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15th December 2022
BSGM annual meeting: from cutting edge to clinical services
Jen Willows, Editor at PET (the Progress Educational Trust)
The BSGM UK Clinical Genomics 2022 meeting was held on 8 November at the Royal College of Physicians in London.
BSGM chair Gemma Chandratillake welcomed attendees who, despite threats of train strikes and rain, were excited to be back at an in-person conference and eager to hear the latest developments in genomic medicine.
Newborn screening
Matt Brown from Genomics England presented results from the rare disease strand of the 100,000 genomes project showing how WGS provided substantial improvement over whole exome sequencing, panels, or arrays in making diagnoses. He also outlined priorities for future work, including the newborn screening programme and improving diversity in datasets so everyone can benefit.
A panel discussion on newborn screening began with David Elliman from Great Ormond Street Hospital who gave an overview of the history of newborn screening, and outlined the conditions currently screened for using the heel prick/ tandem mass spectrometry approach. He emphasised that all screening programmes – genomic or otherwise – are about balancing risk and benefit, and that when screening apparently healthy people false positives or ambiguous results can result in unnecessary harm.
Richard Scott and Amanda Pichini from Genomics England outlines plans for the upcoming Newborn Genomes pilot scheme, with Richard focusing on the plan's aims, and Amanda dealing with some of the challenges around workforce training and perhaps the thorniest issue for the project: issues around consent.
Angus Clarke gave a perspective on how implementing whole genome sequencing for newborns nationally might impact the current NHS workload and demand for resources. His point about the cost of WGS and the number of children living in poverty in the UK was hard-hitting and gave many audience members pause.
It has been widely discussed in recent years that many other countries test for more conditions at the newborn stage than England currently does, and Anneke Lucassen from the University of Oxford, speaking last, returned to this subject. Anneke is a member of the UK National Screening Committee, who make the recommendations for what tests should be offered to newborns. Echoing David Elliman's point, she emphasised that without symptoms to give context to genomic findings, the resulting uncertainty may mean some infants undergo extensive and ultimately fruitless investigations they would not otherwise have had.
The audience questions following this discussion were particularly lively. Several questioned whether the newborn genomes programme was being implemented prematurely; another queried why not develop a prenatal screening programme – rather than neonatal – to give families greater choice.
Clinical Genomics
The second session began with Sarah Wynn from Unique, a charity supporting families with rare chromosomal and genetic disorders. Unique is known for their information guides to specific conditions, but they are seeking to make their information even more accessible with new 'jargon-busting' animations to help affected families understand technical terms, the first of which explains arrayCGHs.
Anne Goriely from the University of Oxford gave the audience into the PREGCARE (precision genetic counselling and reproduction) study, which evaluates the risk of subsequent children being affected in families who have an existing child with a de novo mutation.
Lastly, Anju Kulkarni from Guy's and St Thomas' presented the UK CGG and FGG consensus guidance on prenatal diagnosis and preimplantation genetic testing for germline cancer susceptibility gene variants.
Abstract sessions
During the lunch break delegates had the opportunity to mingle and meet representatives from the event's sponsors. There was also an NIHR careers talk and networking session for early careers researchers, where Ana Lisa Tavares from Genomics England talked about different careers in clinical genomics, and her own work translating research findings for patient benefit.
Two parallel sessions of talks followed. The service session, chaired by Wendy Jones and Ellen Thomas, began with a presentation from Alison Hall of the PHG Foundation who introduced the BSGM's newly published guidance on genetic testing in childhood. Her presentation was followed by Ruth Horne from the Ethox Centre at the University of Oxford who introduced the other newly published guidance document: Ethical Issues in Prenatal Genetic Diagnosis.
Next were 15 short presentations from submitted abstracts. Some covered issues around delivery of genomic services from staffing issues in the genomic workforce and equality of access to NHS genomic services in pregnancy. The parallel discovery session, chaired by Emma Woodward and Joo Wook Hoo, comprised 16 research-focused presentations.
Congratulations to Melody Redman from the Yorkshire Regional Genetics Service and Jacob Day from the University of Exeter for winning the best abstract presentation prizes in their respective sessions.
Genomics in Human Disease
The afternoon plenary sessions chaired by Siddarth Banka and Miranda Durkie, the presentations were themed around applications of genomics in human disease.
Serena Nik-Zainal from the University of Cambridge talked about the potential of using whole genome sequencing for selecting cancer treatments, and the challenges of implementing such an approach within the NHS.
Mina Ryten from the UCL Institute of Neurology's presentation was about long-read RNA sequencing, and how using this to view the transcriptome can shed light on the activity of pseudogenes. Many genes associated with mendelian conditions have one or more pseudogenes, whose expression is poorly understood.
Finally, Matt Loose from the University of Nottingham gave a presentation on long-read sequencing for human disease. His work highlights how nanopore technologies can not only give long-read genome sequencing data in real time, but also methylation data. The combination of genomic and epigenomic information in a single snapshot has potential to revolutionise cancer panels.
Keynote: Professor Helen Firth
The keynote lecture from Helen Firth of the Wellcome Sanger Institute gave an overview of her work establishing the DECIPHER platform for sharing rare disease genetic data, and subsequently the Deciphering Developmental Disorders (DDD) study.
The focus of her presentation was importance of looking at both the genomic data and patient phenotype in rare diseases; a point she elegantly illustrated with the help of Elmer the Elephant (you didn't know he's a geneticist?) and case studies. This is the value of systems like DECIPHER that make it possible to connect clinicians of patients with extremely rare mutations, to compare symptoms and make diagnoses for families.
In making this point, Professor Firth hit on the thread that connected all the presentations: that the interests of patients and their families are at the centre of every aspect of genetic medicine.
From cutting edge research, to rolling out ambitious pilot schemes like the newborn genomes programme; from delivering excellent clinical services with less-than-ideal staffing levels to delivering information to affected families in new and accessible ways, affected families were always the focus and the motivation. Even when there was (polite!) disagreement in the room, it was always about how to deliver the most benefit to these groups, and with their best interests in mind.