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Galatea Bio, Fabric Genomics, and Broad Clinical Labs Partner to Deliver Comprehensive Genetic Testing for Common Diseases

Galatea Bio and Fabric Genomics, a GeneDx company, announced a strategic collaboration to enhance genetic testing by incorporating both rare pathogenic variant analysis and polygenic risk scoring (PRS) to assess genetic susceptibility to common diseases.

The initial offering will include an inherited cardiovascular gene panel based on American Heart Association (AHA) recommendations, with additional PRS for cardiovascular related traits, including coronary arterial disease, high low-density lipoprotein (LDL), elevated triglycerides, low high-density lipoprotein (HDL), atrial fibrillation, hypertension, type 2 diabetes and hypothyroidism. A follow-up offering will integrate hereditary cancer panels with PRS for breast, colorectal, and prostate cancers.

“Galatea Bio is committed to making common genetic risk prediction more accurate for all,” said Carlos Bustamante, Ph.D., CEO & Co-Founder, Galatea Bio. “Through our collaboration with Fabric Genomics, we’re working to capture both rare and common genetic contributions to disease risk—delivering meaningful insights to individuals across the US and around the world.”

This collaboration integrates Fabric Genomics’ platform for clinical reporting and its expertise in clinical gene panel curation with Galatea Bio’s advanced PRS algorithms. By combining these capabilities, the partnership provides both rare variant and polygenic genetic risk reporting using the Broad Clinical Lab’s (BCL) Blended Genome – Exome. A key component of this collaboration is the integration of Galatea Bio’s newly released individually-adjusted PRS solution, StrataRisk™ PRS, which provides genetic risk for individuals of all ancestries. This is made possible through a novel, proprietary algorithm that leverages data from the Galatea Bio Global Biobank to calibrate PRS scores against similar individuals in genomic ancestry space, ensuring equitable risk assessment across diverse populations.

“By leveraging Fabric Genomics’ high-quality clinical gene panel interpretation to support Galatea’s polygenic risk score reporting, we are enabling more personalized assessments of an individual’s risk for common diseases,” said Martin Reese, Ph.D., President of Fabric Genomics. “This combined approach allows us to better explain patients’ results with a more accurate risk profile.”

Evaluating both rare genetic disease variants and polygenic risk scores can have several advantages over reporting either of these independently. Traditional single-gene or multi-gene panel testing focuses on high-penetrance rare mutations, which capture a subset of patients with an inherited single gene disease and often results in negative or uncertain results, leaving many patients’ risk unexplained. PRS, which aggregates the cumulative effect of numerous common genetic variants, can provide refined risk stratification.

“This collaboration between Fabric Genomics and Galatea Bio is enabled by our clinical Blended Genome – Exome,” said Niall Lennon, Ph.D., Chief Scientific Officer, Broad Clinical Labs. “This is exactly the kind of application we envisioned for this cost-effective approach—one that will provide a more comprehensive view of genetic susceptibility to important common diseases.”

About Fabric Genomics

Fabric Genomics, a GeneDx company, is democratizing genomics-driven precision medicine. The company provides institutions with end-to-end clinical sequencing solutions that include the Fabric Enterprise software platform, assay design and validation support and the clinical interpretation services needed to scale genetic testing. At the core of this platform is a suite of sophisticated AI algorithms and data knowledge systems that turn data into expert clinical insights. Headquartered in Oakland, California, Fabric Genomics supports clinical applications across a variety of use cases including rare disease, oncology, cardiovascular, neurological and women’s health. To learn more, visit fabricgenomics.com and follow us on X and LinkedIn.

About GeneDx

At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery and improve health system efficiencies. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook and Instagram.

About Galatea Bio

Galatea Bio is an innovative, venture-backed biotechnology company that strives to advance ‘Precision Health at Scale for All.’ Founded by pioneers in the fields of population genetics and bioinformatics, Galatea Bio leverages cutting-edge ancestry algorithms to scale  the promise of precision health to global  populations, while maintaining a strong commitment to ethical research. The company is headquartered in Miami Lakes, Florida. For more information, visit www.galatea.bio or follow us on X and  LinkedIn.

About Broad Clinical Labs

Broad Clinical Laboratories was founded in 2013 as a non-profit subsidiary of Broad Institute of MIT and Harvard to accelerate the world toward a better understanding, diagnosis and treatment of disease by pursuing projects, developing products and driving adoption of cutting edge genomics technologies and novel molecular assays. Broad Clinical Labs is a leader in translational genomics, having sequenced over 700,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease. www.broadclinicallabs.org

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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.