Blended Genome-Exome Sequencing is now available for clinical applications! Visit our Clinical BGE page.

Introducing Broad Genomics Blog

The Broad Institute has >25 years of experience in executing large-scale genomics projects to accelerate discovery in biomedical research. From the first human genome project to annually sequencing >100,000 human genomes, our commitment to, and track-record of, high quality data generation, data analysis, and collaborative science has been unwavering.  

Yet in all that time, we as a genomics team, have never had a blog! In the interest of early adoption of burgeoning means of communicating science, we’re happy to get into this blogging thing 😉  

Kidding aside, a refresh in our website design and management means we have an opportunity now to share news in a different way. With all the exciting things happening in genomics right now (new technologies, new applications) we thought a more real time means to share our observations and early data would be of interest to some in this community.  

All that said, we don’t have a fancy social media team (no TSA level instagram presence for us) nor a staff of dedicated writers (though we hold out hope that Chat GPT may eventually do a lot of the heavy lifting (jk)) to commit to keeping this content fresh. If it seems like no-one is really interested in what we say here, maybe it won’t persist. If it does become a useful medium to share lessons learned and insights we will do our best to keep it going.  

So, our commitment for the next few months is to post something every few weeks (or more frequently if there is something to say). After that time we will review engagement using whatever analytics this new platform affords and make a data-informed decision.  

What group does this blog represent? As you may or may not know, the Broad Institute is a large biomedical research institution that is independent of, but affiliated with, MIT, Harvard, and affiliated hospitals. The Institution is structured as a set of scientific programs (e.g. Cancer program, Medical and Population Genetics Program, Infectious Disease Program, etc) and technology platforms (e.g. Genomics Platform, Genetic Perturbation Platform, Proteomics Platform, etc). The Genomics Platform is the largest of the technology platforms, with about 250 people. Our mission is to accelerate biological research and improve human health. We apply technologies (mostly but not exclusively genomic technologies) to a range of application areas to serve our scientific community who are making insights into the mechanisms of human disease and identifying paths toward therapeutics.  

Our group also encompasses a clinical lab, currently named Clinical Research Sequencing Platform (CRSP)  – which is not a super useful name and will change soon (more on that in future posts). CRSP is a CLIA-licensed, CAP-accredited clinical laboratory that supports clinical research, clinical trials, and clinical diagnostics. CRSP is a separate entity but is wholly-owned by the Broad Institute. The clinical lab also sits within our larger genomics platform group so it is staffed by the same people, uses the same instruments, etc. It is through this clinical lab that we processed the 37+M SARS-CoV2 diagnostic RT-PCR tests and that we continue to process thousands of whole genome sequencing for the All of Us project, and clinical global diversity arrays for the eMERGE IV project.  

Important note for this blog: Posts do not equal endorsements. Broad has a strict policy against endorsement of for profit companies. Having said that, we do feel it is part of our duty to share what we can about our experiences with new technologies (particularly new sequencing technologies) with the community as we are often fortunate to have these new platforms first. Sometimes we may be restricted as part of early-access agreements or confidentiality agreements, but when we can we hope to share some early data on what we are seeing so you don’t just have to take the company’s word for how their box performs. 

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.