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BDB have been supporting our member, Genomics England to ensure the voice of patients and the support they need through this journey is a priority.
We have been delighted to be involved in the Whole Genomes Sequencing in Newborns pilot and the NHS EXPRESS in the Journey to Diagnosis study.
Newborn Sequencing: The Value and the Vision
Watch this short film from Genomics England, explaining the journey so far for the Newborn Genomes programme. Exploring using Whole Genome Sequencing to increase the diagnose of rare conditions in newborn children.
This aims to ensure timely diagnosis, access to treatment pathways, and enable better outcomes and quality of life for babies and their families.
You can read more about Genomics England’s Vision HERE
Newborn screening is a sensitive topic, in 2021 together with the UK National Screening Committee, Genomics England commissioned an in-depth national dialogue involving a diverse group of 130 members of the public, including individuals with genetic conditions, new/expectant parents, people from diverse and marginalised backgrounds and young adults.
You can read the full report HERE
…or view the live stream recording of the event.
A key decision is to determine which rare genetic conditions, out of many potential options, should be looked for as part of our research study and it is vital that this decision in a robust, transparent, and fair way.
Although there are existing criteria for deciding what to include in national screening programmes, the Newborn Genomes Programme is a research study. It’s therefore important to develop and test bespoke principles to establish which conditions (and the genes and variants which cause them) can be explored further and feed back to parents.
Genomics England will be using these principles and working with experts from the NHS, to identify the initial genes and conditions that will be included when the Newborn Genomes Programme’s research study begins.
It will also be important to ensure families are well supported through this journey.
Genomics England will revisit both the principles and the list of conditions regularly to make sure they are keeping up with advancements in genomics and treatment for rare conditions, as well as continuing to engage with the public, specialists and families with rare conditions.
Ensuring families are at the heart of their work…
