Unique families…. Genomics England would like your help in developing its Newborn Genomes Programme, and in particular, invite you to some workshops to inform the drafting of principles that will guide the programme. Please read on!

In 2023, Genomics England (GEL) will begin a research study to evaluate the utility and feasibility of screening newborns for a larger number of childhood-onset rare genetic conditions in the NHS using whole genome sequencing. The study will gather data and evidence to inform future screening policies and wider clinical and research activity.

The pilot programme will aim to recruit 100,000 babies to gather this evidence, and GEL are working closely with parents, participants, the public as well as experts and representatives from rare disease communities to design the programme.

One of the challenges they are tackling is that although there are hundreds of conditions that could be detected through whole genome sequencing, for many reasons they may not want to look for all of them. So the pilot programme will only screen for a specific set of conditions, genes, and variants.

GEL want to make sure that they involve people with direct, lived experience of rare conditions, either as a patient themselves or a family member, and so they’d like your help in deciding what principles should be used to choose conditions that will make up the initial list that babies enrolling in the pilot will be screened for.

Online Workshops

GEL are working with an organisation called Involve to recruit representatives from the rare disease community to engage in a series of online workshops that will allow a diverse range of people and groups to inform the drafting of principles that will guide the programme. In the workshops Involve will share the draft principles and work on them together, taking recommendations from participants back to Genomics England where they will take these into account in the further revisions of the principles.

They are holding two sets of workshops:

Workshop 1: Thursday 19 May (5.30-7.30pm) and Saturday 21 May (10am – 3.30pm)

Workshop 2: Wednesday 8 June (5.30-7.30pm) and Saturday 11 June (10am – 3.30pm)

All participants will be offered a financial incentive to say thank you for taking part.

If you are available for either of those sets of dates, please email Kate Harvey, Engagement Manager at Genomics England (Kate.Harvey@genomicsengland.co.uk), who will be in touch with more details. If you are interested in taking part but are unable to commit to the times above, please get in touch too!

Online Survey

We have created a page on the Genomics England website which gives further information on the principles, along with an online survey to gather your views. Please visit the page to find out more.

If you have any other questions or comments about the Newborn Genomes Programme, please don’t

hesitate to get in touch by emailing us at ge-newborns@genomicsengland.co.uk