Research study summary | implementation and impact of whole genome sequencing in the NHS Genomic Medicine Service
In 2020, Celine Lewis, a behavioural scientist who previously worked at Genetic Alliance UK, embarked on a project to look at the delivery of whole genome sequencing in the NHS (the Genomic Medicine Service, or GMS). The focus was on how well the GMS is working in the diagnosis of rare diseases in children in England. It examined how the new service was rolled out, how prepared healthcare professionals felt, communication practices, parents’ experiences, and psychological impacts. Here she explains some of the work she and her team conducted and the key findings.
Methods
This was a large 5-year research programme that took a variety of approaches:
- Interviews with service designers to understand the aims of the service.
- Clinic observations to examine the interaction between health professionals and parents, along with follow-up interviews with both. This focused both on pre-test counselling and the delivery of results.
- A survey with parents at the time of testing and 12 months after results were provided, along with follow-up interviews, to examine parent-reported experiences and outcomes.
- Interviews and a survey with paediatricians to identify how prepared they felt to deliver the service, and what they saw as the factors that helped implement the new genomic service, and the barriers to such a service being effective.
What are the challenges health professionals are facing, delivering whole genomic sequencing across the NHS?
There is strong support for whole genomic sequencing amongst health professionals, but the research identified several challenges: staff shortages, the need for more training and confidence among paediatricians and other clinicians, and limits in some NHS computer systems that are needed to support the service.
Considerable variation exists between NHS Trusts in how these services are delivered, including who undertakes key tasks. Healthcare professionals, particularly those expected to offer this service in a mainstream setting (i.e. non-genetic specialists), reported that they do not have high confidence in their ability to interpret complex genomic results and to communicate these findings to families. Time pressures and unclear guidance can make the situation more challenging.
Recommended solutions include increasing education and training and hiring ‘genomic associates’ to assist with consent and admin. Creating dedicated roles for consent and admin could reduce genetic specialists’ workload, improve turnaround times, and improve consistency of care as well as how accessible it is to different patients.
What do parents say about ‘consenting’ to whole genome sequencing?
To gain consent from parents for whole genome sequencing, key information about testing and data use are usually covered, but often the conversations do not fully explore parents’ values. As our understanding of genomics progresses, it is possible that whole genome sequence data from patients can be re-analysed and new information made available to parents in the future – but this is also often missing from consent conversations. This could be improved if people in dedicated support roles carried out the consent process. Parent feedback indicates that most parents feel well-informed and supported in their decision about whole genome sequencing. However, about one in five parents experience moderate to severe anxiety at the time of testing, especially younger parents or those who find it harder to cope with uncertainty.
What are parents’ experiences of receiving results from whole genome sequencing?
About a third of families in our survey study got a confirmed genetic diagnosis, but most did not. Overall, parents felt more confident and informed after getting the results, especially if they got a diagnosis. Regret about having the test was very low, though younger parents and parents who were given their results in writing had slightly more regret, although this may be related to them being more likely to receive a no-finding result. Anxiety levels stayed about the same before and after getting results. Parents were generally very satisfied with how results were shared, but written-only results could be harder to understand. Letters to parents differ in how much detail they include and how easy they are to read, sometimes containing technical language that can be difficult to understand. This is a particular problem when results are uncertain or negative.
Studies of conversations between parents and clinicians when results are being given reveal complex challenges. These include explaining genetic diagnoses when the actual medical impact is uncertain, managing unexpected findings, and dealing with results that indicate a risk of an adult-onset condition that has been discovered in a child. These complexities highlight the need for specific guidance and training for clinicians to help them communicate genomic results sensitively and effectively.
The key recommendations from the study include:
- Expand genomic education and training to improve healthcare professionals’ confidence and readiness, including guidance on communicating complex or uncertain results.
- Create support roles such as genomic associates to assist with consent processes, admin, and patient communication.
- Develop national guidelines for clear, accessible written communication of results to suit families’ needs.
- Ensure consent conversations explore parents’ concerns, and explain possibilities for future data reanalysis.
- Provide psychosocial support suitable for parents facing uncertainty and challenges associated with rare and undiagnosed conditions.
- Focus on helping parents feel informed, supported, and confident — not just on delivering test results.
- Standardise whole genome sequencing service delivery processes across NHS sites to reduce variation, improve efficiency, and ensure equal access.