Human Genetics from the Medical College of Virginia-Virginia Commonwealth University in 1985 and completed her post-doctoral fellowship at VUMC in the Department of Pediatrics. In 1989, she established the clinical Molecular Diagnostics Lab at VUMC performing DNA/RNA based testing for inherited diseases, pharmacogenetics testing to optimize drug selection and proper dosing of medication and molecular profiling of solid tumors and hematopoietic neoplasms to enable genome guided patient care.
As a researcher, Dr. Vnencak-Jones has published over 130 articles and book chapters in pharmacogenetics, molecular profiling of cancer, diagnosis of inherited diseases, and detection of infectious agents. She is on the editorial board for the Journal of Molecular Diagnostics, Archives of Pathology and Laboratory Medicine and Molecular Diagnosis & Therapy.
As Medical Director of the Molecular Diagnostics lab, Dr. Vnencak-Jones trains residents in molecular diagnostics and serves as the program director for the VUMC ABMGG-LGG fellowship program and as the associate director for the VUMC ABP - Molecular Genetic Pathology fellowship program. Dr. Vnencak-Jones has served the Association for Molecular Pathology, the American College of Medical Genetics and Genomics, and was on the Board of Directors for the American Board of Medical Genetics and Genomics from 2011 to 2015.
Louise E. Wilkins‐Haug, MD, PhD, FACMG
Division Director, Maternal Fetal Medicine and Reproductive Genetics
Brigham & Women's Hospital
Professor, Obstetrics/Gynecology
Harvard Medical School
75 Francis Street
Boston, MA 02115
Tel: (617) 732‐4208
Fax: (617) 264‐6310
E‐mail: lwilkinshaug@partners.org
Louise Wilkins-Haug is the Division Director of Maternal Fetal Medicine and Reproductive Genetics in the Department of Obstetrics and Gynecology at the Brigham and Women’s Hospital. She is board-certified in Medical Genetics, Obstetrics and Gynecology and Maternal Fetal Medicine. Dr. Wilkins-Haug received her bachelor's degree from James Madison University in Biology. She completed her PhD in Human Genetics at Medical College of Virginia. She received her MD degree in Medicine at Stanford University School of Medicine. She has over two decades of experience leading a prenatal Down syndrome screening program and currently oversees the genetic counseling, perinatal consultation, fetal treatment and diagnostic testing at BWH. She is an active clinical provider in the Maternal Fetal Medicine practice and provides continuity care for women with high risk pregnancies. Dr. Wilkins-Haug has been the lead fetal interventionist for a 20-year collaborative program with Boston Children's Hospital to alter the natural in utero history of aortic stenosis evolving to hypoplastic left heart syndrome. The program established the safety and efficacy of fetal aortic valve dilation, and continues to assess predictors of success, examines cardiac, medical and neurologic outcomes and participates in the training of individuals who have successfully established similar programs at institutions worldwide.
Anthony Wynshaw‐Boris, MD, PhD, FACMG
James H. Jewell Professor of Genetics
Chair, Department of Genetics and Genome
Sciences
Case Western Reserve University, School of
Medicine
University Hospitals Case Medical Center
One 10900 Euclid Avenue, BRB731
Cleveland, OH 44106‐4955
Tel: (216) 368‐0581
E‐mail: ajw168@case.edu
Tony Wynshaw-Boris received his MD, PhD degrees from Case Western Reserve University School of Medicine. His PhD was under the direction of Richard Hanson, PhD, where he elucidated the sequences within the PEPCK promoter required for activation by cAMP and glucocorticoids.
He did his residency at Rainbow Babies and Children's Hospital, in Pediatrics followed by a medical genetics fellowship at Boston Children's Hospital. While in Boston, he did a postdoctoral fellowship at Harvard Medical School under the direction of Philip Leder, MD, where he studied mouse models of developmental disorders.
In 1994, Dr. Wynshaw-Boris set up an independent laboratory at the National Human Genome Research Institute of the NIH, where he initiated a program using mouse models to study human genetic diseases, with a focus on neurogenetic diseases. In 1999, he moved to UCSD School of Medicine, where he became Professor of Pediatrics and Medicine, as well as Chief of the Division of Medical Genetics in the Department of Pediatrics.
In 2007, he moved to UCSF School of Medicine, where he was the Charles J. Epstein Professor of Human Genetics and Pediatrics, and the Chief of the Division of Medical Genetics in the Department of Pediatrics. At UCSF, in addition to mouse models, his laboratory began to use patient-derived induced pluripotent stem cell (iPSC) models to study human disease. In June 2013, he returned to Cleveland to become the Chair of the Department of Genetics and Genome Sciences. His laboratory continues to use mouse and iPSC models to shed light on mechanisms of neurogenetic diseases with the ultimate goal of providing novel therapies.
Dr. Wynshaw-Boris was President of the American Society for Human Genetics for 2020, and is now Past President in 2021. He was appointed to the National Advisory Child Health and Human Development Council of the Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, in 2019. He has also been elected to membership in the American Society for Clinical Investigation, the Association of American Physicians, the American Pediatric Society, and he was elected as Fellow of the American Association for the Advancement of Science.
Continuing Education Information
CME, P.A.C.E®. Educational Credits
Accreditation
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 32 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
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 32 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider #50-11878. This course is registered # 20-877292 with CEBroker. ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®
Claiming your Educational Credits
Complete the activity, score 80% or better on the post-test (retakes allowed), and carefully complete the evaluation form.
Financial Disclosures
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It is the policy of the American College of Medical Genetics and Genomics to plan and implement all of its educational activities in accordance with the ACCME Essentials and Areas and ACCME® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Commercial Support, everyone (speakers, moderators, committee members and staff) who is in a position to control the content of an educational activity certified for AMA PRA Category 1 Credit™ is required to disclose all financial relationships with any commercial interests within the past 12 months that creates a real or apparent conflict of interest. Individuals who do not disclose will be disqualified from participating in a CME activity.
This disclosure pertains to relationships with ACCME-defined commercial interests whose products or services may be related to the subject matter of the presentation topic. Any real or apparent conflicts of interest related to the content of the presentations must be managed prior to the educational activity. ACMG will identify, review and resolve all conflicts of interests prior to an educational activity being delivered to learners.
NOTE:
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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.
HIPAA Compliance by Faculty
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 at that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available upon request.
Disclaimer
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 s or exclusive of other procedures and s that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
Questions regarding CE credit should be directed toeducation@acmg.net
Financial Disclosures
The following reported disclosures and none are relevant to the content of this course. All of the relevant financial relationships listed for these individuals have been mitigated.
The following have reported disclosures:
Gerard Berry, MD, FACMG
Dr. Berry is on the Scientific Advisory Board for Genome Medical and Cobalt Biomedicine, Inc. He is a
consultant for Aeglea BioTherapeutics, Inc., Homology Medicines, Inc., Acer Therapeutics, Inc., Hyperion
Therapeutics, Inc. and Biomarin Pharmaceuticals, Inc.
Bruce R. Korf, MD, PhD, FACMG
Dr. Korf is a consultant for SpringWorks and AstraZeneca. He is on the Scientific Advisory Board for
Genome Medical and Envision Genomics. He is on the Board of Directors for the American College of
Medical Genetics and Genomics and the Children’s Tumor Foundation. He is an advisor for the
Neurofibromatosis Therapeutic Acceleration Project, a Founding Member of Envision Genomics. He is
the editor for the American Journal of Human Genetics.
Anthony J. Wynshaw‐Boris, MD, PhD, FACMG
Dr. Wynshaw‐Boris is president‐elect of the American Society of Human Genetics. He is executive editor
of Human Molecular Genetics (Oxford University Press). He is a member of the Advisory Council of the
Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. He is a member of the National
Advisory Child Health and Human Development Council of NICHD.
The following faculty members, staff and contributors have nothing to disclose:
Miriam G. Blitzer, PhD, FACMG
Pamela L. Flodman, MSc, MS, LCGC
Gary S. Gottesman, MD, FAAP, FACMG
Elaine Lyon, PhD, FACMG
Fady M. Mikhail, MD, PhD, FACMG
John A. Phillips, III, MD, FACMG
Sharon Plon, MD, PhD, FACMG
Louise E. Wilkins‐Haug, MD, PhD, FACMG
Jane Radford, MHA, CHCP (ACMG Staff)