Senior Clinical Genomics Specialist

Sr. Clinical Genomics Specialist

Job Description: The Broad Clinical Labs (BCL) is a CLIA licensed, CAP accredited clinical laboratory providing physicians and physician-researchers with high quality molecular tests.

We are searching for a Sr. Clinical Genomics Specialist and variant curation scientist to support the BCL laboratory's current clinical tests including germline whole genome and blended genome exome with interpretation. This position will be involved in genomic case analysis and variant classification and work in close collaboration with other members of the BCL and Translational Analysis Group (TAG) teams, which include analysts, clinicians/providers, computational biologists, software engineers, senior laboratory personnel and account/project managers. This position will also involve a high degree of project management for high priority, complex projects from strategic planning and initiation to completion (including clinical validations) while focusing on strategies for optimizing performance and maximizing successful outcomes. The candidate should have a strong background in clinical genetics and/or genetic counseling, have fluency in human disease genetics, have excellent attention to detail and be able to adapt quickly and be part of a cross-functional team in a rapidly changing environment.

The clinical genomic specialist will support projects for clinical research, clinical trials, and clinical diagnostics. 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.

Primary Responsibilities:

• Directly analyze exome and genome data for identification of disease-causing variants, using existing and newly-developed analysis tools and draft clinical reports

• Assess, maintain and improve variant annotation and filtration capabilities

• Present results and progress at regular team and other Broad Institute meetings

• Support data quality review and release of data

• Project management including comprehensive project plans which include project scope, goals, resource requirements, risk analysis, implementation strategies, and communication plans

• Support development and validation of new clinical assays

• Involvement in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences

Requirements:

• Master's Degree in Genetic Counseling/Human Genetics/Genomics from an ABGC accredited Program OR other relevant discipline or equivalent experience required. Genetic counselors should have or be eligible for board-certification and licensure in Massachusetts.

• Experience in genomic case analysis and variant classification for germline disease using ACMG/AMP guidelines is a must

• A deep understanding of human genetics and next-generation DNA sequencing and other molecular laboratory methods

• Experience in cloud-based computing a plus, with some experience in Python, R, and Unix being advantageous

• Demonstrated attention to detail, project management skills, and analytical skills

• Excellent communication skills

• Excellent organization and time management skills

• Highly collaborative and able to work well in a team

• Desire to contribute to a fast paced, exciting work environment.

• 4+ years of related experience and demonstrates proficiency in clinical and molecular genomics