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HUGO NEWSLETTER
Annual Report from HUGO Education Committee
The HUGO Education Committee, with its six sub-committees, comprising numerous highly active members from many countries around the worldwide, has been particularly busy in 2024. Co-chaired by Profs Dhavendra Kumar (DK, London, UK), Angela Solano (AS, Buenos Aires, Argentina) and now also Edward Tobias (ET, Glasgow, UK), the committee has been represented at many events around the world. These have included talks (by Dhavendra Kumar, Edward Tobias, Charles Wray, Angela Solano, Alison McEwen, Carolyn Applegate, Julie Makani and Andreas Laner) at the committee's educational pre-conference workshop at the Human Genome Meeting 2024 in Rome, Italy; an invited talk by ET at the BGC-I Conference, Bengaluru, India; and an invited presentation by AS, ET & DK at the ALAG Conference in Guadalajara, Mexico in October. Additionally, the VEPTC 2024 course was (again) successfully led by Andreas Laner, in Palermo, Italy, in October 2024.
Through its active and geographically widespread international members, the HUGO Education Committee maintains strong direct links to several other international genomics education committees. For example, ET is a member of the ESHG EduComm and DK and ET are members of the Global Genomics Network in Education and Training (GGNET) Partnership Board. Both DK and ET were invited to speak at GGNET's most recent international summit meeting at the Sanger Institute, Cambridge, UK.
Perhaps as a consequence of the committee's many activities, the HUGO Education web pages, created and maintained by ET, continue to receive an increasing frequency of visits and return-visits. In fact, the pages have now been visited from over 100 countries, worldwide.
Amongst many activities of the HUGO Education Committee, there is emerging evidence of its impact in Low and Middle Income Countries as recommended by the WHO Science Council on Genomics. In this context, DK leads the South Asia Genomic Healthcare Alliance, initiated by the Genomic Medicine Foundation UK, and in collaboration with several academic institutions and healthcare providers across South Asia. Genomic education remains central to its many objectives. Several human genetic and genomic units have set up dedicated courses for genetic counselling, birth defects, rare diseases, cancer genetics and laboratory genomics.
It is anticipated that 2025 will be an equally busy year for the committee. A pre-conference educational workshop (to be chaired by ET) is being prepared for 12th March at HGM2025 in Durban, with several speakers representing the committee. In addition, in 2025, preparation and submission of several manuscripts, resulting from the committee's work, is planned. These will include papers discussing: the results of the recently conducted global survey of educational needs of healthcare professionals; DNA variant interpretation in molecular diagnostics; genetic counselling training (GC) in LMICs; GC in Southern Africa; GC for DSDs in LMICs; and a comprehensive new international-consensus GC curriculum.
Annual Report from HUGO Education Genetic Counselling Subcommittee
The HUGO Education Genetic Counselling Subcommittee has been actively engaged in various activities throughout 2024. A significant accomplishment is the completion of a Delphi study designed to identify the essential educational components that should be included in a genetic counsellor training program in areas where the profession is either non-existent or in the early stages of development. The study involved two rounds of surveys and analyses, and a manuscript detailing the findings is currently under submission to the Journal of Genetic Counselling. We aspire for the core curriculum to serve as a valuable reference and guideline for countries seeking to establish genetic counselling training programs.
The subcommittee also played a role in other manuscript development, submitting three papers to indexed journals, all of which are currently under review.
Additionally, members played an active role in planning a Genetic Counselling workshop, scheduled for March 11, 2025, during the HUGO Human Genome Meeting (HGM) 2025 in Durban, South Africa.
Collaborative efforts included discussions with the Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Thailand regarding their plans to establish GC training, and with Tel Aviv University, Israel on developing an online GC program in Arabic for Palestinian students.
Annual Report from HGVS Variant Nomenclature Committee
HGVS Nomenclature Update Detailed in New Genome Medicine Publication
A significant update to the Human Genome Variation Society (HGVS) Nomenclature has been described in a manuscript by Hart et al., recently accepted by Genome Medicine (preprint available at https://osf.io/preprints/osf/92gfd). The update addresses key aspects of this widely-used standard for describing genetic variants in DNA, RNA, and protein sequences. The HGVS Nomenclature has been reorganized under HUGO governance and enhanced with new community engagement platforms and technical improvements. Notable changes include the adoption of Extended Backus-Naur Form (EBNF) as a formal computational grammar, improving machine readability while maintaining human interpretability. The update features a redesigned website, new community feedback mechanisms, and updated guidance for transcript selection, including recommendations for MANE Select transcripts. Version 21.1 also introduces refined syntax for gene fusion descriptions, aligning with cross-consortia recommendations. The changes implement software development practices and version control mechanisms to support future maintenance and evolution. These improvements aim to better serve the genomics community while maintaining the stability required for clinical and research applications. As genetic testing becomes increasingly important in healthcare and research, these updates to the HGVS Nomenclature should help ensure consistent and accurate variant communication across the global genomics ecosystem.
Also, the HUGO ISCN committee completed the work on the updated ISCN guidelines, published in the ISCN2024 book (see https://karger.com/books/book/6011/ISCN-2024An-International-System-for-Human) The International System for Human Cytogenomic Nomenclature (ISCN) provides a standard approach to describe any genomic rearrangement identified by techniques ranging from karyotyping to FISH, microarray, genomic mapping, various region-specific assays, and DNA sequencing. ISCN 2024 is an indispensable reference volume for human cytogeneticists, molecular geneticists, clinical geneticists, technicians, and students for the interpretation and communication of human cytogenomic nomenclature.
The HUGO Variants in Journals committee advanced efforts to improve diagnostic rates by standardizing variant naming in the literature through the implementation of VariantValidator, as detailed in their publication in Nature Genetics (2024). Freeman PJ, Wagstaff JF, Fokkema IFAC, Cutting GR, Rehm HL, Davies AC, den Dunnen JT, Gretton LJ, Dalgleish R (2024). Standardizing variant naming in literature with VariantValidator to increase diagnostic rates. Nat Genet 56(11):2284-2286
Annual Report from HUGO Committee on Ethics, Law and Society
1. Ecogenomics Project
In 2023, CELS suggested that an interdisciplinary One Health approach should be adopted in genomic sciences.[1] One Health is defined as “an integrated, unifying approach that aims to sustainably balance and optimize the health of people, animals and ecosystems.” As such, it can provide a common language and knowledge framework that underpins environmental-genomic research.
To further explore this concept, we held a Socratic Workshop at the Brocher Foundation in Geneva, Switzerland in May 2024.[2]The meeting developed a concept of ecogenomics as part of a response to an evolving ‘nature crisis’, which has now been recognized by over two-hundred health journals as a systemic ‘global health emergency.’[3]The CELS group coordinated the workshop with geneticists, along with bioethicists, legal scholars, genetic councillors, and ecologists. Capps as the PI received a workshop residency grant for 15 participants, and a travel grant to cover participants attendance. The project also received travel support from HUGO, The Jackson Laboratory, and Johns Hopkins University.[4] The outcome was a view that HUGO’s role should ‘evolve’ to include environmental research. The Human Genome Project has already become more than the sequencing of the human genome and its clinical context, so we explored the opportunities for ELSI to develop in respect to ecosystems, environments, and communities.Our goal was to advocate for widening the study of reciprocal interactions between genomic theory and empirical observations from the field, laboratory, and clinic.
Submitted a manuscript in November to The Lancet Planetary Health.
Applied for publication funding from Brocher Foundation, and [with Zohar Lederman] University of Hong Kong.
Our proposal for the 2026 Genome Meeting is to include an environmental session that is inclusive of ecology and conservation genome/geneticists.
2. Revise Statement on Benefit Sharing
HUGO is a global body that has, over the years, provided guidance statements.These statements balance global framing with national interests.We now need to think about how local reference databases will combine with global genomic diversity. In 2024, the WHO’s Guidance for human genome data collection, access, use and sharing was published that aims to “Promote the use of common principles in laws, policies, frameworks and guidelines, within and across countries and contexts.”[5]Background to this session includes the HUGO Statement on the Principled Conduct of Genetics Research (1996) that first recognised “the human genome is part of the common heritage of humanity,” and the HUGO Ethics Committee statement on benefit sharing (2000).
We are coordinating a workshop at the Durban Genome Meeting (2025) onRe-examining the Ethics and Law of Data Sovereignty: Common Human Heritage and Population-Specific Genomic Variation. This half day session will have three panels, each with a short, high-level introduction, followed by open workshop discussion.
This workshop will be the first phase in identifying issues with our historical statements and developing new statements that reflect the ELSI issues of our times.
3. Summary of Activities for 2025
1) Revisit membership conditions and enhance scope a.Continue to hold unique positioning as ‘bioethical’ group, which contributes to the many regulatory type bodies, e.g., GA4GH and WHO’s new ‘Technical Advisory Group on Genomics (TAG-G)’[6]
2) Workshop at Durban Genome Meeting
3) Develop plan of work for new statement on benefit sharing
4) Ecogenomics session at the next Genome Meeting
Appendix
The Brocher Foundation Guide for Participants, [including Capps B, et al. The Human Genome Organisation (HUGO) and a vision for ecogenomics: The Ecological Genome Project. Human Genomics].
[1] Capps B, Chadwick R, Lederman Z. et al. The Human Genome Organisation (HUGO) and a vision for ecogenomics: The Ecological Genome Project. Human Genomics 2023; 17, 115.
Annual Report from HUGO Gene/Disease Specific Database Advisory Council
HUGO G/DSDAC has worked collaboratively on the LSDB Guidelines, developing a tree structure of all subjects to include, which will make it easier to decide where to start and which topics will require separate guidelines.
The overall structure of the guidelines was updated by incorporating points from the Vihinen 2012 paper, with some information added to the Minimum Data Contents section. The Minimum Data Content section was closely reviewed and updated, including standards for storing phenotype data and the use of Phenopackets, HPO, ClinGen allele registry IDs, and VRS. In the Data Collection and Database Curation section, the existing document was discussed and revised, with new aspects added and text from Celli et al. 2012 being incorporated after obtaining permission. In the Ethics section, new literature was reviewed and will be integrated into the existing content, including reinterpretations of VUS and patients submitting their own data.
Annual Report from HUGO Executive Board & HUGO Forum
HUGO Executive Board welcomed six new members, Zilfalil Bin Alwi from Universiti Sains Malaysia, Elspeth Bruford from University of Cambridge, Collet Dandara from University of Cape Town, Iscia Lopes-Cendes from University of Campinas, Julie Makani from Muhimbili University of Health and Allied Sciences, and Juergen Reichardt from James Cook University, who began their term on April 1, 2024, joining the existing eight members. In March, the Board revised its resolution to clearly define the roles and responsibilities of each members and committees, and reviewed an overall report on the committees' activities.
From April 8 to 10, HGM2024 was held in Sapienza University of Rome, Rome, Italy, achieving significant success. HGM2024 had a total of 571 participants from 48 countries, 206 posters including 29 oral presentations. Preparations are actively underway for the upcoming HGM2025, which will be held in Durban, South Africa, from March 11th to 14th, with meticulous planning and coordination to ensure its success.
Michael Buckley has stepped down in December, and Sir John Burn will rotate off in March 2025. Leon Mutesa from University of Rwanda will be joining as a new Board member staring April 2025.
With HUGO Forum, the board has actively sought advice from a wide range of experts and liaisons to gather valuable insights for shaping HUGO’s future direction. Chairs and representatives of HUGO engaged in discussions with G2MC, GA4GH, and WHO liaison representatives, while sharing the activities of each organization. Together, they are working towards creating a global genomic resource that benefits all.
HUMAN GENOME MEETING (HGM) 2025
"From Africa to the World: Exploring African Diversity through Human Genomes"
Register now to secure standard rates! Limited time offer.
HGM2025 will be held in Durban, South Africa on 11 - 14 March, 2025.
The symposiums, workshops, exhibition, welcome reception will be held in the many meeting venues at Southern Sun Elangeni Maharani Hotel, an iconic hotel in Durban from 12 - 14 March. The Trainee Symposium Day for students, post-docs, and early-career researchers will be held on March 11th at University of Kwazulu-Natal.
We're excited to have you join us for a day of learning, networking, and growth. Enjoy the symposium and experience the natural landscapes and special features of Durban!
Travel grants for students/post-docs and early-career researchers from LMIC countries are available. Please register and submit abstracts to be awarded with travel grants.
Discover the Future of Genetic Counselling: Join Our Workshop in HGM2025
Don't miss this opportunity to connect, learn, and contribute to shaping the future of genetic counselling!
This workshop will take place on March 11th at University of KwaZul-Natal from 1PM to 5PM (South Africa Time) and will also be available online via Zoom. If you choose the General Registration option, you will have access to all HGM2025 programs; however, registration fees will apply. Alternatively, by completing the Genetic Counselling Workshop: Online-Only Registration (https://forms.gle/2k4t72D68e1nV7nw6), you can participate in the online Genetic Counselling Workshop for free. Please select the registration option that suits your needs.
9th HUGO Variant Effect Prediction Training Course
We are excited to invite you to the 9th HUGO Variant Effect Prediction Training Course (VEPTC 2025), taking place in Porto, Portugal, from 28th September to 1st October 2025. This in-person event is designed to empower professionals with the knowledge and tools to excel in DNA variant analysis and interpretation.
Why Attend VEPTC 2025?
Variant interpretation is one of the most complex and time-intensive aspects of genomic testing. VEPTC 2025 is designed to provide participants with the tools, skills, and confidence to navigate this challenging landscape. Whether you’re a beginner or a seasoned professional, this course offers something for everyone:
Navigate the Best Tools: Learn to efficiently use genome browsers, including Ensembl, UCSC, and IGV, to streamline your variant analysis workflows.
Master HGVS Nomenclature: Hands-on workshops will teach you how to name challenging variants and avoid common pitfalls.
Confidently Classify Variants: Gain practical knowledge of the ACMG classification system, including the latest updates and recommendations.
Explore Advanced Topics: Delve into specialised areas like RNA analysis and Human Phenotype Ontology (HPO) for variant prioritization.
What to Expect?
The course offers a balanced mix of theory and practice, featuring:
Interactive Learning: A perfect balance of lectures and practical workshops, tailored to meet the needs of both beginners and experienced professionals.
Expert-Led Sessions: Engage with speakers who bring a wealth of knowledge and real-world experience.
Networking Opportunities: Meet and connect with peers, experts, and leaders in genomics and molecular diagnostics.
Who Should Attend?
VEPTC 2025 is tailored for:
Molecular geneticists, clinical geneticists, and genetic researchers.
Professionals working in molecular diagnostics labs or clinical settings analysing DNA sequencing data.
Data analysts and medical specialists interested in genomic variant interpretation.
Participants should have basic knowledge of molecular biology, sequencing technologies, and genetics.
Course Details
Dates: 28th September - 1st October 2025
Location: Porto, Portugal
Language of Instruction: English
What to Bring: A laptop for hands-on sessions
Why Porto?
Porto, Portugal’s vibrant second city, is renowned for its stunning architecture, rich history, and world-famous port wine. The course venue, Vila Galé Hotel, is conveniently located in the city centre, offering both comfortable accommodations and proximity to Porto’s cultural treasures.
Registration Opens January 2025
Mark your calendars! Registration for VEPTC 2025 opens at the end of January 2025. Don’t miss the chance to secure your spot for this highly anticipated event.
💌Stay in the loop! Sign up for theVEPTC mailing listto receive the latest updates, important announcements, and registration details straight to your inbox—don’t miss a thing!
Genomic and Precision Medicine in Clinical Practice
Explore the diverse methods and practical cases in "Genomic and Precision Medicine in Clinical Practice" - your essential guide to the latest advancements enhancing patient care.
UTS Cancer Genetic Counselling microcredential is now open for enrollments!
The Genetic Counselling team at University of Technology Sydney have been working on a new offering of online genetic counselling skills focused training. The subject site can be found here Cancer Genetic Counselling.
We’ve designed this subject to provide applied learning in cancer genetic counselling covering an introduction to cancer and genetic testing, including an overview of genetic testing technologies, genetic counselling and working with families, risk assessment and communication in cancer genetic counselling and applying evidence to practice, including working through case studies. The subject will introduce learners to resources that are used across our region and we are developing case studies with support from colleagues internationally.
HUGO Clinical Genomics & Genomic Medicine Educational Sub-committee Survey
Dear Colleagues,
The Human Genome Organization (HUGO) Clinical Genetics and Genomics Education sub-committee is seeking input on use of genetic and genomic data and resources from practicing physicians.
The survey is intended for a wide range of physicians; however, if you are a clinical geneticist or medical geneticist, this survey is not intended for you.The survey data will be used to develop clinical and general education resources for healthcare providers across the globe. Data collected will be aggregated in a de-identified fashion. Please assist HUGO’s education effort by taking the survey at the QR Code or link below.
Importantly, please also share the survey across your professional network of physicians or appropriate professional societies.
The survey can be completed at this link, hosted by The Jackson Laboratory:
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