Clinical Genomics Assistant

The Broad Institute•Cambridge, MA

2d•$25 - $33•Hybrid

About The Position

The Broad Institute of MIT and Harvard is one of the world's leading biomedical research institutes. It seeks to discover the molecular basis of major human diseases, develop effective new approaches to diagnostics and therapeutics, and disseminate discoveries, tools, methods, and data openly to the entire scientific community. Founded in 2004, the Broad Institute includes faculty, professional staff, and students from throughout the MIT and Harvard biomedical research communities, with collaborations spanning the globe. We are seeking motivated individuals to work in a cutting-edge environment to serve as a clinical genomics assistant jointly for the Clinical Genome Resource (ClinGen) and the Broad Clinical Laboratory LLC (BCL). ClinGen is an NIH-funded program that is building authoritative resources to define the clinical relevance of genes and variants for use in precision medicine and research (https://www.clinicalgenome.org/). BCL is a CLIA licensed, CAP accredited clinical laboratory providing physicians and physician-researchers with high quality molecular tests (https://broadclinicallabs.org/about-us/). This position would begin with training within our variant and gene-curation teams which support variant classification and gene-disease validity assessment in the clinical laboratory and ClinGen followed by supporting an array of BCL tests (including germline whole genome) and ClinGen disease-specific Expert Panel activities and affiliated projects within ClinGen and at the Broad Institute of MIT and Harvard. This is an opportunity to play a role in large-scale genomics, informatics, and disease genetics as well as contribute to the development and implementation of transformative new clinical tests that could impact patients on an individual basis. The CGA will engage regularly with genetic counselors involved in both ClinGen and BCL activities as well as periodic networking opportunities with the wider genetic counseling community at the Broad Institute.

Requirements

Bachelor of Arts (BA) or Bachelor of Science (BS) degree in a scientific field, with a strong preference for coursework in genetics or molecular genetics
Excellent written and verbal communication skills
Required ability to work across our Cambridge and Burlington locations
minimum of a two-year commitment

Responsibilities

Support ClinGen curation activities
Research the significance of variants and genes through literature and data review
Classify variant- and gene-disease associations
Support research projects that require curation of genomic knowledge
Support the BCL clinical interpretation team
Assist with variant and gene curation activities related to the analysis of genome data and/or test development, using existing and newly-developed analysis tools
Provide project management support, including tracking of cases, communication with providers, and weekly task tracking updates
Assess, maintain and improve variant annotation and filtration capabilities
balance and manage multiple tasks and projects independently.
interact effectively with a local team at the Broad Institute and an international network of laboratories, disease experts and data sources