The purpose of the webinar was to understand the developments in the current national landscape for whole genome sequencing (WGS) in newborns in England. The presentation from Genomics England (which you can download below) highlighted what the plans for WGS could mean for paediatricians and paediatric teams in the future.
The webinar heard from senior paediatricians who consider the range of dimensions to WGS of newborns, including tackling rare diseases, ethical implications for babies throughout their lives, workforce practicalities and wider issues and concerns.
Genomics England: current work programme
Dr Richard Scott - Chief Medical Officer, Genomics England
Simon Wilde - Engagement Director, Genomics England
Genomics England’s Chief Medical Officer and Senior Engagement Lead spoke about the ambitions for the Newborn Genomes Programme to co-design and run an ethics-approved research pilot to sequence the genomes of 100,000 babies, embedded in the NHS, to explore the benefits, challenges, and practicalities of offering WGS to all newborns to accelerate diagnosis and access to treatments for rare genetic conditions.
The research pilot will not begin for another 18 months and Genomics England, working with partners, professionals, parents and the public, are currently exploring in detail the many practical, ethical and societal questions that need to be addressed.
Focus area 1: Considerations of which conditions to test for
Dr David Elliman - Consultant Community Paediatrician, Great Ormond Street Hospital for Children NHS FT
Dr David Elliman considered the merits of screening for individual conditions as well as the general acceptability of the methodology, framing this around the question: for what should we screen? For example, with assessing rare conditions, a test that has adequate ‘accuracy’ in out-patients will not perform as well in a whole population setting. The more conditions that are included, more false positives and more missed cases will occur. This will then have implications for the duration of follow-up to assess outcome may be beyond the primary study period – this is important not only for ‘cases’, but also for false positives, where parents may have lasting concerns.
Focus area 2: Ethics and consent
Dr Ngozi Edi-Osagie - Consultant neonatologist Manchester University NHS FT
Dr Ngozi Edi-Osagie focused on impact, governance and potential for discrimination with WGS. In terms of consent, the impact of the results of WGS may not just be for the newborn but also the parents and wider family, and the question of if it is ethical to have information which will not be shared, for with example of a test result that may be held back. The potential for discrimination comes into play with implications on life insurance and mortgages, and breaches of information must also be taken into account when considering the ethics and consent of WGS.
Focus area 3: NHS Workforce
Dr Camilla Kingdon - RCPCH President, Consultant neonatologist, Evelina London Children’s Hospital
The ‘who’ and the how’ of NHS workforce was considered by Dr Camilla Kingdon. WGS will impact the entire child health workforce as its implications are across the life course of the newborn being tested. This includes midwives and obstetricians, paediatricians and later physicians, health visitors, GPs, and speciality MDTs. There will be broad professional support needed not just in education and training, but resources in terms of time and people too, as well as robust IT infrastructure will be needed to facilitate clear communication.
Attendees asked questions during the webinar, covering topics such as consent and counselling. Several were answered by the panel, and those not answered have been shared with the Genomics England team to consider in the development of their programme.
If you have questions about the event, you can send an email to email@example.com.