Editor-in-Chief
Robert D. Steiner, MD
University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, United States of America
ORCID: 0000-0003-4177-4590
Potential conflicts: Consultant for and equity interest in Acer Therapeutics and PTC Therapeutics. Current or past consultant for: Aeglea, Best Doctors/Teladoc, E-Scape Bio, Health Advances, Leadiant, Precision for Value, and Travere. Honoraria: Children’s Mercy Research Institute, France Foundation, and Medscape. Dr. Steiner is an employee of PreventionGenetics, a subsidiary of Exact Sciences. Dr. Steiner has had research funding from Alexion and the Smith Lemli Opitz Foundation. Expert reviewer/witness for legal cases related to potential child maltreatment and malpractice claims. Limited term employee of State of Wisconsin. Patents awarded but not licensed (no revenue) in the area of newborn screening for sterol and bile acid disorders.
Volunteer Board Membership: Smith Lemli Opitz Syndrome Foundation Medical/Scientific Advisory Board, Phoenix Nest, CTX Alliance/Jonah’s Just Begun
Robert D. Steiner, MD, FAAP, FACMG, has served as Editor-in-Chief since 2019. Previously, he served as Deputy Editor from 2011 to 2019 and a section editor beginning in 2006. He is Professor (Clinical) of Pediatrics at the University of Wisconsin (UW) School of Medicine and Public Health, Chief Medical Officer for PreventionGenetics, and a geneticist at Marshfield Clinic Health System. After obtaining his MD from UW, he completed a residency in pediatrics at the University of Cincinnati/Cincinnati Children’s Hospital and Medical Center. Following residency, Dr. Steiner trained in medical genetics at the University of Washington/Seattle Children’s Hospital and Regional Medical Center. He is board certified in pediatrics, clinical genetics, and clinical biochemical genetics.
Steiner’s previous academic positions included Executive Director of the Marshfield Clinic Research Institute and Chief Science Officer at the Marshfield Clinic, as well as Executive Associate Director of the UW Institute for Clinical and Translational Research. For most of his career, he was a faculty member at Oregon Health and Science University (OHSU), ultimately named Credit Unions for Kids Professor of Pediatric Research, Professor of Pediatrics and Molecular and Medical Genetics, and (tenured) Vice Chair for Research in Pediatrics. Dr. Steiner is an active clinician with specific interests in inherited metabolic diseases, metabolic bone diseases, laboratory testing, rare disease therapeutics, and newborn screening. In addition, he is an accomplished researcher, having served as the Principal Investigator for more than a dozen clinical trials and research studies on Smith-Lemli-Opitz syndrome (SLOS), osteogenesis imperfecta, phenylketonuria, lysosomal storage diseases, neuronal ceroid lipofuscinosis, and other disorders. Steiner has authored or co-authored more than 170 peer-reviewed original research articles, as well as more than 80 reviews, book chapters, and letters. He’s also been a longtime reviewer and award-winning editor for a number of journals. He is a fervent patient advocate, having served in many leadership positions and on several advisory boards for patient advocacy groups.
Dr. Steiner is a member of several professional societies, including the American Society of Human Genetics, the American College of Medical Genetics and Genomics (ACMG), the Society for Inherited Metabolic Disorders, and the Society for the Study of Inborn Errors of Metabolism. He has had numerous appointments on national committees and advisory boards, including as a member and treasurer of the ACMG Board of Directors and the Health Care System Research Network Board of Governors, the Institute of Medicine advisory panel on accelerating rare disease research, serving as Chair of the ACMG working group on Pompe disease, a Standing and Steering Committee member of the Newborn Screening Translational Research Network, an NIH Study Section ad hoc member, and a member of the ACMG Therapeutics Committee. He was a member of the expert panel convened in 2005 by the US Health and Human Services Health Research Services Agency, which reviewed the status of newborn screening in the United States and recommended expansion of the program to the US Secretary of Health and Human Services.
Deputy Editor-in-Chief
David T. Miller, MD, PhD
Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
ORCID: 0000-0003-1060-1945
Potential conflicts: Astra-Zeneca (Honoraria); SPARK Medical Genetics Committee (Honoraria); UptoDate (Royalties)
David T. Miller, MD, PhD, FAAP, FACMG served as section editor since 2018. He is Associate Professor of Pediatrics at Harvard Medical School where he is also Co-Director of the Advanced Integrated Science Course in Human Genetics. He is a practicing Medical Geneticist at Boston Children’s Hospital, and Associate Molecular Pathologist at Brigham and Women’s Hospital. After receiving his MD and PhD from Washington University School of Medicine in St. Louis, he completed a residency in pediatrics at Yale-New Haven Hospital, and residency/fellowship in medical genetics and clinical molecular genetics at Harvard Medical School. He is board-certified in Clinical Genetics and Clinical Molecular Genetics.
Dr. Miller is an active clinician and clinical researcher with specific interests in Neurofibromatosis, neurodevelopmental disorders, and clinical genetic test implementation and utility, particularly for chromosomal microarray and exome sequencing. He directs the Neurofibromatosis Research Initiative at Boston Children’s Hospital. Dr. Miller is a member of several professional societies, including the American College of Medical Genetics and Genomics (ACMG), American Society of Human Genetics (ASHG), American Academy of Pediatrics (AAP), and American Medical Association (AMA). He has led or served on several national committees and advisory boards focused on best practices for clinical genetics and genetic testing, including: Chair of ACMG’s Professional Practice and Guidelines Committee; Co-Chair of ACMG’s Secondary Findings Maintenance Working Group; Member of ACMG’s Evidence-Based Medicine Working Group; Steering Committee Member for the International Standards for Cytogenomic Arrays Consortium; and Medical Genetics Committee Member for SPARK, a project of the Simons Foundation Autism Research Initiative (SFARI).
Chair, Ethics Advisory Committee and Ethical, Legal and Social Issues Editor
Kyle B. Brothers, MD, PhD
University of Louisville School of Medicine, Louisville, Kentucky, United States of America
ORCID: 0000-0002-8550-9724
Potential conflicts - Norton Healthcare (Employer); Baylor College of Medicine (Consultant); Geisinger Health (Consultant); Adolescent Brain Cognitive Development Study (funded by NIH) (Honoraria); Advisory Committee on Heritable Disorders in Newborns and Children (Honoraria); Cleveland Institute for Developmental Biology (Honoraria); NHGRI Council (Honoraria);
Technical Editor
Peter Freeman, PhD
University of Manchester, Manchester, United Kingdom
ORCID:0000-0002-5838-5404
Potential conflicts: None
Peter Freeman is a researcher and lecturer in Healthcare Sciences (Clinical Bioinformatics, Genomics) at the University of Manchester (UK). He completed his PhD in 2007, investigating the role that mobile DNA elements played in shaping the human genome. He had a successful postdoctoral career, developing novel methodologies to analyze regions of the genome that are very difficult to analyze, as well as more novel approaches aiming to improve genome-wide analysis in general. In 2015, he switched career paths from laboratory work, into the bioinformatics space. He taught himself the principles of Python programming and software development and went on to create the genomic sequence variant nomenclature software VariantValidator (https://variantvalidator.org/)
Promoting the findability and interoperability of genetic data is the cornerstone of his research and teaching environment. This ethos is shared by global committees of which he is a member, within which it is widely accepted that if genetic variants are correctly named and classified using identifiable and interoperable standards, in time the genomic medicine community will be able to use the data more effectively to speed up and improve the safety of diagnostics.
Peter has been working with variant nomenclature since 2015 as the developer of VariantValidator. He was made a member of the Human Genome Organisation (HUGO) Human Genome Variation Society (HGVS) Variant Nomenclature Committee in 2018 and the HUGO Reporting of Sequence Variants (RSV) Committee in 2020. Since VariantValidator was adopted by the HUGO RSV committee, he and the VariantValidator contributors have assisted many authors with their nomenclature queries. VariantValidator has always evolved based on user feedback, and it is user experiences and comments/requirements that drive its evolution so that it can more effectively help them to precisely describe variants.
Peter has a keen interest in education. As a lecturer, he teaches on the UK National Health Service (NHS) Scientist Training Programme in genomics themes. His primary role is teaching variant nomenclature and classification to trainee NHS scientists, who become part of the NHS genomic medicine service. His goal in his editorial role is, in collaboration with the HUGO RSV, to set in motion pathways that improve the quality of variant reporting and classification in biomedical journals (as well developing software and guidelines that support authors and editors), thus making genomic data more findable and usable in a clinical setting. Our hope is that this effort will play a part in reducing the genomic medicine diagnostic odyssey.
Section Editors
Biochemical Genetics
V. Reid Sutton, MD
Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, United States of America
ORCID: 0000-0002-6450-8554
Potential conflicts: Ultragenyx (Grant), Arcturus Therapeutics (Grant), elevate bio (Consultant); skipta (Consultant); Aceragen Biopharma (Honoraria); Chinese University of Hong Kong (Honoraria).
Biomedical Informatics
Peter Tarczy-Hornoch, MD, FACMI
University of Washington Department of Biomedical Informatics and Medical Education, Seattle, United States of America
ORCID: 0000-0003-1047-179X
Potential conflicts: University of Rochester (Honoraria); University of Utah (Honoraria).
Germline Cancer Genetics
Douglas R. Stewart, MD
National Cancer Institute, Bethesda, Maryland, United States of America
ORCID: 0000-0001-8193-1488
Ephrat Levy-Lahad, MD
Shaare Zedek Medical Center, Jerusalem, Israel
ORCID: 0000-0002-2637-1921
Potential conflicts: Astra Zeneca SAB meeting; KSM research and Innovation (Consultant)
Katherine L. Nathanson, MD
University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America
ORCID: 0000-0002-6740-0901
Clinical Genetics and Genomics
Fowzan S Alkuraya, MD (Hons) ABP ABMG
King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
ORCID: 0000-0003-4158-341X
Potential Conflicts - Neutrolis (SAB Consultant); Illumina (Consultant); Middle East Genetics and Metabolic Academy (Lecture Fees)
Beth A. Kozel, MD, PhD
National Heart Lung and Blood Institute, Bethesda, Maryland, United States of America
ORCID: 0000-0002-9757-7118
Potential conflicts - None Declared
Kandamurugu Manickam, MD
The Ohio State Univeristy, Nationwide Children’s Hospital, Department of Pediatrics and Department of Neurology, Columbus, Ohio, United States of America
ORCID: 0000-0001-6269-7710
Potential conflicts - None declared
Suma Shankar MD, PhD
University of California Davis, Davis, California, United States of America
ORCID: 0000-0001-7100-5691
Potential conflicts - Sanofi Genzyme (Lecture Fees)
David A. Stevenson, MD
Stanford University, Stanford, California, United States of America
ORCID: 0000-0001-8601-0020
Potential Conflicts - Soleno (Grant), GLG/Gerson Lehrman Group® (Consultant), Expert Witness legal cases (Salary); Alexion (Consultant)
Cytogenetics/Clinical Genetics
Kathleen A, Leppig, MD
Kaiser Permanente Washington, Seattle, Washington, United States of America
ORCID: 0000-0002-8678-6221
Potential conflicts: Atlas Genomics (Consultant), Hanoi National Pediatric (Honoraria)
Early Career Editor
Laura Duque Lasio, MD, FACMG
Washington University School of Medicine, St. Louis
ORCID: 0000-0003-2877-5556
Potential conflicts - None declared
Binu Porath, PhD, FACMG
Labcorp Genetics and Women’s Health
ORCID: 0000-0002-8500-6609
Potential conflicts - None declared
Economics and Precision Medicine
Mercy Mvundura, PhD
PATH, Seattle, Washington, United States of America
ORCID: 0000-0002-7711-9558
Potential conflicts - None declared
Education
Shweta Dhar, MD, MS, FACMG, FACP
Baylor College of Medicine
ORCID: 0000-0003-0416-083X
Potential conflicts: Receives royalties from Elsevier for handbook on adult clinical genetics and genomics
Ethical, Legal and Social Issues
Mildred K. Cho, PhD
Stanford University, Stanford, California, United States of America
ORCID: 0000-0003-1669-3932
Potential conflicts - None Declared
Genetic Counseling
Robin L. Bennett, MS, CGC
University of Washington Medical Center, Seattle, Washington, United States of America
ORCID: 0000-0001-6748-9582
Potential Conflicts – None Declared
Health Services/Implementation Research
Maren T. Scheuner, MD, MPH
University of California San Francisco and San Francisco VA Health Care System, San Francisco, California, United States of America
ORCID: 0000-0002-9105-1369
Potential conflicts - Blue Cross Blue Shield Association (Honoraria)
R. Ryanne Wu, MD, MHS
Duke University, Durham, North Carolina, United States of America
ORCID: 0000-0002-7655-3096
Potential Conflicts - GE Healthcare (Spouse Salary), MeTree&You (Founder)
Laboratory Genetics and Genomics
Catherine W. Rehder, PhD, FACMG
Duke University, Durham, North Carolina, United States of America
ORCID:0000-0003-4924-9010
Potential Conflicts - Illumina (Consultant), RTI International (Consultant); Alexion (Consultant); Amicus Therapeutics (Consultant)
Karen E. Weck, MD
The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America
ORCID: 0000-0002-8516-333X
Potential conflicts: BlueCross BlueShield NC (Consultant), serves on the board for American Medical Pathology society
Patient Editor
Peter Freeman PhD
The University of Manchester, Manchester, United Kingdom
ORCID:0000-0002-5838-5404
Potential conflicts: None
Reproductive Genetics
Nancy C. Rose, MD
The University of Utah, Salt Lake City, Utah, United States of America
ORCID: 0000-0003-4428-1214
Potential conflicts - Mother to Baby,; Utah Obstetric (Consultant); NCC for Regional Genetics Networks (Consultant)
Public Health, Epidemiology & Personalized Medicine
Katrina Goddard, PhD
National Cancer Institute, Bethesda, Maryland, United States of America
ORCID: 0000-0001-9535-8993
Potential conflicts: WebMD (Spouse Salary)
*Dr. Goddard is serving in her personal capacity.
Sonja A. Rasmussen, MD, MS
Johns Hopkins University, Department of Genetic Medicine, Baltimore, Maryland, United States
ORCID: 0000-0002-0574-4928
Potential conflicts: Teva (Consultant), Hoffmann-LaRoche (Consultant); Hun School of Princeton (Consultant); Morrison and Foerster Law Firm (Consultant); Newell Brands (Consultant); Texas Council for Developmental Disabilities (Consultant); Biohaven Pharmaceuticals (Honoraria)
Social Media
April D. Adams, MD, MS, FACMG
Baylor College of Medicine, Houston, Texas, United States of America
ORCID: 0000-0001-7776-2941
Potential conflicts - None declaredPotential conflicts - None Declared
Maria Duque Lasio, MD, FACMG
Washington University School of Medicine, St. Louis
ORCID: 0000-0003-2877-5556
Potential conflicts - None declared
Statistics
Xianyong Yin, PhD
University of Michigan, Ann Arbor, Michigan, United States of America
ORCID: 0000-0001-6454-2384
Potential conflicts - None Declared
Statistical Genetics
Steve J. Schrodi, PhD
University of Wisconsin-Madison Department of Medical Genetics, Madison, Wisconsin, United States of America
ORCID: 0000-0003-2304-8528
Potential conflicts - None Declared
Therapeutics
Dwight D. Koeberl, MD, PhD
Duke University School of Medicine, Durham, North Carolina, United States of America
ORCID: 0000-0003-4513-2464
Potential Conflicts - AskBio (Major Stockholder), Takeda (Consultant), Sangamo (Consultant, grant)
Executive Managing Editor
Jan Higgins, PhD, ELS
American College of Medical
Genetics and Genomics
ORCID: ORCID: 0000-0002-5342-382X
Communications and Public Relations
Kathy Moran, MBA
American College of Medical Genetics and Genomics
News Editor
Podcast Producer
