Clinical Informatics Programmer Specialist 4

Responsibilities

• Support clinical operations of genetic testing laboratory through gene curation, assessment of gene-disease correlation, and variant curation across the various genetic tests offered by the laboratory (e.g. hereditary cancer panel, exome, genome, and cancer gene panels).
• Analyze clinical data selecting variants for curation/confirmation, variant nomenclature following HGVS guidelines.
• Draft provisional medical reports for laboratory director review and sign out.
• Routine assessment of quality control metrics and assist with troubleshooting in collaboration with lab technicians and bioinformaticians as needed.
• Track and manage the flow and analysis of patient data.
• Develop and maintain databases of patient case status, human phenotype ontologies, and associated genetic analysis pipelines.
• Aid the laboratory directors and staff during the test development and validation of clinical testing pipelines.
• Aid in the development of procedures and rules for classifying genetic variation according to ACMG/AMP guidelines, curation in internal databases, submission to ClinVar, and for publication.
• Contributes to facilitating and promoting internal and external genomic projects by providing scientific or intellectual information.
• Participate as a productive member of the work team and prepare cases for weekly team meetings.
• Work with cross-functional teams, department, and providers on developing new tests, strategies to improve efficiency and accuracy for the GML/CCGL.
• Assist in the instruction of trainees and training of new laboratory personnel.
• Perform other related work as needed.

Qualifications

• Broadly encompassing or highly in-depth knowledge of 1-2 areas of focus in clinical informatics specialty areas.
• Knowledge of controlled terminology, clinical workflows, user interface optimization, clinical decision support, rules development, data integration and mining, clinical ontologies and adoption of technology.
• In-depth knowledge of all relevant clinical informatics software and systems, and of the highly-complex concepts, principles, policies, methodologies, techniques, best practices, regulations, and standards practices involved with patient care and electronic medical data management in the UC health care system.
• Advanced interpersonal communications skills, to convey highly technical information and instructions to all levels of clinical users in a clear and concise manner, to provide technical support, and to develop and deliver training materials as needed.
• Advanced problem-resolution skills to highly complex issues, quickly diagnose problems, and develop, test, and implement appropriate and effective solutions in a timely manner.
• Advanced ability to serve as a technical leader and information resource, and to work collaboratively with senior staff and management across departments, providing advice, counsel, and analysis on issues of policy, functionality, system efficiency, upgrades, business analytics, and industry advances and trends.