BSGM Lunch and Learn - May 2024: New ACGS Variant Interpretation Guidelines

About

The British Society for Genetic Medicine provides a forum for professionals involved in genetics and genomics as a clinical service and research.

As an umbrella organisation, our membership includes a wide spectrum of clinical, laboratory and research disciplines, not only in specialist genetic services but throughout the health professions.

The Joint Committee on Genomics in Medicine

The Joint Committee on Genomics in Medicine is a tripartite committee of the BSGM, RCPath and RCP, with representation from other professional bodies and patient organisations. It provides a unified forum to co-ordinate activities across a wide spectrum of organisations, particularly to promote and maintain the highest standards of practice in clinical and laboratory applications of genetics in medicine and to co-ordinate advice on service issues and workforce planning.

For its remit, membership, and minutes, please visit

A BSGM 'Lunch and Learn' online session, bringing together members from across the Society to learn and discuss topics of interest to all.

The next Lunch and Learn will discuss the new Association of Clinical Genomic Science (ACGS) guidelines and discuss impact in practice.

Speakers
Emma-Jane Cassidy is a Principal Clinical Scientist and head of the rare disease microarray section at the Wessex Genomics Laboratory Service in Salisbury, which is part of the Central & South GLH. She has a BSc (Hons) in Molecular Genetics and Cell Biology from the University College Dublin. Emma-Jane has been a HCPC registered Clinical Scientist since 2008 and has spent most of her career specialising in interpreting copy number and structural variants. She is a co-author of the ACGS 2024 Best Practice Guidelines for Variant Classification in Rare Disease.

Miranda Durkie is Deputy Head of Rare Disease Genomics at North East and Yorkshire Genomic Laboratory Hub, leading 5 specialist services plus core at Sheffield Diagnostics Genetics Service. She has a BSc (Hons) in Molecular Biology and an MPhil in Molecular Genetics from the University of Sheffield. Miranda has been an HCPC registered Clinical Scientist since 2006 and attained her FRCPath part 2 in 2019. She is co-lead of the Cancer Variant Interpretation Group UK (CanVIG) steering and advisory group (CSTAG) and ACGS representative on the Cancer Genetics Group (UKCGG) council. She is a co-author of the ACGS 2024 variant classification guidelines.

All sessions will be recorded and available via the BSGM website for members unable to attend live.

If you are unable to attend and have any questions you would like to submit in advance please send them to Demetra Georgiou

We aim for this initiative to be genuinely useful to members and serve as a point of collegial conversation across professions and geographies; topics will be selected that are of broad interest and feedback is welcome as we develop the initiative.

Past events

For recordings of our previous talks in this series please see the BSGM website: Lunch and learn (member login required).

Cost and booking

This event is free to attend and open to all BSGM members (ACGS/AGNC/CGS/CGG/FGG) as well as non-members. Advanced registration to watch live is essential through the event page and the Zoom meeting link will be circulated ahead of the event.

Instructions to register

Please log into mySociety (if you are not a member of the BSGM or its constituent groups, please create a free mySociety account with your name and email address). Then, click "events and conferences" where you will be able to book your place for this free event.

Contact

This event is being organised by the Royal Society of Biology for the BSGM. For any booking or website queries, please contact Beth Glynn-Ramsden at events@rsb.org.uk or on 020 3930 9927.

For any event queries, please contact Demetra Georgiou