Researcher on the rise: Holly Ellard

Researcher Holly Ellard explores communication in the NHS Genomic Medicine Service by looking at letters sent to patients.

I am interested in people’s experience of disease

I originally studied biology at the University of Bath, before completing a Master’s in genetic and genomic counselling at Cardiff University.

I became interested in how people experience genetic disease, how knowing about their genetics can impact their life, and what this means for the introduction of genomics into healthcare.

During my Master's, I studied written letters returning test results to patients in the NHS Genomic Medicine Service (GMS), supervised by Doctor Celine Lewis.

Since finishing my studies, I’ve been working as a research assistant under Dr Lewis as part of her broader research on the GMS in its earliest years.

The Genomic Medicine Service is bringing answers to families

The GMS was launched in 2018 by the NHS.

It aims to deliver genomic testing into routine care for NHS patients, specifically those with rare conditions and cancers.

Whole genome sequencing is a technology that sequences the entire genetic code of an individual. It allows us to study specific genes in a patient that might be associated with their condition.

Using this technology, the GMS was set to have a big impact for the management and diagnosis of children in the NHS with rare conditions, as it is them who are mostly affected. That's why our research focused on paediatric rare conditions specifically.

Why is good communication important?

When patients have any kind of medical test, the information they receive can be overwhelming. Even with genetic tests that look at one single gene, the results can be a lot to take in.

Whole genome sequencing is more extensive and complicated than other types of genetic testing. The results are not always clear cut, and not every family will receive a concrete diagnosis.

It is so important for us to communicate to patients in a clear and accessible way, and to support them in making informed decisions at every step in the process.

The risks of poor communication

Uncertainty around whole genome sequencing is one of the biggest challenges in communication. This could be diagnostic uncertainty because the test didn't find the cause, but also when a diagnosis has been reached and there's uncertainty around prognosis or treatment.

A patient having unanswered questions or misunderstanding their result is one of the major risks, particularly if this impacts how they manage their condition and their health.

Further to this, a patient may communicate their genetic information to family members, so misunderstandings may have implications beyond the patient.

It is important that patients know what support and advice is available when communicating with relatives about their result, now and in the future.

Looking at letters to patients

During my Master’s, I looked at letters returning results to parents of children with neurodevelopmental conditions. We wanted to understand what information was being provided, and how clinicians were navigating the emerging service.

We evaluated 37 letters over the course of a year, and found that their contents generally matched what would be expected from Health Education England.

We found that some letters covered topics that other letters missed, and all in varying levels of detail. This was to be expected, as there is no one-size-fits all approach to communicating; it is very much dependent on the healthcare professional and the context of the test.

We also noticed that uncertainty arising from genomic results was discussed in nearly all letters, even those where a diagnosis was provided.

However, we did find that letters were often written at a higher than recommended reading level, meaning they were not always as readable or accessible as they could have been.

It is important that we identify these areas for improvement in the early stages of the GMS, as they could really affect how patients understand and adapt to their results.

Good communication makes a difference

Good communication is critical for patients to understand their result, what the implications are, and what support is available to them.

I hope that the findings from our study and continued research into the GMS will help us find barriers and enablers of successful communication. This would help to create recommendations for best practice and to support clinicians in the expanding workforce.

Communication should be tailored to each individual so that they receive the level of information they need. Welcoming and responding to their questions and concerns is such a vital part of the communication process, and the patient should always remain at the heart of it.

What’s next for me?

The evaluation of the letters is now finished, but this forms just one piece of the puzzle for us. I will continue to work under Dr Lewis until 2025, evaluating other types of communication in the GMS.

After that I hope to do a PhD. I am really interested in emerging genomic technologies, which is why I was initially interested in the GMS.

I want to continue understanding the experiences of patients and healthcare professionals with these newer processes and technologies. I think it’s so important as they become more routine in healthcare.

And finally…

I would like to thank Doctor Celine Lewis for the opportunity to contribute to her study, and to learn from her expertise in qualitative and mixed method approaches, which were so valuable for this project.

The research is affiliated with UCL Great Ormond Street Institute of Child Health, Population, Policy and Practice Research Department, and Cardiff University School of Medicine.

To read about more research surrounding the GMS and the National Genomic Research Library, check out the other Researcher on the rise blogs.