BSGM Lunch and Learn - September: Managing incidental findings: guidance for rare and inherited disease diagnostic genomic testing

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

Speakers
Professor Sian Ellard, Clinical Scientist at the Royal Devon University Healthcare NHS Foundation Trust
Dr Helen Hanson, Consultant in Cancer Genetics at the Royal Devon University Healthcare NHS Foundation Trust

Professor Sian Ellard is a Professor Emerita at the University of Exeter, formerly Professor of Genomic Medicine at the University of Exeter Medical School, Scientific Director for the South West NHS Genomic Laboratory Hub and Consultant Clinical Scientist Head of the Genomics Laboratory at the Royal Devon and Exeter NHS Foundation Trust. She came to Exeter in 1995 to set up a Molecular Genetics Laboratory providing a core facility for integrated research and diagnostic genetic testing. The laboratory receives samples from >100 countries throughout the world and is acclaimed for both its research into monogenic disorders and the translation of its research discoveries into diagnostic service. The Exeter Genomics Laboratory is the national provider for the award-winning Rapid Genome Sequencing service for acutely ill babies and children; the first commissioned test for the new NHS Genomic Medicine Service in England. Sian was awarded an OBE in 2018 for services to patient care. She has continued to pursue her research and clinical service implementation work on a part-time basis since May 2021.

Dr Helen Hanson is a Consultant in Cancer Genetics at the Peninsula Regional Genetics Service at the Royal Devon University Healthcare NHS Foundation Trust, Exeter, and holds an NIHR Senior Investigator Fellowship at the Exeter NIHR Biomedical Research Centre.
Dr Hanson qualified in medicine in 2002 from Guy's, Kings and St Thomas' Medical School, London and became a member of the Royal College of Physicians in 2005 and a Fellow in 2017. She completed her Clinical Genetics Training at St. George's Hospital and Guy's Hospital and has previously been a Consultant at the Royal Marsden and St. George's Hospital in London, before taking up her current post in September 2023. Dr Hanson has a strong interest in the management of individuals with an inherited predisposition to cancer. She has collaborated nationally and internationally in the development of clinical guidelines and is leading development of a National Inherited Cancer Predisposition Register.

Sian and Helen will be discussing managing incidental findings: guidance for rare and inherited disease diagnostic genomic testing. This guidance for rare and inherited disease diagnostic genomic testing has been developed to support clinicians requesting genomic tests and scientists working in genomic laboratories within the NHS. It provides a framework for the reporting of incidental findings with case examples and a cancer susceptibility gene list. Decision-making in accordance with guidelines will achieve greater consistency than case-by-case decisions

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.