Webinar recap: Clinical, social, and ethical perspectives on newborn genome sequencing

This webinar, hosted by Sano CEO Dr. Patrick Short and featuring Dr. Wendy Chung, Dr. Holly Peay, and Kira Dineen, offered a deep dive into the latest advancements in newborn screening, showcasing how cutting-edge genetic technologies are paving the way for a new era in medical care for our youngest patients. The link to the full webinar is here; a brief summary is below for easy reference.

About the speakers

Wendy Chung, M.D., Ph.D

Wendy Chung is a renowned clinical geneticist specialising in neurodevelopmental disorders who currently serves as the Chair of Pediatrics at Boston Children's Hospital and Harvard Medical School. Her educational journey includes a B.A. in biochemistry and economics from Cornell University, an M.D. from Cornell University Medical College, and a Ph.D. in genetics from The Rockefeller University. Dr. Chung's extensive research has led to the discovery of over 60 genes associated with human diseases, including several neurodevelopmental syndromes named after her. She has made significant contributions in areas such as autism spectrum disorder, spinal muscular atrophy, and rare genetic conditions, and has been actively involved in public advocacy, including participating in the Supreme Court case against gene patents.

Holly Peay, Ph.D., MS, CGC

Holly Peay is a Senior Research Public Health Analyst at RTI International and an adjunct Assistant Professor at the Johns Hopkins Bloomberg School of Public Health. She earned her MS from the University of South Carolina School of Medicine. Dr. Peay's work primarily focuses on newborn screening, including leading the Early Check research study in North Carolina. This study aims to develop and evaluate methods for screening conditions not currently part of the routine newborn screening panel. She has a long-standing interest in Duchenne muscular dystrophy and brings a unique combination of bioethics, social science, and genetic counselling to her work.

Kira Dineen

Kira Dineen is a prenatal genetic counsellor and a recognised figure in the field of genetics communications and public engagement. With a background in genetic counselling, she is known for her efforts in making complex genetic information accessible and understandable to the public through avenues such as her multi-award winning podcast “DNA Today.” Dineen often works at the intersection of genetics and media, using various platforms to educate about newborn sequencing and its implications. Her work is instrumental in raising awareness and understanding of genetic testing and its role in early childhood health.

Patrick Short

Patrick Short is a Cambridge-trained PhD geneticist with experience researching large-scale genome sequencing and rare disorders. He is dedicated to driving the world’s transition to precision medicine through Sano, which combines genetic testing, recruitment, and long-term engagement in one platform, accelerating enrollment and simplifying operations for precision medicine studies.

Highlights from the webinar

The discussion underscored the potential of large-scale newborn screening programs, highlighting several critical areas:

Expanding screening scope: The panellists shared insights into how newborn screening is evolving to include a broader range of genetic conditions. This expansion aims to identify health issues early on, allowing for timely interventions that can significantly improve outcomes for affected children.

Ethical and practical considerations: The ethical implications of widespread genetic screening were a major focus. Concerns such as consent, privacy, and the potential psychological impact on families were discussed, stressing the need for clear communication and ethical guidelines.

Technological advancements: The webinar showcased the latest technological strides in genetic screening, including genome sequencing. These advancements offer unprecedented precision in detecting genetic conditions, but also raise questions about cost, accessibility, and the integration of new technologies into existing healthcare frameworks.

Future directions: Looking ahead, the speakers emphasised the importance of collaboration among geneticists, healthcare professionals, and families. They advocated for continued research and dialogue to navigate the challenges and opportunities presented by newborn screening advancements.

Summary

The webinar offered a glimpse into the future of paediatric healthcare, driven by innovations in newborn screening. Insights from this esteemed group of speakers underscored the importance of ethical considerations, technological advancements, and collaborative efforts in realising the full potential of these breakthroughs. As we move forward, the commitment to enhancing early detection and treatment in early childhood promises to transform outcomes and pave the way for healthier futures.

To learn more about the work Sano is doing to drive precision medicine research forward, please get in touch below.