Webinar summary
The use of genomic approaches, including whole genome sequencing (WGS), is rapidly evolving. The ever-reducing cost of WGS, as well as the increase in accessibility and availability of testing has reinforced the widespread increase in genomics use in clinical practice.
Numerous government-led ambitions are in place to continue expanding the use of genomics following the success of the 100,000 Genomics Project, including the provision of the Genomic Medicine Services and national programmes such as the Generation Study (previously known as the Newborn Screening Programme); a research programme aiming to screen 100,000 newborns by WGS.
The presentation from Genomics England highlighted developments and progress in the Generation Study, as they aim to begin roll-out in early 2024. An expert panel provided their reflections on the study, followed by an audience Q&A session.
Speakers
Dr Ngozi Edi-Osagie (Chair)
Ngozi is a consultant neonatologist at Saint Mary's Hospital, in Manchester. She is the RCPCH Officer for Genomics, and Chairs the RCPCH Genomics Working Group.
Genomics England - Dr Katrina Stone
Katrina is an ST4 in Clinical Genetics (St George's, London) and Clinical Fellow in Genomics at Genomics England
Karen Harrison (Alex TLC)
Karen’s twin sons were diagnosed with ALD in 2004 and she joined the ALD Life team in 2013. As an ALD mum, Karen brings significant personal experience to supporting beneficiaries, and works with specialists to ensure best practice in treatments & awareness within the NHS. She regularly presents Alex TLC’s work and key messages to professionals and peers.
Donna Kirwan
Donna is the national midwifery lead for genomics at NHS England's Genomics Unit and has over 30 years’ nursing and midwifery experience.
Prof Mark Kilby
Mark is a professor of Fetal Medicine at the University of Birmingham, and a Consultant in Fetal Medicine at Birmingham Women’s and Children’s NHS Foundation Trust. He was the Chair of the RCOG Genomics Taskforce, and is also a senior clinical scientist for medical genomic research at Illumina.
Get involved and contact
Our ambition is to support our members, and children and young people and their families, to prepare for the requirement that paediatricians embed genomics into clinical practice.
For more information, see our genomics webpage or contact the Research and Evidence Team at genomics@rcpch.ac.uk.