Making progress with newborn screening
In this event, we hope to explore some of the challenges around balancing the benefits of extending screening for babies with rare conditions, with the involvement this requires from babies who do not stand to personally benefit.
We hope that this will be a forum for constructive and pragmatic discussion, looking at where things currently stand with newborn screening, and considering how we can make the most of current research opportunities to test and improve the screening process.
This event is organised by the Centre for Personalised Medicine with support from Cambridge Prisms.
This event is currently invitation only, but will be opened up more widely in the new year. You can email cpm@well.ox.ac.uk to register your interest in the meantime.
Please note that talk titles and timings are subject to change.
| 9:30 | Registration & coffee | |
| 10:00 | Newborn screening – the case for widening it, and the hurdles that we need to anticipate | Prof Anneke Lucassen, Director, Centre for Personalised Medicine |
Focus 1: what would success look like in the context of a rare disease screening programme?
Chair: Prof Anneke Lucassen
This session will look at qualities of successful screening programmes, and consider how principles around screening should account for very rare conditions, where we cannot expect to have a wealth of data to guide decisions.
| 10:15 | How to make good public policy screening recommendations for rare diseases: benefits, harms, opportunity costs | Prof Anne Mackie, Director of Screening, Public Health England |
| 10:30 | Do the current screening criteria in the UK set very rare diseases up to fail? | Nick Meade, Director of Policy, Genetic Alliance UK |
| 10:45 | Principles for including conditions in the Generation Study | Dr Ellen Thomas, Chief Medical Officer, Genomics England |
| 11:00 | Building a health economic case for extending newborn screening | Dr James Buchanan, Senior Lecturer, Health Economics and Policy Research Unit, Queen Mary University of London |
| 11:15 | Panel discussion – how should screening recommendations take account of rare disease? | Prof Anne Mackie, Nick Meade, Dr Ellen Thomas, Dr James Buchanan, Prof Sian Taylor-Phillips, Professor of Population Health, University of Warwick |
| 12:00 | Cambridge Prisms: Precision Medicine | Prof Dame Anna Dominiczak, Editor-in-Chief, Cambridge Prisms: Precision Medicine |
| 12:10 | Lunch |
Focus 2: navigating new uncertainties
Chair: Dr Susie Weller
This session will discuss the challenges of interpreting genomic variation in a screening context, the challenges for families and clinicians of managing uncertainty, and the challenges of living with a rare condition.
| 13:30 | The scientific challenge of predicting phenotype from genotype | Prof Caroline Wright, Clinical and Biomedical Sciences, University of Exeter |
| 13:45 | The challenges of living with uncertainty from screening: experiences with CF SPID | Prof Felicity Boardman, Department of Health Sciences, University of Warwick Medical School |
| 14:00 | The challenges of living with a rare disease diagnosis | Dr Sarah Wynn, Chief Executive Officer, Unique |
| 14:15 | The challenge of providing clinical care in situations of uncertainty | Dr Robin Lachmann, Consultant in Inherited Metabolic Disease, National Hospital for Neurology and Neurosurgery, Queen Square, London |
| 14:30 | Panel discussion – how should we prepare parents and the NHS for navigating new uncertainties? | Prof Caroline Wright, Prof Felicity Boardman, Dr Sarah Wynn, Dr Robin Lachmann, Dr Judith Hayward, RCGP joint clinical representative in Genomic Medicine Dr Jonathan Roberts, Research Genetic Counsellor, The Synapse Centre for Neurodevelopment |
| 15:30 | Break |
Focus 3: the opportunities and questions raised by screening using genomes as opposed to more targeted options
Chair: Prof Caroline Wright
This session will explore the potential benefits of research with genomic data, and the complexities of asking consent for genomic data collection from healthy babies.
| 16:05 | Publics views about contributing genomic data for research | Dr Richard Milne, Head of Research and Dialogue, Engagement and Society, Wellcome Sanger Institute |
| 16:20 | Ethical considerations for projects involving ‘healthy’ babies | Prof Dominic Wilkinson, Director of Medical Ethics, Oxford Uehiro Centre for Practical Ethics |
| 16:35 | Finding responsible ways to let innovation flourish | Prof Michael Parker, Director of the Ethox Centre, University of Oxford |
| 16:50 | Panel discussion – how can newborn genome studies support parents to engage with what it means to contribute genomic data, as well as what it means to have expanded screening? | Dr Richard Milne, Prof Dominic Wilkinson, Prof Michael Parker, Dr Meekai To, principal clinician – maternal and child health, Genomics England, Genomics England, Dr Celine Lewis, Principal Research Fellow in Genomics, UCL Great Ormond Street Institute of Child Health |
| 17:30 | Closing remarks/common ground | Prof Anneke Lucassen |