Workshop: Genome mapping nomenclature and ISCN 2024

  • Register
    • Regular Member - $15
    • Early Career Member - $8
    • Resident/Clinical Fellow Member - $8
    • Postdoctoral Fellow Member - $8
    • Graduate Student Member - $8
    • Undergraduate Student Member - $8
    • Emeritus Member - $8
    • Life Member - $15
    • Trainee Member - $8
    • Nonmember - $30

Participants will gain an understanding of the new cytogenomic mapping nomenclature and see how it compare to array and sequence ISCN nomenclature in different settings through worked examples and an interactive question and answer session plus an audience quiz. This workshop will fill in the current knowledge gap on how to report cytogenomic mapping results from established and emerging cytogenomic techniques. The interactive session will enable participants to see how much they have understood and where further education is required. This online workshop will be more beneficial to participants than independent learning as the workshop is interactive; enabling participants to ask questions, pose complex cases to the experts that require a solution and to work through some examples with real-time support.

  • The workshop will present examples of worked examples as well as educational tools available for laboratories and individuals.
  • The workshop will provide an interactive question and answer session of cases submitted by participants (deadline for submission 30th August). Cases will be reviewed during the September 18th workshop.
  • Finally, there will be an audience quiz and Q & A session. This online workshop will enable participants to ask questions, pose complex cases to the experts that require a solution and to work through some examples with online support.

Learning Objectives

  • Understand the fundamental rules for cytogenomic  Genomic Mapping nomenclature
  • Practical application of the cytogenomic Genomic Mapping nomenclature in a research and diagnostic setting
  • The ability to differentiate between NGS, array and genomic mapping nomenclature 
  • To be able to formulate and use the new cytogenomic Genomic Mapping nomenclature in their own laboratories, clinical practices and in publications

Ros Hastings, BSc, PhD, FRCPath

Dr. Ros Hastings is the Chair of The International System for Cytogenomic Nomenclature (ISCN) and has served on the committee since 2019. She is also a consultant for the Genomics Quality Assessment Scheme a global genomics ISO accredited proficiency testing (PT) provider operated by Oxford University Hospitals NHS Foundation Trust, Oxford. GenQA offers end to end genomic testing PTs from sample receipt, analysis, interpretation and reporting through to Clinical Genetic Counselling as well as training and competency educational resources.

Dr Hastings is a state registered clinical scientist and a Fellow of the Royal College of Pathologists. She has more than 35 years’ experience in constitutional (including prenatal), acquired and molecular cytogenomics, both in a research and diagnostic setting. Initially, Dr Hastings worked on research projects into cancer and immunological disorders at the Imperial Cancer Research Fund, London; the MRC Cytogenetics Unit, Edinburgh and the Cancer Research Campaign Laboratory, Christie Hospital, Manchester. She has also worked in four diagnostic Cytogenetics Laboratories within the UK. For past 20 years was the Director of an ISO accredited proficiency testing (PT) provider for cytogenomics and more latterly, genomics (CEQAS and GenQA).  She has previously served on the European Society for Human Genetics (ESHG) Board and the UK NEQAS Board. She was also the Chair of the ESHG Quality Committee and involved in the EU funded Eurogentest project.

Dr Hastings has authored many publications and book chapters on genetics, NIPT, PGD, ISCN and PT. In addition, she is an author on many best practice guidelines.


IS0 -International Organisation for Standardization

Laura Conlin, PhD, FACMG

Dr. Laura Conlin is an Associate Professor of Pathology at The Perelman School of Medicine at the University of Pennsylvania and a Director in the Genomics Diagnostic Laboratory at the at The Children’s Hospital of Philadelphia. She is board certified by the American Board of Clinical Genetics and Genomics in both Cytogenetics and Molecular Genetics.  She is a member of several professional organizations, including the American Society of Human Genetics, the American College of Medical Genetics and Genomics, and the American Cytogenomics Conference.  She has served on the ACMG/CAP Cytogenetics Resource Committee, and currently serves on the ACMG/CAP Biochemical and Molecular Genetics Committee and on the NIGMS Human Genetic Cell Repository Scientific Advisory Committee.   She is an active member of the ClinGen Recurrent CNVs Dosage Sensitivity and the Low Penetrance/Risk Allele working groups. She has been a member of the Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) since 2019.   

Dr. Conlin’s clinical roles involve genome-wide diagnostics in a pediatric setting, using genome-wide platforms including, SNP array platform and short read next generation sequencing, to identify and report pathogenic copy number and structural variants. Her research focuses on understanding the mechanisms of genomic alterations, with a particular interest in mosaicism and structural variation, and how to improve detection of clinically relevant structural variation using various technologies, including long-read genome sequencing and other third-generation sequencing methodologies, with the goal of implementation of these technologies into clinical diagnostic testing.

Jean McGowan-Jordan, PhD, FCCMG

Dr. Jean McGowan-Jordan is the Head and Laboratory Director of the CHEO Genetics Diagnostic Lab, which is an integrated regional lab with both Cytogenomic and Molecular Genetics sections. She is a Professor in the Department of Pathology and Laboratory Medicine at the University of Ottawa.  After completing fellowships in Molecular Genetics and Cytogenetics in Ottawa and Kingston Ontario, she was credentialed in both specialties through the Canadian College of Medical Geneticists (CCMG) in 2002, and has gone on to be the primary supervisor for numerous CCMG Cytogenetics Fellows. Recently, her lab introduced a stand-alone clinical test for Facioscapulohumeral Muscular Dystrophy using Optical Genome Mapping. 

Regionally, Dr. McGowan-Jordan has worked on the Genetics Scientific Committee of the Ontario Quality Management Program – Laboratory Services, and as Chair of the CHEO/University of Ottawa CCMG Fellowship Committee.  At a national level, she has served on the CCMG Board of Directors, the CCMG Genetics and Genome Diagnostics Working Group, and Cytogenetics Committee. Internationally, Dr. McGowan-Jordan was Chair of the Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) from 2013 to 2020, serving as lead editor of ISCN 2016 and ISCN 2020. She is currently an Advisor to this group.

Cynthia Casson Morton, PhD

Dr. Cynthia Casson Morton is the William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology at Harvard Medical School, Kenneth J. Ryan, M.D. Distinguished Chair in Obstetrics and Gynecology, Director of Cytogenetics and Past Director of the Biomedical Research Institute at Brigham and Women’s Hospital. Dr. Morton is an Institute Member of the Broad Institute. She holds a part-time faculty position as Chair in Auditory Genetics at the University of Manchester, UK.

Dr. Morton is certified by the ABMGG in Ph.D. Medical Genetics, Clinical Cytogenetics and Clinical Molecular Genetics. She is a past member of the Board of Directors of the ABMGG where she served as Secretary, Treasurer and Chair of the Accreditation Committee. She was Chair of the Molecular Genetic Pathology Policy and Exam Committees of the ABMGG and the American Board of Pathology. Dr. Morton was a member of the Board of Directors of the ASHG for 12 years and served as the 2014 President. She completed a six-year tenure as Editor of The American Journal of Human Genetics and is currently Co-Editor of Human Genetics. She served as an Advisor to the Committee for the International System in Human Cytogenomics Nomenclature (ISCN) in 1994 and in 2018 was elected as a Member of the Standing Committee. Dr. Morton is a recipient of the Distinguished Cytogeneticist Award from the American Cytogenetics Conference (ACC) and is a Fellow of the AAAS.


Live Workshop Event
09/18/2023 at 12:00 PM (EDT)  |  Recorded On: 09/18/2023
09/18/2023 at 12:00 PM (EDT)  |  Recorded On: 09/18/2023