“Nothing about me without me!” is the rallying cry for patient involvement in research. In the latest episode of Genetics Unzipped, recorded at the recent Festival of Genomics in London, science writer and broadcaster Kat Arney discovers why it’s so important to make sure that both academic and commercial genomic research studies are done with rather than on participants.
Research into genetic conditions relies on information from patients and their families, whether that’s detailed health records, biological samples or genomic data. As the tools and techniques for DNA and data analysis become cheaper and more organisations get in on this fast-growing field, it’s vital to make sure that the most valuable research resource – human lives – doesn’t get overlooked in the rush.
Fiona Copeland is the chair of a support group for UK families affected by primary ciliary dyskinesia or PCD – a rare genetic condition that affects the lungs – and is the mother of two adult sons with the condition.
She’s spent many years acting as a patient representative, engaging with academic and industry scientists looking to involve PCD patients in research into understanding and treating the condition. Speaking with Kat, Fiona explains what her role involves and shares her advice for how researchers can engage and involve patient groups more effectively.
“One of the main things that I’ve been asked to do is go to meetings – sometimes in person but quite often I’ll do it by telephone because that’s easier for me. And they realised that I’m more likely to attend a meeting if it’s by phone than if you want to take a whole day to go to an hour’s meeting.”
As part of this role, Fiona is often asked to review grant applications involving patients, highlighting the importance of researchers providing a plain English summary of the project.
“They’ll ask me to review research applications, to see whether the lay summary is actually understandable by someone that doesn’t understand science.”
Her top tip for researchers? Don’t make children cry by doing unnecessary investigations!
“I looked at one [application] and they suggested they were going to do muscle biopsies on small children. As a parent, I said, ‘I don’t think that many patients are going to say yes to that. Why do you need to do it?” Then once I’d done that questioning, they said, ‘Well, actually we just wanted to do it because it was a nice to have.’
“Well, a nice to have for a small child…? You don’t want to make a small child cry, because that’s what would happen.”
While some companies using patients in research have come under scrutiny for poor handling of data and ethical compliance, Short is keen to help organisations do better and drive change in the fast-growing commercial genomics sector.
“I think above all, we’re seeing a shift where people are systematically thinking about who the end user or the customer really is. Whether you’re a researcher, whether you’re a pharma company, ultimately we are all doing this for patients,” he says.
“While that’s quite well-known and we do think about that, it’s often not always reflected in the way the processes of a business are set up, or how we go about doing things.
“So I think that thinking about very tangible ways that we can re-orient business practices, the way we design software or tools to keep that in the very forefront of our minds and not as an afterthought, that actually it’s about bringing patients closer to research and researchers closer to patients, at the end of the day.”
Finally, we hear from Shelley Simmonds, a disability rights campaigner and rare disease advocate whose son Fraser was initially given a diagnosis of Duchenne Muscular Dystrophy as a baby.
When Fraser didn’t seem to be progressing as might be expected for a child with the disease, Shelley and her family got involved in Genomics England’s 100,000 Genomes Project in search of clarity – but things turned out not to be quite so simple. Shelley talks to Kat about what happens when the question “What’s wrong with my child?” has no answer.
“We went along to the clinical research facility at Great Ormond Street and we had some bloods taken. That was myself, my husband and my son,” she explains. “They took the bloods; we signed the consent forms and then went home and waited for two and a half years to have an answer.”
It’s a long time to be waiting, but Shelley just had to put it to the back of her mind.
“They did tell us when we enrolled in the project that it wouldn’t be a quick answer, so we were aware of that,” she says. “The issue is that we did wait two and a half years for the answer and the answer is that there is no answer. Of the panels tested for my son, nothing else was found – so we are no further forward than we were four years ago.”
Listen to the full episode now at GeneticsUnzipped.com
Genetics Unzipped is the podcast from the UK Genetics Society, presented by award-winning science communicator and biologist Kat Arney and produced by First Create the Media. Follow Kat on Twitter @Kat_Arney, Genetics Unzipped @geneticsunzip, and the Genetics Society at @GenSocUK