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Laboratory for Molecular Medicine

The Laboratory for Molecular Medicine (LMM) is a CLIA-certified molecular diagnostic laboratory, operated by Mass General Brigham Personalized Medicine.

close up lab instruments and equipment

Enabling clinical adoption of personalized genetic medicine

The Laboratory for Molecular Medicine (LMM) is led by a group of Harvard Medical School-affiliated faculty, geneticists, clinicians, and researchers from Brigham and Women’s Hospital and Massachusetts General Hospital, Mass General Brigham’s founding members.

Our mission is to bridge the gap between research and clinical medicine by remaining focused on the following:

  • Leading the implementation of advanced technologies and practices into molecular diagnostic testing
  • Accelerating the adoption of new molecular tests into clinical care
  • Incorporating information technology (IT) support into the day-to-day operations of the clinical laboratory
  • Advancing clinical care with our participation in innovative programs, aiming to keep physicians current on and knowledgeable of genetic information relevant to their patients

Through this work, the LMM is taking the promise of personalized medicine from the lab and into the clinic. Each year, we provide services to more than 4,000 patients and their physicians through over 100 targeted genetic tests, whole gene sequencing, and now, whole exome sequencing. From detecting presymptomatic heart conditions such as cardiomyopathy (PanCardiomyopathy Panel), to tests for genetic-based hearing loss in children (OtoGenomeTM), we are working with researchers and physicians to make a difference in the lives of patients.

Comprehensive testing services

We offer comprehensive testing services to support clinical research and clinical practice. Working with LMM, you and your team will have access to: 

  • A wide range of tests, including single gene, multiple gene panel, genome sequencing, and now exome sequencing
  • Prominent clinical molecular geneticists, researchers, physicians and genetic counselors within the Harvard Medical School and the Mass General Brigham system
  • GeneInsight Suite®, an advanced system that streamlines the interpretation and management of genetic data and knowledge. The system can generate real time alerts to clinicians when the LMM changes classification of variants previously identified in one or more of their patients
  • Comprehensive, evidence-based, personalized and accurate reports that are clinically meaningful

We’ll assist you through every step of the process of genetic testing from ordering through reporting and interpretation of results. The LMM’s menu of tests offers an array of clinically relevant and studied gene panels developed via the most advanced technology platforms. Our team of experts will help you determine the best testing strategy for your clinical case, guiding you in choosing the most appropriate panel testing for your needs. Results are thoroughly reviewed and translated in a streamlined manner specific to your patient’s phenotype and genotype and are clearly explained to you and, if need be, to your patient.

Why work with us?

At the LMM, we tackle the toughest challenges associated with the advancement and adoption of personalized medicine. As innovative leaders, we build solutions from the ground up. LMM incorporates scientific discoveries and breakthrough technologies into our clinical laboratory to provide the most comprehensive genetic information. 

  • Comprehensive testing: We offer multiple panels in disease areas, as well as genome and exome sequencing to help end the diagnostic odyssey. By offering panels that test across clinical presentation we can improve the chance that clinicians and patients will find the disease-causing gene variants. 
  • Advanced infrastructure: Our GeneInsight® information technology (IT) platform – one of the most advanced systems in the industry – streamlines the management, sharing, and interpretation of vast amounts of genetic data. The system facilitates the process of generating concise, patient specific and consistent reports and helps the laboratory continuously improve its variant classification.
  • Meaningful reports: We provide comprehensive, accurate, evidence-based reports that are developed by a team of experts and are clinically meaningful. We believe that high-quality clinical reports are essential for the integration of genetic knowledge into clinical practice. Our specialists are available to assist with interpretation of results.
  • Real-time clinical updates: As our knowledge base on genetic variants grows over time, we share this new information with you through GeneInsight Clinic®. We update clinicians as new information emerges on variants identified in patient profiles.
  • A team of experts: Our reputation for scientific leadership and quality is a direct result of our people. All of our lab directors hold faculty appointments at Harvard Medical School and actively pursue clinical research.
  • Knoweledge sharing: Our network infrastructure facilitates interconnectivity among genetic testing laboratories and clinicians. This functionality also supports the formation of inter-laboratory collaborations and knowledge sharing, and that enable laboratories to share knowledge, essential to new discoveries to improve patient care.


From genetic data to clinical action—an innovative solution for better patient care

GeneInsight Suite® is an IT platform developed by Personalized Medicine to address some of the most critical challenges that are often obstacles in the clinical adoption of personalized medicine.

The GeneInsight Suite® offers an innovative and accessible solution:

  • Streamlines the clinical testing process
  • Manages the vast amounts of data generated in genetic testing
  • Facilitates the clinical interpretation process
  • Channels this information efficiently and effectively to clinicians to impact patient care

The suite of GeneInsight® applications platform includes:

  • GeneInsight Lab®, enabling laboratories to manage genetic variant knowledge and assists in the generation of clinical reports
  • GeneInsight Clinic®, enabling clinicians to receive genetic test results for their patients, as well as patient-specific genetic variant updates as soon as new information emerges
  • GeneInsight Network®, a networking infrastructure designed to enable high throughput transfer of genetic data between and among laboratories and clinicians to improve patient care

GeneInsight® is registered as a class I exempt medical device with the FDA and has been in continuous clinical use since 2005. By integrating with our Gateway for Integration of Genomic-Proteomic Applications and Data (GIGPAD) platform and bioinformatics pipeline infrastructure, GeneInsight® provides an end-to-end solution for a molecular diagnostic testing laboratory.

GeneInsight® was developed through close collaboration between laboratory technicians, laboratory managers, geneticists, IT developers, and practicing physicians to address the distinct yet interrelated needs of laboratories and providers.

Clinical research projects and knowledge sharing

The LMM maintains an ongoing commitment to support the research community at large. Here are some of the LMM’s recent, collaborative initiatives with both research and knowledge sharing.

The Rare and Atypical DIAbetes NeTwork (RADIANT) is a network of universities, hospitals and clinics across the United States dedicated to characterizing rare and atypical forms of diabetes. Eligible participants undergo extensive clinical phenotyping and contribute biospecimens for multiple laboratory tests including metabolomics and genome sequencing. The LMM is supporting the clinical interpretation of the RADIANT genome sequencing data produced by the Broad Institute, with a focus on identifying known forms of genetic diabetes (for example, maturity onset diabetes of the young). LMM also performs analysis of "secondary findings" genes recommended by the American College of Medical Genetics and Genomics for participants who are interested in receiving that information. Individuals whose diabetes is not explained by the clinical genome analysis go on to have research analysis through other centers involved in the study, with a focus on identifying novel genes associated with diabetes. 

Learn more about RADIANT.

The LMM is supporting the interpretation of clinical whole genome sequences for the MedSeq Project, one of six clinical research grants awarded by the NHGRI’s Clinical Sequencing Exploratory Research program. MedSeq is led by Robert Green, MD, MPH, the associate director for research along with a collaborative group of investigators from Brigham and Women’s Hospital, Baylor College of Medicine, Children’s Hospital Boston, Duke University, and Harvard Medical School. MedSeq is designed to explore the challenges of utilizing genomic sequence data in the routine practice of medicine through an exploratory clinical trial model to randomizing physician-patient dyads to receive genomic sequencing or current standard of care.

Learn more about the MedSeq Project.

The Clinical Genome Resource (ClinGen) is a consortium of three NHGRI-funded grants working in partnership with the ClinVar database at NCBI, dedicated to harnessing both research data and the data from the hundreds of thousands of clinical genetics tests performed each year, and supporting expert curation to determine which variants are most relevant to patient care. Heidi Rehm, PhD, FACMG, chief genomics officer at Mass General, is a principal investigator of one of the three grants.

The goals of ClinGen include to:

  • Standardize clinical assessment of variants and deposition into the ClinVar
  • Improve algorithms for variant interpretation
  • Develop a consensus process for identifying clinically relevant variants
  • Curate genes and variants within multiple clinical domains
  • Build a publicly available portal for disseminating consensus information on clinically relevant genomic variants
  • Explore ways to integrate genomic information into electronic health records

The Laboratory for Molecular Medicine fully supports public data sharing and has already contributed more than 24,000 variants and full interpretations to ClinVar.

Learn more about the Clinical Genome Resource (ClinGen).

Cincinnati Children’s Hospital Medical Center (CCHMC) initiated the Engaging Adolescents study ( identifier NCT04481061) to assess young people’s choices about, and reactions to, learning negative and positive genomic research results. Choices about learning genomic information were made using an electronic decision tool. Genomic research results are returned that reflect the participants’ choices (along with a parent or legal guardian when relevant), and only the type of conditions participants chose to learn about are included in the return of results.

The BabySeq Project was the first randomized controlled trial of genomic sequencing (GS) in apparently healthy infants and provided striking data supporting the medical utility and cost effectiveness of GS in an early adopter cohort. In order to disseminate this technology equitably, it will be crucial to understand its impact on ethnically, racially and socio-economically diverse populations and their health care providers. The goals of this proposed study are to use the infrastructure and protocols developed in BabySeq to study medical, behavioral and economic outcomes associated with implementing GS in an under-represented population of infants at three diverse Clinical and Translational Science Award (CTSA) sites across the U.S.

Genome sequence-based screening for childhood risk and newborn illness

The LMM supports the interpretation of genomes in a new study to implement and evaluate the clinical use of rapid genome sequencing as an adjunct to newborn screening. This project is co-led by Robert Green, MD, MPH, the associate director for research and Alan Beggs from Boston Children’s Hospital.

Hearing and vision in infants with Usher syndrome mutations

The LMM is participating in a study to examine the early auditory, visual, and vestibular function of deaf and hearing-impaired infants and young children who receive a genetic diagnosis of Usher syndrome before vision loss. This project is led by Margaret Kenna, MD, and Anne Fulton, MD, from Boston Children’s Hospital, and Heidi Rehm, PhD, FACMG, chief genomics officer at Mass General.

Refining IT support for genetics in medicine

The LMM and GeneInsight® teams have been involved in a project led by David Bates from Brigham and Women’s Hospital to evaluate the usability and effectiveness of the GeneInsight® Clinic software for supporting the use of genetic information in patient care.

New methods and enhanced software for predicting functional SNPs

The LMM is collaborating with Shamil Sunyeav’s laboratory to improve the accuracy of PolyPhen by introducing new computational strategies for prediction of the effect of SNPs on protein structure and function, as well as to extend the prediction method to non-coding SNPs. The goal is to incorporate these developments into a new version of the PolyPhen software system.