The Generation Study, a world-leading initiative led by Genomics England in partnership with NHS England, has begun testing newborns for over 200 rare genetic conditions. This pioneering study aims to screen up to 100,000 newborns across England, which could lead to early diagnosis and treatment of rare genetic disorders.

By identifying treatable, rare conditions shortly after birth, we can intervene much earlier than ever before. This early intervention could significantly improve outcomes, potentially slowing disease progression and, in some cases, extending lives.

Consider the case of Joshua Curtis, whose story highlights the critical importance of early diagnosis. Joshua’s family spent two years seeking a diagnosis for his metachromatic leukodystrophy (MLD). Had this study been available when Joshua was born, he might have benefited from life-changing gene therapy available on the NHS. Stories like Joshua’s underscore the urgency and importance of our work.

An NHS at the heart of the study

The NHS is a recognised world-leader in genomics and plays a central role in this research. The NHS was the first healthcare system in the world to offer whole genome sequencing (WGS) as part of routine care. WGS is a genomic test that generates data on a person’s entire set of DNA and is currently offered on the NHS for seriously ill children with a suspected rare genetic disorder, all children with cancer, and adults suffering from certain conditions or cancers.

By studying the potential of using WGS from birth for all newborns participating in the Generation Study, we can find out whether delivering early treatments for those with rare genetic conditions could transform a young patient’s care and whether there are longer term benefits of having WGS from birth.

While Genomics England leads the study, it is our NHS teams who are at the forefront of patient care and support. NHS staff are integral to the recruitment process, engaging with expectant parents and guiding them through the decision to participate.

Crucially, it is the NHS that will confirm any diagnoses identified through the study and take responsibility for the subsequent care and treatment of these babies. This integration ensures that families receive seamless support from initial testing through to long-term care within our health system.

Standardising care pathways

One of the most significant advancements accompanying this study is the development of over 200 standardised care pathways. Working closely with clinical leads and other experts, we have created these pathways to ensure consistent, high-quality care for babies identified with rare conditions. This level of standardisation represents a major step forward in how we approach the care of these patients.

The conditions included in this study have been carefully selected based on several key criteria and include conditions that usually appear in the first few years of life, can be improved if identified early and can be treated through the NHS in England.

Our plan is to expand the study to involve 40 hospitals in the recruitment process. This expansion will allow us to reach a more diverse population and gather data that is truly representative of our national demographic.

The NHS Genomic Medicine Service: a platform for innovation

This study builds upon the foundation laid by the NHS Genomic Medicine Service. By leveraging our existing infrastructure and expertise, we are uniquely positioned to implement this type of innovative and large-scale study effectively.

As we move forward with the Generation Study, we are also mindful of the ethical considerations and the importance of informed consent. Our teams are committed to providing comprehensive information and support to expectant parents, ensuring they can make informed decisions about their participation.

As we continue this important work, I want to express my gratitude to all the NHS staff, researchers, and families participating in this study. Your contributions are helping us to understand how genetic conditions can be identified and addressed earlier, to give these children the best possible start in life.

Further information about the Generation Study is available on the Generation Study website and in this news article.