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The potential impact that genome sequencing can have on public health initiatives such as newborn screening is becoming increasingly evident. While traditional screening methods have played a crucial role in detecting a limited number of disorders early in life, whole genome sequencing (WGS) offers a more comprehensive approach. By enabling the early identification of a broader range of conditions, WGS could pave the way for more timely and personalized interventions.
To explore how implementing WGS in newborn screening could enhance the diagnosis and treatment of rare genetic conditions, Genomics England is leading the Generation Study in partnership with the National Health Service. This ambitious initiative will sequence the genomes of 100,000 newborns to screen for over 200 rare genetic conditions.
Technology Networks recently spoke with Dr. Madhuri Hegde, senior vice president and chief scientific officer of Revvity, to learn more about the company’s role in this pivotal study. Hegde discussed how Revvity’s integrated DNA extraction and sequencing services are streamlining screening workflows and shared her perspective on advancing innovation in genomic research.
Anna MacDonald (AM):
Senior Science Editor
Technology Networks
Anna is a senior science editor at Technology Networks. She holds a first-class honors degree in biological sciences from the University of East Anglia. Before joining Technology Networks she helped organize scientific conferences.
How could the integration of WGS transform newborn screening, and what implications could it have for early intervention strategies?
Senior Vice President and Chief Scientific Officer
Revvity
Dr. Madhuri Hegde is the senior vice president and chief scientific officer of Revvity and an adjunct professor of pediatrics at Emory University School of Medicine.
Genome sequencing will help identify babies with genetic disorders that may not be picked up by the current screening algorithm using biochemical and targeted molecular assays. With the addition of sequencing data, we will hopefully be able to 1) improve health outcomes by identifying more babies with treatable genetic disorders early and 2) reduce the number of babies being admitted into the NICU/PICU due to an inherited genetic disorder and as such save healthcare systems money and reserve space/capacity in NICU/PICU for other sick babies.
AM:
Senior Science Editor
Technology Networks
Anna is a senior science editor at Technology Networks. She holds a first-class honors degree in biological sciences from the University of East Anglia. Before joining Technology Networks she helped organize scientific conferences.
What are the primary challenges healthcare systems face when implementing large-scale genomic screening programs for newborns, and how can they be addressed?
MH:
Senior Vice President and Chief Scientific Officer
Revvity
Dr. Madhuri Hegde is the senior vice president and chief scientific officer of Revvity and an adjunct professor of pediatrics at Emory University School of Medicine.
There are many things to consider during the implementation of any large-scale genomic screening program. There needs to be robust and extensive consultation with all stakeholders around topics like testing consent, data privacy and security and to what diseases should be reported. Only through collaboration and consensus building will we as a community be able to address these challenges.
AM:
Senior Science Editor
Technology Networks
Anna is a senior science editor at Technology Networks. She holds a first-class honors degree in biological sciences from the University of East Anglia. Before joining Technology Networks she helped organize scientific conferences.
Can you tell us more about Revvity’s role in the Generation Study?
MH:
Senior Vice President and Chief Scientific Officer
Revvity
Dr. Madhuri Hegde is the senior vice president and chief scientific officer of Revvity and an adjunct professor of pediatrics at Emory University School of Medicine.
Revvity is proud to extend our collaboration work with Genomics England especially in the Generation study. Samples from various hospitals in England will be sent to our highly automated CAP, ISO15189-certified high-complexity laboratory in Manchester for DNA extraction and WGS. In addition, Revvity will preserve any excess primary sample and genomic DNA in a biobank.
AM:
Senior Science Editor
Technology Networks
Anna is a senior science editor at Technology Networks. She holds a first-class honors degree in biological sciences from the University of East Anglia. Before joining Technology Networks she helped organize scientific conferences.
With Revvity now providing both DNA extraction and sequencing services, how does this integrated approach enhance the efficiency and reliability of newborn screening processes?
MH:
Senior Vice President and Chief Scientific Officer
Revvity
Dr. Madhuri Hegde is the senior vice president and chief scientific officer of Revvity and an adjunct professor of pediatrics at Emory University School of Medicine.
Providing both DNA extraction and sequencing services will allow our laboratory to generate high-quality data quicker and in a more cost-effective manner. This allows our laboratory to generate data from a primary blood specimen within a week after the sample is received in the laboratory. As our service program develops in the UK, our laboratory fully anticipates being able to offer an ultra-rapid sequencing service similar to what we offer in the USA, where we are able to return a clinical-grade whole genome report in as little as 50 hours.
AM:
Senior Science Editor
Technology Networks
Anna is a senior science editor at Technology Networks. She holds a first-class honors degree in biological sciences from the University of East Anglia. Before joining Technology Networks she helped organize scientific conferences.
Beyond the Generation Study, how does Revvity plan to leverage its collaboration with Genomics England to drive further innovations in genomic research?
MH:
Senior Vice President and Chief Scientific Officer
Revvity
Dr. Madhuri Hegde is the senior vice president and chief scientific officer of Revvity and an adjunct professor of pediatrics at Emory University School of Medicine.
We have been very deliberate in placing our CAP, ISO15189 high complexity laboratory in the city of Manchester. This allowed Revvity to invest in a part of England where such high-complexity testing is not widespread and where genomic talent is lacking. We hope that through our work with Genomics England and other collaborators to be the training ground and the genomics foundation for which others can build on in the future.
