This is an exciting opportunity to provide world-class genetic diagnostics and clinical interpretation for rare inherited diseases in 14 medical specialties. Our promise is to provide clinicians and their patients with comprehensive and high-quality tools and resources for diagnosis of genetic conditions. In doing so, we provide possibilities for targeted treatment and individualized care for patients.

Job Description

The Genomic Variant Scientist will play a key role in clinical operations at Blueprint Genetics. The incumbent will join a growing US-based genetic interpretation team, where they will be responsible for the preparation of preliminary result reports based on data from Whole Exome Sequencing (WES) and NGS-based panels in a clinical laboratory setting.

The Genomic Variant Scientist will review data supporting the pathogenicity of DNA variants identified in patients using data collected from internal and external databases as well as published literature and present this information in a clear and concise written format. This position requires frequent communication with Laboratory Directors, Scientific Directors, Medical Directors, and Genetic Counselors regarding variant classifications and clinical report text.

Responsibilities

• Review data supporting variant pathogenicity classification collected from internal and external databases as well as published literature as defined in the corresponding Standard Operating Procedure.
• Prepares preliminary result reports for high complexity genetic tests, ensuring a high standard of quality and timely processing.
• Helps define and hone variant curation strategies (including disease allele frequency calculations, gene specific rules, and special assessment notes), variant assessment process, interpretation process, and reporting process on an ongoing basis.
• Supports group projects through tasks including but not limited to gathering and/or interpreting data to be published or presented at a national conference; assisting with process improvement projects; or supporting new test development efforts.
• Recognizes and resolves abnormal, unusual or unexpected results; appropriately identifies issues that require further action by the Manager or Director.
• Active participation in continuing education series including journal club presentations, assay launch presentations, and complex variant discussions/presentations.

Qualifications

• Ph.D. with thesis (or equivalent); MS (or equivalent) with industrial experience and significant demonstration of capabilities and collaboration; BS with extensive industrial experience and significant demonstration of capabilities and collaboration.
• Minimum 1-2 years experience in a clinical genetics setting or CAP/CLIA laboratory performing genetic testing
• Ability to read and interpret documents such as peer-reviewed scientific journal articles and curate pertinent data findings in a clear and detail-oriented manner.
• Familiarity of technical aspects of all tests performed
• Strong written and verbal communication skills
• Ability to read and interpret documents such as peer-reviewed scientific journal articles and curate pertinent data findings in a clear and detail-oriented manner.
• Ability to work individually and in team-based setting
• Attention to detail
• Well-developed interpersonal skills and the ability to communicate with all levels of business, medical, and technical personnel.
• Knowledge of medical terminology

What We Offer

• Generous health, dental, vision, life and disability insurance plans.
• Competitive paid time off and holiday policy.
• Traditional 401(k), FSA, HSA, EAP and commuter benefits.
• Chance to develop your skills further in a rapidly evolving business environment.
• Positive and international work environment with great people.
• We are a team of experienced, young professionals who share the passion to help patients and families with inherited disorders.

Blueprint Genetics is a Quest Diagnostics company. Quest Diagnostics is the world’s leading provider of diagnostic information services. http://www.questdiagnostics.com/