Revvity and Genomics England Expand Newborn Genetic Testing Initiative
Revvity, formerly known as PerkinElmer, is expanding its collaboration with Genomics England. This partnership focuses on the National Health Service (NHS) England’s Generation Project, which conducts whole genomic sequencing (WGS) tests on newborns.
The project tests hundreds of babies for over 200 rare genetic conditions. The aim is to screen up to 100,000 newborns in NHS hospitals across England. Blood samples, typically taken from the umbilical cord shortly after birth, are used for testing.
Revvity’s Omics laboratory in Manchester will assist Genomics England in enhancing early detection of genetic conditions in newborns. Their team will use the Chemagic 360 instrument to extract DNA from the cord blood samples.
It is important to note that this testing is not a replacement for routine screening. Genomics England reports that over 1,000 families have agreed to participate in the study, which focuses on analyzing genomes for selected conditions treatable in early childhood.
Dr. Ellen Thomas, the chief medical officer, leads the Generation Study. This research also aims to improve healthcare practices and develop new treatments.
What are the benefits of whole genome sequencing for newborns in the NHS Generation Project?
Interview with Dr. Ellen Thomas, Chief Medical Officer of the Generation Study at Genomics England
Interviewer: Thank you for joining us, Dr. Thomas. Revvity, formerly known as PerkinElmer, has announced an expansion of its collaboration with Genomics England. Can you elaborate on the significance of this partnership in relation to the NHS’s Generation Project?
Dr. Ellen Thomas: Absolutely, and thank you for having me. This expanded collaboration with Revvity is pivotal for the Generation Project. Our focus is to perform whole genomic sequencing on newborns, enabling us to screen for over 200 rare genetic conditions. The aim is to include up to 100,000 newborns from NHS hospitals across England. By identifying these conditions early, we can improve clinical outcomes and, in many cases, even provide treatment at an early stage.
Interviewer: That sounds like a transformative initiative. How exactly does the testing process work for newborns, and what role does Revvity play in it?
Dr. Ellen Thomas: Blood samples are typically taken from the umbilical cord shortly after birth. Revvity’s Omics laboratory in Manchester will be instrumental in processing these samples. They will use the Chemagic 360 instrument to extract DNA from the cord blood samples, which allows us to conduct thorough genomic testing. While this testing is crucial, it is important to clarify that it is an augmentation and not a replacement for routine screening procedures.
Interviewer: It’s reassuring to know that the regular screening will still be in place. Can you share how many families and newborns are currently involved in this study?
Dr. Ellen Thomas: So far, we have over 1,000 families who have agreed to participate in the study. The widescale analysis of genomes will focus on conditions that can be treated early in childhood, which is of great importance to both the families and researchers involved.
Interviewer: What ethical considerations are being addressed in this study, particularly concerning the storage of genetic data?
Dr. Ellen Thomas: That’s an essential aspect of our research. We will engage in detailed discussions with families and the public about the implications of storing an individual’s genome for future medical purposes. Parents who consent to their child’s participation will have their newborn’s data stored in the National Genomic Research Library. It’s crucial that this data is handled securely and deidentified to safeguard privacy while enabling researchers to access valuable genomic and health data.
Interviewer: How do you envision this partnership influencing healthcare practices in the future?
Dr. Ellen Thomas: Our collaboration with Revvity is crucial for advancing early diagnosis and intervention for rare genetic conditions. By combining our expertise, we hope not only to identify these conditions early on but also to develop new treatments that can significantly impact a child’s quality of life. The insights we gain through this research will be instrumental in informing healthcare practices for both present and future generations.
Interviewer: Stephen Willoughby from Revvity discussed their commitment to specialty diagnostics and applied genomics at the Robert W. Baird Healthcare Conference. How does this align with the objectives of the Generation Study?
Dr. Ellen Thomas: It aligns perfectly. Revvity’s focus on specialty diagnostics complements our objectives as we aim for precision medicine strategies in newborn care. Together, we are dedicated to paving the way for advancements in genomics that will transform healthcare practices and ultimately improve lives. Our efforts in this study are a testament to our commitment to advancing early detection and treatment of genetic conditions.
Interviewer: Thank you, Dr. Thomas, for sharing your insights on this important initiative.
Dr. Ellen Thomas: Thank you for having me. It’s a pleasure to discuss this transformative work that holds great promise for many families.
The study will involve discussions with families and the public about the risks and benefits of storing an individual’s genome for future medical predictions, diagnoses, and treatments. Parents who consent to their child’s participation will have their baby’s data stored in the National Genomic Research Library (NGRL). Researchers can access the deidentified genomic and health data securely.
Dr. Thomas emphasized that this partnership is crucial for advancing early diagnosis and intervention for rare genetic conditions in newborns. Revvity and Genomics England will combine their expertise to support genomics research.
During the Robert W. Baird Healthcare Conference on September 10, Stephen Willoughby, Revvity’s senior vice president of investor relations, highlighted the company’s focus on specialty diagnostics and applied genomics, reinforcing its commitment to healthcare advancements.