This is an exciting opportunity to be part of the Blueprint Genetics team providing world-class genetic diagnostics and clinical interpretation for rare inherited diseases. We have a comprehensive genetic testing catalog that covers 14 disease categories, in addition to whole exome sequencing.

Job Description

Our promise is to provide clinicians and their patients with comprehensive, high-quality tools and resources for the diagnosis of genetic conditions. The successful candidate will join a growing US-based genetic interpretation team at Blueprint Genetics, where they will participate in the investigation of the clinical significance of genetic variants.

This role is responsible for extracting pertinent information from clinical notes submitted by clinicians for the purpose of exome sequencing and large panel testing, as well as assisting in the result reporting of the test findings.

Responsibilities

• Perform all duties in accordance with company Standard Operating Procedures.
• Identify pertinent features in clinical note that would be informative for the interpretation of genetic variants.
• Manage case follow-up, outcomes documentation, and data collection
• Generate report text for high complexity genetic tests in collaboration with genetic directors, genomic variant scientists, and genomic science specialists.
• Understand the process of pathogenicity assessments of genetic variants detected in patients. Understand the significance of data collected from internal and external databases as well as published literature as defined in the corresponding Standard Operating Procedure.
• Develop strong cross-functional relationships within the Research and Development and Operations teams.
• Support 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.
• Perform quality control testing and maintains a quality management programs according to written policies and procedures. 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

• At least MS level degree with relevant experience in clinical genetics or the medical profession. Individual with board certification or board eligibility in Genetic Counseling preferred.
• Ability to interpret documents such as peer-reviewed scientific journal articles and, if needed, curate pertinent data findings in a clear and detail-oriented manner.
• Technically proficient in a broad range of skills as described in duties and responsibilities.
• Ability to resolve minor difficulties without intervention
• Ability to adjust priorities according to workload or management needs with guidance of Manager, if needed.  Independently determines and develops approach to solutions.  Work is reviewed upon completion for adequacy in meeting objectives.
• Contributes to the completion of specific programs and projects.  Failure to obtain results or erroneous decisions or recommendations would typically result in serious delays and considerable expenditure of resources.
• Strong in both written and verbal communication. Well-developed interpersonal skills and the ability to communicate with all levels of business, medical, and technical personnel.
• Good collaboration skills with peers.  Is a reliable member of the team; treats others with respect; demonstrates a willingness to contribute; demonstrates independent thought; has a positive attitude and strong interpersonal skills.

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/