Genetic counselors fill a number of essential roles at Broad, from working with clinical research participants, to project management, and leading and contributing to research projects.
Genetic counselors fill a number of essential roles at Broad, from working with clinical research participants, to project management, and leading and contributing to research projects. Genetic counselors help clinicians, patients, families, research participants, and others understand the meaning and potential value of genetic information, as well as navigate the tough ethical questions that arise from the genetic testing experience. This Genetic Counselor Awareness Day, we want to celebrate all of the genetic counselors who are helping to move genetic research forward.
Not sure where you’ve seen a Broad genetic counselor at work? Genetic counselors at Broad are involved in these five projects at Broad:
- Rare Genomes Project
Genetic counselors in the Rare Genomes Project manage project operations, contribute to identifying causes of rare mendelian diseases, and facilitate direct-to-patient participation in research. They also support participants who receive a result by coordination with the clinical team and resource identification.
- Genome Aggregation Database gnomAD
A genetic counselor is the operations manager and council member for gnomAD. As part of this role they collect user feedback, oversee sample acquisition, maintain regulatory compliance and manage collaborations for gnomAD.
- Clinical Research Sequencing Platform (CRSP)
Genetic counselors at CRSP provide a clinical voice to ensure that products reflect the needs of clinicians, researchers, and patients. They also play a vital role in interpreting genetic sequencing data for patients and research participants tested through CRSP.
- Center for Mendelian Genomics (CMG)
As an analyst, the genetic counselor reviews genomic data to identify a cause for rare, undiagnosed, monogenic disorders. The genetic counselor is also the product owner for seqr - an open-source, user-friendly platform, designed at the Broad to make genomic analysis accessible to the rare disease community.
- Clinical Genome Resource (ClinGen)
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. A genetic counselor serves as program manager for the ClinGen grant-funded work based at Broad. Across the multi-institutional ClinGen network, over 200 genetic counselors contribute on many levels, including Investigators, Steering Committee Members, Project Managers, Working Group & Expert Panel Chairs, Coordinators, Members and Curators.
Thank you to all of our Broad Genetic Counselors: Danielle Azzariti, Samantha Baxter, Katherine Lafferty, Melanie O’Leary, Lynn Pais, Areesha Salman, Diana Toledo and Grace VanNoy.
Interested in working with a genetic counselor at Broad? Reach out to: GeneticCounselors@broadinstitute.org.
Photo description: Back row (L-R) Katherine Lafferty, Grace VanNoy, Areesha Salman Front row (L-R) Danielle Azzariti, Lynn Pais Broad genetic counselors missing from photo: Samantha Baxter, Melanie O’Leary, Diana Toledo