Innovating Pediatric Healthcare with Genomics

Dr. Catherine Brownstein is an Assistant Professor in Pediatrics at Harvard Medical School and the Assistant Director of the Molecular Genetics Core Facility at Boston Children's Hospital. Her current work focuses on advancing the fields of genome sequencing and analysis, with an emphasis on identifying complex structural variation.

Through this article, Dr. Brownstein highlights the transformative impact of genetics and genomics on pediatric healthcare, emphasizing its role in diagnosing rare diseases, developing personalized treatment plans, and improving patient outcomes.

My professional journey has been shaped by a combination of curiosity, a passion for discovery, and a desire to impact patient care. I began my academic training in human genetics, where I became fascinated with how genetic mutations can have profound effects on health and development. Early in my career, I was involved in research that used cutting-edge genomic technologies to understand rare diseases (back when an exome was $3800!).

Key experiences along the way included my work with global collaborations, which gave me a broader understanding of how complex and multi-faceted genetic research can be. This work also emphasized the importance of collaborations between academia and industry, which is something I’ve carried with me throughout my career. My role at the Manton Center for Orphan Disease Research at Boston Children’s Hospital was a natural fit, as it allowed me to combine my research in genetics and emerging technologies, helping to translate discoveries into meaningful improvements in patient care. Today, I’m deeply involved in developing genomic resources and studying rare diseases, all with the goal of improving diagnosis and treatment options for patients.

Challenges in Pediatric Healthcare Technology

Ethical considerations also play a significant role in pediatric research. Gaining consent, ensuring minimal risk, and balancing the potential benefits of innovative treatments are ongoing challenges. Children represent a vulnerable population, and any new technology must undergo rigorous safety testing before implementation.

At Boston Children’s Hospital, we address these challenges through a collaborative approach that integrates researchers, clinicians, and patient families. We prioritize safety and efficacy by working closely with regulatory bodies and patient advocacy groups. Our team also emphasizes personalized medicine, using genetic information and other biomarkers to tailor treatments to the individual child. By leveraging cutting-edge technologies like long-range sequencing and proteomics, we aim to provide innovative solutions to diagnostic dilemmas.

“One of the most transformative technologies has been genetics and genomics. Through large-scale sequencing efforts, we’ve been able to identify genetic variants responsible for a variety of rare and complex conditions, which has had a direct impact on diagnosis, personalized treatment plans, and even preventative care”

Impact of Technology on Pediatric Care and Research

Technology has revolutionized both medical research and patient care at Boston Children’s Hospital, particularly in the field of pediatrics. One of the most transformative technologies has been genetics and genomics. Through large-scale sequencing efforts, we’ve been able to identify genetic variants responsible for a variety of rare and complex conditions, which has had a direct impact on diagnosis, personalized treatment plans, and even preventative care.

Additionally, digital tools and platforms like electronic health records (EHRs), machine learning algorithms, and data integration systems have enabled us to analyze patient data at a scale previously unimaginable. This allows for better tracking of health outcomes and early detection of emerging issues. We've also integrated telemedicine, wearable devices, and remote monitoring tools, which have made it easier for families and patients to access care, especially for those who might live far from our facility.

At Boston Children’s, we are deeply committed to using these cutting-edge technologies not only to advance scientific discovery but also to translate these findings into real-world clinical applications that benefit our pediatric patients in meaningful ways.

Ensuring Data Security and Patient Privacy

I am lucky that BCH has a fantastic information technology team that ensures that our data is kept secure. We work closely with them when we get any new technology to make sure it is brought online safely.

Future Advancements in Pediatric Healthcare

I’m most excited about the adoption of N of 1 therapy. My colleagues here at Boston Children’s Hospital (for example, Timothy Yu, David Williams, and Alan Beggs) have done some incredible things in this area. Enabling this progress is the rapid drop in the price of genome sequencing and the adoption of long-range sequencing. We are also chipping away at that low diagnostic rate for next-generation sequencing by improving analysis pipelines and combining with things like transcriptome sequencing. 

Advice For Aspiring Healthcare Researchers

I would say to make sure to keep an open mind—I wouldn’t have dreamt of some of the technologies I use daily now! Stay positive and take advantage of opportunities!