Revvity, formerly PerkinElmer, will expand its work with Genomics England to continue National Health Service (NHS) England's Generation Project involving whole genomic sequencing (WGS) newborn testing.
Hundreds of babies have begun to be tested for over 200 rare genetic conditions as part of the Generation Study in NHS hospitals in England, where the goal is to screen up to 100,000 newborns, according to Genomics England. The study offers WGS using blood samples which are usually taken from a newborn's umbilical cord shortly after birth.
In the study, which launched earlier this year, Revvity’s Omics laboratory in Manchester, U.K., will work with Genomics England to advance the early detection of genetic conditions in newborns. Utilizing the Chemagic 360 instrument, Revvity’s team will extract DNA from the cord blood samples, the company said.
Testing through the study, however, is not intended to replace routine screening, according to Genomics England, which in early October said that more than 1,000 participants had consented to join.
Following consultation, the Generation Study is only analyzing the genomes for the 200-plus selected conditions that can be treated in the NHS in early childhood. Dr. Ellen Thomas leads the endeavor as chief medical officer, and the study will also support broader healthcare research to improve testing and discover more treatments.
Additionally, the Generation Study will consult a range of groups including families, participants, and the wider public on exploring the possible risks and benefits of storing an individual’s genome over their lifetime and using it to help predict, diagnose, and treat future illnesses, Genomics England stated.
Birth parents who agree to their baby taking part in the Generation Study will have their baby’s data stored in the National Genomic Research Library (NGRL). Deidentified genomic and health data in the NGRL can be accessed by approved researchers via a secure research environment, according to Genomics England.
“This partnership is an important contributor to our goal of researching earlier diagnosis and intervention for rare genetic conditions in newborns," Thomas said in a Revvity news release. "By uniting Genomics England’s research expertise with Revvity’s advanced laboratory capabilities, we are proud to reinforce our commitment to advancing genomics research.”
Speaking on behalf of Revvity during the Robert W. Baird Healthcare Conference September 10, Stephen Willoughby, Revvity's senior vice president of investor relations, explained that the company is now focused on specialty diagnostics, life science reagents and consumables, applied genomics, and preclinical software.
