Genetic Counselor II/ Senior Genetic Counselor

GENERAL SUMMARY/OVERVIEW STATEMENT

The Laboratory for Molecular Medicine (LMM) at Mass General Brigham (MGB) Personalized Medicine is seeking a motivated and experienced individual to work in a cutting-edge environment to serve as a genetic counselor on our team. The LMM is a leading molecular diagnostic laboratory that supports clinicians and researchers across the MGB system, including the flagship institutions of Massachusetts General Hospital and Brigham and Women’s Hospital, and the MGB Biobank. The LMM is also a well-recognized molecular genetics reference laboratory for national and international institutions, and functions as a clinical laboratory and genomic interpretation center for multiple translational research grants. At the LMM, our vision is to lead the implementation of advanced technologies, informatics, and practices into molecular diagnostic testing, focusing on transitioning the emerging aspects of personalized medicine into clinical practice.

The Genetic Counseling Team in collaboration with the Genomic Curation Team is responsible for maintaining excellence and innovation for our clinical testing operations and translational research grants, including panel-based testing, exome sequencing, and genome sequencing. Team members provide thorough review of all data on variants identified during the testing process, using detailed evidenced-based rules for variant classification. The team also performs gene assessment to evaluate the evidence and validity of gene-disease associations. In addition, genetic counselors interpret test results, draft reports and communicate test results to ordering physicians. Genetic counselors assist with content research for new test development, collaborate on projects, generate marketing materials, update documents and text for the website, and also may play a lead role managing LMM components of clinical research projects. For these activities, our genetic counselors interact with geneticists, variant scientists, fellows within the ABMGG and MGP fellowship programs, bioinformaticians, and other laboratory and clinical staff. Opportunities to publish manuscripts with LMM staff and/or external investigators are also available.

PRINCIPAL DUTIES AND RESPONSIBILITIES

1. Perform variant and gene assessments

1. Research the significance of variants
2. Evaluate the evidence for gene-disease associations
3. Perform literature and data review

1. Develop a unique knowledge base

1. Become an expert in variant sciences
2. Develop an in-depth understanding of the molecular aspects of human diseases
3. Develop a knowledge of testing technologies used in the laboratory
4. Provide education and training to lab staff and fellows about variant sciences as needed

1. Patient reporting

1. Draft test interpretations
2. Reconcile genetic test results with clinical information and detect any discrepancies between the clinical and molecular findings
3. Design/maintain reporting templates
4. Interact with ordering providers in discussing assays and results

1. Manage clinical research projects
2. Coordinating LMM activities and managing interactions with external grant team members in conjunction with a laboratory director
3. Variant assessment and report drafting of variants for both screening and diagnostic purposes
4. Collaborating with clinicians, specialists, and genetic counselors for delivery of results and referral of patients