On-demand Webinar: Clinical Blended Genome-Exome Sequencing in Practice

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From Inside the Webinar: Unlocking Comprehensive Genomic Insight: Clinical Blended Genome-Exome Sequencing in Practice

On June 10, 2026, Broad Clinical Labs hosted a live webinar bringing together clinical and research leaders for an in-depth conversation on how Clinical Blended Genome-Exome Sequencing (cBGE) is reshaping genomic medicine at scale. Moderated by Deirdre Maloney, Associate Director of Strategic Initiatives at Broad Clinical Labs, the session featured perspectives from across the genomics ecosystem, from assay development to patient-facing clinical programs, and made clear that the gap between genomic discovery and real-world clinical impact is closing faster than many might expect.

What is Clinical Blended Genome-Exome Sequencing (cBGE)?

Broad Clinical Labs’ Chief Scientific Officer Niall Lennon opened the webinar with an overview of the cBGE assay and the problem it was designed to solve. Traditional approaches to large-scale genomic studies required researchers to run two separate assays — exome sequencing and genotyping arrays — each with their own workflows, costs, and data formats. cBGE consolidates these into a single, CLIA-validated test that combines low-coverage PCR-free whole genome sequencing with high-depth exome sequencing. 

Key Advantage 

The result is a unified data output capable of supporting polygenic risk scoring, rare variant discovery, and monogenic analysis — all from one sample, at a fraction of the cost of whole genome sequencing alone. With over 100,000 samples processed annually and support for multiple sample types including saliva and capillary blood, the assay is built for scale.

Clinical Applications: cBGE in Practice

Cardiovascular Medicine: Closing the Genetic Testing Gap

To showcase how transformative this technology can be in practice, Megan Sutton, Co-Founder and President of Heartgene Sciences, shared how her organization is using cBGE in partnership with Broad Clinical Labs and the Laboratory for Molecular Medicine at Mass General Brigham to offer free genetic testing and counseling to patients with inherited cardiomyopathies nationwide. Despite guidelines recommending genetic testing for these patients, only about one percent are currently being tested. Heartgene’s program is working to close that gap: in its first year, the program returned nearly 250 positive results, and data presented at the Heart Rhythm Society meeting found that three out of four patients who qualified for implantable defibrillator consideration based on their genetic results would have been missed without genetic testing entirely.

Oncology & Veteran Health: The ProGRESS Study

The webinar also featured an in-depth look at the Veteran Affairs’ ProGRESS study, presented by research data scientist Charles Brunette and genetic counselor Morgan Danowski. Their work described a nationwide randomized controlled trial using cBGE to power an integrated prostate cancer risk model, P-CARE, for U.S. military veterans. Built from data on approximately 600,000 specimens in the Million Veteran Program, the model combines polygenic risk scoring with family history to stratify men into risk categories and guide personalized screening decisions. With over 2,600 participants randomized to date, the study is demonstrating how genomic profiling can move precision medicine from the research setting into routine clinical care. Morgan’s patient case examples illustrated powerfully how a single genomic result can reshape an individual’s entire care trajectory.

Together, the programs and perspectives shared during this webinar reflect a broader shift: genomic testing is no longer a niche capability reserved for academic research or well-resourced health systems. With the right platform, partnerships, and infrastructure, it can be delivered equitably and at scale to the patients who need it most. Broad Clinical Labs is proud to be at the center of that work.

Watch the Webinar On-Demand

If you missed the live session, the full webinar recording is now available on demand — click here to watch.

Ready to learn more? 

Whether you’re a clinician, researcher, trial sponsor, or health system exploring genomic services, we’d love to connect. Reach out to us at BCLServices@broadinstitute.org or visit broadclinicallabs.org to learn more about our services. 

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Sean Hofherr

Chief of Clinical Strategy and Product Development, Broad Clinical Labs

Sean Hofherr is dual board certified by ABMGG in Clinical Biochemical Genetics and Clinical Molecular Genetics. Sean serves as the Chief of Clinical Strategy and Product Development at Broad Clinical Labs. In this role at BCL, Sean is able to leverage his extensive experience to guide the clinical vision and delivery across the organization. Sean most recently served as the Chief Operating Office at Fabric Genomics, which focuses on the use of AI and Bioinformatics for Clinical Interpretation of whole genome sequencing. Prior to Fabric, Sean was the Chief Scientific Officer and CLIA Director at the commercial reference laboratory, GeneDx.

Sean received his B.S. degree in Microbiology and Cell Sciences from the University of Florida before earning his Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. Sean completed clinical fellowships in Clinical Biochemical Genetics and Clinical Molecular Genetics at the Mayo Clinic.

Danielle Perrin

Chief of Staff, Broad Clinical Labs

As Broad Clinical Labs’ Chief of Staff, Danielle Perrin advises and supports colleagues on the executive leadership team in BCL’s strategic planning and execution. She builds and leads new organizational functions and processes and leads critical projects, as well as driving effective information flow, decision making, and execution throughout the organization. An operations leader with a business, engineering, and biology background and 20+ years of experience in the genomics field, Perrin has a track record of driving operational excellence and building and scaling both physical and business processes. During her career at Broad, which started in 2003 at the tail end of the Human Genome Project, Perrin has led laboratory operations and R&D teams in Broad’s Genomics Platform, as well as fulfilling senior advisory and leadership roles in the Broad Institute’s COO and CFO offices.

Perrin received her B.S. in Biology and M.E. in Biotechnology Engineering from Tufts University and her M.B.A. from the MIT Sloan School of Management.

Tim De Smet

Chief Commercial Officer, Broad Clinical Labs

As Chief Commercial Officer of Broad Clinical Labs, Tim De Smet leads BCL’s business development, alliance management, external project management, and customer support teams. A Broad Institute employee since 2008, De Smet has held leadership roles and managed teams of various sizes in Broad’s Genomics Platform and clinical lab, spanning laboratory operations, finance, and informatics, and has expertise in work design, financial modeling, and high scale laboratory and business operations.

De Smet received his B.S. in Biochemistry and M.B.A. from Northeastern University.

Jim Meldrim

Chief Technology Officer, Broad Clinical Labs

As Chief Technology Officer, Jim Meldrim sets the vision for Broad Clinical Labs’ informatics systems, including the hardware and software used for sample intake and tracking, data production, analysis, and delivery. Having held a variety of laboratory and informatics-focused leadership roles at Broad, spanning R&D and production operations, Meldrim has been a leader and innovator in the generation, management, and analysis of genomic data since 1999, beginning with sequencing data generation for the Human Genome Project.

Meldrim received his B.S. in Biology from Cornell University.

Sheila Dodge

Chief Operating Officer, Broad Clinical Labs

As Chief Operating Officer, Sheila Dodge leads Broad Clinical Labs’ process development and implementation activities, as well as lab operations, financial planning and operations, quality & compliance, and core business processes. A Six Sigma Black Belt with extensive experience in process development and high throughput genomics operations, Dodge is an expert in work design and in collaborating with a range of collaborators, scientists, engineers, and technology partners to rapidly integrate new technologies and operationalize innovations. A member of the Broad Institute since 2001, Dodge is an Institute Scientist and lectures at the MIT Sloan School of Management on operations, dynamic work design, and visual management techniques.

Dodge received her B.A. in biochemistry and molecular biology from Boston University and her master’s degree in biology from Harvard University. She earned her M.B.A. from MIT Sloan School of Management.

Heidi Rehm, Ph.D., FACMG

Chief Medical Officer and Clinical Laboratory Director, Broad Clinical Labs

Heidi Rehm is board-certified by ABMGG in Clinical Molecular Genetics and Genomics and serves as BCL’s Chief Medical Officer and Clinical Laboratory Director. She oversees BCL’s regulatory requirements, leads the clinical team performing genomic interpretation and variant analysis, and guides BCL’s efforts in genomic testing for clinical and research use. She is also an Institute Member of the Broad and co-director of the Medical and Population Genetics Program. Rehm is also the Chief Genomics Officer in the Department of Medicine and Genomic Medicine Unit Director at the Center for Genomic Medicine at Massachusetts General Hospital, working to integrate genomics into medical practice. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. She co-leads both the Broad Center for Mendelian Genomics, focused on discovering novel rare disease genes, and the Matchmaker Exchange, which aids in gene discovery. She is Chair of the Global Alliance for Genomics and Health, a principal investigator of the Broad-LMM-Color All of Us Genome Center, co-leader of the Genome Aggregation Database (gnomAD), and a Board Member and Vice President of Laboratory Genetics for the American College of Medical Genetics and Genomics.

Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.

Niall Lennon, Ph.D.

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.