WEBINAR
Unlocking Comprehensive Genomic Insight: Clinical Blended Genome-Exome Sequencing in Practice
June 10th, 11AM ET
Key Takeaways
- Discover blended genome-exome sequencing: Understand how combining low-coverage WGS with targeted WES creates a transformative model for advancing clinical discovery and broadening access to precision diagnostics.
- Evaluate strategies for scalable genomic data: Learn how advancements in sequencing chemistry and informatics enable comprehensive variant calling and high-quality data delivery for population-scale initiatives.
- Examine clinical utility across disease areas: See how the integration of monogenic and polygenic data within a single test can improve diagnostic yields and risk stratification in cardiology and oncology.
Webinar Abstract
To realize the full impact of precision medicine across diverse populations, clinicians and researchers often face a difficult choice: Conduct studies leveraging the comprehensive breadth of Whole Genome Sequencing (WGS) or focus on the targeted depth achievable with Whole Exome Sequencing (WES). Clinical Blended Genome-Exome (cBGE) sequencing emerges as a transformative solution, combining both sequencing approaches into a single, highly scalable workflow. This session explores the technical mechanics behind this approach — utilizing low-coverage, PCR-free WGS coupled with high-depth WES on high-throughput platforms like the NovaSeq X Plus. By leveraging DRAGEN-powered informatics to deliver a unified suite of outputs, including CRAM files, VCFs, and CNV calls, this method provides superior genomic visibility without the traditional overhead of separate assays.
Join Broad Clinical Labs and a panel of distinguished clinical and research leaders for an in-depth exploration of how cBGE is redefining genomic inference and its impact on public health. This webinar explores technical theory and showcases real-world applications—including Heartgene’s Everygene program for expanding national access to cardiovascular genetic testing and the VA ProGRESS Study’s use of cBGE to power integrated risk models (P-CARE) for prostate cancer screening in Veterans. Participants will gain insight into a proven model for integrating testing, interpretation, and counseling to drive both patient and provider engagement at scale.
Speakers
Charles Brunette, PhD
Data Scientist, VA Boston Healthcare System
Charles Brunette is a Research Data Scientist at the VA Boston Healthcare System and a co-investigator for the VA Prostate Cancer, Genetic Risk, and Equitable Screening (ProGRESS) Study, where he oversees trial operations and leads informatics and data modeling efforts. ProGRESS is a pragmatic trial designed to develop and test a precision prostate cancer screening intervention among a nationally representative cohort of U.S. military Veterans. He earned his PhD from the University of Missouri and his research experience includes trial analytics, genomic medicine implementation, learning health systems, and building secure, reproducible data workflows for large-scale clinical research.
Morgan Danowski, MS, CGC
Genetic Counselor, VA Boston Healthcare System
Morgan Danowski, MS, CGC, is a research genetic counselor at the Veterans Affairs (VA) Boston Healthcare System, where she returns high risk monogenic and polygenic risk results to participants in the Prostate Cancer, Genetic Risk and Equitable Screening Study (ProGRESS), a national randomized controlled trial of precision prostate cancer screening. In addition, Ms. Danowski is a project manager for the VA site of the NIH-funded Genomics-enabled Learning Healthcare System Network. She also serves as a clinical genetic counselor across seven VA medical centers. Her work focuses on how genetic testing can help people understand their health risks and make proactive medical and lifestyle choices. Ms. Danowski obtained her Bachelor of Science degree in Health Sciences from Northeastern University and her Master of Science in Genetic Counseling from Boston University School of Medicine.
Megan Sutton, DNP, ACNP-C
Co-Founder & President, Heartgene Sciences
Megan B. Sutton, DNP, ACNP-BC, is Co-Founder and President of Heartgene Sciences, a precision cardiovascular genetics platform providing no-cost, clinical-grade genetic testing and counseling for inherited cardiomyopathies and arrhythmias. She leads clinical strategy, partnerships, and national efforts to expand access to guideline-recommended genetic testing while building a clinico-genomic data platform to advance research and precision therapies. Her career has centered on advancing innovative therapies for cardiovascular disease. She contributed to the development and launch of ENTRESTO® (Novartis) for heart failure and CAMZYOS® (BMS/MyoKardia) for hypertrophic cardiomyopathy before focusing on genetic cardiomyopathies. Prior to Heartgene Sciences, she held leadership roles at Lexeo Therapeutics and Renovacor, where she advanced gene therapy programs and real-world evidence strategies in cardiovascular disease.
Niall Lennon, PhD
Chair and Chief Scientific Officer, Broad Clinical Labs
As Chair and Chief Scientific Officer of Broad Clinical Labs, Niall Lennon leads the team and sets the scientific and clinical vision for the organization. Dr. Lennon joined the Broad Institute in 2006 and has since contributed to the development of applications for every major massively parallel sequencing platform across a range of fields. In 2013 Dr. Lennon led the effort to establish a CLIA licensed, CAP-accredited clinical laboratory at the Broad Institute to facilitate return of results to patients and to support clinical trials. More recently, he has led efforts to achieve FDA approval for large-scale genomics projects (NIH’s All of Us Research Program) and for Broad’s own clinical diagnostic for COVID-19 testing operation, which returned 37+ million results to patients. Dr. Lennon is a principal investigator of the eMerge and All of Us projects, an Institute Scientist at Broad, Associate Director of Broad’s Gerstner Center for Cancer Diagnostics, and an adjunct professor of biomedical engineering at Tufts University, where he teaches Molecular Biotechnology.
Dr. Lennon received a Ph.D. in pharmacology from University College Dublin and completed his postdoctoral studies at Harvard Medical School and Massachusetts General Hospital. He holds an executive certificate in management from the MIT Sloan School of Management.
Deirdre Maloney, MPH
Associate Director, Strategic Initiatives, Broad Clinical Labs
Deirdre has been with the Broad Institute since 2018. In her current role with Broad Clinical Labs, she spearheads various strategic initiatives and drives operational improvement efforts. She holds a Master of Public Health from Emory University and a Bachelor of Science in Biology from the University of Massachusetts Amherst.