Can we change the rules of medicine?

Advances in genomics are making it possible to develop treatments for individual patients with rare genetic conditions. But how can we get these treatments to the people who need them when traditional medicine development is designed for much larger groups of patients? 

In this episode, our guests explore the challenges of developing and approving personalised medicines, and how researchers, regulators and patient advocates can work together to bridge the gap between scientific advances and patient access. 

Our host Sharon Jones is joined by: 

• Dr Dan O’Connor, Executive Director Regulatory, Association of the British Pharmaceutical Industry (ABPI) 

• Julia Vitarello, founder and CEO of Mila’s Miracles Foundation 

• Professor Rich Scott, CEO of Genomics England 

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

 “The technology's there, and it's now just saying, "Well, actually, can the system catch up?" And that's really the clear message I think we have to do. We've got to somehow align with the fast-evolving opportunities that new technology will offer us, and ensure that patients get the medicines they really need.”

 

You can download the transcript, or read it below.

Sharon Jones: Hello and welcome to Behind the Genes, the podcast that brings you the stories, research, and innovations shaping the future of genomic healthcare. For decades, medicines have been developed and tested for large groups of people, but advances in genomics are opening up new possibilities, including treatments tailored to an individual's genetic condition.

So how do you adapt a system built for thousands of patients when there may only be a handful of people in the world who could benefit from a particular treatment?

[00:00:30] Today, we're exploring how researchers, regulators, and patient advocates are working together to rethink the way new medicines are developed and approved.

I'm Sharon Jones, and joining me today are Dr. Dan O'Connor, executive director regulatory, the Association of the British Pharmaceutical Industry; Julia Vitarello, Mila's mum, and founder and CEO of Mila's Miracles Foundation; and Professor Rich Scott , CEO of Genomics England.

[00:01:00] By the way, you're going to hear a powerful story from Julia about her daughter, Mila.

Sharon Jones: If you want to hear it in full, the episode is called Mila to Millions, and you can find it in the episode description. Julia, I'd like to start with you. You've shared your story with us on the podcast before, but for listeners who may not know it, can you briefly explain what's brought you here today?

Julia: Yeah. Thank you, Sharon.

[00:01:30] My daughter, Mila was born completely typical and was running around and hiking and singing and playing like other children until she was six when she was diagnosed with 100% fatal rare genetic disease called Batten Disease. And I was told in just one minute that my daughter would lose all of her abilities and die in the next few years.

As you can imagine, my life in many ways ended in that moment. All my hopes and dreams of my daughter just were erased in one minute to the next.

[00:02:00] But I saw her fighting. I saw her lose her vision. I saw her lose her ability to eat by mouth and have a G-tube put in and start having up to 30 seizures a day, and she was still smiling and laughing.

And I just said, "You know, if she can fight, I can fight." And I started a foundation and raced against time alongside Boston Children's Hospital and Dr. Timothy Yu. And in a very miraculous, Herculean effort to save my daughter's life, we moved to Boston one year later, and my daughter started receiving a medicine called Milasen that was named after her.

And the reason it was named after her