Variant Analyst

University of California - San Francisco; San Francisco (CA); On-site; USD 120,000 - 160,000; Full time

Job summary

UCSF Health seeks a Clinical Informatics Programmer Specialist 4 to advance clinical informatics concepts and manage information systems for genetic testing operations across CCGL and GML. You will work with clinicians to optimize software use and support health analytics, data pipelines, and reporting.

Responsibilities include gene curation, variant assessment per HGVS, drafting provisional reports, ensuring HIPAA/CLIA compliance, tracking data quality, developing databases, and collaborating

Qualifications

• Broad knowledge of clinical informatics concepts and workflows.
• Experience with clinical data, HIPAA/CLIA considerations, and EHR/ Laboratory information systems.

Responsibilities

• Analyze and support genetic testing operations throughcoding, curation, and variant assessment.
• Draft provisional medical reports for director review and sign-out.
• Maintain data quality, HIPAA/CLIA compliance, and develop labs data pipelines and databases.
• Collaborate with clinicians and cross-functional teams to improve test development and efficiency.

Skills

Clinical informatics

Data integration

Communication

Problem solving

Team collaboration

Education

Bachelor's in health care IT or CS

MS in Medical Genetics/Genomics

Job description

The Clinical Informatics Programmer Specialist 4 applies advanced professional clinical informatics concepts and extensive knowledge of industry practices to projects of all levels of scope and complexity.

Involves the development and implementation of the organization's information systems and tools that are applied to clinical information. Works closely with clinicians across all hospital / healthcare departments to optimize effective use of systems. Coordinates analytical support for health management, including profiling, health economics, and business analytics / performance metrics. Defines systems and applications to support various functions. May provide customer service, troubleshooting and maintenance.

UCSF Health's Genetics and Genomics Services, Clinical Cancer Genomics Lab (CCGL) and Genomics Medicine Lab (GML) aim to achieve the highest standards in patient care. The labs provides clinical genomics testing services in a wide variety of clinical areas with highly trained subspecialists who are recognized nationally and internationally for their expertise.

Key Responsibilities

• 50% - Essential Function: Yes

  Support clinical operations of genetic testing laboratory throughgene 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.

• 30% - Essential Function: Yes

  Routine assessment of quality control metrics and , assisting 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.

  Ensure the handling of patient data is HIPAA and CLIA compliant.

  Develop, maintain, and update local databases of clinical variant annotations relevant to human disease.

• 10% - Essential Function: Yes

  Aid the laboratory directors and staff during the test development and validation of clinical testing pipelines.

  Assist 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.

• 5% - Essential Function: Yes

  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.

• 5% - Essential Function: Yes

  Assist in the instruction of trainees and training of new laboratory personnel.

  Perform other related work as needed.

Required 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.
• Ability to apply 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.

Preferred Qualifications

• Advanced organizational and project management skills, with the ability to lead a team, prioritize tasks, and see projects through from inception to completion on schedule.
• Advanced analytical skills and expertise in documentation and reporting, with the ability to apply metrics, design and run queries, collect and analyze performance data, and produce sophisticated reports and analyses for management use.

Education, Licenses/Certifications

• Bachelor's degree in health care information technology, computer science, or related area, and / or equivalent combination of experience / training - Required
• M.S.-Level Scientist in Medical Genetics or Genomics - Preferred

About UCSF

The University of California, San Francisco (UCSF) is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. It is the only campus in the 10-campus UC system dedicated exclusively to the health sciences. We bring together the world's leading experts in nearly every area of health. We are home to five Nobel laureates who have advanced the understanding of cancer, neurodegenerative diseases, aging and stem cells.

Pride Values

UCSF is a diverse community made of people with many skills and talents. We seek candidates whose work experience or community service has prepared them to contribute to our commitment to professionalism, respect, integrity, diversity and excellence - also known as our PRIDE values.

In addition to our PRIDE values, UCSF is committed to equity - both in how we deliver care as well as our workforce. We are committed to building a broadly diverse community, nurturing a culture that is welcoming and supportive, and engaging diverse ideas for the provision of culturally competent education, discovery, and patient care. Additional information about UCSF is available here.

Join us to find a rewarding career contributing to improving healthcare worldwide.

Equal Employment Opportunity

The University of California is an Equal Opportunity Employer. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, disability, age, protected veteran status, or other protected status under state or federal law.

Salary Information

The final salary and offer components are subject to additional approvals based on UC policy.

Your placement within the salary range is dependent on a number of factors including your work experience and internal equity within this position classification at UCSF. For positions that are represented by a labor union, placement within the salary range will be guided by the rules in the collective bargaining agreement.

To learn more about the benefits of working at UCSF, including total compensation, please visit: https://ucnet.universityofcalifornia.edu/compensation-and-benefits/index.html

Required 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.
• Ability to apply 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.

Preferred Qualifications

• Advanced organizational and project management skills, with the ability to lead a team, prioritize tasks, and see projects through from inception to completion on schedule.
• Advanced analytical skills and expertise in documentation and reporting, with the ability to apply metrics, design and run queries, collect and analyze performance data, and produce sophisticated reports and analyses for management use.

Education, Licenses/Certifications

• Bachelor's degree in health care information technology, computer science, or related area, and / or equivalent combination of experience / training - Required
• M.S.-Level Scientist in Medical Genetics or Genomics - Preferred