In this episode, we step inside the NHS to explore how the Generation Study is brought to life - from posters in waiting rooms to midwife training. We follow the journey of parents joining the study at the very start of their baby’s life, and hear from those making it happen on the ground. 

Our guests reflect on the teamwork between families and hospitals, the importance of informed consent, and the powerful insights this study could unlock for the future of care and research. 

Our host Jenna Cusworth-Bolger, Senior Service Designer at Genomics England, is joined by: 

• Tracie Miles, Associate Director of Nursing and Midwifery at the South West Genomic Medicine Service Alliance, and Co-Investigator for the Generation Study at St Michael’s Hospital in Bristol

• Rachel Peck, parent participant in the Generation Study and mum to Amber

If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts. 

For more on the Generation Study, explore: 

• Podcast: How has design research shaped the Generation Study 

• Podcast: What can we learn from the Generation Study 

• Podcast: What do parents want to know about the Generation Study 

• Blog: Genomics 101 - What is the Generation Study 

• Generation Study official website 

 “I think from a parent’s point of view I guess that's the hardest thing to consent for, in terms of you having to make a decision on behalf of your unborn child. But I think why we thought that was worthwhile was that could potentially benefit Amber personally herself, or if not, there's a potential it could benefit other children.”

You can download the transcript, or read it below.

Jenna: Hi, and welcome to Behind the Genes.  

Rachel: I think if whole genome sequencing can help families get answers earlier, then from a parent perspective I think anything that reduces a long and potentially stressful journey to a diagnosis is really valuable. If a disease is picked up earlier and treatment can start sooner, then that could make a real difference to a child or even Amber’s health and development.

Jenna: My name is Jenna Cusworth-Bolger and today I have the great pleasure to be your host. I’m a senior service designer at Genomics England specifically working with the hospitals involved in delivering the Generation Study. In March 2023 we started with our very first hospital, St. Michael’s in Bristol. I am today joined by Tracie Miles who I had the utter pleasure of working closely with when they were setting up. And we also have Rachel Peck, one of the mums who joined the study in Bristol. Regular listeners to this podcast may already be familiar with the Generation Study but for those who are not, the Generation Study is running in England and aims to sequence the genomes of 100,000 newborn babies from a cord blood sample taken at birth. The families consented to take part will have their babies screened for over 200 rare genetic conditions most of which are not normally tested for at birth. We expect only 1% of these babies to receive a condition suspected result, but for those 1,000 families that result could be utterly life changing as it could mean early treatment or support for that condition.

Would you like to introduce yourselves and tell us what it means to you to have been that first hospital open in this landmark study. Tracie, I’ll come to you first. 

Tracie: Hi Jenna, lovely to be with you all this morning. And for those who are listening it is early in the morning, we get up early in the morning because we never know when these babies are going to be born on the Generation Study and we have to be ready for them. So, my name is Tracie, I am the Co-Investigator with the wonderful Andrew Mumford, and we work together with a huge team bringing this study to life in Bristol. I am also the Associate Director of Nursing and Midwifery at the South West Genomic Medicine Service Alliance.

Jenna: Thanks Tracie. We’re also joined today by Rachel. Would you like to introduce yourself and your baby, and tell me when you found out about the Generation Study? 

Rachel: Hi, thank you for inviting me. My name’s Rachel, I’m based in Bristol. My baby is Amber; she was born four months ago in St. Michael’s hospital in Bristol. I first heard about the Generation Study when I was going to one of my antenatal appointments and saw some of the posters in the waiting room. Amber is napping at the moment, so hopefully she’ll stay asleep for long enough for the recording.

Jenna: Well done, that's the perfect mum skill to get a baby to nap whilst you’re busy doing something online. So, Rachel, you said you heard about the study from a poster. When you first saw that poster, what were your initial thoughts?

Rachel: I thought it was really interesting, I haven’t come across anything like that before and I thought the ability to screen my unborn baby at the time’s whole genome sounded really appealing. 

Jenna: Fantastic. So, what happened after the poster? 

Rachel: If I remember correctly, I scanned the QR code on the poster which took me to the website. I filled out a few simple questions online and then I was contacted by one of the research team where I arranged a formal consent conversation. That was done by Zoom I think in the evening because I’ve already got a toddler at home so post bedtime works best for me. So, we had about a forty-minute conversation on the phone where I could ask all the questions that I needed to ask and if I was happy which I was. I then gave my consent and then I believe my maternity records were kind of highlighted to say that I signed up for the Generation Study and that when my baby was born then a sample was going to be taken, and I would be given the results in due course.

Jenna: And did all that go smoothly, that you’re aware of?

Rachel: Yeah, as far as I’m aware. It was genuinely really simple to do. After that initial consultation where I signed the consent form there wasn’t any follow-up appointments so the next thing I knew, I think it was just chance, but one of the research nurses actually came down to see me on the day which was really nice. Just to say, ‘Oh, just to let you know that the team are aware.’ And then, other than that, the next thing I knew was getting the results through by post.

Jenna: Sure. So, behind the scenes your baby’s blood was collected from the umbilical cord, that would have been registered, packaged, sent off and went on a whole journey for you to ultimately get your result. It all sounds very simple, but I think we’re going to dig into a lot of the mechanisms that kind of went behind the scenes to make something that seems simple come to life. Tracie, we met in the summer of 2023 I believe. I came to St. Michaels with a suitcase full of our materials which we had started to bring to life, including that poster. We’ve sat together and we were trying to figure out exactly how this was going to come to life in our very first hospital and how, what Rachel described, was actually going to become real. Tracie, can you tell me what you remember about those conversations and the thinking that you did as a team ahead of getting that green light to go ahead and start recruiting? 

Tracie: Listeners, just to let you know that Rachel hasn’t been primed to say that it was a seamless journey from delivery to getting results. I’m delighted to hear that it was. And I think the reason that we’ve achieved that in Bristol and across England now with the other teams that Jenna and the team have helped roll out, is teamwork. And part of our team is our mum, in this case Rachel. If you hear me or Jenna describing our mums as "Mia", that's the name, the significant name or the identifier we give for our participant. So, yeah, Jenna, I think the thing was it was about those first conversations. It was about teamwork and who shall we involve? We involved everybody didn’t we, Jenna? So, I know that the team, by the time they came to us they'd already been planning for two years. So, in fact what came to us in Bristol was a wealth of work and information, and two years of behind the scenes of the team working. We involved every midwife. Now a midwife is a cover all term. 

We involve community midwives, research midwives, antenatal midwives, post-natal midwives. They all do different things for the mum pathway. Not forgetting dad as well, he is involved in all of this and Rachel I’m sure will testify later to the fact that when she was offered the consent, her partner was offered to come along too. UHBW, that’s United Hospital Bristol and Western, that our maternity hospital as part of, have got a fantastic R&D department and they were on straightaway with the rule book checking that we knew what we were doing. So, for those of you that aren’t in the medical world, that's making sure we’ve got the right governance, that we’re doing things by the rule book. Andrew went out and spoke to lots of different clinicians that would be involved in the pathway after the results were back, for those babies where we found a condition suspected. So, essentially Jenna, I