UCSF

Public health sciences university in San Francisco

Variant Analyst

Quantitative Biology & BiostatisticsConfirmed live in the last 24 hours

Full-timeCalifornia, USA$110 - $120In-person

About the Job

Requirements

Broadly encompassing or highly in-depth knowledge of 1-2 areas of focus in clinical informatics specialty areas, including controlled terminology, clinical workflows, user interface optimization, clinical decision support, rules development, data integration and mining, clinical ontologies, and technology adoption.
In-depth knowledge of relevant clinical informatics software and systems, and of concepts, principles, policies, methodologies, techniques, best practices, regulations, and standards involved in patient care and electronic medical data management in the UC health care system.
Advanced interpersonal communication skills to convey highly technical information and instructions clearly and concisely to clinical users, provide technical support, and develop and deliver training materials as needed.
Ability to apply advanced problem-resolution skills to complex issues, diagnose problems, and develop, test, and implement effective solutions in a timely manner.
Advanced ability to serve as a technical leader and information resource and collaborate with senior staff and management across departments, advising on policy, functionality, system efficiency, upgrades, business analytics, and industry advances and trends.
A bachelor's degree in health care information technology, computer science, or a related area, and/or an equivalent combination of experience and training.
Knowledge of gene curation, gene-disease correlation assessment, variant curation, clinical data analysis, and variant nomenclature following HGVS guidelines.
Ability to handle patient data in compliance with HIPAA and CLIA.
Knowledge of ACMG/AMP guidelines for classifying genetic variation.

Responsibilities

Support clinical operations of the genetic testing laboratory through gene curation, assessment of gene-disease correlation, and variant curation across the laboratory's genetic tests, including hereditary cancer panels, exome, genome, and cancer gene panels.
Analyze clinical data and select variants for curation and confirmation; apply variant nomenclature following HGVS guidelines; and draft provisional medical reports for laboratory director review and sign-out.
Assess quality control metrics and assist with troubleshooting in collaboration with laboratory technicians and bioinformaticians.
Track and manage patient data flow and analysis.
Develop and maintain databases of patient case status, human phenotype ontologies, and associated genetic analysis pipelines.
Ensure patient data handling complies with HIPAA and CLIA, and develop, maintain, and update local databases of clinical variant annotations relevant to human disease.
Assist laboratory directors and staff with test development and validation of clinical testing pipelines.
Assist in developing procedures and rules for classifying genetic variation according to ACMG/AMP guidelines, curation in internal databases, submission to ClinVar, and publication.
Facilitate and promote internal and external genomic projects by providing scientific or intellectual information.
Prepare cases for weekly team meetings and collaborate with cross-functional teams, departments, and providers to develop new tests and strategies to improve GML/CCGL efficiency and accuracy.
Assist in instructing trainees and training new laboratory personnel.
Perform other related work as needed.

Desired Qualifications

Advanced organizational and project management skills, including 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, including applying metrics, designing and running queries, collecting and analyzing performance data, and producing sophisticated reports and analyses for management use.
An M.S.-level degree in Medical Genetics or Genomics.

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.

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

% of time	Essential Function (Yes/No)	Key Responsibilities
50%	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%	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%	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%	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%	Yes	Assist in the instruction of trainees and training of new laboratory personnel. Perform other related work as needed.
100%

Budgeted Job Salary Range: $110 - $120

About the Company

UCSF

Public health sciences university in San Francisco

UC San Francisco is a public research university in San Francisco focused solely on health sciences, combining professional education with biomedical research and patient care. Its schools of dentistry, medicine, nursing and pharmacy train clinicians and scientists, while teams investigate cancer, immunology, genomics and neuroscience. UCSF Medical Center and Benioff Children's Hospitals connect clinical care with faculty research and training, and university clinics serve patients across Northern California. Founded in 1864, UCSF is the University of California campus dedicated to graduate and professional education and biomedical research, based in San Francisco.

Company size: 10,001+
Company stage: Not listed
Total funding: Not listed
Headquarters: Not listed
Founded: 1864

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