UCL team to evaluate impact of genomic screening in newborns

The evaluation team will use a ‘mixed-methods’ approach to examine both the process of implementing and running the Generation Study as well as the experience and impacts on parents, clinicians and the health service more broadly. 

The team is led by behavioural scientists Dr Celine Lewis from UCL Great Ormond Street Institute of Child Health (GOS ICH) and Dr Melissa Hill from Great Ormond Street Hospital for Children NHS foundation Trust and UCL GOS ICH.

The independent evaluation has been commissioned by Genomics England, as part of an agreement facilitated by UCL Consultants (UCLC). It also involves academic collaborators from the Rapid Research, Evaluation and Appraisal Lab (RREAL) team at UCL, Queen Mary University of London and Warwick Medical School as well as third-sector partners Genetic Alliance UK and Breaking Down Barriers.

Drs Lewis and Hill comment: “Parent and family consultation is at the centre of our evaluation. Understanding the acceptability of genomic newborn screening is very important.  We are doing surveys and interviews with the parents who take part in the Generation Study and we are also trying to understand the reasons parents decline to take part.

“Our collaborators Genetic Alliance UK are conducting a survey with patient support organisations to find out their views and experiences. A key part of our evaluation is the guidance and oversight from a Patient and Public Involvement and Engagement Advisory Group made up of parent and community ambassadors and representatives of patient organisations.”

Halting the progression of rare conditions and extending lives

The Generation Study, led by Genomics England in partnership with NHS England, involves the families of newborn babies being offered whole genome sequencing using blood samples which are usually taken from their umbilical cord shortly after birth. 

The screening will identify around 200 selected conditions in babies and could see hundreds benefitting from earlier diagnosis and treatment that could help slow the progression of rare conditions and even extend their lives. Currently, over 1000 participants have consented to join the study and the aim is to screen up to 100,000 newborns in England.

The Generation Study was developed following extensive consultation with the public, parents and families affected by rare conditions as well as healthcare professionals, policy makers and scientists.

Clinical, psychosocial and health economic impacts

Now that the main Generation Study is underway, with hundreds of newborns already being tested, it is vital that the process of consultation and evaluation continues, which now falls to the UCL-led independent ‘Generation Study - Process and Impact Evaluation.’

The evaluation will examine whether offering genomic newborn screening in routine care is feasible and acceptable, and will consider the clinical benefit and cost effectiveness. Through surveys and interviews, the team will explore the attitudes and experiences of parents, professionals and patient organisations and also consider the clinical, psychosocial and health economic impacts, both positive and negative.

Drs Lewis and Hill comment:

Streamlining processes and continued oversight

A team at UCLC supported the successful tender process, finalised the agreement between Genomics England and the UCL evaluation team, and support governance on the ongoing project.

Drs Lewis and Hill comment: “UCLC were great, because they enabled that tendering process to happen quickly and in a completely streamlined fashion, taking it out of our hands so we could focus on designing the project itself.”

Diana Baciuc, UCLC Consultancy Manager for this project: “Celine, Mel and the team are bringing cutting-edge expertise and experience in evaluations to bear on this project.  The evaluation is going to be instrumental in shaping the care of newborns going forward, and providing support to the team, so they can focus on delivering effectively and efficiently is a real pleasure.”

Key facts

Lead consultants:  Dr Celine Lewis, Dr Melissa Hill (GOSH)
Department:  UCL Great Ormond Street Institute of Child Health (GOS ICH)
Project contributors: Rapid Research, Evaluation and Appraisal Lab (RREAL), Queen Mary University of London, Warwick Medical School, Genetic Alliance UK and Breaking Down Barriers.

Further reading

Generation Study 
Genomics England press release
Generation Study Process and Impact Evaluation

 UCLC Newsfeed