RARE - Ellen Thomas

On this episode of RARE, I have the pleasure of speaking with Ellen Thomas. Ellen is the Chief Medical Officer at Genomics England, a global leader in enabling genomic medicine and research, with a vision of creating a world where everyone benefits from genomic healthcare. It was established in 2013 and is owned by the Department of Health & Social Care. 

A Legacy of Innovation: From the 100,000 Genomes Project to Nationwide Impact

Initially launched to deliver the 100,000 Genomes Project, Genomics England has made substantial strides in using whole-genome sequencing to diagnose and treat rare conditions and cancers. The Project’s success has provided actionable diagnoses for thousands of patients while creating a de-identified genomic data resource, the National Genomic Research Library, to support academic and industry research.

Today, Genomics England continues to support the NHS by offering diagnostic genome sequencing services and expanding its genomic database to drive further innovation.

The Generation Study: A New Era of Genomic Healthcare

The Generation Study represents a bold step forward. It seeks to determine whether genomic sequencing at birth can identify rare conditions before symptoms arise, allowing for earlier interventions and potentially life-saving treatments. Ellen highlighted how this study aims to benefit newborns by providing actionable insights into conditions that can be treated early in life, reducing harm and improving health outcomes.
This initiative is now live in several hospitals across the UK, with families participating to help shape the future of genomic medicine. The study will also create a valuable research resource, enabling scientists to explore new questions about how genomics can improve lives when applied early.

Public Engagement at the Core

The study was co-designed through extensive consultations with patients, families, and the public. Feedback emphasized the importance of focusing on conditions where intervention or treatment is possible and ensuring follow-up tests to confirm diagnoses, which aligns with the ethical and practical priorities of stakeholders.

A Vision for Rare Disease Healthcare

Ellen underscored the transformative potential of earlier diagnoses for rare diseases, a common challenge across the healthcare landscape. By detecting conditions earlier, families gain access to interventions that can significantly improve quality of life.

Looking Ahead

Genomics England is building on its legacy of innovation, ensuring that genomic insights lead to tangible benefits for patients and families. The Generation Study is a testament to the organization’s commitment to harnessing genomic data to create a healthier future.
For more information on the Generation Study and Genomics England’s work, visit their website which can be found here: https://www.genomicsengland.co.uk/
More information about The Generation Study can be found here: https://www.genomicsengland.co.uk/initiatives/newborns 

Thank you to Ellen for taking the time to feature!

All views expressed are Ellen’s own.